#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
CLCNKB	1188	broad.mit.edu	37	1	16378751	16378751	+	Silent	SNP	C	C	T	rs535003549	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:16378751C>T	ENST00000375679.4	+	15	1578	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	CLCNKB_ENST00000375667.3_Silent_p.F320F	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	489					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGGCCTTCGAGGTGACCG	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20617	0.0		0.001	False		,,,				2504	0.0					uc001axw.3																			0				skin(1)	1						c.(1465-1467)TTC>TTT		chloride channel Kb isoform 1							63.0	60.0	62.0					1																	16378751		2203	4300	6503	SO:0001819	synonymous_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16378751C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1467C>T	1.37:g.16378751C>T						FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.F489F|CLCNKB_uc001axy.3_Silent_p.F320F	p.F489F	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1547	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	489			Helical; (Potential).		B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1467C>T	CCDS168.1																																																																																				0.657	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	
KLF17	128209	broad.mit.edu	37	1	44595217	44595217	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:44595217C>T	ENST00000372299.3	+	2	332	c.274C>T	c.(274-276)Cca>Tca	p.P92S	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	92					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTTCAGTATGCCACTGCCTGA	0.567																																						uc001clp.2																			0				ovary(1)|skin(1)	2						c.(274-276)CCA>TCA		zinc finger protein 393							90.0	88.0	89.0					1																	44595217		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595217C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.274C>T	1.37:g.44595217C>T	ENSP00000361373:p.Pro92Ser					KLF17_uc009vxf.1_Missense_Mutation_p.P55S	p.P92S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	332	+	Acute lymphoblastic leukemia(166;0.155)		92					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.274C>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.431510	0.01108	.	.	ENSG00000171872	ENST00000372299	T	0.05717	3.4	3.96	-1.89	0.07689	.	1.220280	0.06001	N	0.647745	T	0.02012	0.0063	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44787	-0.9305	10	0.12103	T	0.63	.	1.1851	0.01854	0.1711:0.1255:0.3514:0.3521	.	92	Q5JT82	KLF17_HUMAN	S	92	ENSP00000361373:P92S	ENSP00000361373:P92S	P	+	1	0	KLF17	44367804	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.102000	0.03332	-0.338000	0.08413	-0.894000	0.02916	CCA		0.567	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	
TESK2	10420	broad.mit.edu	37	1	45923297	45923297	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:45923297G>A	ENST00000372086.3	-	2	561	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TESK2_ENST00000341771.6_Missense_Mutation_p.T54M|TESK2_ENST00000372084.1_Missense_Mutation_p.T54M|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000451835.2_Missense_Mutation_p.T54M|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	54					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATCCAAACGCGTCAGTCTGGA	0.453																																						uc001cns.1																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(160-162)ACG>ATG		testis-specific protein kinase 2							125.0	122.0	123.0					1																	45923297		1903	4112	6015	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45923297G>A	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.161C>T	1.37:g.45923297G>A	ENSP00000361158:p.Thr54Met					TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_Translation_Start_Site|TESK2_uc010olp.1_Missense_Mutation_p.T54M	p.T54M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			2	564	-	Acute lymphoblastic leukemia(166;0.155)		54					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.161C>T	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770357	0.49680	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	D;T;D;T	0.89270	-2.49;-0.74;-2.49;3.28	5.06	5.06	0.68205	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	D	0.84633	0.5515	N	0.20986	0.625	0.54753	D	0.999981	P;P;P	0.50819	0.507;0.939;0.899	B;P;B	0.45232	0.071;0.474;0.372	D	0.84785	0.0775	10	0.34782	T	0.22	-7.3995	18.4182	0.90577	0.0:0.0:1.0:0.0	.	54;54;54	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	M	54	ENSP00000361156:T54M;ENSP00000361158:T54M;ENSP00000343940:T54M;ENSP00000397244:T54M	ENSP00000343940:T54M	T	-	2	0	TESK2	45695884	1.000000	0.71417	0.954000	0.39281	0.984000	0.73092	9.444000	0.97578	2.365000	0.80145	0.585000	0.79938	ACG		0.453	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170	
AP4B1	10717	broad.mit.edu	37	1	114438528	114438528	+	Missense_Mutation	SNP	G	G	A	rs149723440		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:114438528G>A	ENST00000369569.1	-	9	1923	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.P548L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.P380L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	548					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTCTGCCGGATCCTCCAA	0.498																																						uc001eeb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(1642-1644)CCG>CTG		adaptor-related protein complex 4, beta 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	83.0	82.0	82.0		1643	4.8	1.0	1	dbSNP_134	82	0,8600		0,0,4300	no	missense	AP4B1	NM_006594.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	548/740	114438528	1,13005	2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438528G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1643C>T	1.37:g.114438528G>A	ENSP00000358582:p.Pro548Leu					uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.P380L|AP4B1_uc001eed.2_Missense_Mutation_p.P548L|AP4B1_uc010owp.1_Missense_Mutation_p.P449L|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.P75L	p.P548L	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1786	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	548					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1643C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041241	0.35989	2.27E-4	0.0	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.11821	2.74;2.74;2.74	5.86	4.76	0.60689	Armadillo-type fold (1);	0.276251	0.42548	D	0.000696	T	0.01870	0.0059	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34378	-0.9831	10	0.02654	T	1	.	12.9006	0.58123	0.0:0.0:0.1511:0.8488	.	548;380;548	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	L	380;548;548	ENSP00000358580:P380L;ENSP00000358582:P548L;ENSP00000256658:P548L	ENSP00000256658:P548L	P	-	2	0	AP4B1	114240051	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.750000	0.47500	1.090000	0.41315	0.563000	0.77884	CCG		0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594	
SPTA1	6708	broad.mit.edu	37	1	158653172	158653172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:158653172C>G	ENST00000368147.4	-	3	559	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	127				Missing (in Ref. 3; AAA60575). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCGTTTCTTCGTGGGCAGAA	0.388																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(379-381)GAA>CAA		spectrin, alpha, erythrocytic 1							207.0	183.0	190.0					1																	158653172		1835	4092	5927	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158653172C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.379G>C	1.37:g.158653172C>G	ENSP00000357129:p.Glu127Gln						p.E127Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			3	578	-	all_hematologic(112;0.0378)		127	Missing (in Ref. 3; AAA60575).		Spectrin 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.379G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945634	0.53079	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	6.17	5.27	0.74061	.	0.254426	0.20534	N	0.090457	T	0.54255	0.1847	M	0.65975	2.015	0.54753	D	0.999982	P	0.41366	0.747	P	0.57425	0.82	T	0.55648	-0.8108	10	0.45353	T	0.12	.	14.3174	0.66460	0.0:0.9289:0.0:0.0711	.	127	P02549	SPTA1_HUMAN	Q	127	ENSP00000357130:E127Q;ENSP00000357129:E127Q	ENSP00000357129:E127Q	E	-	1	0	SPTA1	156919796	1.000000	0.71417	0.974000	0.42286	0.009000	0.06853	4.823000	0.62694	1.632000	0.50472	0.655000	0.94253	GAA		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
ANGPTL1	9068	broad.mit.edu	37	1	178834371	178834371	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:178834371A>G	ENST00000234816.2	-	3	988	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S181P|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	181					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCAGTCAAGGAAGCGTATTTC	0.423																																						uc001gma.2																			0					0						c.(541-543)TCC>CCC		angiopoietin-like 1 precursor							107.0	94.0	99.0					1																	178834371		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834371A>G	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.541T>C	1.37:g.178834371A>G	ENSP00000234816:p.Ser181Pro					RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	p.S181P	NM_004673	NP_004664	O95841	ANGL1_HUMAN			3	1017	-			181					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.541T>C	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386917	0.25031	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.55234	0.53;0.53	5.32	4.15	0.48705	.	0.399938	0.28683	N	0.014485	T	0.41604	0.1166	L	0.36672	1.1	0.28578	N	0.910262	B	0.31435	0.323	B	0.30943	0.122	T	0.30238	-0.9985	10	0.33141	T	0.24	.	11.8306	0.52293	0.6578:0.3421:0.0:0.0	.	181	O95841	ANGL1_HUMAN	P	181;181;145	ENSP00000234816:S181P;ENSP00000356601:S181P	ENSP00000234816:S181P	S	-	1	0	ANGPTL1	177100994	0.835000	0.29415	0.778000	0.31720	0.996000	0.88848	1.509000	0.35780	0.908000	0.36671	0.528000	0.53228	TCC		0.423	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673	
OBSCN	84033	broad.mit.edu	37	1	228431145	228431145	+	Missense_Mutation	SNP	G	G	T	rs553600555		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228431145G>T	ENST00000422127.1	+	10	3235	c.3191G>T	c.(3190-3192)cGc>cTc	p.R1064L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1156L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1064L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1064	Ig-like 10.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCTCCTTCCGCCTGCACATC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19073	0.0		0.0	False		,,,				2504	0.0					uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3190-3192)CGC>CTC		obscurin, cytoskeletal calmodulin and							30.0	33.0	32.0					1																	228431145		2036	4173	6209	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228431145G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3191G>T	1.37:g.228431145G>T	ENSP00000409493:p.Arg1064Leu					OBSCN_uc001hsn.2_Missense_Mutation_p.R1064L	p.R1064L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			10	3235	+		Prostate(94;0.0405)	1064			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3191G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	1.647	-0.514968	0.04200	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04406	3.63;3.63	5.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.569810	0.04348	U	0.355173	T	0.11879	0.0289	L	0.60455	1.87	0.22571	N	0.998976	P;D	0.60160	0.526;0.987	B;P	0.49683	0.179;0.619	T	0.44345	-0.9334	10	0.39692	T	0.17	.	17.8823	0.88844	0.2306:0.0:0.7694:0.0	.	1064;1064	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1064	ENSP00000284548:R1064L;ENSP00000409493:R1064L	ENSP00000284548:R1064L	R	+	2	0	OBSCN	226497768	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.770000	0.04705	-1.359000	0.02174	-1.641000	0.00772	CGC		0.552	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228557713	228557713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228557713G>A	ENST00000422127.1	+	91	20082	c.20038G>A	c.(20038-20040)Gtg>Atg	p.V6680M	OBSCN_ENST00000570156.2_Missense_Mutation_p.V7637M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V4314M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6680	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGGGCGCGTGTCATGGAG	0.642																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(20038-20040)GTG>ATG		obscurin, cytoskeletal calmodulin and							65.0	67.0	66.0					1																	228557713		1991	4151	6142	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557713G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20038G>A	1.37:g.228557713G>A	ENSP00000409493:p.Val6680Met					OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	p.V6680M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			91	20082	+		Prostate(94;0.0405)	6680			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20038G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.808300|1.808300	0.31961|0.31961	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	T|T;T	0.66099|0.40476	-0.19|1.03;1.03	4.72|4.72	1.55|1.55	0.23275|0.23275	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	T|T	0.42832|0.42832	0.1220|0.1220	L|L	0.43598|0.43598	1.365|1.365	0.44006|0.44006	D|D	0.996716|0.996716	.|D	.|0.64830	.|0.994	.|P	.|0.56514	.|0.8	T|T	0.31364|0.31364	-0.9946|-0.9946	7|9	0.45353|0.51188	T|T	0.12|0.08	.|.	4.6895|4.6895	0.12774|0.12774	0.2877:0.1776:0.5347:0.0|0.2877:0.1776:0.5347:0.0	.|.	.|6680	.|Q5VST9	.|OBSCN_HUMAN	H|M	1296|6680;4314	ENSP00000388554:R1296H|ENSP00000409493:V6680M;ENSP00000355668:V4314M	ENSP00000388554:R1296H|ENSP00000355668:V4314M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226624336|226624336	0.004000|0.004000	0.15560|0.15560	0.991000|0.991000	0.47740|0.47740	0.096000|0.096000	0.18686|0.18686	0.254000|0.254000	0.18314|0.18314	0.591000|0.591000	0.29711|0.29711	0.455000|0.455000	0.32223|0.32223	CGT|GTG		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
LYST	1130	broad.mit.edu	37	1	235938388	235938388	+	Splice_Site	SNP	T	T	A	rs557545474		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:235938388T>A	ENST00000389794.3	-	18	5635		c.e18-2		LYST_ENST00000536965.1_Splice_Site|LYST_ENST00000389793.2_Splice_Site			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCAACAACCTAAAAAAAAAA	0.313																																						uc001hxj.2																			0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.e18-1		lysosomal trafficking regulator							58.0	60.0	59.0					1																	235938388		2203	4296	6499	SO:0001630	splice_region_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235938388T>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5461-2A>T	1.37:g.235938388T>A						LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site	p.V1821_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		18	5636	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)						O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Splice_Site	SNP	ENST00000389794.3	37	c.5461_splice	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463555	0.43736	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9914	0.71390	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYST	234005011	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	7.655000	0.83696	2.014000	0.59158	0.477000	0.44152	.		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		Intron
CHRM3	1131	broad.mit.edu	37	1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:240072235C>T	ENST00000255380.4	+	5	2263	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	495					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCTCAGTGCGATCTTGCTT	0.493																																						uc001hyp.2																			0				ovary(4)|skin(1)	5						c.(1483-1485)GCG>GTG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						150.0	138.0	142.0					1																	240072235		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072235C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1484C>T	1.37:g.240072235C>T	ENSP00000255380:p.Ala495Val						p.A495V	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2263	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	495			Helical; Name=6; (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1484C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659170	0.88154	.	.	ENSG00000133019	ENST00000255380	T	0.33654	1.4	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70626	-0.4820	10	0.72032	D	0.01	-18.2966	20.1653	0.98150	0.0:1.0:0.0:0.0	.	495	P20309	ACM3_HUMAN	V	495	ENSP00000255380:A495V	ENSP00000255380:A495V	A	+	2	0	CHRM3	238138858	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GCG		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
HNRNPU	3192	broad.mit.edu	37	1	245022048	245022050	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:245022048_245022050delCAT	ENST00000283179.9	-	6	1374_1376	c.1211_1213delATG	c.(1210-1215)gatgtg>gtg	p.D404del	HNRNPU_ENST00000444376.2_In_Frame_Del_p.D385del			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	404	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATGTAATCACATCATTTTCATC	0.31																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			0					0						c.(1210-1215)GATGTG>GTG		heterogeneous nuclear ribonucleoprotein U																																				SO:0001651	inframe_deletion	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245022048_245022050delCAT	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1211_1213delATG	1.37:g.245022051_245022053delCAT	ENSP00000283179:p.Asp404del					HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del|HNRNPU_uc001ibb.1_In_Frame_Del_p.D92del	p.D404del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		6	1429_1431	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		404			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	c.1211_1213delATG	CCDS41479.1																																																																																				0.310	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
PRKCQ	5588	broad.mit.edu	37	10	6553040	6553040	+	Missense_Mutation	SNP	C	C	T	rs148376969		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:6553040C>T	ENST00000263125.5	-	3	334	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	PRKCQ_ENST00000397176.2_Missense_Mutation_p.V79M|PRKCQ_ENST00000539722.1_De_novo_Start_OutOfFrame	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	79	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATGAGGTCCACGTTTTTGCCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19946	0.0		0.001	False		,,,				2504	0.0				Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1																			0				ovary(3)|lung(2)|large_intestine(1)	6						c.(235-237)GTG>ATG		protein kinase C, theta		C	MET/VAL,MET/VAL	0,4406		0,0,2203	247.0	208.0	221.0		235,235	2.4	1.0	10	dbSNP_134	221	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRKCQ	NM_001242413.1,NM_006257.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	79/644,79/707	6553040	1,13005	2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6553040C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.235G>A	10.37:g.6553040C>T	ENSP00000263125:p.Val79Met					PRKCQ_uc009xim.1_Missense_Mutation_p.V79M|PRKCQ_uc001iji.1_Missense_Mutation_p.V112M|PRKCQ_uc009xin.1_Missense_Mutation_p.V43M|PRKCQ_uc010qax.1_Translation_Start_Site	p.V79M	NM_006257	NP_006248	Q04759	KPCT_HUMAN			3	310	-			79			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.235G>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507304	0.27036	0.0	1.16E-4	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.68624	-0.34;-0.28	5.63	2.44	0.29823	C2 calcium/lipid-binding domain, CaLB (1);	0.322570	0.33161	N	0.005220	T	0.41696	0.1170	N	0.08118	0	0.49687	D	0.999812	B;B	0.28801	0.002;0.223	B;B	0.11329	0.001;0.006	T	0.35895	-0.9770	10	0.52906	T	0.07	.	10.4412	0.44466	0.0:0.7282:0.0:0.2718	.	79;79	Q04759-2;Q04759	.;KPCT_HUMAN	M	79	ENSP00000263125:V79M;ENSP00000380361:V79M	ENSP00000263125:V79M	V	-	1	0	PRKCQ	6593046	0.114000	0.22134	0.973000	0.42090	0.448000	0.32197	1.171000	0.31896	0.751000	0.32900	0.655000	0.94253	GTG		0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
USP6NL	9712	broad.mit.edu	37	10	11505268	11505268	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:11505268G>A	ENST00000609104.1	-	15	2053	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	USP6NL_ENST00000277575.5_Silent_p.N570N|USP6NL_ENST00000379237.2_Silent_p.N576N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	553					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.N570N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCCTGGCACGTTGTCGTACT	0.662																																						uc001ikt.3																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(1657-1659)AAC>AAT		USP6 N-terminal like isoform 1							53.0	57.0	55.0					10																	11505268		2080	4194	6274	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505268G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1659C>T	10.37:g.11505268G>A						USP6NL_uc001iks.1_Silent_p.N570N	p.N553N	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	1980	-			553					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1659C>T	CCDS53492.1																																																																																				0.662	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688	
PPP3CB	5532	broad.mit.edu	37	10	75204531	75204531	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:75204531T>A	ENST00000360663.5	-	12	1429	c.1318A>T	c.(1318-1320)Atg>Ttg	p.M440L	PPP3CB_ENST00000394822.2_Missense_Mutation_p.M458L|PPP3CB_ENST00000545874.1_Missense_Mutation_p.M355L|PPP3CB_ENST00000394828.2_Missense_Mutation_p.M441L|PPP3CB_ENST00000342558.3_Missense_Mutation_p.M440L|PPP3CB_ENST00000544628.1_Missense_Mutation_p.M68L|PPP3CB_ENST00000394829.2_Missense_Mutation_p.M441L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	440					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTAGGCAACATCCCTGTGGGA	0.483																																						uc001jue.2																			0				skin(1)	1						c.(1318-1320)ATG>TTG		protein phosphatase 3, catalytic subunit, beta							186.0	125.0	146.0					10																	75204531		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75204531T>A	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1318A>T	10.37:g.75204531T>A	ENSP00000353881:p.Met440Leu					PPP3CB_uc001juf.2_Missense_Mutation_p.M441L|PPP3CB_uc001jug.2_Missense_Mutation_p.M441L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc010qkj.1_Missense_Mutation_p.M68L	p.M440L	NM_021132	NP_066955	P16298	PP2BB_HUMAN			12	1453	-	Prostate(51;0.0119)		440					P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1318A>T	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636140	0.47049	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56;3.56;3.56	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	L	0.34521	1.04	0.51482	D	0.999923	B;B;B;P;B	0.40083	0.082;0.0;0.0;0.702;0.0	B;B;B;P;B	0.56563	0.096;0.002;0.0;0.801;0.001	T	0.21245	-1.0251	10	0.32370	T	0.25	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	458;355;440;441;440	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	L	440;441;441;112;68;102;440;355;458	ENSP00000353881:M440L;ENSP00000378306:M441L;ENSP00000378305:M441L;ENSP00000437596:M68L;ENSP00000343147:M440L;ENSP00000439876:M355L;ENSP00000378299:M458L	ENSP00000343147:M440L	M	-	1	0	PPP3CB	74874537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	ATG		0.483	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:89692922T>C	ENST00000371953.3	+	5	1763	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		63	Whole gene deletion(37)|Deletion - Frameshift(10)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.C136Y(7)|p.R55fs*1(4)|p.C136F(3)|p.I135fs*44(3)|p.C136fs*1(2)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.C136R(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(15)|endometrium(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|bone(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM004336	PTEN	M		c.(406-408)TGT>CGT		phosphatase and tensin homolog							125.0	118.0	121.0					10																	89692922		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692922T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.406T>C	10.37:g.89692922T>C	ENSP00000361021:p.Cys136Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.C136R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1437	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.406T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391056	0.82902	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98283	1.0509	9	.	.	.	-4.1412	15.1019	0.72284	0.0:0.0:0.0:1.0	.	136	P60484	PTEN_HUMAN	R	136	ENSP00000361021:C136R	.	C	+	1	0	PTEN	89682902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TGT		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MMP21	118856	broad.mit.edu	37	10	127456157	127456157	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:127456157C>G	ENST00000368808.3	-	6	1353	c.1354G>C	c.(1354-1356)Gac>Cac	p.D452H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	452					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AACGCCGTGTCTAGGGGACTT	0.443																																						uc001liu.2																			0				ovary(2)	2						c.(1354-1356)GAC>CAC		matrix metalloproteinase 21 preproprotein							158.0	151.0	153.0					10																	127456157		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127456157C>G	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1354G>C	10.37:g.127456157C>G	ENSP00000357798:p.Asp452His						p.D452H	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			6	1354	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	452			Hemopexin-like 3.		Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.1354G>C	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184547	0.57909	.	.	ENSG00000154485	ENST00000368808	T	0.08546	3.08	5.75	5.75	0.90469	Hemopexin/matrixin (2);	0.054567	0.64402	D	0.000001	T	0.33614	0.0869	M	0.90198	3.095	0.47621	D	0.999479	D	0.89917	1.0	D	0.78314	0.991	T	0.14839	-1.0458	10	0.87932	D	0	-2.8346	10.8128	0.46557	0.0:0.9145:0.0:0.0855	.	452	Q8N119	MMP21_HUMAN	H	452	ENSP00000357798:D452H	ENSP00000357798:D452H	D	-	1	0	MMP21	127446147	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	2.981000	0.49329	2.719000	0.93026	0.655000	0.94253	GAC		0.443	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
OR52E6	390078	broad.mit.edu	37	11	5862602	5862602	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:5862602T>G	ENST00000329322.5	-	1	525	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	OR52E6_ENST00000379946.2_Missense_Mutation_p.I180L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATGAGGGATGATACGATGT	0.483																																						uc010qzq.1																			0				central_nervous_system(1)	1						c.(526-528)ATC>CTC		olfactory receptor, family 52, subfamily E,							144.0	133.0	137.0					11																	5862602		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862602T>G	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.526A>C	11.37:g.5862602T>G	ENSP00000328878:p.Ile176Leu					TRIM5_uc001mbq.1_Intron	p.I176L	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	526	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	176			Extracellular (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.526A>C	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	T	9.635	1.137416	0.21123	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00188	8.59;8.59	3.45	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.105039	0.41712	N	0.000838	T	0.00241	0.0007	L	0.38733	1.17	0.09310	N	1	P	0.46706	0.883	P	0.52554	0.702	T	0.50800	-0.8785	10	0.52906	T	0.07	.	8.6471	0.34011	0.0:0.0:0.3717:0.6282	.	176	Q96RD3	O52E6_HUMAN	L	176;180	ENSP00000328878:I176L;ENSP00000369279:I180L	ENSP00000328878:I176L	I	-	1	0	OR52E6	5819178	0.124000	0.22315	0.007000	0.13788	0.027000	0.11550	0.771000	0.26633	0.392000	0.25172	-0.486000	0.04755	ATC		0.483	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167	
CD44	960	broad.mit.edu	37	11	35232846	35232846	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:35232846A>G	ENST00000428726.2	+	14	1783	c.1660A>G	c.(1660-1662)Act>Gct	p.T554A	CD44_ENST00000433892.2_Missense_Mutation_p.T305A|CD44_ENST00000415148.2_Missense_Mutation_p.T511A|CD44_ENST00000434472.2_Missense_Mutation_p.T241A|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.T526A|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.T511A|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Intron|RP1-68D18.2_ENST00000510619.2_RNA|RP1-68D18.4_ENST00000528869.1_RNA	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	554	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TGAAGGCTCAACTACTTTACT	0.463																																						uc001mvu.2																			0				pancreas(1)	1						c.(1660-1662)ACT>GCT		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						218.0	202.0	207.0					11																	35232846		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35232846A>G	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1660A>G	11.37:g.35232846A>G	ENSP00000398632:p.Thr554Ala					CD44_uc001mvv.2_Missense_Mutation_p.T511A|CD44_uc001mvw.2_Missense_Mutation_p.T305A|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.T241A|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.T118A|CD44_uc010ret.1_RNA|CD44_uc010reu.1_Missense_Mutation_p.T82A	p.T554A	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		14	2094	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	554			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1660A>G	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	A	7.346	0.621889	0.14193	.	.	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000526000;ENST00000533222;ENST00000528672	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.87	-4.19	0.03835	.	0.251647	0.33813	N	0.004536	T	0.11580	0.0282	N	0.12569	0.235	0.37470	D	0.915587	B;B;B;B	0.31435	0.323;0.021;0.006;0.004	B;B;B;B	0.28139	0.086;0.009;0.011;0.007	T	0.03278	-1.1053	10	0.44086	T	0.13	-9.7049	12.6786	0.56908	0.4732:0.0:0.5268:0.0	.	241;305;511;554	P16070-11;P16070-10;P16070-4;P16070	.;.;.;CD44_HUMAN	A	511;526;511;554;305;241;188;180;162	ENSP00000389830:T511A;ENSP00000414567:T526A;ENSP00000391008:T511A;ENSP00000398632:T554A;ENSP00000392331:T305A;ENSP00000404447:T241A;ENSP00000434465:T188A;ENSP00000435321:T180A;ENSP00000431860:T162A	ENSP00000389830:T511A	T	+	1	0	CD44	35189422	0.077000	0.21312	0.010000	0.14722	0.002000	0.02628	-0.455000	0.06762	-0.702000	0.05056	-0.250000	0.11733	ACT		0.463	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	
SLC22A9	114571	broad.mit.edu	37	11	63149746	63149746	+	Missense_Mutation	SNP	C	C	T	rs141060614		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:63149746C>T	ENST00000279178.3	+	6	1319	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	357					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGTCCTTTACGAGGTAAGCT	0.403																																						uc001nww.2																			0				breast(2)|large_intestine(1)	3						c.(1069-1071)ACG>ATG		solute carrier family 22 (organic anion/cation		C	MET/THR	2,4400	4.2+/-10.8	0,2,2199	174.0	142.0	153.0		1070	1.2	1.0	11	dbSNP_134	153	0,8596		0,0,4298	yes	missense	SLC22A9	NM_080866.2	81	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	357/554	63149746	2,12996	2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63149746C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1070C>T	11.37:g.63149746C>T	ENSP00000279178:p.Thr357Met					SLC22A9_uc001nwx.2_RNA	p.T357M	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			6	1338	+			357			Helical; (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1070C>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154507	0.21371	4.54E-4	0.0	ENSG00000149742	ENST00000279178	T	0.58652	0.32	3.53	1.23	0.21249	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.610238	0.16862	N	0.196494	T	0.25121	0.0610	N	0.01874	-0.695	0.80722	D	1	B	0.17667	0.023	B	0.04013	0.001	T	0.04191	-1.0970	10	0.45353	T	0.12	.	4.6568	0.12622	0.0:0.2788:0.0:0.7212	.	357	Q8IVM8	S22A9_HUMAN	M	357	ENSP00000279178:T357M	ENSP00000279178:T357M	T	+	2	0	SLC22A9	62906322	0.980000	0.34600	0.980000	0.43619	0.336000	0.28762	0.032000	0.13732	0.589000	0.29677	0.134000	0.15878	ACG		0.403	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
HTR3A	3359	broad.mit.edu	37	11	113853886	113853886	+	Missense_Mutation	SNP	G	G	A	rs149715642		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:113853886G>A	ENST00000504030.2	+	5	864	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	HTR3A_ENST00000299961.5_Missense_Mutation_p.R125Q|HTR3A_ENST00000375498.2_Missense_Mutation_p.R146Q|HTR3A_ENST00000506841.2_Missense_Mutation_p.R140Q|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.R146Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	140					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)			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)	GTGTATATTCGGCATCAAGGC	0.542																																						uc010rxb.1																			0					0						c.(436-438)CGG>CAG		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)	A	GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	170.0	149.0	156.0		437,374,437	-6.1	0.0	11	dbSNP_134	156	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	43,43,43	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	146/485,125/464,146/517	113853886	2,12992	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.chr11:113853886G>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.419G>A	11.37:g.113853886G>A	ENSP00000424189:p.Arg140Gln					HTR3A_uc010rxa.1_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.R125Q	p.R146Q	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)	5	670	+		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)	140			Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.437G>A		.	.	.	.	.	.	.	.	.	.	g	7.345	0.621751	0.14193	0.0	2.33E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.39	-6.09	0.02145	.	0.794818	0.11956	N	0.513270	T	0.58163	0.2103	L	0.33137	0.985	0.09310	N	0.999998	B;B;B	0.15473	0.001;0.013;0.006	B;B;B	0.12156	0.004;0.005;0.007	T	0.36792	-0.9733	10	0.32370	T	0.25	-6.0738	4.9325	0.13925	0.5324:0.0933:0.2798:0.0944	.	125;146;146	B4DSY6;G5E986;Q7KZM7	.;.;.	Q	140;146;146;140;125	ENSP00000424189:R140Q;ENSP00000347754:R146Q;ENSP00000364648:R146Q;ENSP00000424776:R140Q;ENSP00000299961:R125Q	ENSP00000299961:R125Q	R	+	2	0	HTR3A	113359096	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.240000	0.08952	-1.663000	0.01481	-2.091000	0.00372	CGG		0.542	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
CACNA1C	775	broad.mit.edu	37	12	2566754	2566754	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:2566754A>G	ENST00000347598.4	+	5	639	c.639A>G	c.(637-639)gaA>gaG	p.E213E	CACNA1C_ENST00000399638.1_Silent_p.E213E|CACNA1C_ENST00000399634.1_Silent_p.E213E|CACNA1C_ENST00000399603.1_Silent_p.E213E|CACNA1C_ENST00000344100.3_Silent_p.E213E|CACNA1C_ENST00000327702.7_Silent_p.E213E|CACNA1C_ENST00000399601.1_Silent_p.E213E|CACNA1C_ENST00000399606.1_Silent_p.E213E|CACNA1C_ENST00000399597.1_Silent_p.E213E|CACNA1C_ENST00000399591.1_Silent_p.E213E|CACNA1C_ENST00000399655.1_Silent_p.E213E|CACNA1C_ENST00000399637.1_Silent_p.E213E|CACNA1C_ENST00000406454.3_Silent_p.E213E|CACNA1C_ENST00000399641.1_Silent_p.E213E|CACNA1C_ENST00000402845.3_Silent_p.E213E|CACNA1C_ENST00000399595.1_Silent_p.E213E|CACNA1C_ENST00000399617.1_Silent_p.E213E|CACNA1C_ENST00000480911.1_Silent_p.E213E|CACNA1C_ENST00000335762.5_Silent_p.E213E|CACNA1C_ENST00000399644.1_Silent_p.E213E|CACNA1C_ENST00000399621.1_Silent_p.E213E|CACNA1C_ENST00000399649.1_Silent_p.E213E|CACNA1C_ENST00000399629.1_Silent_p.E213E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	213					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAATTTTAGAACAAGCAACCA	0.557																																						uc009zdu.1																			0				ovary(10)|central_nervous_system(1)	11						c.(637-639)GAA>GAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						102.0	111.0	108.0					12																	2566754		1929	4124	6053	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566754A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.639A>G	12.37:g.2566754A>G						CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	p.E213E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	952	+			213			Extracellular (Potential).|I.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.639A>G	CCDS44788.1																																																																																				0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
PPFIBP1	8496	broad.mit.edu	37	12	27809558	27809558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:27809558G>A	ENST00000318304.8	+	10	1082	c.799G>A	c.(799-801)Gca>Aca	p.A267T	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A236T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A114T|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A236T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	267					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGATGAACTGGCATCTTTAAA	0.323																																						uc001ric.1																		PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(799-801)GCA>ACA		PTPRF interacting protein binding protein 1							61.0	64.0	63.0					12																	27809558		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27809558G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.799G>A	12.37:g.27809558G>A	ENSP00000314724:p.Ala267Thr					PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.1_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.2_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.1_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	p.A267T	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			10	1176	+	Lung SC(9;0.0873)		267			Potential.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.799G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048932	0.36181	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.35236	2.57;1.32;1.34;1.77;2.57;1.78	5.05	1.06	0.20224	.	0.487974	0.15228	N	0.273590	T	0.26195	0.0639	L	0.55990	1.75	0.34361	D	0.690976	B;B;B;B	0.11235	0.004;0.001;0.004;0.001	B;B;B;B	0.16289	0.015;0.003;0.011;0.007	T	0.22661	-1.0210	10	0.13853	T	0.58	-9.1294	4.6359	0.12525	0.2339:0.0:0.5043:0.2618	.	114;267;236;236	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	T	238;236;95;114;267;236;236	ENSP00000445822:A236T;ENSP00000444304:A95T;ENSP00000445425:A114T;ENSP00000314724:A267T;ENSP00000443442:A236T;ENSP00000228425:A236T	ENSP00000228425:A236T	A	+	1	0	PPFIBP1	27700825	0.994000	0.37717	0.997000	0.53966	0.916000	0.54674	0.374000	0.20501	0.241000	0.21283	0.655000	0.94253	GCA		0.323	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	
MDM2	4193	broad.mit.edu	37	12	69210697	69210697	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:69210697G>A	ENST00000350057.5	+	2	187	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V88M|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V94M|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.V94M			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	88	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTTGGCGTGCCAAGCTT	0.363			A		"""sarcoma, glioma, colorectal, other"""																																	uc001sui.2				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			sarcoma|glioma|colorectal|other		0				lung(2)|central_nervous_system(1)	3						c.(280-282)GTG>ATG		mouse double minute 2 homolog isoform MDM2							98.0	92.0	93.0					12																	69210697		1843	4087	5930	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69210697G>A		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.187G>A	12.37:g.69210697G>A	ENSP00000266624:p.Val63Met					MDM2_uc009zri.2_Intron|MDM2_uc009zqx.2_Missense_Mutation_p.V94M|MDM2_uc009zqw.2_Missense_Mutation_p.V94M|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.V88M|MDM2_uc009zra.2_Intron|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	p.V94M	NM_002392	NP_002383	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	567	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		88			Necessary for interaction with USP2.|SWIB.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.962862	0.74016	.	.	ENSG00000135679	ENST00000462284;ENST00000258149;ENST00000311440;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T;T;T	0.55760	1.08;0.56;0.55;0.5;1.09	5.22	5.22	0.72569	SWIB/MDM2 domain (2);	0.058241	0.64402	D	0.000002	T	0.72882	0.3516	M	0.74881	2.28	0.80722	D	1	D;P;D;D	0.89917	0.988;0.942;0.998;1.0	P;P;D;D	0.77004	0.751;0.783;0.913;0.989	T	0.72427	-0.4297	9	.	.	.	4.3846	18.424	0.90602	0.0:0.0:1.0:0.0	.	88;94;88;94	Q00987;G3XA89;Q8NDW2;Q00987-11	MDM2_HUMAN;.;.;.	M	94;88;88;94;88;88;119;63	ENSP00000417281:V94M;ENSP00000258149:V88M;ENSP00000258148:V94M;ENSP00000444430:V88M;ENSP00000266624:V63M	.	V	+	1	0	MDM2	67496964	1.000000	0.71417	0.773000	0.31616	0.420000	0.31355	8.356000	0.90085	2.817000	0.96982	0.563000	0.77884	GTG		0.363	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	
TPH2	121278	broad.mit.edu	37	12	72366329	72366329	+	Silent	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:72366329T>A	ENST00000333850.3	+	6	780	c.639T>A	c.(637-639)acT>acA	p.T213T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	213					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGGAGTATACTGAAGAAGAAA	0.428																																						uc009zrw.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(637-639)ACT>ACA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						206.0	221.0	216.0					12																	72366329		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72366329T>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.639T>A	12.37:g.72366329T>A						TPH2_uc001swy.2_Silent_p.T123T	p.T213T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			6	780	+			213					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.639T>A	CCDS31859.1																																																																																				0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
MYF5	4617	broad.mit.edu	37	12	81111228	81111228	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:81111228G>A	ENST00000228644.3	+	1	538	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	129	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATGCCATCCGCTACATCGAG	0.587																																						uc001szg.2																			0				ovary(1)	1						c.(385-387)CGC>CAC		myogenic factor 5							92.0	91.0	92.0					12																	81111228		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111228G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.386G>A	12.37:g.81111228G>A	ENSP00000228644:p.Arg129His						p.R129H	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	521	+			129			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.386G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999688	0.54147	.	.	ENSG00000111049	ENST00000228644	D	0.97994	-4.65	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.103424	0.64402	D	0.000004	D	0.95059	0.8400	L	0.37507	1.11	0.38444	D	0.946788	B	0.30511	0.282	B	0.28784	0.094	D	0.93810	0.7109	10	0.54805	T	0.06	-7.3133	13.7717	0.63029	0.0697:0.0:0.9303:0.0	.	129	P13349	MYF5_HUMAN	H	129	ENSP00000228644:R129H	ENSP00000228644:R129H	R	+	2	0	MYF5	79635359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.858000	0.69532	2.882000	0.98803	0.655000	0.94253	CGC		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
STAB2	55576	broad.mit.edu	37	12	104089589	104089589	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:104089589G>T	ENST00000388887.2	+	33	3753	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCCATCGAGAATTACATCA	0.403																																						uc001tjw.2																			0				ovary(9)|skin(5)	14						c.(3547-3549)GAG>GAT		stabilin 2 precursor							111.0	109.0	110.0					12																	104089589		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089589G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3549G>T	12.37:g.104089589G>T	ENSP00000373539:p.Glu1183Asp						p.E1183D	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			33	3735	+			1183			Extracellular (Potential).|FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3549G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801215	0.50315	.	.	ENSG00000136011	ENST00000388887	D	0.90385	-2.66	6.17	5.28	0.74379	FAS1 domain (5);Growth factor, receptor (1);	0.752143	0.12999	N	0.421788	D	0.85873	0.5798	L	0.42581	1.335	0.24338	N	0.99498	B	0.27910	0.193	B	0.31442	0.13	T	0.74134	-0.3763	10	0.22109	T	0.4	.	7.1991	0.25871	0.1584:0.1423:0.6993:0.0	.	1183	Q8WWQ8	STAB2_HUMAN	D	1183	ENSP00000373539:E1183D	ENSP00000373539:E1183D	E	+	3	2	STAB2	102613719	0.999000	0.42202	0.984000	0.44739	0.801000	0.45260	1.857000	0.39399	1.598000	0.50083	0.655000	0.94253	GAG		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
LHX5	64211	broad.mit.edu	37	12	113905175	113905175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:113905175C>T	ENST00000261731.3	-	4	1300	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	243					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGCCTAGGGCGCTCAGCTGT	0.652																																						uc001tvj.1																			0					0						c.(727-729)GCC>ACC		LIM homeobox protein 5							20.0	21.0	21.0					12																	113905175		2198	4296	6494	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113905175C>T	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.727G>A	12.37:g.113905175C>T	ENSP00000261731:p.Ala243Thr						p.A243T	NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN			4	1301	-			243					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.727G>A	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136221	0.77662	.	.	ENSG00000089116	ENST00000261731	D	0.91521	-2.86	4.84	3.92	0.45320	.	0.000000	0.52532	D	0.000069	D	0.85336	0.5673	L	0.35487	1.065	0.80722	D	1	B	0.23806	0.091	B	0.15870	0.014	T	0.81536	-0.0888	10	0.56958	D	0.05	.	14.4493	0.67374	0.0:0.8513:0.1487:0.0	.	243	Q9H2C1	LHX5_HUMAN	T	243	ENSP00000261731:A243T	ENSP00000261731:A243T	A	-	1	0	LHX5	112389558	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	7.668000	0.83897	0.977000	0.38444	0.561000	0.74099	GCC		0.652	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363	
RIMBP2	23504	broad.mit.edu	37	12	130927111	130927111	+	Silent	SNP	G	G	A	rs142303116	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:130927111G>A	ENST00000261655.4	-	8	898	c.735C>T	c.(733-735)aaC>aaT	p.N245N	RIMBP2_ENST00000535703.1_Silent_p.N153N|RIMBP2_ENST00000536002.1_Silent_p.N153N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	245					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GATCCTGCTCGTTCCCCAGCG	0.602													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18310	0.002		0.0	False		,,,				2504	0.0					uc001uil.2																			0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(733-735)AAC>AAT		RIM-binding protein 2		G		5,4401	11.4+/-27.6	0,5,2198	168.0	161.0	163.0		735	-9.1	0.0	12	dbSNP_134	163	0,8600		0,0,4300	no	coding-synonymous	RIMBP2	NM_015347.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		245/1053	130927111	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927111G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.735C>T	12.37:g.130927111G>A						RIMBP2_uc001uim.2_Silent_p.N153N|RIMBP2_uc001uin.1_Translation_Start_Site	p.N245N	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	899	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	245					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.735C>T	CCDS31925.1																																																																																				0.602	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
COG6	57511	broad.mit.edu	37	13	40293942	40293942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr13:40293942G>A	ENST00000455146.3	+	15	1612	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	COG6_ENST00000416691.1_Missense_Mutation_p.R521H	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	521					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACTGACAGACGTCTGGAAATG	0.343																																						uc001uxh.2																			0				kidney(1)|skin(1)	2						c.(1561-1563)CGT>CAT		component of oligomeric golgi complex 6 isoform							78.0	75.0	76.0					13																	40293942		2203	4300	6503	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40293942G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1562G>A	13.37:g.40293942G>A	ENSP00000397441:p.Arg521His					COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	p.R521H	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	15	1662	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	521					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1562G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394961	0.62066	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.55588	0.51;0.51	5.36	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.48174	1.505	0.80722	D	1	P;B	0.38729	0.644;0.35	B;B	0.34489	0.139;0.184	T	0.27262	-1.0079	10	0.20046	T	0.44	-10.4231	13.4047	0.60906	0.0758:0.0:0.9242:0.0	.	542;521	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	H	521;552;521	ENSP00000403733:R521H;ENSP00000397441:R521H	ENSP00000255468:R552H	R	+	2	0	COG6	39191942	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	9.201000	0.95017	1.395000	0.46643	0.655000	0.94253	CGT		0.343	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		
FANCM	57697	broad.mit.edu	37	14	45657010	45657010	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:45657010A>G	ENST00000267430.5	+	19	4784	c.4699A>G	c.(4699-4701)Aaa>Gaa	p.K1567E	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.K1541E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1567					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTTACATGAAATCTTTGCG	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			0				ovary(3)|lung(2)|breast(2)	7						c.(4699-4701)AAA>GAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							51.0	51.0	51.0					14																	45657010		2202	4297	6499	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45657010A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4699A>G	14.37:g.45657010A>G	ENSP00000267430:p.Lys1567Glu					FANCM_uc010anf.2_Missense_Mutation_p.K1541E|FANCM_uc001wwe.3_Missense_Mutation_p.K1103E|FANCM_uc010ang.2_Missense_Mutation_p.K781E	p.K1567E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			19	4798	+			1567					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4699A>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.94|19.94	3.919472|3.919472	0.73098|0.73098	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.79554	.|-1.28;-1.28;-1.28	5.22|5.22	4.01|4.01	0.46588|0.46588	.|.	.|0.053585	.|0.64402	.|D	.|0.000001	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.76002|0.76002	2.32|2.32	0.33936|0.33936	D|D	0.642639|0.642639	.|D;D	.|0.58620	.|0.983;0.983	.|P;P	.|0.51016	.|0.656;0.556	D|D	0.90020|0.90020	0.4127|0.4127	5|10	.|0.72032	.|D	.|0.01	.|.	12.4145|12.4145	0.55486|0.55486	0.8503:0.1497:0.0:0.0|0.8503:0.1497:0.0:0.0	.|.	.|1541;1567	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	G|E	499|1567;1541;1083	.|ENSP00000267430:K1567E;ENSP00000442493:K1541E;ENSP00000452033:K1083E	.|ENSP00000267430:K1567E	E|K	+|+	2|1	0|0	FANCM|FANCM	44726760|44726760	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.754000|4.754000	0.62191|0.62191	1.980000|1.980000	0.57719|0.57719	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.254	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
TBPL2	387332	broad.mit.edu	37	14	55907173	55907173	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:55907173G>A	ENST00000247219.5	-	1	161	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCCATGGACCGTAATCCCACT	0.657																																						uc001xby.2																			0					0						c.(91-93)CGG>TGG		TATA box binding protein like 2							38.0	40.0	39.0					14																	55907173		2167	4254	6421	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55907173G>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.91C>T	14.37:g.55907173G>A	ENSP00000247219:p.Arg31Trp						p.R31W	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			1	91	-			31						Missense_Mutation	SNP	ENST00000247219.5	37	c.91C>T	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219142	0.22373	.	.	ENSG00000182521	ENST00000247219	T	0.48201	0.82	3.12	0.0867	0.14447	.	1.197560	0.06202	N	0.683464	T	0.25680	0.0625	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	10	0.62326	D	0.03	8.6782	3.3652	0.07201	0.4079:0.2083:0.3839:0.0	.	31	Q6SJ96	TBPL2_HUMAN	W	31	ENSP00000247219:R31W	ENSP00000247219:R31W	R	-	1	2	TBPL2	54976926	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.695000	0.25527	0.020000	0.15106	-0.379000	0.06801	CGG		0.657	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047	
HERC2P3	283755	broad.mit.edu	37	15	20649487	20649487	+	RNA	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:20649487G>A	ENST00000428453.1	-	0	2711							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CACCAGAGTCGTCCTCTGTGT	0.562																																						uc001ytg.2																			0											c.(2020-2022)GAC>GAT		RecName: Full=Putative HERC2-like protein 3;							21.0	17.0	19.0					15																	20649487		1509	3154	4663			0							g.chr15:20649487G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649487G>A						uc010tyx.1_RNA|uc001yth.3_Silent_p.D674D|uc010tyy.1_Silent_p.D674D	p.D674D							18	2731	-									Silent	SNP	ENST00000428453.1	37	c.2022C>T																																																																																					0.562	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A	rs201800565		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:42193062G>A	ENST00000220325.4	-	6	1490	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	469	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592																																						uc001zot.2																			0				ovary(2)	2						c.(1405-1407)AAC>AAT		EH-domain containing 4							91.0	74.0	80.0					15																	42193062		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193062G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1407C>T	15.37:g.42193062G>A							p.N469N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	469			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1407C>T	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
RAB11FIP3	9727	broad.mit.edu	37	16	553082	553082	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:553082G>A	ENST00000262305.4	+	7	1768	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	RAB11FIP3_ENST00000450428.1_Silent_p.E164E|RAB11FIP3_ENST00000457159.1_Silent_p.E505E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	460					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCCCAGAGGAGGACATTGCTG	0.622																																					Melanoma(160;2366 2595 4474 8099)	uc002chf.2																			0					0						c.(1378-1380)GAG>GAA		rab11-family interacting protein 3 isoform 1							66.0	67.0	67.0					16																	553082		2201	4300	6501	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:553082G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1380G>A	16.37:g.553082G>A						RAB11FIP3_uc010uuf.1_Silent_p.E164E|RAB11FIP3_uc010uug.1_Silent_p.E195E	p.E460E	NM_014700	NP_055515	O75154	RFIP3_HUMAN			7	1719	+		Hepatocellular(16;0.0218)	460					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.1380G>A	CCDS32351.1																																																																																				0.622	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700	
SCNN1G	6340	broad.mit.edu	37	16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:23226531G>A	ENST00000300061.2	+	13	1834	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	564					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.R564H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587																																						uc002dlm.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1690-1692)CGC>CAC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						92.0	87.0	89.0					16																	23226531		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226531G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1691G>A	16.37:g.23226531G>A	ENSP00000300061:p.Arg564His						p.R564H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1830	+			564			Cytoplasmic (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1691G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	5.103	0.204701	0.09704	.	.	ENSG00000166828	ENST00000300061	T	0.73575	-0.76	5.22	-0.291	0.12843	.	0.550372	0.18016	N	0.154418	T	0.48892	0.1525	N	0.08118	0	0.18873	N	0.999981	B	0.11235	0.004	B	0.06405	0.002	T	0.28235	-1.0050	10	0.15499	T	0.54	-39.1964	10.5884	0.45296	0.4739:0.0:0.5261:0.0	.	564	P51170	SCNNG_HUMAN	H	564	ENSP00000300061:R564H	ENSP00000300061:R564H	R	+	2	0	SCNN1G	23134032	0.000000	0.05858	0.161000	0.22692	0.615000	0.37417	-0.164000	0.09983	-0.292000	0.08999	-0.258000	0.10820	CGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
CES1	1066	broad.mit.edu	37	16	55853460	55853460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:55853460G>A	ENST00000361503.4	-	7	1020	c.890C>T	c.(889-891)aCg>aTg	p.T297M	CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Missense_Mutation_p.T298M|CES1_ENST00000422046.2_Missense_Mutation_p.T297M			P23141	EST1_HUMAN	carboxylesterase 1	297					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTTCAATGTCGTCTCCAAGAG	0.507																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2																			0					0						c.(889-891)ACG>ATG		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						127.0	128.0	128.0					16																	55853460		2198	4298	6496	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55853460G>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.890C>T	16.37:g.55853460G>A	ENSP00000355193:p.Thr297Met					CES1_uc010ccf.2_5'Flank|CES1_uc002eil.2_Missense_Mutation_p.T298M|CES1_uc002ein.2_Missense_Mutation_p.T297M	p.T297M	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	7	998	-			297					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.890C>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.132242	0.37630	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.67865	-0.29;-0.29;-0.29	3.81	-5.55	0.02536	Carboxylesterase, type B (1);	3.712570	0.00751	N	0.001060	T	0.76807	0.4039	L	0.58302	1.8	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.969	T	0.72141	-0.4380	10	0.54805	T	0.06	.	10.3861	0.44140	0.5725:0.0:0.4275:0.0	.	297;297;298	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	M	298;297;297;162	ENSP00000353720:T298M;ENSP00000355193:T297M;ENSP00000390492:T297M	ENSP00000353720:T298M	T	-	2	0	CES1	54410961	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.223000	0.02962	-1.286000	0.02384	0.456000	0.33151	ACG		0.507	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	
CES4A	283848	broad.mit.edu	37	16	67040719	67040719	+	Splice_Site	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:67040719G>A	ENST00000326686.5	+	13	1516	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	CES4A_ENST00000338718.4_Intron|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Splice_Site_p.G436R|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000540579.1_Splice_Site_p.G408R|CES4A_ENST00000541479.1_Splice_Site_p.G459R			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	506						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGCCCGCACAGGGTGAGTCTG	0.567																																						uc002eqv.2																			0					0						c.(1306-1308)GGA>AGA		carboxylesterase 8 (putative)							79.0	83.0	82.0					16																	67040719		2041	4209	6250	SO:0001630	splice_region_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67040719G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1517+1G>A	16.37:g.67040719G>A						CES8_uc010vix.1_Intron|CES8_uc002eqw.2_Intron|CES8_uc002eqy.2_Missense_Mutation_p.G408R|CES8_uc002eqx.2_Missense_Mutation_p.G312R|CES8_uc010viy.1_Intron|CES8_uc010viz.1_Missense_Mutation_p.G408R|CES8_uc002eqz.2_Intron	p.G436R	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN			11	1349	+			506					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1306G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.218678	0.79464	.	.	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.41	4.45	0.53987	.	0.000000	0.40728	U	0.001026	D	0.89033	0.6600	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91031	0.4864	10	0.87932	D	0	.	11.9119	0.52743	0.086:0.0:0.914:0.0	.	459	F5H5S4	.	R	459;436;506;399;408	ENSP00000443175:G459R;ENSP00000381397:G436R;ENSP00000314145:G506R;ENSP00000441103:G399R;ENSP00000441907:G408R	ENSP00000314145:G506R	G	+	1	0	CES4A	65598220	1.000000	0.71417	0.983000	0.44433	0.790000	0.44656	7.622000	0.83099	1.264000	0.44198	0.591000	0.81541	GGA		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	Missense_Mutation
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						uc002htw.2																			2	Substitution - Missense(2)		kidney(2)		0						c.(235-237)CGC>CAC		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.2_Missense_Mutation_p.R79H|THRA_uc002htx.2_Missense_Mutation_p.R79H	p.R79H	NM_003250	NP_003241	P10827	THA_HUMAN			5	719	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79			Nuclear receptor.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2		
ASPSCR1	79058	broad.mit.edu	37	17	79953896	79953896	+	Missense_Mutation	SNP	C	C	T	rs372730667		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:79953896C>T	ENST00000306739.4	+	6	558	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.T154M|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.T77M	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	154					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCGGGGCACGACGCTGCAG	0.657			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(460-462)ACG>ATG		alveolar soft part sarcoma chromosome region,		C	MET/THR	0,4402		0,0,2201	21.0	24.0	23.0		461	3.5	0.2	17		23	1,8591		0,1,4295	no	missense	ASPSCR1	NM_024083.2	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	154/554	79953896	1,12993	2201	4296	6497	SO:0001583	missense	79058						protein binding	g.chr17:79953896C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.461C>T	17.37:g.79953896C>T	ENSP00000302176:p.Thr154Met					ASPSCR1_uc002kcw.1_Missense_Mutation_p.T154M|ASPSCR1_uc002kcy.2_Missense_Mutation_p.T154M|ASPSCR1_uc002kcz.2_Missense_Mutation_p.T154M|ASPSCR1_uc002kda.2_Missense_Mutation_p.T77M|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T77M	p.T154M	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		6	558	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		154					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.461C>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	3.093	-0.186454	0.06340	0.0	1.16E-4	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.33216	1.42;1.42	4.46	3.49	0.39957	.	0.155306	0.64402	N	0.000019	T	0.54967	0.1891	M	0.86028	2.79	0.25974	N	0.982466	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.996;0.998	T	0.47983	-0.9074	10	0.56958	D	0.05	-20.3836	8.7718	0.34737	0.0:0.8956:0.0:0.1044	.	77;77;154;154;77	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	M	154;154;77	ENSP00000302176:T154M;ENSP00000306625:T154M	ENSP00000306625:T154M	T	+	2	0	ASPSCR1	77547185	0.917000	0.31117	0.221000	0.23827	0.001000	0.01503	2.107000	0.41844	1.240000	0.43803	-0.224000	0.12420	ACG		0.657	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	
MIB1	57534	broad.mit.edu	37	18	19345780	19345780	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:19345780A>G	ENST00000261537.6	+	2	541	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	93					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCAGCAACCAATCATTGGCAT	0.378																																						uc002ktq.2																			0				ovary(4)	4						c.(277-279)ATC>GTC		mindbomb homolog 1							143.0	128.0	133.0					18																	19345780		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345780A>G	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.277A>G	18.37:g.19345780A>G	ENSP00000261537:p.Ile93Val					MIB1_uc002ktp.2_5'UTR	p.I93V	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		2	277	+			93			ZZ-type.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.277A>G	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.788209	0.70337	.	.	ENSG00000101752	ENST00000261537	D	0.90324	-2.65	5.79	5.79	0.91817	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.93035	0.7783	M	0.71206	2.165	0.58432	D	0.999999	B	0.25441	0.126	B	0.42555	0.391	D	0.92058	0.5654	10	0.87932	D	0	-4.5359	16.1113	0.81266	1.0:0.0:0.0:0.0	.	93	Q86YT6	MIB1_HUMAN	V	93	ENSP00000261537:I93V	ENSP00000261537:I93V	I	+	1	0	MIB1	17599778	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.008000	0.93601	2.213000	0.71641	0.482000	0.46254	ATC		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
LMAN1	3998	broad.mit.edu	37	18	57022801	57022801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:57022801C>A	ENST00000251047.5	-	2	1021	c.304G>T	c.(304-306)Gag>Tag	p.E102*		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	102	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCCCAGTTCTCAAAGGCCGCT	0.413																																						uc002lhz.2																			0				skin(1)	1						c.(304-306)GAG>TAG		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						129.0	107.0	114.0					18																	57022801		2203	4300	6503	SO:0001587	stop_gained	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57022801C>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.304G>T	18.37:g.57022801C>A	ENSP00000251047:p.Glu102*					LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	p.E102*	NM_005570	NP_005561	P49257	LMAN1_HUMAN			2	336	-		Colorectal(73;0.0946)	102			Lumenal (Potential).|L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Nonsense_Mutation	SNP	ENST00000251047.5	37	c.304G>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.786879	0.96937	.	.	ENSG00000074695	ENST00000251047	.	.	.	5.63	5.63	0.86233	.	0.165885	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-26.9272	14.8644	0.70404	0.0:0.8568:0.1432:0.0	.	.	.	.	X	102	.	ENSP00000251047:E102X	E	-	1	0	LMAN1	55173781	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.730000	0.55006	2.652000	0.90054	0.655000	0.94253	GAG		0.413	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000344663.3_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368																																						uc010xgm.1																			0					0						c.(64-66)GCC>GTC		SubName: Full=MUM1 protein;							116.0	109.0	112.0					19																	1357015		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357015C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val					MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.A23V|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank	p.A22V			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	134	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	22					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.65C>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC		0.368	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853	
TUBB4A	10382	broad.mit.edu	37	19	6502176	6502176	+	Silent	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:6502176G>T	ENST00000264071.2	-	1	419	c.48C>A	c.(46-48)atC>atA	p.I16I	TUBB4A_ENST00000598006.1_Silent_p.I16I|TUBB4A_ENST00000596926.1_Silent_p.I16I|TUBB4A_ENST00000540257.1_Silent_p.I16I|TUBB4A_ENST00000601152.1_Intron			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	16					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CCTTGGCCCCGATCTGGTTGC	0.761																																						uc002mfg.1																			0				ovary(2)	2						c.(46-48)ATC>ATA		tubulin, beta 4							9.0	9.0	9.0					19																	6502176		2174	4241	6415	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6502176G>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.48C>A	19.37:g.6502176G>T						TUBB4_uc002mff.1_5'UTR	p.I16I	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	1	155	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	16					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.48C>A	CCDS12168.1																																																																																				0.761	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
CD209	30835	broad.mit.edu	37	19	7807928	7807928	+	Silent	SNP	C	C	T	rs373806865		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:7807928C>T	ENST00000315599.7	-	7	1234	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CD209_ENST00000602261.1_Silent_p.A312A|CD209_ENST00000601951.1_Silent_p.A380A|CD209_ENST00000354397.6_Silent_p.A398A|CD209_ENST00000301357.8_Silent_p.A268A|CD209_ENST00000593660.1_Silent_p.A334A|CD209_ENST00000593821.1_Silent_p.A268A|CD209_ENST00000204801.8_Silent_p.A360A|CD209_ENST00000394161.5_Silent_p.A168A|CD209_ENST00000315591.8_Silent_p.A380A|CD209_ENST00000394173.4_Silent_p.A243A	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	404					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A404A(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTCTGCTACGCAGGAGGGG	0.502																																						uc002mht.2																			2	Substitution - coding silent(2)		endometrium(2)	skin(1)	1						c.(1210-1212)GCG>GCA		CD209 molecule isoform 1		C	,,,,,,	0,4406		0,0,2203	70.0	75.0	73.0		804,1080,936,1140,1194,729,1212	-4.7	0.0	19		73	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	268/269,360/361,312/313,380/381,398/399,243/244,404/405	7807928	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7807928C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1212G>A	19.37:g.7807928C>T						CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	p.A404A	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			7	1279	-			404			Extracellular (Probable).		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.1212G>A	CCDS12186.1																																																																																				0.502	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						uc002mpz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(604-606)GCC>GTC		coactivator-associated arginine							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	p.A202V	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			5	731	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719	
AKAP8	10270	broad.mit.edu	37	19	15484143	15484143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:15484143C>T	ENST00000269701.2	-	5	440	c.380G>A	c.(379-381)cGc>cAc	p.R127H		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	127					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGCTGGAAGCGGAAGGAGCT	0.607																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			0				ovary(1)|breast(1)	2						c.(379-381)CGC>CAC		A-kinase anchor protein 8							18.0	19.0	19.0					19																	15484143		2202	4300	6502	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15484143C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.380G>A	19.37:g.15484143C>T	ENSP00000269701:p.Arg127His					AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR	p.R127H	NM_005858	NP_005849	O43823	AKAP8_HUMAN			5	441	-			127						Missense_Mutation	SNP	ENST00000269701.2	37	c.380G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	c	17.01	3.278651	0.59758	.	.	ENSG00000105127	ENST00000269701	T	0.62498	0.02	4.82	4.82	0.62117	.	0.000000	0.45606	D	0.000352	T	0.56171	0.1967	M	0.72894	2.215	0.80722	D	1	P	0.43231	0.801	B	0.27500	0.08	T	0.68194	-0.5473	10	0.87932	D	0	-21.1976	15.1765	0.72916	0.0:1.0:0.0:0.0	.	127	O43823	AKAP8_HUMAN	H	127	ENSP00000269701:R127H	ENSP00000269701:R127H	R	-	2	0	AKAP8	15345143	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.661000	0.61518	2.392000	0.81423	0.651000	0.88453	CGC		0.607	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
OR10H4	126541	broad.mit.edu	37	19	16060302	16060302	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:16060302C>T	ENST00000322107.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGGTGACAACGATAGTTTTC	0.502																																						uc010xov.1																			0		p.T162T(1)		ovary(1)|breast(1)	2						c.(484-486)ACG>ATG		olfactory receptor, family 10, subfamily H,							241.0	202.0	215.0					19																	16060302		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060302C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.485C>T	19.37:g.16060302C>T	ENSP00000318834:p.Thr162Met						p.T162M	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	485	+			162			Extracellular (Potential).		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.485C>T	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	N	2.045	-0.419112	0.04766	.	.	ENSG00000176231	ENST00000322107	T	0.00265	8.39	1.53	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	1.568010	0.04672	N	0.410809	T	0.00210	0.0006	L	0.56199	1.76	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.35748	-0.9776	10	0.40728	T	0.16	.	6.7009	0.23225	0.0:0.4541:0.0:0.5459	.	162	Q8NGA5	O10H4_HUMAN	M	162	ENSP00000318834:T162M	ENSP00000318834:T162M	T	+	2	0	OR10H4	15921302	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-4.231000	0.00269	-1.400000	0.02061	-1.523000	0.00931	ACG		0.502	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1		
RCN3	57333	broad.mit.edu	37	19	50042431	50042431	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50042431A>G	ENST00000270645.3	+	5	1121	c.674A>G	c.(673-675)tAc>tGc	p.Y225C		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	225	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGGAGGAGTACATCGGTGAG	0.587																																						uc002poj.2																			0				ovary(1)	1						c.(673-675)TAC>TGC		reticulocalbin 3, EF-hand calcium binding domain							113.0	98.0	104.0					19																	50042431		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50042431A>G	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.674A>G	19.37:g.50042431A>G	ENSP00000270645:p.Tyr225Cys						p.Y225C	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	5	1121	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	225			EF-hand 4.		Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.674A>G	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020636	0.75275	.	.	ENSG00000142552	ENST00000270645	T	0.57273	0.41	5.09	5.09	0.68999	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89206	0.3561	10	0.87932	D	0	-43.4742	14.0025	0.64442	1.0:0.0:0.0:0.0	.	225	Q96D15	RCN3_HUMAN	C	225	ENSP00000270645:Y225C	ENSP00000270645:Y225C	Y	+	2	0	RCN3	54734243	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	8.476000	0.90421	2.136000	0.66102	0.533000	0.62120	TAC		0.587	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650	
SIGLEC11	114132	broad.mit.edu	37	19	50453362	50453362	+	Silent	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50453362G>T	ENST00000447370.2	-	11	2052	c.1962C>A	c.(1960-1962)ctC>ctA	p.L654L	U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Silent_p.L558L|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	654					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGGCTCCCAGAGCCTCAGGC	0.662																																						uc010ybh.1																			0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1960-1962)CTC>CTA		sialic acid binding Ig-like lectin 11 isoform 1							35.0	35.0	35.0					19																	50453362		2202	4300	6502	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50453362G>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1962C>A	19.37:g.50453362G>T						SIGLEC11_uc010ybi.1_Silent_p.L558L	p.L654L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	11	2053	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	654			Cytoplasmic (Potential).			Silent	SNP	ENST00000447370.2	37	c.1962C>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	2.881	-0.231716	0.05983	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.97	-6.57	0.01842	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26883	-1.0090	4	.	.	.	.	3.4794	0.07597	0.291:0.0:0.2978:0.4112	.	.	.	.	Y	548	.	.	S	-	2	0	SIGLEC11	55145174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.864000	0.04254	-1.181000	0.02730	-0.782000	0.03352	TCT		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
KIR3DX1	90011	broad.mit.edu	37	19	55048324	55048324	+	Silent	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:55048324T>C	ENST00000335056.3	+	5	929	c.891T>C	c.(889-891)ggT>ggC	p.G297G	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	297	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GATGCTATGGTTCCTTCAATG	0.577																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	uc010erm.2																			0				ovary(1)	1						c.(190-192)GGT>GGC		Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1, mRNA (cDNA clone IMAGE:4849085).							86.0	84.0	85.0					19																	55048324		1938	4149	6087	SO:0001819	synonymous_variant	90011							g.chr19:55048324T>C	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.891T>C	19.37:g.55048324T>C						KIR3DX1_uc010yfa.1_RNA|KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA	p.G64G						GBM - Glioblastoma multiforme(193;0.099)	1	204	+								B7WNL0|Q8N0S4	Silent	SNP	ENST00000335056.3	37	c.192T>C																																																																																					0.577	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716	
CAPN13	92291	broad.mit.edu	37	2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:30966369C>T	ENST00000295055.8	-	13	1501	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	442					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463																																						uc002rnn.2																			0				large_intestine(1)|ovary(1)	2						c.(1324-1326)CGC>CAC		calpain 13							211.0	202.0	205.0					2																	30966369		1866	4108	5974	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966369C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1325G>A	2.37:g.30966369C>T	ENSP00000295055:p.Arg442His					CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_5'UTR	p.R442H	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			12	1501	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		442					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1325G>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687947	0.29962	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	5.52	-1.17	0.09648	Peptidase C2, calpain, large subunit, domain III (2);	1.383140	0.04630	N	0.403459	T	0.68495	0.3007	N	0.03608	-0.345	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.58183	-0.7681	10	0.44086	T	0.13	.	1.6142	0.02700	0.1257:0.2197:0.1441:0.5105	.	442	Q6MZZ7	CAN13_HUMAN	H	442	ENSP00000295055:R442H;ENSP00000431298:R442H	ENSP00000295055:R442H	R	-	2	0	CAPN13	30819873	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.189000	0.09629	0.067000	0.16545	-0.459000	0.05422	CGC		0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
LHCGR	3973	broad.mit.edu	37	2	48915170	48915170	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:48915170G>A	ENST00000294954.7	-	11	1787	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.A527V|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.A562V|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	589					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTGAGATGGCAAAAAAAGA	0.383																																						uc002rwu.3																			0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1765-1767)GCC>GTC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						100.0	101.0	101.0					2																	48915170		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915170G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1766C>T	2.37:g.48915170G>A	ENSP00000294954:p.Ala589Val					GTF2A1L_uc002rwt.2_Intron	p.A589V	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1836	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	589			Helical; Name=6; (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1766C>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550145	0.86127	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.37584	1.19;1.19;1.19	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70930	-0.4738	9	.	.	.	.	18.7926	0.91980	0.0:0.0:1.0:0.0	.	589	P22888	LSHR_HUMAN	V	527;589;562	ENSP00000344301:A527V;ENSP00000294954:A589V;ENSP00000386033:A562V	.	A	-	2	0	LHCGR	48768674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.694000	0.91930	0.585000	0.79938	GCC		0.383	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
DYSF	8291	broad.mit.edu	37	2	71871111	71871111	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:71871111A>C	ENST00000258104.3	+	41	4704	c.4427A>C	c.(4426-4428)gAt>gCt	p.D1476A	DYSF_ENST00000410041.1_Missense_Mutation_p.D1494A|DYSF_ENST00000429174.2_Missense_Mutation_p.D1497A|DYSF_ENST00000413539.2_Missense_Mutation_p.D1507A|DYSF_ENST00000409366.1_Missense_Mutation_p.D1498A|DYSF_ENST00000394120.2_Missense_Mutation_p.D1477A|DYSF_ENST00000409582.3_Missense_Mutation_p.D1514A|DYSF_ENST00000409651.1_Missense_Mutation_p.D1508A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.D1493A|DYSF_ENST00000409744.1_Missense_Mutation_p.D1484A|DYSF_ENST00000410020.3_Missense_Mutation_p.D1515A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1476					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGTTCATCGATTGGTGGAGC	0.502																																						uc002sie.2																			0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4426-4428)GAT>GCT		dysferlin isoform 8							91.0	78.0	82.0					2																	71871111		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71871111A>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4427A>C	2.37:g.71871111A>C	ENSP00000258104:p.Asp1476Ala					DYSF_uc010feg.2_Missense_Mutation_p.D1507A|DYSF_uc010feh.2_Missense_Mutation_p.D1483A|DYSF_uc002sig.3_Missense_Mutation_p.D1462A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1497A|DYSF_uc010fef.2_Missense_Mutation_p.D1514A|DYSF_uc010fei.2_Missense_Mutation_p.D1493A|DYSF_uc010fek.2_Missense_Mutation_p.D1494A|DYSF_uc010fej.2_Missense_Mutation_p.D1484A|DYSF_uc010fel.2_Missense_Mutation_p.D1463A|DYSF_uc010feo.2_Missense_Mutation_p.D1508A|DYSF_uc010fem.2_Missense_Mutation_p.D1498A|DYSF_uc010fen.2_Missense_Mutation_p.D1515A|DYSF_uc002sif.2_Missense_Mutation_p.D1477A|DYSF_uc010yqy.1_Missense_Mutation_p.D357A|DYSF_uc010yqz.1_Missense_Mutation_p.D237A	p.D1476A	NM_003494	NP_003485	O75923	DYSF_HUMAN			41	4803	+			1476			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4427A>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756666	0.89843	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.92149	-2.61;-2.61;-2.98;-2.96;-2.6;-2.6;-2.6;-2.95;-2.96;-2.97;-2.6	6.06	6.06	0.98353	.	0.046514	0.85682	D	0.000000	D	0.96543	0.8872	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;1.0;0.997;0.999;0.999;0.999	D	0.97121	0.9811	10	0.87932	D	0	-22.2717	14.5614	0.68140	1.0:0.0:0.0:0.0	.	240;1508;1515;1498;1463;1494;1484;1493;1483;1507;1514;1497;1462;1477;1476	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	1507;1493;1514;1497;1476;1508;1477;1484;1498;1515;1494	ENSP00000407046:D1507A;ENSP00000387137:D1493A;ENSP00000386547:D1514A;ENSP00000398305:D1497A;ENSP00000258104:D1476A;ENSP00000386683:D1508A;ENSP00000377678:D1477A;ENSP00000386285:D1484A;ENSP00000386512:D1498A;ENSP00000386881:D1515A;ENSP00000386617:D1494A	ENSP00000258104:D1476A	D	+	2	0	DYSF	71724619	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	8.046000	0.89438	2.324000	0.78689	0.533000	0.62120	GAT		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
SCN9A	6335	broad.mit.edu	37	2	167085353	167085353	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:167085353T>A	ENST00000409435.1	-	21	4053	c.4054A>T	c.(4054-4056)Aac>Tac	p.N1352Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N1353Y|SCN9A_ENST00000409672.1_Missense_Mutation_p.N1341Y|SCN9A_ENST00000375387.4_Missense_Mutation_p.N1353Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1352					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTGGTGTTAATACACTCA	0.403																																						uc010fpl.2																			0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4021-4023)AAC>TAC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						199.0	205.0	203.0					2																	167085353		2105	4269	6374	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085353T>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4054A>T	2.37:g.167085353T>A	ENSP00000386330:p.Asn1352Tyr					uc002udp.2_Intron	p.N1341Y	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			22	4362	-			1352			III.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4021A>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372836	0.82573	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000005	D	0.98994	0.9657	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99758	1.1020	10	0.87932	D	0	.	15.2359	0.73430	0.0:0.0:0.0:1.0	.	1341	E7EUN6	.	Y	1341;1353;1353;1352	ENSP00000386306:N1341Y;ENSP00000364536:N1353Y;ENSP00000304748:N1353Y;ENSP00000386330:N1352Y	ENSP00000304748:N1353Y	N	-	1	0	SCN9A	166793599	1.000000	0.71417	0.915000	0.36163	0.806000	0.45545	6.259000	0.72494	2.013000	0.59113	0.455000	0.32223	AAC		0.403	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
TTN	7273	broad.mit.edu	37	2	179437058	179437058	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:179437058T>C	ENST00000591111.1	-	276	69102	c.68878A>G	c.(68878-68880)Att>Gtt	p.I22960V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15728V|TTN_ENST00000342992.6_Missense_Mutation_p.I22033V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15661V|TTN_ENST00000460472.2_Missense_Mutation_p.I15536V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I24601V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22960	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAGCCCAATGCCATATTCA	0.448																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66097-66099)ATT>GTT		titin isoform N2-A							80.0	75.0	76.0					2																	179437058		1909	4129	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437058T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68878A>G	2.37:g.179437058T>C	ENSP00000465570:p.Ile22960Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I15728V|TTN_uc010zfi.1_Missense_Mutation_p.I15661V|TTN_uc010zfj.1_Missense_Mutation_p.I15536V	p.I22033V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66321	-			22960					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66097A>G		.	.	.	.	.	.	.	.	.	.	T	9.536	1.112208	0.20795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.07	2.34	0.29019	Fibronectin, type III (5);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33206	0.0855	N	0.11892	0.195	0.46222	D	0.998937	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.08889	-1.0700	9	0.87932	D	0	.	9.9639	0.41712	0.0:0.1897:0.0:0.8103	.	15536;15661;15728;22960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22033;15536;15728;15661;15534	ENSP00000343764:I22033V;ENSP00000434586:I15536V;ENSP00000340554:I15728V;ENSP00000352154:I15661V	ENSP00000340554:I15728V	I	-	1	0	TTN	179145304	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	1.703000	0.37846	0.164000	0.19529	0.528000	0.53228	ATT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
RBL1	5933	broad.mit.edu	37	20	35663716	35663716	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr20:35663716T>A	ENST00000373664.3	-	15	2165	c.2099A>T	c.(2098-2100)cAa>cTa	p.Q700L	RBL1_ENST00000344359.3_Missense_Mutation_p.Q700L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	700	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAGAAGAGTTTGACCAGGTAA	0.363																																						uc002xgi.2																			0				lung(5)|skin(3)|ovary(2)	10						c.(2098-2100)CAA>CTA		retinoblastoma-like protein 1 isoform a							141.0	129.0	133.0					20																	35663716		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35663716T>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2099A>T	20.37:g.35663716T>A	ENSP00000362768:p.Gln700Leu					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.Q700L	p.Q700L	NM_002895	NP_002886	P28749	RBL1_HUMAN			15	2178	-		Myeloproliferative disorder(115;0.00878)	700			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2099A>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009431	0.54361	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93811	-3.05;-3.29	5.29	5.29	0.74685	.	0.402345	0.25780	N	0.028355	D	0.91666	0.7366	M	0.61703	1.905	0.53688	D	0.999972	P;P	0.41420	0.622;0.749	B;B	0.38156	0.108;0.266	D	0.91665	0.5345	10	0.44086	T	0.13	-18.7796	15.3954	0.74787	0.0:0.0:0.0:1.0	.	700;700	P28749-2;P28749	.;RBL1_HUMAN	L	700	ENSP00000362768:Q700L;ENSP00000343646:Q700L	ENSP00000343646:Q700L	Q	-	2	0	RBL1	35097130	0.999000	0.42202	0.717000	0.30585	0.712000	0.41017	3.934000	0.56553	2.222000	0.72286	0.383000	0.25322	CAA		0.363	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
DSCAM	1826	broad.mit.edu	37	21	41514514	41514514	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:41514514A>T	ENST00000400454.1	-	18	3854	c.3377T>A	c.(3376-3378)gTc>gAc	p.V1126D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1126	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGTAAATGACTCTGAACCC	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3376-3378)GTC>GAC		Down syndrome cell adhesion molecule isoform							128.0	120.0	123.0					21																	41514514		1878	4096	5974	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514514A>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3377T>A	21.37:g.41514514A>T	ENSP00000383303:p.Val1126Asp					DSCAM_uc002yyr.1_RNA	p.V1126D	NM_001389	NP_001380	O60469	DSCAM_HUMAN			18	3829	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1126			Extracellular (Potential).|Fibronectin type-III 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3377T>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514407	0.85389	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69040	-0.37;-0.37	5.27	5.27	0.74061	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063991	0.64402	D	0.000005	D	0.84224	0.5425	H	0.95504	3.68	0.80722	D	1	D	0.55172	0.97	P	0.55455	0.776	D	0.89379	0.3680	10	0.87932	D	0	.	15.5493	0.76137	1.0:0.0:0.0:0.0	.	1126	O60469	DSCAM_HUMAN	D	1126;878	ENSP00000383303:V1126D;ENSP00000385342:V878D	ENSP00000383303:V1126D	V	-	2	0	DSCAM	40436384	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.171000	0.94802	2.115000	0.64714	0.524000	0.50904	GTC		0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
PRDM15	63977	broad.mit.edu	37	21	43230603	43230603	+	Silent	SNP	G	G	A	rs201676459		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:43230603G>A	ENST00000269844.3	-	28	3767	c.3657C>T	c.(3655-3657)caC>caT	p.H1219H	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Silent_p.H910H|PRDM15_ENST00000447207.2_Silent_p.H853H|PRDM15_ENST00000398548.1_Silent_p.H890H|PRDM15_ENST00000538201.1_Silent_p.H873H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCACCTTGTCGTGTGTGAGCT	0.612																																						uc002yzq.1																			0					0						c.(3655-3657)CAC>CAT		PR domain containing 15 isoform 1							116.0	71.0	86.0					21																	43230603		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230603G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3657C>T	21.37:g.43230603G>A						PRDM15_uc002yzo.2_Silent_p.H890H|PRDM15_uc002yzp.2_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	p.H1219H	NM_022115	NP_071398	P57071	PRD15_HUMAN			28	3768	-			1219			C2H2-type 15.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.3657C>T	CCDS13676.1																																																																																				0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
IL2RB	3560	broad.mit.edu	37	22	37524874	37524874	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr22:37524874C>T	ENST00000216223.5	-	10	1116	c.918G>A	c.(916-918)tcG>tcA	p.S306S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	306					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGGGAAGGGCGAAGAGAGCC	0.622																																						uc003aqv.1																			0					0						c.(916-918)TCG>TCA		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						30.0	30.0	30.0					22																	37524874		2200	4294	6494	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524874C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.918G>A	22.37:g.37524874C>T							p.S306S	NM_000878	NP_000869	P14784	IL2RB_HUMAN			10	1049	-			306			Cytoplasmic (Potential).		B2R765	Silent	SNP	ENST00000216223.5	37	c.918G>A	CCDS13942.1																																																																																				0.622	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1		
CDHR4	389118	broad.mit.edu	37	3	49836331	49836331	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:49836331C>T	ENST00000412678.2	-	4	431	c.423G>A	c.(421-423)gtG>gtA	p.V141V	CDHR4_ENST00000487256.1_Silent_p.V141V|CDHR4_ENST00000343366.4_Missense_Mutation_p.A167T	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	141					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTGTCTCTGGCACCTGAATCA	0.652																																						uc010hkz.2																			0					0						c.(421-423)GTG>GTA		cadherin-like 29 precursor							33.0	38.0	36.0					3																	49836331		2026	4185	6211	SO:0001819	synonymous_variant	389118				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr3:49836331C>T		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.423G>A	3.37:g.49836331C>T						CDHR4_uc003cxp.2_Missense_Mutation_p.A167T|CDHR4_uc011bcw.1_Silent_p.V141V	p.V141V	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN			4	432	-			141			Extracellular (Potential).		Q6UXT0	Silent	SNP	ENST00000412678.2	37	c.423G>A	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133582	0.37630	.	.	ENSG00000187492	ENST00000343366	T	0.49720	0.77	5.11	-0.378	0.12497	.	1.909130	0.02832	N	0.126915	T	0.51381	0.1671	.	.	.	0.32201	N	0.577767	P	0.47302	0.893	P	0.47981	0.563	T	0.52823	-0.8524	9	0.87932	D	0	-9.5868	8.7514	0.34618	0.4123:0.3401:0.2475:0.0	.	167	A6H8M9-2	.	T	167	ENSP00000341302:A167T	ENSP00000341302:A167T	A	-	1	0	CDHR4	49811335	0.105000	0.21958	0.388000	0.26195	0.829000	0.46940	-0.126000	0.10563	-0.084000	0.12595	-0.196000	0.12772	GCC		0.652	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	
STAB1	23166	broad.mit.edu	37	3	52554842	52554842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:52554842G>A	ENST00000321725.6	+	55	5805	c.5729G>A	c.(5728-5730)cGc>cAc	p.R1910H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1910					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCTGCTGGCGCTTCTACCCG	0.662																																						uc003dej.2																			0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(5728-5730)CGC>CAC		stabilin 1 precursor							126.0	149.0	141.0					3																	52554842		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554842G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5729G>A	3.37:g.52554842G>A	ENSP00000312946:p.Arg1910His					STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	p.R1910H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	55	5803	+			1910			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5729G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219686	0.22373	.	.	ENSG00000010327	ENST00000321725	D	0.85484	-1.99	5.49	2.16	0.27623	.	0.860267	0.10448	N	0.673413	T	0.68723	0.3032	N	0.17474	0.49	0.24957	N	0.991752	B	0.06786	0.001	B	0.01281	0.0	T	0.52749	-0.8534	10	0.14656	T	0.56	.	3.6654	0.08254	0.4212:0.1887:0.3901:0.0	.	1910	Q9NY15	STAB1_HUMAN	H	1910	ENSP00000312946:R1910H	ENSP00000312946:R1910H	R	+	2	0	STAB1	52529882	0.029000	0.19370	0.877000	0.34402	0.438000	0.31896	0.545000	0.23268	0.720000	0.32209	-0.137000	0.14449	CGC		0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
PROS1	5627	broad.mit.edu	37	3	93603713	93603713	+	Nonsense_Mutation	SNP	G	G	A	rs5017717		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:93603713G>A	ENST00000394236.3	-	12	1667	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.R320*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	451	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCCAGCTTCGTATACATCCA	0.358																																						uc003drb.3																			0				large_intestine(1)	1	GRCh37	CM951056	PROS1	M	rs5017717	c.(1351-1353)CGA>TGA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						57.0	52.0	54.0					3																	93603713		2203	4300	6503	SO:0001587	stop_gained	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603713G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1351C>T	3.37:g.93603713G>A	ENSP00000377783:p.Arg451*					PROS1_uc010hoo.2_Nonsense_Mutation_p.R320*|PROS1_uc003dqz.3_Nonsense_Mutation_p.R320*	p.R451*	NM_000313	NP_000304	P07225	PROS_HUMAN			12	1692	-			451			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	c.1351C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	39	7.374266	0.98245	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	3.78	1.8	0.24995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6008	0.51001	0.0:0.0:0.6784:0.3216	rs5017717;rs5017717	.	.	.	X	451;320	.	ENSP00000377783:R451X	R	-	1	2	PROS1	95086403	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.357000	0.59436	0.781000	0.33589	-0.314000	0.08810	CGA		0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
ZIC1	7545	broad.mit.edu	37	3	147130368	147130368	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:147130368G>A	ENST00000282928.4	+	2	1775	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	349					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCAGCGACCGCAAGAAGCAC	0.542																																						uc003ewe.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1045-1047)CGC>CAC		zinc finger protein of the cerebellum 1							129.0	104.0	113.0					3																	147130368		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130368G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1046G>A	3.37:g.147130368G>A	ENSP00000282928:p.Arg349His						p.R349H	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1765	+			349			C2H2-type 4.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1046G>A	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.041275|5.041275	0.93685|0.93685	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|T	.|0.07567	.|3.18	3.48|3.48	3.48|3.48	0.39840|0.39840	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.24547|0.24547	0.0595|0.0595	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.79108	.|0.992	T|T	0.03259|0.03259	-1.1055|-1.1055	5|10	.|0.87932	.|D	.|0	.|.	15.1592|15.1592	0.72767|0.72767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|349	.|Q15915	.|ZIC1_HUMAN	T|H	38|349	.|ENSP00000282928:R349H	.|ENSP00000282928:R349H	A|R	+|+	1|2	0|0	ZIC1|ZIC1	148613058|148613058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.515000|9.515000	0.98015|0.98015	1.772000|1.772000	0.52199|0.52199	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.542	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
SULT1B1	27284	broad.mit.edu	37	4	70596339	70596339	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:70596339T>G	ENST00000310613.3	-	7	955	c.658A>C	c.(658-660)Atc>Ctc	p.I220L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTATCCAAGATCTCATCATTC	0.363																																						uc003hen.2																			0					0						c.(658-660)ATC>CTC		sulfotransferase family, cytosolic, 1B, member							158.0	145.0	149.0					4																	70596339		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596339T>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.658A>C	4.37:g.70596339T>G	ENSP00000308770:p.Ile220Leu						p.I220L	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	956	-			220			PAPS (By similarity).		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.658A>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	T	8.204	0.798881	0.16397	.	.	ENSG00000173597	ENST00000310613	D	0.81821	-1.54	4.09	-1.61	0.08399	Sulfotransferase domain (1);	0.896444	0.09311	N	0.819577	T	0.58192	0.2105	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40720	-0.9548	10	0.22706	T	0.39	.	8.9861	0.35994	0.0:0.5482:0.0:0.4518	.	220	O43704	ST1B1_HUMAN	L	220	ENSP00000308770:I220L	ENSP00000308770:I220L	I	-	1	0	SULT1B1	70630928	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	-0.373000	0.07494	-0.202000	0.10268	-0.605000	0.04089	ATC		0.363	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
BMP3	651	broad.mit.edu	37	4	81967402	81967402	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:81967402A>G	ENST00000282701.2	+	2	1147	c.827A>G	c.(826-828)cAc>cGc	p.H276R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	276					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGGATAGCCACATCAGAGCT	0.517																																						uc003hmg.3																			0				ovary(4)|central_nervous_system(1)	5						c.(826-828)CAC>CGC		bone morphogenetic protein 3 preproprotein							78.0	82.0	81.0					4																	81967402		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967402A>G	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.827A>G	4.37:g.81967402A>G	ENSP00000282701:p.His276Arg						p.H276R	NM_001201	NP_001192	P12645	BMP3_HUMAN			2	1147	+			276					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.827A>G	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	2.120	-0.401680	0.04865	.	.	ENSG00000152785	ENST00000282701	T	0.73047	-0.71	5.27	1.13	0.20643	.	0.440982	0.28595	N	0.014789	T	0.55986	0.1955	L	0.50333	1.59	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.34378	-0.9831	10	0.11485	T	0.65	.	7.49	0.27456	0.661:0.2673:0.0717:0.0	.	276	P12645	BMP3_HUMAN	R	276	ENSP00000282701:H276R	ENSP00000282701:H276R	H	+	2	0	BMP3	82186426	0.029000	0.19370	0.990000	0.47175	0.095000	0.18619	1.309000	0.33539	0.391000	0.25143	0.533000	0.62120	CAC		0.517	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
QRFPR	84109	broad.mit.edu	37	4	122254151	122254151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:122254151G>A	ENST00000394427.2	-	4	1033	c.622C>T	c.(622-624)Cct>Tct	p.P208S	QRFPR_ENST00000334383.5_Missense_Mutation_p.P208S	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	208					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGGTGCACAGGGCTGGTCCAC	0.388																																						uc010inj.1																			0					0						c.(622-624)CCT>TCT		G protein-coupled receptor 103							120.0	113.0	115.0					4																	122254151		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122254151G>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.622C>T	4.37:g.122254151G>A	ENSP00000377948:p.Pro208Ser					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	p.P208S	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			4	1001	-			208			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.622C>T	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231095	0.39399	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.36157	1.27;1.27	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.114545	0.64402	D	0.000009	T	0.20007	0.0481	N	0.04387	-0.21	0.37520	D	0.917516	B;B	0.23128	0.044;0.08	B;B	0.23419	0.046;0.041	T	0.19745	-1.0296	10	0.18710	T	0.47	.	16.0372	0.80640	0.0:0.1334:0.8666:0.0	.	208;208	Q96P65;G4XH69	QRFPR_HUMAN;.	S	208	ENSP00000377948:P208S;ENSP00000335610:P208S	ENSP00000335610:P208S	P	-	1	0	QRFPR	122473601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.577000	0.46042	2.871000	0.98454	0.655000	0.94253	CCT		0.388	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
CARD6	84674	broad.mit.edu	37	5	40853779	40853779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:40853779G>A	ENST00000254691.5	+	3	2544	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	782					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CGAGGTAAAAGTTTTGGTATT	0.488																																						uc003jmg.2																			0				ovary(2)|skin(2)|lung(1)	5						c.(2344-2346)AGT>AAT		caspase recruitment domain family, member 6							104.0	120.0	115.0					5																	40853779		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853779G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2345G>A	5.37:g.40853779G>A	ENSP00000254691:p.Ser782Asn						p.S782N	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	2420	+			782					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2345G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.806073	0.16467	.	.	ENSG00000132357	ENST00000254691	T	0.11495	2.77	5.15	-3.59	0.04583	.	0.757148	0.12581	N	0.456419	T	0.03263	0.0095	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43637	-0.9379	10	0.02654	T	1	-0.0062	7.401	0.26965	0.6606:0.0:0.2054:0.134	.	782	Q9BX69	CARD6_HUMAN	N	782	ENSP00000254691:S782N	ENSP00000254691:S782N	S	+	2	0	CARD6	40889536	0.000000	0.05858	0.000000	0.03702	0.357000	0.29423	-1.012000	0.03649	-0.586000	0.05898	0.555000	0.69702	AGT		0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
ADAMTS6	11174	broad.mit.edu	37	5	64766854	64766854	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:64766854C>T	ENST00000536360.1	-	3	1026	c.213G>A	c.(211-213)cgG>cgA	p.R71R				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	71						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGTCCATACTCCGTCTTCTCC	0.383																																						uc003jtp.2																			0					0						c.(211-213)CGG>CGA		ADAM metallopeptidase with thrombospondin type 1							120.0	119.0	119.0					5																	64766854		2203	4300	6503	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766854C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.213G>A	5.37:g.64766854C>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	p.R71R	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	1027	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	71					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.213G>A																																																																																					0.383	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	
MAP1B	4131	broad.mit.edu	37	5	71494069	71494069	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:71494069A>G	ENST00000296755.7	+	5	5185	c.4887A>G	c.(4885-4887)gcA>gcG	p.A1629A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1629					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTAAAACTGCAAAGTCCAGGA	0.438																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4885-4887)GCA>GCG		microtubule-associated protein 1B							106.0	110.0	108.0					5																	71494069		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494069A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4887A>G	5.37:g.71494069A>G						MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	p.A1629A	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5128	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1629					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.4887A>G	CCDS4012.1																																																																																				0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
PCDHGC3	5098	broad.mit.edu	37	5	140857767	140857770	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:140857767_140857770delTTCT	ENST00000308177.3	+	1	2188_2191	c.2084_2087delTTCT	c.(2083-2088)cttcttfs	p.LL695fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	695					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCTACTTCTTTCTCTAATC	0.49											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lkv.1																			0				ovary(1)|skin(1)	2						c.(2083-2088)CTTCTTfs		protocadherin gamma subfamily C, 3 isoform 1																																				SO:0001589	frameshift_variant	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857767_140857770delTTCT	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2084_2087delTTCT	5.37:g.140857771_140857774delTTCT	ENSP00000312070:p.Leu695fs		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC3_uc003lkw.1_Intron	p.L695fs	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2199_2202	+			695_696			Helical; (Potential).		O60622|Q08192|Q9Y5C4	Frame_Shift_Del	DEL	ENST00000308177.3	37	c.2084_2087delTTCT	CCDS4261.1																																																																																				0.490	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
SGCD	6444	broad.mit.edu	37	5	155935645	155935645	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:155935645G>T	ENST00000435422.3	+	3	711	c.224G>T	c.(223-225)gGt>gTt	p.G75V	SGCD_ENST00000517913.1_Missense_Mutation_p.G76V|SGCD_ENST00000447401.1_Missense_Mutation_p.G76V|SGCD_ENST00000337851.4_Missense_Mutation_p.G76V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	75					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGAAAAAGGTCTAAAGCTA	0.418																																						uc003lwd.3																			0					0						c.(223-225)GGT>GTT		delta-sarcoglycan isoform 3							100.0	90.0	93.0					5																	155935645		1843	4099	5942	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935645G>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.224G>T	5.37:g.155935645G>T	ENSP00000403003:p.Gly75Val					SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.2_Missense_Mutation_p.G76V|SGCD_uc003lwc.3_Missense_Mutation_p.G76V	p.G75V	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	700	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	75			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.224G>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751199	0.89753	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.49	5.49	0.81192	.	0.103566	0.64402	D	0.000003	D	0.98074	0.9365	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.98221	1.0478	10	0.52906	T	0.07	-7.1013	17.9142	0.88944	0.0:0.0:1.0:0.0	.	75;76;76	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	V	76;75;76;76	ENSP00000429378:G76V;ENSP00000403003:G75V;ENSP00000338343:G76V;ENSP00000408324:G76V	ENSP00000338343:G76V	G	+	2	0	SGCD	155868223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.732000	0.93576	0.585000	0.79938	GGT		0.418	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3		
FLT4	2324	broad.mit.edu	37	5	180048669	180048669	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:180048669C>T	ENST00000261937.6	-	13	1971	c.1893G>A	c.(1891-1893)gcG>gcA	p.A631A	FLT4_ENST00000393347.3_Silent_p.A631A|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.A631A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	631	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTGGCGCGCCCCAGGTG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1891-1893)GCG>GCA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						26.0	25.0	26.0					5																	180048669		2200	4294	6494	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048669C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1893G>A	5.37:g.180048669C>T						FLT4_uc003mlz.3_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.1_Silent_p.A631A	p.A631A	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1972	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	631			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1893G>A	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
ITPR3	3710	broad.mit.edu	37	6	33653882	33653882	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:33653882C>T	ENST00000374316.5	+	43	6780	c.5720C>T	c.(5719-5721)aCg>aTg	p.T1907M	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1907M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1907					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GTATGCGAGACGCTGCAGTTC	0.592																																						uc011drk.1																			0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(5719-5721)ACG>ATG		inositol 1,4,5-triphosphate receptor, type 3							71.0	61.0	64.0					6																	33653882		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653882C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5720C>T	6.37:g.33653882C>T	ENSP00000363435:p.Thr1907Met					ITPR3_uc003oey.2_Translation_Start_Site	p.T1907M	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			42	5939	+			1907			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5720C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857121	0.91433	.	.	ENSG00000096433	ENST00000374316	D	0.95622	-3.76	4.82	4.82	0.62117	RyR/IP3R Homology associated domain (1);	0.054587	0.64402	D	0.000001	D	0.98093	0.9371	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99410	1.0930	10	0.87932	D	0	-24.5716	17.5201	0.87784	0.0:1.0:0.0:0.0	.	1907	Q14573	ITPR3_HUMAN	M	1907	ENSP00000363435:T1907M	ENSP00000363435:T1907M	T	+	2	0	ITPR3	33761860	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.818000	0.86416	2.227000	0.72691	0.467000	0.42956	ACG		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
GLP1R	2740	broad.mit.edu	37	6	39024212	39024212	+	Nonsense_Mutation	SNP	C	C	T	rs141990898		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:39024212C>T	ENST00000373256.4	+	2	161	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	40					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.R40*(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCAGAAATGGCGAGAATACCG	0.632																																						uc003ooj.3																			1	Substitution - Nonsense(1)		large_intestine(1)	lung(3)|breast(1)|pancreas(1)	5						c.(118-120)CGA>TGA		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)	C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	67.0	57.0	60.0		118	1.2	1.0	6	dbSNP_134	60	0,8600		0,0,4300	yes	stop-gained	GLP1R	NM_002062.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		40/464	39024212	2,13004	2203	4300	6503	SO:0001587	stop_gained	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39024212C>T		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.118C>T	6.37:g.39024212C>T	ENSP00000362353:p.Arg40*					GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.R40*	NM_002062	NP_002053	P43220	GLP1R_HUMAN			2	178	+			40			Extracellular (Potential).		Q2M229|Q99669	Nonsense_Mutation	SNP	ENST00000373256.4	37	c.118C>T	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263182	0.95399	4.54E-4	0.0	ENSG00000112164	ENST00000373256	.	.	.	5.53	1.17	0.20885	.	0.206521	0.33092	N	0.005290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.7886	0.05381	0.4051:0.366:0.1357:0.0933	.	.	.	.	X	40	.	ENSP00000362353:R40X	R	+	1	2	GLP1R	39132190	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	0.891000	0.28309	0.261000	0.21753	-0.150000	0.13652	CGA		0.632	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
DST	667	broad.mit.edu	37	6	56505355	56505355	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:56505355A>G	ENST00000361203.3	-	14	1450	c.1443T>C	c.(1441-1443)tcT>tcC	p.S481S	DST_ENST00000370765.6_Silent_p.S155S|DST_ENST00000370754.5_Silent_p.S659S|DST_ENST00000446842.2_Silent_p.S155S|DST_ENST00000312431.6_Silent_p.S481S|DST_ENST00000370769.4_Silent_p.S481S|DST_ENST00000421834.2_Silent_p.S481S|DST_ENST00000244364.6_Silent_p.S155S|DST_ENST00000518935.1_Silent_p.S155S|DST_ENST00000370788.2_Silent_p.S481S			Q03001	DYST_HUMAN	dystonin	481					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTACACAGAAGAACATTCGT	0.393																																						uc003pdf.2																			0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1975-1977)TCT>TCC		dystonin isoform 2							100.0	98.0	99.0					6																	56505355		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505355A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1443T>C	6.37:g.56505355A>G						DST_uc003pcz.3_Silent_p.S481S|DST_uc011dxj.1_Silent_p.S510S|DST_uc011dxk.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc003pcy.3_Silent_p.S155S|DST_uc003pdb.2_Silent_p.S155S|DST_uc003pdc.3_Silent_p.S155S|DST_uc003pdd.3_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	p.S659S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	2005	-	Lung NSC(77;0.103)		481					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.1977T>C																																																																																					0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
HSF2	3298	broad.mit.edu	37	6	122744040	122744040	+	Silent	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:122744040C>A	ENST00000368455.4	+	9	1200	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	HSF2_ENST00000452194.1_Silent_p.T336T	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	336					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCAGTCTGACCTCAGAAGATC	0.433																																						uc003pyu.2																			0					0						c.(1006-1008)ACC>ACA		heat shock transcription factor 2 isoform a							109.0	88.0	95.0					6																	122744040		2203	4298	6501	SO:0001819	synonymous_variant	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122744040C>A	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1008C>A	6.37:g.122744040C>A						HSF2_uc003pyv.2_Silent_p.T336T	p.T336T	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	9	1195	+			336					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	c.1008C>A	CCDS5124.1																																																																																				0.433	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506	
QKI	9444	broad.mit.edu	37	6	163899861	163899861	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:163899861A>C	ENST00000361752.3	+	3	886	c.335A>C	c.(334-336)cAa>cCa	p.Q112P	QKI_ENST00000361195.2_Missense_Mutation_p.Q112P|QKI_ENST00000275262.7_Missense_Mutation_p.Q112P|QKI_ENST00000392127.2_Missense_Mutation_p.Q112P|QKI_ENST00000453779.2_Missense_Mutation_p.Q112P|QKI_ENST00000424802.3_Missense_Mutation_p.Q112P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	112	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACAGCCAAACAACTTGAAGCA	0.368																																						uc003qui.2																			0				large_intestine(1)|ovary(1)	2						c.(334-336)CAA>CCA		quaking homolog, KH domain RNA binding isoform							88.0	89.0	88.0					6																	163899861		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899861A>C	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.335A>C	6.37:g.163899861A>C	ENSP00000355094:p.Gln112Pro					QKI_uc003que.2_Missense_Mutation_p.Q112P|QKI_uc003quf.2_Missense_Mutation_p.Q112P|QKI_uc003qug.2_Missense_Mutation_p.Q112P|QKI_uc003quh.2_Missense_Mutation_p.Q112P|QKI_uc003quj.2_Missense_Mutation_p.Q112P	p.Q112P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	886	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	112			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.335A>C	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614872	0.87359	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.68	5.68	0.88126	K Homology (1);K Homology, type 1, subgroup (1);	0.103058	0.64402	D	0.000002	T	0.61185	0.2327	H	0.94658	3.565	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.995;0.982;0.995;0.992;0.995;0.992	T	0.74386	-0.3682	10	0.87932	D	0	-1.7776	15.9194	0.79547	1.0:0.0:0.0:0.0	.	112;112;112;112;112;112	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	P	112;112;112;112;112;112;57;57;57	ENSP00000408775:Q112P;ENSP00000275262:Q112P;ENSP00000375973:Q112P;ENSP00000355094:Q112P;ENSP00000354867:Q112P;ENSP00000408382:Q112P;ENSP00000443690:Q57P;ENSP00000440991:Q57P;ENSP00000440599:Q57P	ENSP00000275262:Q112P	Q	+	2	0	QKI	163819851	1.000000	0.71417	0.981000	0.43875	0.942000	0.58702	8.938000	0.92943	2.160000	0.67779	0.482000	0.46254	CAA		0.368	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
HNRNPA2B1	3181	broad.mit.edu	37	7	26236176	26236178	+	Splice_Site	DEL	CCT	CCT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:26236176_26236178delCCT	ENST00000354667.4	-	6	780_782	c.612_614delAGG	c.(610-615)ggaggc>ggc	p.204_205GG>G	HNRNPA2B1_ENST00000356674.7_Splice_Site_p.192_193GG>G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	204	Gly-rich.			G -> S (in Ref. 4; BAF82118). {ECO:0000305}.	gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATTAAAATTACCTCCTCTTCCAC	0.379			T	ETV1	prostate																																	uc003sxr.3				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e6+1		heterogeneous nuclear ribonucleoprotein A2/B1																																				SO:0001630	splice_region_variant	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236176_26236178delCCT	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.613+1AGG>-	7.37:g.26236179_26236181delCCT						HNRNPA2B1_uc003sxs.3_Splice_Site_p.G193_splice	p.G205_splice	NM_031243	NP_112533	P22626	ROA2_HUMAN			6	829	-								A8K064|P22627|Q9UC98|Q9UDJ2	Splice_Site	DEL	ENST00000354667.4	37	c.613_splice	CCDS43557.1																																																																																				0.379	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137	In_Frame_Del
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:55223543C>T	ENST00000275493.2	+	8	1087	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_ENST00000344576.2_Missense_Mutation_p.H304Y|EGFR_ENST00000454757.2_Missense_Mutation_p.H251Y|EGFR_ENST00000455089.1_Missense_Mutation_p.H259Y|EGFR_ENST00000342916.3_Missense_Mutation_p.H304Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H304Y|EGFR_ENST00000420316.2_Missense_Mutation_p.H304Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGACAGATCACGGCTCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(910-912)CAC>TAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	61.0	62.0					7																	55223543		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223543C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.910C>T	7.37:g.55223543C>T	ENSP00000275493:p.His304Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.H304Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		304			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.910C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802534	0.16397	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.82923	2.615	0.80722	D	1	B;B;B;B;B	0.33288	0.003;0.001;0.406;0.065;0.047	B;B;B;B;B	0.30316	0.005;0.01;0.114;0.024;0.056	T	0.64279	-0.6445	10	0.02654	T	1	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	259;304;304;304;304	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	259;304;174;304;304;304;304;251;98	ENSP00000415559:H259Y;ENSP00000342376:H304Y;ENSP00000345973:H304Y;ENSP00000413843:H304Y;ENSP00000275493:H304Y;ENSP00000410031:H304Y;ENSP00000395243:H251Y	ENSP00000275493:H304Y	H	+	1	0	EGFR	55191037	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.344000	0.52174	2.655000	0.90218	0.655000	0.94253	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TPST1	8460	broad.mit.edu	37	7	65751542	65751542	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:65751542G>A	ENST00000304842.5	+	3	1315	c.890G>A	c.(889-891)gGa>gAa	p.G297E	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	297					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCAATGTAGGAGCTCTATCA	0.373																																						uc003tuw.2																			0					0						c.(889-891)GGA>GAA		tyrosylprotein sulfotransferase 1							130.0	120.0	123.0					7																	65751542		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751542G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.890G>A	7.37:g.65751542G>A	ENSP00000302413:p.Gly297Glu					TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.G297E|TPST1_uc010laa.2_Missense_Mutation_p.G297E	p.G297E	NM_003596	NP_003587	O60507	TPST1_HUMAN			3	1242	+			297			Lumenal (Potential).		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.890G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323162	0.01320	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.51817	0.69	5.56	-1.8	0.07907	.	0.248301	0.39210	N	0.001429	T	0.09512	0.0234	N	0.00246	-1.78	0.28885	N	0.894173	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40289	-0.9571	10	0.02654	T	1	-2.7784	8.1419	0.31089	0.0972:0.4923:0.3198:0.0907	.	297;297	F5H7U7;O60507	.;TPST1_HUMAN	E	297	ENSP00000302413:G297E	ENSP00000302413:G297E	G	+	2	0	TPST1	65388977	1.000000	0.71417	0.865000	0.33974	0.561000	0.35649	2.841000	0.48223	-0.500000	0.06614	-1.946000	0.00489	GGA		0.373	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596	
SRPK2	6733	broad.mit.edu	37	7	104782641	104782641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:104782641G>A	ENST00000393651.3	-	11	1444	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	SRPK2_ENST00000489828.1_Nonsense_Mutation_p.R442*|SRPK2_ENST00000357311.3_Nonsense_Mutation_p.R442*	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTATGTCGTCCATTTGGC	0.448																																						uc003vct.2																			0				central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1324-1326)CGA>TGA		serine/arginine-rich protein-specific kinase 2							159.0	151.0	154.0					7																	104782641		2203	4300	6503	SO:0001587	stop_gained	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782641G>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1357C>T	7.37:g.104782641G>A	ENSP00000377262:p.Arg453*					SRPK2_uc003vcu.2_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.2_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	p.R442*	NM_182691	NP_872633	P78362	SRPK2_HUMAN			10	1511	-			442			Protein kinase.			Nonsense_Mutation	SNP	ENST00000393651.3	37	c.1324C>T	CCDS34724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.708030|5.708030	0.96821|0.96821	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828|ENST00000477925	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.794741|.	0.11646|.	N|.	0.543316|.	.|T	.|0.64929	.|0.2643	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69942	.|-0.5008	.|3	0.07644|.	T|.	0.81|.	-2.8253|-2.8253	13.6431|13.6431	0.62265|0.62265	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	.|.	.|.	.|.	X|M	453;442;442|48	.|.	ENSP00000349863:R442X|.	R|T	-|-	1|2	2|0	SRPK2|SRPK2	104569877|104569877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.507000|6.507000	0.73717|0.73717	2.647000|2.647000	0.89833|0.89833	0.555000|0.555000	0.69702|0.69702	CGA|ACG		0.448	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
GPR37	2861	broad.mit.edu	37	7	124404927	124404927	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:124404927C>G	ENST00000303921.2	-	1	754	c.104G>C	c.(103-105)aGa>aCa	p.R35T		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	35					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTTCGTTTCTGGACGCAGG	0.647																																						uc003vli.2																			0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(103-105)AGA>ACA		G protein-coupled receptor 37 precursor							22.0	23.0	23.0					7																	124404927		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404927C>G		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.104G>C	7.37:g.124404927C>G	ENSP00000306449:p.Arg35Thr						p.R35T	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	755	-			35			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.104G>C	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885625	0.17540	.	.	ENSG00000170775	ENST00000303921	T	0.08984	3.03	5.1	4.22	0.49857	.	0.422095	0.27886	N	0.017444	T	0.06005	0.0156	N	0.19112	0.55	0.26003	N	0.982098	B	0.23058	0.079	B	0.21546	0.035	T	0.26985	-1.0087	10	0.48119	T	0.1	-7.4175	9.248	0.37539	0.0:0.903:0.0:0.097	.	35	O15354	GPR37_HUMAN	T	35	ENSP00000306449:R35T	ENSP00000306449:R35T	R	-	2	0	GPR37	124192163	0.000000	0.05858	0.200000	0.23457	0.017000	0.09413	0.445000	0.21677	1.376000	0.46267	0.655000	0.94253	AGA		0.647	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
FGL1	2267	broad.mit.edu	37	8	17726189	17726189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:17726189G>A	ENST00000398056.2	-	9	1462	c.647C>T	c.(646-648)gCg>gTg	p.A216V	FGL1_ENST00000398054.1_Missense_Mutation_p.A216V|FGL1_ENST00000522444.1_Missense_Mutation_p.A216V|FGL1_ENST00000518650.1_Missense_Mutation_p.A216V|FGL1_ENST00000381841.2_Missense_Mutation_p.A216V|FGL1_ENST00000427924.1_Missense_Mutation_p.A216V|FGL1_ENST00000381840.2_Missense_Mutation_p.A216V			Q08830	FGL1_HUMAN	fibrinogen-like 1	216	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		AAAATTCCCCGCAAGGGAATC	0.453																																						uc003wxx.2																			0					0						c.(646-648)GCG>GTG		fibrinogen-like 1 precursor							73.0	74.0	74.0					8																	17726189		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17726189G>A	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.647C>T	8.37:g.17726189G>A	ENSP00000381133:p.Ala216Val					FGL1_uc003wxy.2_Missense_Mutation_p.A216V|FGL1_uc003wxz.2_Missense_Mutation_p.A215V|FGL1_uc003wya.2_Missense_Mutation_p.A216V|FGL1_uc003wyb.2_Missense_Mutation_p.A216V|FGL1_uc003wyc.2_Missense_Mutation_p.A216V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.A266V|FGL1_uc003wyf.2_Missense_Mutation_p.A186V	p.A216V	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	8	971	-			216			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.647C>T	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578148	0.28180	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	4.57	1.35	0.21983	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.997378	0.08124	N	0.994188	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B;B;P	0.36944	0.115;0.095;0.574	B;B;B	0.31869	0.051;0.015;0.137	T	0.24048	-1.0171	10	0.15066	T	0.55	.	10.7808	0.46377	0.0:0.265:0.5982:0.1368	.	186;216;216	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	V	216;216;186;216;216;216;216;216;216	ENSP00000381133:A216V;ENSP00000429757:A216V;ENSP00000371263:A216V;ENSP00000401952:A216V;ENSP00000381131:A216V;ENSP00000371262:A216V;ENSP00000428430:A216V	ENSP00000221204:A216V	A	-	2	0	FGL1	17770469	0.874000	0.30092	0.001000	0.08648	0.626000	0.37791	4.252000	0.58785	0.562000	0.29204	0.585000	0.79938	GCG		0.453	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
DOCK5	80005	broad.mit.edu	37	8	25222153	25222153	+	Missense_Mutation	SNP	G	G	A	rs148483229	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:25222153G>A	ENST00000276440.7	+	30	3100	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1019					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTTTTCTCCGTGCTATAAAT	0.413													G|||	4	0.000798722	0.0023	0.0	5008	,	,		18372	0.0		0.001	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(3055-3057)CGT>CAT		dedicator of cytokinesis 5		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	119.0	126.0		3056	4.7	1.0	8	dbSNP_134	126	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DOCK5	NM_024940.6	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	1019/1871	25222153	3,13003	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25222153G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3056G>A	8.37:g.25222153G>A	ENSP00000276440:p.Arg1019His					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.2_Missense_Mutation_p.R589H|DOCK5_uc003xej.2_RNA	p.R1019H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	30	3193	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1019					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3056G>A	CCDS6047.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	23.6	4.433675	0.83776	2.27E-4	2.33E-4	ENSG00000147459	ENST00000276440	T	0.25579	1.79	5.62	4.74	0.60224	.	0.107760	0.64402	D	0.000006	T	0.31638	0.0803	M	0.76574	2.34	0.49130	D	0.999757	P;P;P	0.50156	0.872;0.932;0.751	P;P;P	0.49999	0.507;0.628;0.507	T	0.19943	-1.0290	10	0.56958	D	0.05	.	13.9421	0.64062	0.0726:0.0:0.9274:0.0	.	1009;794;1019	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	H	1019	ENSP00000276440:R1019H	ENSP00000276440:R1019H	R	+	2	0	DOCK5	25278070	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	6.715000	0.74697	2.651000	0.90000	0.650000	0.86243	CGT		0.413	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
PCMTD1	115294	broad.mit.edu	37	8	52733157	52733157	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:52733157C>A	ENST00000360540.5	-	7	1234	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R276S|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R200S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	276						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408																																						uc003xqx.3																			0					0						c.(826-828)AGG>AGT		protein-L-isoaspartate (D-aspartate)							145.0	150.0	148.0					8																	52733157		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733157C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.828G>T	8.37:g.52733157C>A	ENSP00000353739:p.Arg276Ser					PCMTD1_uc011ldm.1_Missense_Mutation_p.R146S|PCMTD1_uc003xqw.3_Missense_Mutation_p.R276S|PCMTD1_uc011ldn.1_Missense_Mutation_p.R88S|PCMTD1_uc010lya.2_Missense_Mutation_p.R200S	p.R276S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1169	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	276					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.828G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448137	0.63178	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46063	0.88;0.88;0.88	5.97	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.60455	1.87	0.80722	D	1	P;B;B	0.46395	0.877;0.234;0.212	P;B;B	0.45829	0.494;0.09;0.055	T	0.35919	-0.9769	10	0.48119	T	0.1	-27.68	1.8472	0.03161	0.2394:0.439:0.1211:0.2005	.	146;200;276	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	276;200;276	ENSP00000353739:R276S;ENSP00000444026:R200S;ENSP00000428099:R276S	ENSP00000353739:R276S	R	-	3	2	PCMTD1	52895710	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.806000	0.27126	1.536000	0.49237	0.655000	0.94253	AGG		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
STK3	6788	broad.mit.edu	37	8	99718703	99718703	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:99718703G>C	ENST00000419617.2	-	6	816	c.676C>G	c.(676-678)Cca>Gca	p.P226A	STK3_ENST00000523601.1_Missense_Mutation_p.P254A	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCCTCATTGGATGTATATCA	0.348																																						uc003yip.2																			0				lung(3)|ovary(1)	4						c.(676-678)CCA>GCA		serine/threonine kinase 3							73.0	74.0	73.0					8																	99718703		2073	4245	6318	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99718703G>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.676C>G	8.37:g.99718703G>C	ENSP00000390500:p.Pro226Ala					STK3_uc003yio.2_Missense_Mutation_p.P254A|STK3_uc010mbm.1_Intron	p.P226A	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	6	817	-	Breast(36;2.4e-06)	Breast(495;0.106)	226			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.676C>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328678	0.81690	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.63913	-0.07;-0.07	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.42744	1.35	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.59761	0.863;0.863	T	0.74435	-0.3666	10	0.72032	D	0.01	.	18.5716	0.91137	0.0:0.0:1.0:0.0	.	226;254	Q13188;B3KYA7	STK3_HUMAN;.	A	226;254	ENSP00000390500:P226A;ENSP00000429744:P254A	ENSP00000390500:P226A	P	-	1	0	STK3	99787879	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.869000	0.99810	2.378000	0.81104	0.655000	0.94253	CCA		0.348	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	
ATAD2	29028	broad.mit.edu	37	8	124358469	124358469	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:124358469T>C	ENST00000287394.5	-	18	2496	c.2389A>G	c.(2389-2391)Ata>Gta	p.I797V	ATAD2_ENST00000521903.1_Missense_Mutation_p.I115V|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	797					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCCTACTATCAATATTCTT	0.353																																						uc003yqh.3																			0				ovary(2)	2						c.(2389-2391)ATA>GTA		ATPase family, AAA domain containing 2							81.0	79.0	79.0					8																	124358469		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124358469T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2389A>G	8.37:g.124358469T>C	ENSP00000287394:p.Ile797Val					ATAD2_uc011lii.1_Missense_Mutation_p.I588V|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.I797V	p.I797V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		18	2497	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		797					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2389A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266294	0.40095	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.84070	-1.8;-1.8	6.02	6.02	0.97574	.	0.057310	0.64402	D	0.000002	T	0.74943	0.3783	L	0.36672	1.1	0.33121	D	0.541823	B	0.29590	0.25	B	0.29267	0.1	T	0.78401	-0.2218	10	0.35671	T	0.21	-23.9418	10.6833	0.45828	0.2353:0.0:0.0:0.7647	.	797	Q6PL18	ATAD2_HUMAN	V	797;115	ENSP00000287394:I797V;ENSP00000429213:I115V	ENSP00000287394:I797V	I	-	1	0	ATAD2	124427650	0.974000	0.33945	0.998000	0.56505	0.948000	0.59901	1.465000	0.35299	2.299000	0.77371	0.528000	0.53228	ATA		0.353	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
SPATC1	375686	broad.mit.edu	37	8	145095497	145095497	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:145095497G>A	ENST00000377470.3	+	3	897	c.795G>A	c.(793-795)tcG>tcA	p.S265S	SPATC1_ENST00000447830.2_Silent_p.S265S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	265						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCCAGTCGACCCAGGACC	0.617																																						uc011lkw.1																			0				ovary(1)|central_nervous_system(1)	2						c.(793-795)TCG>TCA		spermatogenesis and centriole associated 1							152.0	96.0	115.0					8																	145095497		2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145095497G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.795G>A	8.37:g.145095497G>A						SPATC1_uc011lkx.1_Silent_p.S265S	p.S265S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	897	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		265					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.795G>A	CCDS6413.2																																																																																				0.617	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572	
KDM6A	7403	broad.mit.edu	37	X	44922695	44922695	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:44922695G>C	ENST00000377967.4	+	16	1597	c.1556G>C	c.(1555-1557)cGa>cCa	p.R519P	KDM6A_ENST00000382899.4_Missense_Mutation_p.R526P|KDM6A_ENST00000543216.1_Missense_Mutation_p.R440P|KDM6A_ENST00000536777.1_Missense_Mutation_p.R474P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCACAGGTACGATCTACTGGA	0.463			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|No detectable mRNA/protein(2)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1555-1557)CGA>CCA		ubiquitously transcribed tetratricopeptide							79.0	69.0	72.0					X																	44922695		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922695G>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1556G>C	X.37:g.44922695G>C	ENSP00000367203:p.Arg519Pro					KDM6A_uc010nhk.2_Missense_Mutation_p.R485P|KDM6A_uc011mkz.1_Missense_Mutation_p.R571P|KDM6A_uc011mla.1_Missense_Mutation_p.R474P|KDM6A_uc011mlb.1_Missense_Mutation_p.R526P|KDM6A_uc011mlc.1_Missense_Mutation_p.R223P|KDM6A_uc011mld.1_Missense_Mutation_p.R158P	p.R519P	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	1931	+			519					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.1556G>C	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.423400|4.423400	0.83559|0.83559	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000451692|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688	.|T;T;T;T	.|0.19806	.|2.15;2.13;2.12;2.19	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.365679	.|0.29053	.|N	.|0.013298	T|T	0.44477|0.44477	0.1295|0.1295	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;P;B;D;P	.|0.76494	.|0.998;0.999;0.676;0.367;0.998;0.872	.|D;D;P;B;D;P	.|0.80764	.|0.989;0.994;0.451;0.264;0.992;0.644	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.34782	.|T	.|0.22	-6.2392|-6.2392	17.7676|17.7676	0.88483|0.88483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;526;474;571;485;519	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	H|P	149|216;519;474;526;440;112	.|ENSP00000367203:R519P;ENSP00000437405:R474P;ENSP00000372355:R526P;ENSP00000443078:R440P	.|ENSP00000334340:R216P	D|R	+|+	1|2	0|0	KDM6A|KDM6A	44807639|44807639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	9.160000|9.160000	0.94734|0.94734	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	GAT|CGA		0.463	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:125299171C>T	ENST00000360028.2	-	1	763	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R246H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647																																						uc004euk.1																			0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(736-738)CGT>CAT		DDB1 and CUL4 associated factor 12-like 2							33.0	36.0	35.0					X																	125299171		2203	4298	6501	SO:0001583	missense	340578							g.chrX:125299171C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.737G>A	X.37:g.125299171C>T	ENSP00000353128:p.Arg246His						p.R246H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	764	-			246					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.737G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382091	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18016	2.24;2.24	3.87	-1.21	0.09524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.186280	0.06407	N	0.719915	T	0.12135	0.0295	L	0.43152	1.355	0.09310	N	1	D	0.53151	0.958	B	0.42188	0.379	T	0.23226	-1.0194	10	0.13470	T	0.59	.	3.4268	0.07413	0.189:0.3404:0.0:0.4706	.	246	Q5VW00	DC122_HUMAN	H	246	ENSP00000441489:R246H;ENSP00000353128:R246H	ENSP00000353128:R246H	R	-	2	0	DCAF12L2	125126852	0.264000	0.24093	0.001000	0.08648	0.106000	0.19336	0.473000	0.22132	-0.455000	0.07054	0.544000	0.68410	CGT		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142718314C>T	ENST00000381779.4	-	2	836	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral component of membrane (GO:0016021)		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428																																						uc004fbx.2																			1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(610-612)CGT>CAT		slit and trk like 4 protein precursor							86.0	82.0	84.0					X																	142718314		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718314C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.611G>A	X.37:g.142718314C>T	ENSP00000371198:p.Arg204His					SLITRK4_uc004fby.2_Missense_Mutation_p.R204H	p.R204H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	987	-	Acute lymphoblastic leukemia(192;6.56e-05)		204			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.611G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908800	0.52439	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52526	0.66;0.66;0.66	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	N	0.17764	0.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.59139	-0.7510	10	0.59425	D	0.04	-6.3467	17.313	0.87214	0.0:1.0:0.0:0.0	.	204	Q8IW52	SLIK4_HUMAN	H	204	ENSP00000371198:R204H;ENSP00000349400:R204H;ENSP00000336627:R204H	ENSP00000336627:R204H	R	-	2	0	SLITRK4	142545980	1.000000	0.71417	0.840000	0.33206	0.462000	0.32619	7.818000	0.86416	2.412000	0.81896	0.597000	0.82753	CGT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142795437C>T	ENST00000370498.1	-	2	994	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453																																						uc004fbz.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(241-243)GTC>ATC		SPANX-N2 protein							305.0	279.0	288.0					X																	142795437		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795437C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.241G>A	X.37:g.142795437C>T	ENSP00000359529:p.Val81Ile						p.V81I	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	995	-	Acute lymphoblastic leukemia(192;6.56e-05)		81					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.241G>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.835585	0.00579	.	.	ENSG00000203924	ENST00000370498	T	0.06687	3.27	0.225	0.225	0.15325	.	.	.	.	.	T	0.02193	0.0068	N	0.02225	-0.63	0.09310	N	1	P	0.39665	0.682	B	0.29267	0.1	T	0.43442	-0.9391	8	0.19147	T	0.46	.	.	.	.	.	81	Q5MJ10	SPXN2_HUMAN	I	81	ENSP00000359529:V81I	ENSP00000359529:V81I	V	-	1	0	SPANXN2	142623103	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.380000	0.07427	0.280000	0.22209	0.284000	0.19432	GTC		0.453	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615	
