#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
CLCN6	1185	broad.mit.edu	37	1	11906071	11906071	+	IGR	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:11906071A>G	ENST00000346436.6	+	0	5583				NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376480.3_Splice_Site_p.Y151H|NPPA_ENST00000376476.1_Splice_Site_p.Y101H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6						cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.Y151H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TATCTTCAGTACTGCAAAGAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											153.0	138.0	143.0					1																	11906071		2203	4300	6503	11828658	SO:0001628	intergenic_variant	4878			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299		1.37:g.11906071A>G			11828658	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	SNP	14	Broad	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106126	0.56291	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.51325	0.71	5.47	5.47	0.80525	.	0.266518	0.29002	N	0.013447	T	0.34803	0.0910	N	0.08118	0	0.35234	D	0.777219	D	0.56521	0.976	P	0.47744	0.556	T	0.54262	-0.8320	10	0.87932	D	0	-14.1255	11.9816	0.53123	1.0:0.0:0.0:0.0	.	151	P01160	ANF_HUMAN	H	151;101	ENSP00000365663:Y151H	ENSP00000365659:Y101H	Y	-	1	0	NPPA	11828658	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	4.239000	0.58694	2.078000	0.62432	0.528000	0.53228	TAC		0.517	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		Missense_Mutation
PADI3	51702	broad.mit.edu	37	1	17594343	17594343	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:17594343A>G	ENST00000375460.3	+	6	578	c.538A>G	c.(538-540)Atg>Gtg	p.M180V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	180					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.M180V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTGGAAGACATGTCTGTCAT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											94.0	80.0	85.0					1																	17594343		2203	4300	6503	17466930	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.538A>G	1.37:g.17594343A>G	ENSP00000364609:p.Met180Val		17466930	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723202	0.68959	.	.	ENSG00000142619	ENST00000375460	T	0.21191	2.02	5.42	5.42	0.78866	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.87097	2.86	0.51012	D	0.999909	P	0.48162	0.906	B	0.43950	0.437	T	0.46952	-0.9154	10	0.72032	D	0.01	-48.9008	14.277	0.66187	1.0:0.0:0.0:0.0	.	180	Q9ULW8	PADI3_HUMAN	V	180	ENSP00000364609:M180V	ENSP00000364609:M180V	M	+	1	0	PADI3	17466930	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	8.872000	0.92352	2.056000	0.61249	0.459000	0.35465	ATG		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			Missense_Mutation
HIST2H2AC	8338	broad.mit.edu	37	1	149858597	149858597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:149858597C>T	ENST00000331380.2	+	1	73	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q25*(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGCTGGCCTCCAGTTCCCGGT	0.647																																																1	Substitution - Nonsense(1)	ovary(1)	1											69.0	75.0	73.0					1																	149858597		2203	4299	6502	148125221	SO:0001587	stop_gained	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.73C>T	1.37:g.149858597C>T	ENSP00000332194:p.Gln25*		148125221	Q6DRA7|Q8IUE5	Nonsense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	31	5.077244	0.94000	.	.	ENSG00000184260	ENST00000331380	.	.	.	5.81	5.81	0.92471	.	0.000000	0.42053	D	0.000761	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6409	0.91396	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000332194:Q25X	Q	+	1	0	HIST2H2AC	148125221	1.000000	0.71417	0.959000	0.39883	0.936000	0.57629	7.596000	0.82721	2.745000	0.94114	0.655000	0.94253	CAG		0.647	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		Nonsense_Mutation
PGLYRP4	57115	broad.mit.edu	37	1	153312924	153312924	+	Missense_Mutation	SNP	G	G	A	rs148300800	byFrequency	TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:153312924G>A	ENST00000359650.5	-	7	821	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249C	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.R253C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAGCAGGCGGCACTCATCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	1						G	CYS/ARG	0,4406		0,0,2203	99.0	95.0	97.0		757	3.6	0.5	1	dbSNP_134	97	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PGLYRP4	NM_020393.2	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	253/374	153312924	4,13002	2203	4300	6503	151579548	SO:0001583	missense	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.757C>T	1.37:g.153312924G>A	ENSP00000352672:p.Arg253Cys		151579548	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402783	0.42613	0.0	4.65E-4	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17370	2.28;2.28	3.64	3.64	0.41730	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.21062	0.0507	L	0.45352	1.415	0.32927	D	0.516628	D;D	0.89917	1.0;1.0	D;D	0.75484	0.976;0.986	T	0.02098	-1.1214	10	0.56958	D	0.05	-24.8992	10.9823	0.47501	0.0:0.0:1.0:0.0	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	C	249;253	ENSP00000357728:R249C;ENSP00000352672:R253C	ENSP00000352672:R253C	R	-	1	0	PGLYRP4	151579548	0.404000	0.25328	0.492000	0.27490	0.456000	0.32438	0.562000	0.23531	1.988000	0.58038	0.655000	0.94253	CGC		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		Missense_Mutation
RASAL2	9462	broad.mit.edu	37	1	178269208	178269208	+	Nonsense_Mutation	SNP	G	G	T	rs144830827		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:178269208G>T	ENST00000367649.3	+	3	764	c.412G>T	c.(412-414)Gag>Tag	p.E138*	RASAL2_ENST00000448150.3_Nonsense_Mutation_p.E120*			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.E120*(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTCCCTTCCGAGGGTCAGTT	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	1											70.0	73.0	72.0					1																	178269208		2203	4300	6503	176535831	SO:0001587	stop_gained	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.412G>T	1.37:g.178269208G>T	ENSP00000356621:p.Glu138*	1945	176535831	F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP	ENST00000367649.3	37	CCDS1321.2	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	37	6.263076	0.97421	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	.	.	.	X	120;138	.	ENSP00000356621:E138X	E	+	1	0	RASAL2	176535831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.994000	0.76251	2.793000	0.96121	0.655000	0.94253	GAG		0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		Nonsense_Mutation
KCNT2	343450	broad.mit.edu	37	1	196250056	196250056	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:196250056A>C	ENST00000294725.9	-	25	3759	c.2844T>G	c.(2842-2844)tgT>tgG	p.C948W	KCNT2_ENST00000609185.1_Missense_Mutation_p.C874W|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.C924W|KCNT2_ENST00000367431.4_Missense_Mutation_p.C874W|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	948					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.C948W(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTAGAAGAACACAACTTCT	0.338																																																1	Substitution - Missense(1)	ovary(1)	1											97.0	99.0	98.0					1																	196250056		2203	4300	6503	194516679	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2844T>G	1.37:g.196250056A>C	ENSP00000294725:p.Cys948Trp		194516679	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	SNP	2	Broad	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128612	0.56721	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78595	-1.19;-1.19;-1.19	5.52	1.95	0.26073	.	0.000000	0.64402	D	0.000003	D	0.86920	0.6049	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.98;0.994;0.994;0.994;0.98	D	0.85101	0.0957	10	0.87932	D	0	-18.9829	8.2431	0.31671	0.6922:0.0:0.3078:0.0	.	948;906;924;874;948	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	W	924;874;948	ENSP00000356403:C924W;ENSP00000356401:C874W;ENSP00000294725:C948W	ENSP00000294725:C948W	C	-	3	2	KCNT2	194516679	0.982000	0.34865	0.999000	0.59377	0.997000	0.91878	0.387000	0.20718	0.141000	0.18875	0.455000	0.32223	TGT		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		Missense_Mutation
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:207640107G>T	ENST00000367058.3	+	2	484	c.295G>T	c.(295-297)Gga>Tga	p.G99*	CR2_ENST00000458541.2_Nonsense_Mutation_p.G99*|CR2_ENST00000367057.3_Nonsense_Mutation_p.G99*|CR2_ENST00000367059.3_Nonsense_Mutation_p.G99*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	1											96.0	94.0	95.0					1																	207640107		2203	4300	6503	205706730	SO:0001587	stop_gained	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.295G>T	1.37:g.207640107G>T	ENSP00000356025:p.Gly99*		205706730	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129907	0.37630	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.0	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.4734	0.27361	0.117:0.0:0.883:0.0	.	.	.	.	X	99	.	ENSP00000356024:G99X	G	+	1	0	CR2	205706730	0.570000	0.26651	0.867000	0.34043	0.013000	0.08279	2.467000	0.45093	2.607000	0.88179	0.655000	0.94253	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		Nonsense_Mutation
RYR2	6262	broad.mit.edu	37	1	237660038	237660038	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:237660038T>C	ENST00000366574.2	+	20	2506	c.2189T>C	c.(2188-2190)cTt>cCt	p.L730P	RYR2_ENST00000360064.6_Missense_Mutation_p.L728P|RYR2_ENST00000542537.1_Missense_Mutation_p.L714P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	730	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L728P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGATGGCCTTCATCTCTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											157.0	162.0	160.0					1																	237660038		1965	4162	6127	235726661	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2189T>C	1.37:g.237660038T>C	ENSP00000355533:p.Leu730Pro		235726661	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311288	0.81358	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000028	D	0.83211	0.5205	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85242	0.1039	10	0.59425	D	0.04	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	730	Q92736	RYR2_HUMAN	P	730;728;714	ENSP00000355533:L730P;ENSP00000353174:L728P;ENSP00000443798:L714P	ENSP00000353174:L728P	L	+	2	0	RYR2	235726661	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.031000	0.88826	2.233000	0.73108	0.454000	0.30748	CTT		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		Missense_Mutation
VN1R5	317705	broad.mit.edu	37	1	247420019	247420019	+	IGR	SNP	G	G	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr1:247420019G>C								RP11-488L18.8 (14894 upstream) : Y_RNA (38117 downstream)																							ACAGGAGACTGTTTTTCACAC	0.463																																																0			1											250.0	234.0	239.0					1																	247420019		1905	4135	6040	245486642	SO:0001628	intergenic_variant	317705																															1.37:g.247420019G>C			245486642		Missense_Mutation	SNP		37		SNP	48	Broad																																																																																			0	0.463									Missense_Mutation
LIPK	643414	broad.mit.edu	37	10	90512322	90512322	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr10:90512322A>G	ENST00000404190.1	+	9	1009	c.1009A>G	c.(1009-1011)Ata>Gta	p.I337V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	337					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.I337V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCAACAGCAATATGGAATGG	0.333																																																1	Substitution - Missense(1)	ovary(1)	10											42.0	40.0	40.0					10																	90512322		1874	4118	5992	90502302	SO:0001583	missense	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.1009A>G	10.37:g.90512322A>G	ENSP00000383900:p.Ile337Val		90502302	A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	CCDS44455.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	0.385	-0.926761	0.02377	.	.	ENSG00000204021	ENST00000404190	T	0.70986	-0.53	5.65	-3.16	0.05217	Alpha/beta hydrolase fold-1 (1);	0.879237	0.10015	N	0.726719	T	0.38878	0.1057	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.29579	-1.0007	10	0.14252	T	0.57	-0.1212	6.5376	0.22363	0.5181:0.0:0.3641:0.1178	.	337	Q5VXJ0	LIPK_HUMAN	V	337	ENSP00000383900:I337V	ENSP00000383900:I337V	I	+	1	0	LIPK	90502302	0.003000	0.15002	0.141000	0.22245	0.934000	0.57294	-0.154000	0.10130	-0.170000	0.10816	-0.250000	0.11733	ATA		0.333	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		Missense_Mutation
CYP2C19	1557	broad.mit.edu	37	10	96602729	96602729	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr10:96602729T>A	ENST00000371321.3	+	7	1179	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	366					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.L366Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCACCAGCCTGCCCCATGCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											199.0	164.0	176.0					10																	96602729		2203	4300	6503	96592719	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1097T>A	10.37:g.96602729T>A	ENSP00000360372:p.Leu366Gln		96592719	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246000	0.39697	.	.	ENSG00000165841	ENST00000371321	T	0.73575	-0.76	3.37	3.37	0.38596	.	0.392194	0.19736	U	0.107229	D	0.86715	0.5999	M	0.93062	3.375	0.09310	N	1	D	0.76494	0.999	D	0.63597	0.916	T	0.78507	-0.2177	10	0.87932	D	0	.	10.0786	0.42375	0.0:0.0:0.0:1.0	.	366	P33261	CP2CJ_HUMAN	Q	366	ENSP00000360372:L366Q	ENSP00000360372:L366Q	L	+	2	0	CYP2C19	96592719	0.255000	0.24002	0.006000	0.13384	0.008000	0.06430	3.556000	0.53734	1.302000	0.44855	0.414000	0.27820	CTG		0.517	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		Missense_Mutation
RAPSN	5913	broad.mit.edu	37	11	47463166	47463166	+	Missense_Mutation	SNP	G	G	C	rs376607111		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:47463166G>C	ENST00000298854.2	-	5	1122	c.909C>G	c.(907-909)gaC>gaG	p.D303E	RAPSN_ENST00000528356.1_5'UTR|RAPSN_ENST00000529341.1_Intron|RAPSN_ENST00000524487.1_Missense_Mutation_p.D250E|RAPSN_ENST00000352508.3_Intron|RNU6-1302P_ENST00000516518.1_RNA	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	303					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.D303E(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						ACCTCACCTTGTCCAGCGCCT	0.642																																																1	Substitution - Missense(1)	ovary(1)	11						G	GLU/ASP,	1,4399	2.1+/-5.4	0,1,2199	30.0	31.0	31.0		909,	3.3	1.0	11		31	0,8594		0,0,4297	no	missense,intron	RAPSN	NM_005055.4,NM_032645.4	45,	0,1,6496	CC,CG,GG		0.0,0.0227,0.0077	benign,	303/413,	47463166	1,12993	2200	4297	6497	47419742	SO:0001583	missense	5913				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.909C>G	11.37:g.47463166G>C	ENSP00000298854:p.Asp303Glu		47419742	Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	CCDS7936.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373463	0.24857	2.27E-4	0.0	ENSG00000165917	ENST00000298854;ENST00000524487	T;D	0.92249	-0.91;-3.0	5.28	3.27	0.37495	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.092362	0.64402	D	0.000001	T	0.81777	0.4894	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.73448	-0.3979	10	0.07325	T	0.83	-52.9596	12.2873	0.54798	0.073:0.1307:0.7963:0.0	.	303	Q13702	RAPSN_HUMAN	E	303;250	ENSP00000298854:D303E;ENSP00000435551:D250E	ENSP00000298854:D303E	D	-	3	2	RAPSN	47419742	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	0.999000	0.29757	1.210000	0.43336	0.563000	0.77884	GAC		0.642	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			Missense_Mutation
OR8H1	219469	broad.mit.edu	37	11	56057870	56057870	+	Silent	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:56057870G>T	ENST00000313022.2	-	1	696	c.669C>A	c.(667-669)acC>acA	p.T223T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T223T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTTCAGGATGGTAGAGAGAA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	11											136.0	125.0	129.0					11																	56057870		2201	4294	6495	55814446	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.669C>A	11.37:g.56057870G>T			55814446	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1	SNP	47	Broad																																																																																				0.393	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		Silent
SSRP1	6749	broad.mit.edu	37	11	57095888	57095888	+	Silent	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:57095888G>A	ENST00000278412.2	-	13	1760	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	498	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.N498N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGCAGAGGCGTTGCTGTCAA	0.552																																					Colon(89;1000 1340 6884 23013 41819)											1	Substitution - coding silent(1)	ovary(1)	11											80.0	71.0	74.0					11																	57095888		2201	4296	6497	56852464	SO:0001819	synonymous_variant	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1494C>T	11.37:g.57095888G>A			56852464	Q5BJG8	Silent	SNP	ENST00000278412.2	37	CCDS7952.1	SNP	40	Broad																																																																																				0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		Silent
TCN1	6947	broad.mit.edu	37	11	59630092	59630092	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:59630092C>A	ENST00000257264.3	-	3	467	c.363G>T	c.(361-363)aaG>aaT	p.K121N	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	121	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.K121N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTTTCTAGCTTGTCGATCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	11											142.0	137.0	139.0					11																	59630092		2201	4295	6496	59386668	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.363G>T	11.37:g.59630092C>A	ENSP00000257264:p.Lys121Asn		59386668	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	CCDS7978.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576879	0.45902	.	.	ENSG00000134827	ENST00000257264	T	0.36699	1.24	5.43	-10.9	0.00192	.	2.120580	0.02055	N	0.050303	T	0.25419	0.0618	L	0.56769	1.78	0.09310	N	1	B	0.15719	0.014	B	0.23018	0.043	T	0.14783	-1.0460	10	0.17832	T	0.49	.	3.1094	0.06352	0.1867:0.3937:0.2808:0.1389	.	121	P20061	TCO1_HUMAN	N	121	ENSP00000257264:K121N	ENSP00000257264:K121N	K	-	3	2	TCN1	59386668	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-4.069000	0.00301	-1.499000	0.01821	0.650000	0.86243	AAG		0.378	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		Missense_Mutation
PACS1	55690	broad.mit.edu	37	11	65978677	65978677	+	Missense_Mutation	SNP	C	C	T	rs398123009		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:65978677C>T	ENST00000320580.4	+	4	640	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	203			R -> W (in MRD17). {ECO:0000269|PubMed:23159249}.	Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.R203W(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTACAAGAATCGGACCATCTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											201.0	168.0	179.0					11																	65978677		2201	4295	6496	65735253	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.607C>T	11.37:g.65978677C>T	ENSP00000316454:p.Arg203Trp		65735253	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102284	0.76983	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.38077	1.16	4.79	4.79	0.61399	.	0.111023	0.64402	D	0.000006	T	0.63331	0.2502	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.948;0.987	T	0.69083	-0.5239	10	0.87932	D	0	-22.9264	12.765	0.57386	0.1648:0.8352:0.0:0.0	.	203;203	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	W	203;100;105	ENSP00000316454:R203W	ENSP00000316454:R203W	R	+	1	2	PACS1	65735253	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.044000	0.41241	2.659000	0.90383	0.313000	0.20887	CGG		0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		Missense_Mutation
DDIAS	220042	broad.mit.edu	37	11	82639884	82639884	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:82639884C>T	ENST00000533655.1	+	4	391	c.179C>T	c.(178-180)tCc>tTc	p.S60F	C11orf82_ENST00000525361.1_Missense_Mutation_p.S60F|C11orf82_ENST00000430323.2_Missense_Mutation_p.S60F|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_Missense_Mutation_p.S60F|C11orf82_ENST00000524921.1_Missense_Mutation_p.S60F	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		60					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S60F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TACAAACTTTCCTTAAAAGTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											109.0	110.0	109.0					11																	82639884		2203	4299	6502	82317532	SO:0001583	missense	220042																														ENST00000533655.1:c.179C>T	11.37:g.82639884C>T	ENSP00000435421:p.Ser60Phe		82317532	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851149	0.71719	.	.	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.061993	0.64402	D	0.000002	T	0.47488	0.1448	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.80764	0.943;0.994	T	0.42292	-0.9460	9	.	.	.	.	14.9095	0.70746	0.0:0.8572:0.1428:0.0	.	60;60	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	F	60;60;60;60;60;121;60;60;60	ENSP00000414687:S60F;ENSP00000435421:S60F	.	S	+	2	0	C11orf82	82317532	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.990000	0.56965	2.552000	0.86080	0.557000	0.71058	TCC		0.358	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			Missense_Mutation
FAT3	120114	broad.mit.edu	37	11	92087887	92087887	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:92087887T>G	ENST00000298047.6	+	1	2626	c.2609T>G	c.(2608-2610)gTc>gGc	p.V870G	FAT3_ENST00000409404.2_Missense_Mutation_p.V870G|FAT3_ENST00000541502.1_Missense_Mutation_p.V870G|FAT3_ENST00000525166.1_Missense_Mutation_p.V720G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	870	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACTCAGTCTTGACAGAT	0.408										TCGA Ovarian(4;0.039)																																						0			11											99.0	96.0	97.0					11																	92087887		1955	4142	6097	91727535	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2609T>G	11.37:g.92087887T>G	ENSP00000298047:p.Val870Gly		91727535	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		SNP	58	Broad	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345294	0.61073	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53206	3.99;3.99;0.63;3.99	5.71	5.71	0.89125	.	.	.	.	.	T	0.50188	0.1601	L	0.39514	1.22	0.58432	D	0.999999	P	0.40250	0.709	P	0.46975	0.533	T	0.53648	-0.8409	9	0.87932	D	0	.	15.1667	0.72833	0.0:0.0:0.0:1.0	.	870	Q8TDW7-3	.	G	870;870;870;720	ENSP00000298047:V870G;ENSP00000387040:V870G;ENSP00000443786:V870G;ENSP00000432586:V720G	ENSP00000298047:V870G	V	+	2	0	FAT3	91727535	0.986000	0.35501	1.000000	0.80357	0.983000	0.72400	7.975000	0.88055	2.180000	0.69256	0.383000	0.25322	GTC		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		Missense_Mutation
ACAT1	38	broad.mit.edu	37	11	108012384	108012384	+	Silent	SNP	T	T	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:108012384T>C	ENST00000265838.4	+	8	874	c.783T>C	c.(781-783)ttT>ttC	p.F261F		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	261					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.F261F(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTGTTGATTTTAGCAAAGTTC	0.303																																																1	Substitution - coding silent(1)	ovary(1)	11											88.0	91.0	90.0					11																	108012384		2201	4298	6499	107517594	SO:0001819	synonymous_variant	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.783T>C	11.37:g.108012384T>C			107517594	B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	CCDS8339.1	SNP	61	Broad																																																																																				0.303	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		Silent
FGF14	2259	broad.mit.edu	37	13	102379046	102379046	+	Silent	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr13:102379046A>G	ENST00000376143.4	-	4	522	c.523T>C	c.(523-525)Tta>Cta	p.L175L	FGF14_ENST00000376131.4_Silent_p.L180L	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	175					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.L180L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTATTTAATCCCAAAAAC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	13											132.0	121.0	125.0					13																	102379046		2203	4300	6503	101177047	SO:0001819	synonymous_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.523T>C	13.37:g.102379046A>G			101177047	Q86YN7|Q96QX6	Silent	SNP	ENST00000376143.4	37	CCDS9501.1	SNP	4	Broad																																																																																				0.373	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			Silent
AKAP6	9472	broad.mit.edu	37	14	33015182	33015182	+	Silent	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:33015182G>A	ENST00000280979.4	+	4	1493	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	AKAP6_ENST00000557354.1_Silent_p.L441L|AKAP6_ENST00000557272.1_Silent_p.L441L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	441					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.L441L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCCTGGTATTGCAGTCTTCTT	0.473																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - coding silent(1)	ovary(1)	14											194.0	209.0	204.0					14																	33015182		2203	4300	6503	32084933	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1323G>A	14.37:g.33015182G>A			32084933	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1	SNP	46	Broad																																																																																				0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		Silent
GPATCH2L	55668	broad.mit.edu	37	14	76644340	76644340	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:76644340A>T	ENST00000261530.7	+	7	1128	c.1062A>T	c.(1060-1062)aaA>aaT	p.K354N	GPATCH2L_ENST00000312858.5_Intron|GPATCH2L_ENST00000553588.1_5'Flank	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	354								p.K354N(1)									GAAAGAATAAAGCGTTGGCTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	14											173.0	181.0	178.0					14																	76644340		2203	4300	6503	75714093	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1062A>T	14.37:g.76644340A>T	ENSP00000261530:p.Lys354Asn		75714093	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654055	0.67472	.	.	ENSG00000089916	ENST00000261530	T	0.45276	0.9	5.2	5.2	0.72013	.	1.316990	0.04680	N	0.412180	T	0.30541	0.0768	N	0.08118	0	0.80722	D	1	B	0.34290	0.447	B	0.32022	0.139	T	0.03453	-1.1035	10	0.54805	T	0.06	-41.5174	13.936	0.64026	1.0:0.0:0.0:0.0	.	354	Q9NWQ4	CN118_HUMAN	N	354	ENSP00000261530:K354N	ENSP00000261530:K354N	K	+	3	2	C14orf118	75714093	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	4.102000	0.57776	2.082000	0.62665	0.533000	0.62120	AAA		0.348	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		Missense_Mutation
BDKRB1	623	broad.mit.edu	37	14	96730614	96730614	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:96730614C>A	ENST00000216629.6	+	3	1201	c.595C>A	c.(595-597)Cac>Aac	p.H199N	BDKRB1_ENST00000553356.1_Missense_Mutation_p.H199N|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	199					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.H199N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGAGGCCTGGCACTTTGCAAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	14											86.0	78.0	81.0					14																	96730614		2203	4300	6503	95800367	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.595C>A	14.37:g.96730614C>A	ENSP00000216629:p.His199Asn		95800367	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	1.560	-0.536958	0.04082	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.34472	1.36;1.36	4.95	0.411	0.16392	GPCR, rhodopsin-like superfamily (1);	0.852869	0.10393	N	0.680207	T	0.13543	0.0328	N	0.05031	-0.125	0.29258	N	0.871531	B;B	0.09022	0.002;0.001	B;B	0.12837	0.007;0.008	T	0.28744	-1.0034	10	0.21540	T	0.41	-5.8753	0.6114	0.00762	0.2679:0.28:0.2584:0.1936	.	199;199	G3V4Y2;P46663	.;BKRB1_HUMAN	N	199	ENSP00000216629:H199N;ENSP00000452064:H199N	ENSP00000216629:H199N	H	+	1	0	BDKRB1	95800367	0.000000	0.05858	0.978000	0.43139	0.309000	0.27889	-0.127000	0.10547	0.487000	0.27698	0.462000	0.41574	CAC		0.567	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			Missense_Mutation
RYR3	6263	broad.mit.edu	37	15	33893658	33893658	+	Silent	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr15:33893658G>T	ENST00000389232.4	+	17	1897	c.1827G>T	c.(1825-1827)ggG>ggT	p.G609G	RYR3_ENST00000415757.3_Silent_p.G609G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	609	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G609G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGCAATGGGGTTGCAGTGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	15											118.0	110.0	113.0					15																	33893658		2064	4218	6282	31680950	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1827G>T	15.37:g.33893658G>T			31680950	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1	SNP	43	Broad																																																																																				0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			Silent
NPRL3	8131	broad.mit.edu	37	16	142697	142697	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr16:142697G>C	ENST00000399953.3	-	10	1460	c.1058C>G	c.(1057-1059)tCc>tGc	p.S353C	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.S174C|Z69720.2_ENST00000601483.1_RNA	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	353					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)	p.S353C(1)		endometrium(1)|large_intestine(3)|ovary(2)	6						GAACTGGTGGGAGAACTGCTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											52.0	62.0	59.0					16																	142697		2112	4227	6339	82697	SO:0001583	missense	8131				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.1058C>G	16.37:g.142697G>C	ENSP00000382834:p.Ser353Cys		82697	D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242941	0.79912	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	4.87	4.87	0.63330	.	0.159555	0.56097	D	0.000023	T	0.77061	0.4075	.	.	.	0.80722	D	1	P;D;D;P	0.67145	0.831;0.97;0.996;0.857	P;P;P;P	0.62649	0.652;0.823;0.905;0.759	T	0.78976	-0.1991	8	0.51188	T	0.08	-18.1935	16.9339	0.86198	0.0:0.0:1.0:0.0	.	275;328;328;353	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	C	353;328;174	.	ENSP00000262313:S328C	S	-	2	0	NPRL3	82697	1.000000	0.71417	0.996000	0.52242	0.514000	0.34195	7.832000	0.86757	2.418000	0.82041	0.561000	0.74099	TCC		0.612	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		Missense_Mutation
TELO2	9894	broad.mit.edu	37	16	1549265	1549265	+	Silent	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr16:1549265G>A	ENST00000262319.6	+	6	1143	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	288					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.L288L(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGGGAACCTGGTGGTGAAGA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	16											174.0	154.0	161.0					16																	1549265		2199	4300	6499	1489266	SO:0001819	synonymous_variant	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.864G>A	16.37:g.1549265G>A			1489266	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1	SNP	47	Broad																																																																																				0.607	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		Silent
RMI2	116028	broad.mit.edu	37	16	11444576	11444576	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr16:11444576C>T	ENST00000312499.5	+	2	414	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	RMI2_ENST00000572173.1_Missense_Mutation_p.L62F|RMI2_ENST00000381820.2_Missense_Mutation_p.L62F|RMI2_ENST00000576027.1_3'UTR|AC009121.1_ENST00000458885.1_RNA|RP11-485G7.6_ENST00000574681.1_RNA	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	125					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L125F(1)		endometrium(1)|kidney(1)|ovary(1)	3						GATGACAGACCTTTCTGATAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	16											115.0	112.0	113.0					16																	11444576		2197	4300	6497	11352077	SO:0001583	missense	116028			AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"""chromosome 16 open reading frame 75"", ""RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"""	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000312499.5:c.373C>T	16.37:g.11444576C>T	ENSP00000310356:p.Leu125Phe		11352077	B3KVZ6|Q49AE2|Q8TBL0	Missense_Mutation	SNP	ENST00000312499.5	37	CCDS10548.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204121	0.79127	.	.	ENSG00000175643	ENST00000381820;ENST00000312499	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.78597	0.4308	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80609	-0.1306	9	0.87932	D	0	-1.7674	11.1292	0.48336	0.0:0.917:0.0:0.083	.	125	Q96E14	RMI2_HUMAN	F	62;125	.	ENSP00000310356:L125F	L	+	1	0	RMI2	11352077	0.994000	0.37717	0.310000	0.25168	0.952000	0.60782	3.111000	0.50360	2.804000	0.96469	0.655000	0.94253	CTT		0.448	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1	NM_152308		Missense_Mutation
ERCC4	2072	broad.mit.edu	37	16	14041793	14041793	+	Silent	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr16:14041793C>T	ENST00000311895.7	+	11	2349	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	780	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S780S(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGAGATCTCCAGCAATGACA	0.512			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	1	Substitution - coding silent(1)	ovary(1)	16											113.0	107.0	109.0					16																	14041793		2197	4300	6497	13949294	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2340C>T	16.37:g.14041793C>T			13949294	A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	CCDS32390.1	SNP	21	Broad																																																																																				0.512	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		Silent
PRRT2	112476	broad.mit.edu	37	16	29824513	29824513	+	Silent	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr16:29824513G>A	ENST00000358758.7	+	2	421	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000300797.6_Silent_p.E46E|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Silent_p.E46E|PAGR1_ENST00000320330.6_5'Flank|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	46					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E46E(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						ACCAGCCAGAGGCCCCGCAGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	16											37.0	39.0	38.0					16																	29824513		2197	4299	6496	29732014	SO:0001819	synonymous_variant	112476			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.138G>A	16.37:g.29824513G>A			29732014	A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Silent	SNP	ENST00000358758.7	37	CCDS10654.1	SNP	35	Broad																																																																																				0.662	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		Silent
EIF4A1	1973	broad.mit.edu	37	17	7480957	7480957	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr17:7480957A>G	ENST00000293831.8	+	8	855	c.839A>G	c.(838-840)aAc>aGc	p.N280S	SNORA67_ENST00000384423.1_RNA|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.N280S|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000582746.1_Missense_Mutation_p.N280S	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	280	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.N280S(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ATCTTCATCAACACCCGGAGG	0.542																																					Melanoma(120;278 1668 15796 27423 46368)											1	Substitution - Missense(1)	ovary(1)	17											122.0	113.0	116.0					17																	7480957		2203	4300	6503	7421681	SO:0001583	missense	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.839A>G	17.37:g.7480957A>G	ENSP00000293831:p.Asn280Ser		7421681	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	CCDS11113.1	SNP	2	Broad	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372720	0.42003	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.05447	3.44	5.35	5.35	0.76521	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	L	0.55481	1.735	0.80722	D	1	P;B;D	0.54207	0.503;0.163;0.965	B;B;B	0.37692	0.109;0.036;0.256	T	0.08086	-1.0739	10	0.66056	D	0.02	-28.8123	13.2955	0.60294	1.0:0.0:0.0:0.0	.	280;280;280	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	S	280;103	ENSP00000293831:N280S	ENSP00000293831:N280S	N	+	2	0	EIF4A1	7421681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.930000	0.92872	2.035000	0.60131	0.459000	0.35465	AAC		0.542	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		Missense_Mutation
LGALS9C	654346	broad.mit.edu	37	17	18387230	18387230	+	Missense_Mutation	SNP	C	C	A	rs139241672	byFrequency	TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr17:18387230C>A	ENST00000328114.6	+	2	162	c.81C>A	c.(79-81)gaC>gaA	p.D27E	LGALS9C_ENST00000581545.1_Missense_Mutation_p.D27E|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.D27E|LGALS9C_ENST00000584941.1_Missense_Mutation_p.D27E|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	27	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)	p.D27E(1)		NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GTCTCCAGGACGGATTTCAGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	17											94.0	68.0	78.0					17																	18387230		2129	3701	5830	18327955	SO:0001583	missense	654346				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.81C>A	17.37:g.18387230C>A	ENSP00000329932:p.Asp27Glu		18327955	B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	CCDS32587.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	c	8.291	0.817668	0.16607	.	.	ENSG00000171916	ENST00000328114	T	0.10860	2.83	2.77	-5.54	0.02544	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.488362	0.19246	N	0.119042	T	0.03915	0.0110	N	0.21617	0.685	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.48222	-0.9054	10	0.05620	T	0.96	.	4.6061	0.12378	0.0:0.396:0.2977:0.3063	.	27	Q6DKI2	LEG9C_HUMAN	E	27	ENSP00000329932:D27E	ENSP00000329932:D27E	D	+	3	2	LGALS9C	18327955	0.002000	0.14202	0.064000	0.19789	0.114000	0.19823	-3.341000	0.00505	-1.697000	0.01420	0.184000	0.17185	GAC		0.567	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		Missense_Mutation
IFI35	3430	broad.mit.edu	37	17	41165628	41165628	+	Missense_Mutation	SNP	G	G	T	rs140488187		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr17:41165628G>T	ENST00000415816.2	+	5	734	c.511G>T	c.(511-513)Gtt>Ttt	p.V171F	IFI35_ENST00000438323.2_Missense_Mutation_p.V173F	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	171					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.V173F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CGATGTGGACGTTCGGGAGCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											259.0	254.0	256.0					17																	41165628		2203	4300	6503	38419154	SO:0001583	missense	3430			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.511G>T	17.37:g.41165628G>T	ENSP00000394579:p.Val171Phe		38419154	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37		SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	3.991	-0.004433	0.07773	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.44482	0.92;0.93	4.93	1.53	0.23141	.	0.857934	0.10601	N	0.655668	T	0.25457	0.0619	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	10	0.48119	T	0.1	.	3.5067	0.07693	0.6501:0.0:0.1851:0.1649	.	171	P80217	IN35_HUMAN	F	171;173	ENSP00000394579:V171F;ENSP00000395590:V173F	ENSP00000394579:V171F	V	+	1	0	IFI35	38419154	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.316000	0.08071	0.079000	0.16929	-1.177000	0.01723	GTT		0.582	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		Missense_Mutation
RGS9	8787	broad.mit.edu	37	17	63221418	63221418	+	Missense_Mutation	SNP	G	G	A	rs190284951	byFrequency	TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr17:63221418G>A	ENST00000262406.9	+	18	1773	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	RGS9_ENST00000449996.3_Missense_Mutation_p.R566Q|RGS9_ENST00000443584.3_Missense_Mutation_p.R566Q	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	569					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R569Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCTCGCAGCCGGCCCAGGGCC	0.667													G|||	4	0.000798722	0.0	0.0058	5008	,	,		16381	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	17						G	GLN/ARG,GLN/ARG	0,3808		0,0,1904	69.0	74.0	72.0		1697,1706	-8.1	0.1	17		72	1,8225		0,1,4112	yes	missense,missense	RGS9	NM_001081955.2,NM_003835.3	43,43	0,1,6016	AA,AG,GG		0.0122,0.0,0.0083	benign,benign	566/672,569/675	63221418	1,12033	1904	4113	6017	60651880	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1706G>A	17.37:g.63221418G>A	ENSP00000262406:p.Arg569Gln		60651880	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	SNP	39	Broad	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	0.062	-1.221551	0.01530	0.0	1.22E-4	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.29142	1.58;1.59	4.03	-8.05	0.01106	.	1.562480	0.03737	N	0.254454	T	0.06325	0.0163	N	0.03115	-0.41	0.09310	N	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17899	-1.0354	10	0.11794	T	0.64	.	1.5733	0.02619	0.2393:0.1054:0.3429:0.3124	.	569;569;566	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	Q	569;566	ENSP00000262406:R569Q;ENSP00000396329:R566Q	ENSP00000262406:R569Q	R	+	2	0	RGS9	60651880	0.000000	0.05858	0.090000	0.20809	0.158000	0.22134	-2.425000	0.01028	-2.613000	0.00444	-0.314000	0.08810	CGG		0.667	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		Missense_Mutation
BPTF	2186	broad.mit.edu	37	17	65900902	65900902	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr17:65900902G>C	ENST00000321892.4	+	11	3197	c.3136G>C	c.(3136-3138)Gtt>Ctt	p.V1046L	BPTF_ENST00000424123.3_Missense_Mutation_p.V907L|BPTF_ENST00000335221.5_Missense_Mutation_p.V1046L|BPTF_ENST00000306378.6_Missense_Mutation_p.V920L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1046					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V920L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATAGGTTTGTTCCTAAATT	0.348																																																1	Substitution - Missense(1)	ovary(1)	17											140.0	141.0	141.0					17																	65900902		2203	4300	6503	63331364	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3136G>C	17.37:g.65900902G>C	ENSP00000315454:p.Val1046Leu		63331364	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595878	0.28445	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.64085	-0.07;-0.08;-0.07	5.78	1.41	0.22369	.	.	.	.	.	T	0.40067	0.1102	N	0.17082	0.46	0.22266	N	0.999249	B;B;B	0.15930	0.0;0.015;0.002	B;B;B	0.12156	0.0;0.007;0.004	T	0.21965	-1.0230	9	0.17369	T	0.5	-1.3303	6.7711	0.23594	0.2129:0.2432:0.5439:0.0	.	1046;920;1046	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	L	920;1046;1046	ENSP00000307208:V920L;ENSP00000334351:V1046L;ENSP00000315454:V1046L	ENSP00000307208:V920L	V	+	1	0	BPTF	63331364	0.993000	0.37304	0.997000	0.53966	0.970000	0.65996	0.515000	0.22801	0.065000	0.16485	0.650000	0.86243	GTT		0.348	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		Missense_Mutation
CYP2A6	1548	broad.mit.edu	37	19	41352954	41352954	+	Silent	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr19:41352954G>T	ENST00000301141.5	-	5	677	c.657C>A	c.(655-657)ctC>ctA	p.L219L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	219					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.L219L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACATCTCATAGAGCTGGGGTT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	19											36.0	32.0	33.0					19																	41352954		2203	4297	6500	46044794	SO:0001819	synonymous_variant	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.657C>A	19.37:g.41352954G>T			46044794	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	CCDS12568.1	SNP	33	Broad																																																																																				0.532	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		Silent
MYH14	79784	broad.mit.edu	37	19	50779348	50779348	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr19:50779348G>T	ENST00000596571.1	+	25	3445	c.3445G>T	c.(3445-3447)Gtg>Ttg	p.V1149L	MYH14_ENST00000440075.2_Missense_Mutation_p.V1190L|MYH14_ENST00000262269.8_Missense_Mutation_p.V1190L|MYH14_ENST00000425460.1_Missense_Mutation_p.V1157L|MYH14_ENST00000376970.2_Missense_Mutation_p.V1182L|MYH14_ENST00000601313.1_Missense_Mutation_p.V1190L|MYH14_ENST00000598205.1_Missense_Mutation_p.V1157L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1149					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V1149L(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTCTGAGCGTGTGGCCAGGAC	0.706																																																1	Substitution - Missense(1)	ovary(1)	19											12.0	16.0	15.0					19																	50779348		2140	4258	6398	55471160	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3445G>T	19.37:g.50779348G>T	ENSP00000472819:p.Val1149Leu		55471160	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176735	0.21704	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	3.47	-0.282	0.12878	Myosin tail (1);	.	.	.	.	T	0.64811	0.2632	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.005;0.003	T	0.55412	-0.8145	9	0.66056	D	0.02	.	10.1951	0.43049	0.0:0.0:0.4833:0.5167	.	1190;1149;1157	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	L	1149;1190;1182;1157;1149;1190	ENSP00000406273:V1190L;ENSP00000366169:V1182L;ENSP00000407879:V1157L;ENSP00000262269:V1190L	ENSP00000262269:V1190L	V	+	1	0	MYH14	55471160	0.000000	0.05858	0.001000	0.08648	0.801000	0.45260	0.493000	0.22451	-0.053000	0.13289	-0.385000	0.06624	GTG		0.706	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		Missense_Mutation
ZNF765	91661	broad.mit.edu	37	19	53912330	53912330	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr19:53912330A>T	ENST00000396408.3	+	4	1639	c.1522A>T	c.(1522-1524)Aac>Tac	p.N508Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N508Y(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											35.0	37.0	36.0					19																	53912330		2170	4286	6456	58604142	SO:0001583	missense	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1522A>T	19.37:g.53912330A>T	ENSP00000379689:p.Asn508Tyr		58604142	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	-	0.001	-2.974918	0.00047	.	.	ENSG00000196417	ENST00000396408	T	0.01059	5.39	1.27	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	L	0.49571	1.57	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.44757	-0.9307	8	.	.	.	.	3.7833	0.08689	0.3889:0.4025:0.2086:0.0	.	508	Q7L2R6	ZN765_HUMAN	Y	508	ENSP00000379689:N508Y	.	N	+	1	0	ZNF765	58604142	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-6.041000	0.00084	-1.428000	0.01989	-1.015000	0.02457	AAC		0.398	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		Missense_Mutation
LILRA1	11024	broad.mit.edu	37	19	55106396	55106396	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr19:55106396C>T	ENST00000251372.3	+	4	519	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.P113S	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	113	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.P113S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCCAGTGACCCCCTGGAGCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											72.0	71.0	71.0					19																	55106396		2203	4300	6503	59798208	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.337C>T	19.37:g.55106396C>T	ENSP00000251372:p.Pro113Ser		59798208	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156287	0.38021	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.11495	2.77;2.77	1.58	0.392	0.16288	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.583908	0.15502	N	0.258976	T	0.29684	0.0741	M	0.85777	2.775	0.20307	N	0.999916	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.73	T	0.04115	-1.0976	10	0.54805	T	0.06	.	5.564	0.17160	0.0:0.6484:0.3516:0.0	.	113;113	O75019-2;O75019	.;LIRA1_HUMAN	S	113	ENSP00000251372:P113S;ENSP00000413715:P113S	ENSP00000251372:P113S	P	+	1	0	LILRA1	59798208	0.000000	0.05858	0.798000	0.32154	0.025000	0.11179	-0.284000	0.08422	0.189000	0.20188	0.194000	0.17425	CCC		0.622	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		Missense_Mutation
KIF3C	3797	broad.mit.edu	37	2	26203452	26203452	+	Silent	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr2:26203452G>T	ENST00000264712.3	-	1	1914	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	KIF3C_ENST00000405914.1_Silent_p.P445P	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	445					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P445P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGGGCTGGGGCGGGCGGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											88.0	93.0	92.0					2																	26203452		2203	4300	6503	26056956	SO:0001819	synonymous_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1335C>A	2.37:g.26203452G>T			26056956	O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	CCDS1719.1	SNP	43	Broad																																																																																				0.612	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			Silent
IL18RAP	8807	broad.mit.edu	37	2	103053804	103053804	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr2:103053804G>T	ENST00000264260.2	+	6	1301	c.712G>T	c.(712-714)Gtt>Ttt	p.V238F	AC007278.3_ENST00000450893.1_RNA|AC007278.2_ENST00000436582.1_RNA|IL18RAP_ENST00000409369.1_Missense_Mutation_p.V96F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	238					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V238F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGAGCTGTTGTTCAAGTGAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											121.0	106.0	111.0					2																	103053804		2203	4300	6503	102420236	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.712G>T	2.37:g.103053804G>T	ENSP00000264260:p.Val238Phe		102420236	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580227	0.65992	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	D;D	0.85955	-2.05;-2.05	5.95	5.07	0.68467	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.093107	0.47093	D	0.000260	D	0.90352	0.6981	M	0.69823	2.125	0.44316	D	0.997193	D	0.89917	1.0	D	0.85130	0.997	D	0.88881	0.3339	10	0.32370	T	0.25	.	10.984	0.47513	0.0856:0.0:0.9144:0.0	.	238	O95256	I18RA_HUMAN	F	238;96	ENSP00000264260:V238F;ENSP00000387201:V96F	ENSP00000264260:V238F	V	+	1	0	IL18RAP	102420236	0.869000	0.29996	0.997000	0.53966	0.737000	0.42083	1.225000	0.32551	1.517000	0.48917	0.563000	0.77884	GTT		0.388	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		Missense_Mutation
BIN1	274	broad.mit.edu	37	2	127828167	127828167	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr2:127828167C>T	ENST00000316724.5	-	4	688	c.277G>A	c.(277-279)Gat>Aat	p.D93N	BIN1_ENST00000393040.3_Missense_Mutation_p.D93N|BIN1_ENST00000346226.3_Missense_Mutation_p.D93N|BIN1_ENST00000409400.1_Missense_Mutation_p.D93N|BIN1_ENST00000348750.4_Missense_Mutation_p.D93N|BIN1_ENST00000259238.4_Missense_Mutation_p.D93N|BIN1_ENST00000393041.3_Missense_Mutation_p.D93N|BIN1_ENST00000351659.3_Missense_Mutation_p.D93N|BIN1_ENST00000352848.3_Missense_Mutation_p.D93N|BIN1_ENST00000357970.3_Missense_Mutation_p.D93N|BIN1_ENST00000376113.2_Missense_Mutation_p.D93N	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	93	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.D93N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCGGGCCAATCGGGCTCATAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											190.0	183.0	185.0					2																	127828167		2203	4300	6503	127544637	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.277G>A	2.37:g.127828167C>T	ENSP00000316779:p.Asp93Asn		127544637	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	.	19.70	3.876768	0.72180	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.28	4.28	0.50868	BAR (3);	0.259797	0.43919	D	0.000520	T	0.74913	0.3779	M	0.67700	2.07	0.58432	D	0.999999	D;B;B;P;B;B;P;P;B;P;B;B;B	0.60160	0.987;0.285;0.269;0.543;0.157;0.238;0.956;0.923;0.403;0.877;0.395;0.395;0.04	P;B;B;B;B;B;P;P;B;B;B;B;B	0.62560	0.904;0.178;0.174;0.158;0.082;0.042;0.771;0.453;0.112;0.394;0.155;0.044;0.041	T	0.78899	-0.2022	10	0.72032	D	0.01	-12.6344	15.6447	0.77039	0.0:1.0:0.0:0.0	.	93;69;93;93;93;93;93;93;93;93;93;93;93	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	N	93	ENSP00000365281:D93N;ENSP00000350654:D93N;ENSP00000376760:D93N;ENSP00000259237:D93N;ENSP00000259238:D93N;ENSP00000315411:D93N;ENSP00000376761:D93N;ENSP00000315388:D93N;ENSP00000315284:D93N;ENSP00000316779:D93N;ENSP00000386797:D93N	ENSP00000259238:D93N	D	-	1	0	BIN1	127544637	1.000000	0.71417	0.985000	0.45067	0.077000	0.17291	5.377000	0.66184	2.214000	0.71695	0.561000	0.74099	GAT		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		Missense_Mutation
MYO1B	4430	broad.mit.edu	37	2	192261220	192261220	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr2:192261220G>C	ENST00000392318.3	+	21	2539	c.2292G>C	c.(2290-2292)tgG>tgC	p.W764C	MYO1B_ENST00000439065.2_Missense_Mutation_p.W38C|MYO1B_ENST00000304164.4_Missense_Mutation_p.W764C|MYO1B_ENST00000339514.4_Missense_Mutation_p.W764C|MYO1B_ENST00000392316.1_Missense_Mutation_p.W764C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	764	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.W764C(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCCGGGGTTGGAAGGTGAGTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											127.0	127.0	127.0					2																	192261220		2203	4300	6503	191969465	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2292G>C	2.37:g.192261220G>C	ENSP00000376132:p.Trp764Cys		191969465	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212714	0.79352	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.979;0.998;0.996	T	0.59268	-0.7486	10	0.62326	D	0.03	.	17.9441	0.89034	0.0:0.0:1.0:0.0	.	38;764;764	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	C	764;764;764;764;38	ENSP00000341903:W764C;ENSP00000376132:W764C;ENSP00000306382:W764C;ENSP00000376130:W764C;ENSP00000391442:W38C	ENSP00000306382:W764C	W	+	3	0	MYO1B	191969465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.034000	0.93747	2.667000	0.90743	0.655000	0.94253	TGG		0.418	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		Missense_Mutation
UGT1A10	54575	broad.mit.edu	37	2	234545823	234545823	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr2:234545823T>C	ENST00000344644.5	+	1	724	c.655T>C	c.(655-657)Ttt>Ctt	p.F219L	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.F219L	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	219					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.F219L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GGACCATTTATTTTGCCAGTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											203.0	214.0	211.0					2																	234545823		2203	4300	6503	234210562	SO:0001583	missense	54575			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.655T>C	2.37:g.234545823T>C	ENSP00000343838:p.Phe219Leu		234210562	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	CCDS33403.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.361341	0.00214	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.56275	0.47;0.47	3.52	-0.646	0.11472	.	.	.	.	.	T	0.19805	0.0476	N	0.02142	-0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.003;0.012	T	0.25745	-1.0123	9	0.14252	T	0.57	.	4.799	0.13287	0.0:0.3919:0.1669:0.4412	.	219;219	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	L	219	ENSP00000343838:F219L;ENSP00000362544:F219L	ENSP00000343838:F219L	F	+	1	0	UGT1A10	234210562	0.000000	0.05858	0.118000	0.21660	0.067000	0.16453	-3.164000	0.00576	0.048000	0.15891	0.333000	0.21579	TTT		0.428	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		Missense_Mutation
VPS16	64601	broad.mit.edu	37	20	2846086	2846086	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr20:2846086A>G	ENST00000380445.3	+	22	2288	c.2216A>G	c.(2215-2217)gAt>gGt	p.D739G	VPS16_ENST00000380443.3_Missense_Mutation_p.D425G|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Missense_Mutation_p.D595G	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	739					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.D739G(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATTTGGAAGATTGGGAAGAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											55.0	50.0	52.0					20																	2846086		2203	4300	6503	2794086	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2216A>G	20.37:g.2846086A>G	ENSP00000369810:p.Asp739Gly		2794086	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706837	0.68615	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.50548	0.74;0.74;0.74	5.5	5.5	0.81552	Vps16, C-terminal (1);	0.093797	0.64402	D	0.000001	T	0.57636	0.2067	M	0.83223	2.63	0.80722	D	1	P;P;P;P	0.49185	0.77;0.92;0.874;0.92	P;B;B;B	0.45998	0.5;0.446;0.443;0.446	T	0.66184	-0.5987	10	0.66056	D	0.02	-15.3781	13.5537	0.61747	1.0:0.0:0.0:0.0	.	215;425;595;739	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	G	739;595;425	ENSP00000369810:D739G;ENSP00000369836:D595G;ENSP00000369808:D425G	ENSP00000369808:D425G	D	+	2	0	VPS16	2794086	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	8.723000	0.91458	2.076000	0.62316	0.533000	0.62120	GAT		0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		Missense_Mutation
BPIFB2	80341	broad.mit.edu	37	20	31601751	31601752	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr20:31601751_31601752TG>AA	ENST00000170150.3	+	5	639_640	c.444_445TG>AA	c.(442-447)gaTGgc>gaAAgc	p.148_149DG>ES		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	148						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.D148_G149>ES(1)									ACGAGTTTGATGGCAGTAACAG	0.579																																																1	Complex - compound substitution(1)	ovary(1)	20																																								31065413	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	Exception_encountered	20.37:g.31601751_31601752delinsAA	ENSP00000170150:p.D148_G149delinsES		31065412	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	DNP	ENST00000170150.3	37	CCDS13210.1	DNP	51	Broad																																																																																				0.579	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		Missense_Mutation
DSN1	79980	broad.mit.edu	37	20	35399277	35399277	+	Splice_Site	SNP	T	T	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr20:35399277T>G	ENST00000426836.1	-	3	726	c.354A>C	c.(352-354)acA>acC	p.T118T	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Splice_Site_p.T102T|DSN1_ENST00000373750.4_Splice_Site_p.T118T|DSN1_ENST00000373740.3_Splice_Site_p.T46T|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373745.3_Splice_Site_p.T118T	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	118					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.T118T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GCACCCCACCTGTGATGCCCT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	20											163.0	167.0	166.0					20																	35399277		2203	4300	6503	34832691	SO:0001630	splice_region_variant	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.355+1A>C	20.37:g.35399277T>G			34832691	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	CCDS13286.1	SNP	55	Broad																																																																																				0.527	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918	Silent	Silent
DNTTIP1	116092	broad.mit.edu	37	20	44430077	44430077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr20:44430077G>T	ENST00000372622.3	+	6	546	c.478G>T	c.(478-480)Gga>Tga	p.G160*		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	160						nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G160*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TGCCCATCGAGGAAGCCCCCT	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	20											134.0	122.0	126.0					20																	44430077		2203	4300	6503	43863484	SO:0001587	stop_gained	116092			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.478G>T	20.37:g.44430077G>T	ENSP00000361705:p.Gly160*		43863484	B2RA18|Q96DE3|Q9BQP2|Q9H148	Nonsense_Mutation	SNP	ENST00000372622.3	37	CCDS13369.1	SNP	35	Broad	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.267522|5.267522|5.267522	0.95399|0.95399|0.95399	.|.|.	.|.|.	ENSG00000101457|ENSG00000101457|ENSG00000101457	ENST00000435014|ENST00000372622;ENST00000415790|ENST00000456939	.|.|T	.|.|0.52295	.|.|0.67	6.06|6.06|6.06	6.06|6.06|6.06	0.98353|0.98353|0.98353	.|.|.	.|0.159129|.	.|0.56097|.	.|D|.	.|0.000025|.	T|.|T	0.60183|.|0.60183	0.2249|.|0.2249	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.70103|.|0.70103	-0.4964|.|-0.4964	3|.|5	.|0.11182|0.72032	.|T|D	.|0.66|0.01	-17.6249|-17.6249|-17.6249	12.4937|12.4937|12.4937	0.55916|0.55916|0.55916	0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|M	86|160;120|110	.|.|ENSP00000401024:R110M	.|ENSP00000361705:G160X|ENSP00000401024:R110M	E|G|R	+|+|+	3|1|2	2|0|0	DNTTIP1|DNTTIP1|DNTTIP1	43863484|43863484|43863484	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	5.943000|5.943000|5.943000	0.70211|0.70211|0.70211	2.882000|2.882000|2.882000	0.98803|0.98803|0.98803	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|AGG		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		Nonsense_Mutation
SULF2	55959	broad.mit.edu	37	20	46365480	46365480	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr20:46365480C>A	ENST00000359930.4	-	3	1233	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	SULF2_ENST00000361612.4_Missense_Mutation_p.A128S|SULF2_ENST00000467815.1_Missense_Mutation_p.A128S|SULF2_ENST00000484875.1_Missense_Mutation_p.A128S|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	128					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.A128S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGGTACACGGCAAAGGTGCGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	20											155.0	111.0	126.0					20																	46365480		2203	4300	6503	45798887	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.382G>T	20.37:g.46365480C>A	ENSP00000353007:p.Ala128Ser		45798887	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643318	0.87859	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-3.55	5.34	5.34	0.76211	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.157992	0.56097	D	0.000032	D	0.96380	0.8819	M	0.79258	2.445	0.50039	D	0.999849	B;B;B	0.29341	0.242;0.121;0.147	B;B;B	0.31751	0.135;0.032;0.054	D	0.95497	0.8574	10	0.59425	D	0.04	-15.8791	13.9501	0.64111	0.1518:0.8482:0.0:0.0	.	128;128;128	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	S	128	ENSP00000353007:A128S;ENSP00000418290:A128S;ENSP00000354662:A128S;ENSP00000418442:A128S;ENSP00000410026:A128S	ENSP00000353007:A128S	A	-	1	0	SULF2	45798887	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.922000	0.70036	2.502000	0.84385	0.561000	0.74099	GCC		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		Missense_Mutation
B4GALT5	9334	broad.mit.edu	37	20	48263528	48263528	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr20:48263528G>T	ENST00000371711.4	-	3	525	c.338C>A	c.(337-339)aCc>aAc	p.T113N		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.T113N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCAGGGCAGGTATGGTTTGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											203.0	186.0	192.0					20																	48263528		2203	4300	6503	47696935	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.338C>A	20.37:g.48263528G>T	ENSP00000360776:p.Thr113Asn		47696935	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389696	0.42410	.	.	ENSG00000158470	ENST00000371711	T	0.34667	1.35	5.45	5.45	0.79879	.	0.152267	0.64402	D	0.000012	T	0.32133	0.0819	L	0.36672	1.1	0.33982	D	0.648079	B	0.24823	0.112	B	0.22880	0.042	T	0.28554	-1.0040	10	0.21540	T	0.41	-11.0264	19.6309	0.95701	0.0:0.0:1.0:0.0	.	113	O43286	B4GT5_HUMAN	N	113	ENSP00000360776:T113N	ENSP00000360776:T113N	T	-	2	0	B4GALT5	47696935	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.511000	0.53400	2.716000	0.92895	0.650000	0.86243	ACC		0.453	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		Missense_Mutation
POTED	317754	broad.mit.edu	37	21	14987796	14987796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr21:14987796G>T	ENST00000299443.5	+	3	767	c.715G>T	c.(715-717)Gga>Tga	p.G239*		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	239						plasma membrane (GO:0005886)		p.G239*(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGATGAGTATGGAAATACCGC	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	21											0.0	1.0	1.0					21																	14987796		0	3	3	13909667	SO:0001587	stop_gained	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.715G>T	21.37:g.14987796G>T	ENSP00000299443:p.Gly239*		13909667	C9JCF7	Nonsense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314250	0.60414	.	.	ENSG00000166351	ENST00000299443	.	.	.	1.4	1.4	0.22301	.	0.428210	0.19857	N	0.104504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.2468	0.20823	0.0:0.0:1.0:0.0	.	.	.	.	X	239	.	ENSP00000299443:G239X	G	+	1	0	POTED	13909667	0.944000	0.32072	0.021000	0.16686	0.018000	0.09664	1.508000	0.35769	1.081000	0.41110	0.184000	0.17185	GGA		0.378	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		Nonsense_Mutation
PAXBP1	94104	broad.mit.edu	37	21	34117135	34117135	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr21:34117135A>C	ENST00000331923.4	-	13	2347	c.2158T>G	c.(2158-2160)Tca>Gca	p.S720A	PAXBP1_ENST00000290178.4_Missense_Mutation_p.S720A|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	720					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S720A(1)									TTCACTACTGAAGGATATCCA	0.313																																																1	Substitution - Missense(1)	ovary(1)	21											112.0	124.0	120.0					21																	34117135		2203	4297	6500	33039006	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2158T>G	21.37:g.34117135A>C	ENSP00000328992:p.Ser720Ala		33039006	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146336	0.57044	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.42131	0.98;0.98	6.17	6.17	0.99709	GC-rich sequence DNA-binding factor domain (1);	0.111724	0.64402	D	0.000013	T	0.26557	0.0649	N	0.17082	0.46	0.38808	D	0.955359	B;B;B	0.31256	0.225;0.316;0.139	B;B;B	0.29353	0.078;0.101;0.06	T	0.19484	-1.0304	10	0.26408	T	0.33	-3.9916	11.5539	0.50737	0.8666:0.0:0.0:0.1334	.	720;720;229	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	A	720	ENSP00000328992:S720A;ENSP00000290178:S720A	ENSP00000290178:S720A	S	-	1	0	GCFC1	33039006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.938000	0.63519	2.371000	0.80710	0.533000	0.62120	TCA		0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		Missense_Mutation
HLCS	3141	broad.mit.edu	37	21	38309277	38309277	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr21:38309277G>T	ENST00000399120.1	-	5	1698	c.468C>A	c.(466-468)aaC>aaA	p.N156K	HLCS_ENST00000336648.4_Missense_Mutation_p.N156K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	156					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.N156K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCCGTGAGGTTGACTCTCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	21											87.0	71.0	76.0					21																	38309277		2203	4300	6503	37231147	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.468C>A	21.37:g.38309277G>T	ENSP00000382071:p.Asn156Lys		37231147	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373646	0.24857	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98028	-4.67;-4.67	5.77	3.65	0.41850	.	0.612689	0.19814	N	0.105470	D	0.96002	0.8698	M	0.73962	2.25	0.09310	N	1	B;P	0.44734	0.38;0.842	B;B	0.37601	0.056;0.254	D	0.90590	0.4536	10	0.29301	T	0.29	.	13.2817	0.60219	0.1519:0.0:0.8481:0.0	.	156;156	B2RAH1;P50747	.;BPL1_HUMAN	K	156	ENSP00000382071:N156K;ENSP00000338387:N156K	ENSP00000338387:N156K	N	-	3	2	HLCS	37231147	0.292000	0.24362	0.002000	0.10522	0.079000	0.17450	0.660000	0.25009	1.449000	0.47699	0.561000	0.74099	AAC		0.587	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			Missense_Mutation
SLC6A1	6529	broad.mit.edu	37	3	11059656	11059656	+	Silent	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr3:11059656C>T	ENST00000287766.4	+	4	787	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	122					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F122F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTCCTATGTTCAAGGGTAAGT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	3											112.0	122.0	119.0					3																	11059656		2203	4300	6503	11034656	SO:0001819	synonymous_variant	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.366C>T	3.37:g.11059656C>T			11034656	Q8N4K8	Silent	SNP	ENST00000287766.4	37	CCDS2603.1	SNP	29	Broad																																																																																				0.617	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		Silent
CTNNB1	1499	broad.mit.edu	37	3	41278077	41278077	+	Splice_Site	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr3:41278077A>G	ENST00000349496.5	+	13	2234		c.e13-1		CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E632_S681>SV(1)|p.?(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTTGTCTCTTAGCGACATATG	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	2	Unknown(1)|Complex - deletion inframe(1)	ovary(1)|kidney(1)	3											130.0	133.0	132.0					3																	41278077		2203	4300	6503	41253081	SO:0001630	splice_region_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1955-1A>G	3.37:g.41278077A>G			41253081	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Splice_Site_SNP	SNP	ENST00000349496.5	37	CCDS2694.1	SNP	15	Broad	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692297	0.30052	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.958	0.79902	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNB1	41253081	1.000000	0.71417	0.741000	0.31004	0.064000	0.16182	9.339000	0.96797	2.162000	0.67917	0.460000	0.39030	.		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	Intron	Splice_Site_SNP
COL7A1	1294	broad.mit.edu	37	3	48609450	48609450	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr3:48609450C>G	ENST00000328333.8	-	91	7159	c.7052G>C	c.(7051-7053)gGa>gCa	p.G2351A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2319A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2351	Triple-helical region.		G -> R (in a patient with dystrophic epidermolysis bullosa; mitis type; dbSNP:rs1800013).		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2351A(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGGGTCTCCGGGCTCCCC	0.662																																																1	Substitution - Missense(1)	ovary(1)	3											36.0	34.0	34.0					3																	48609450		2203	4300	6503	48584454	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7052G>C	3.37:g.48609450C>G	ENSP00000332371:p.Gly2351Ala		48584454	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735285	0.48939	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99329	-5.75;-5.75	5.56	5.56	0.83823	.	0.000000	0.42682	D	0.000679	D	0.99670	0.9877	H	0.97732	4.065	0.47341	D	0.999394	D	0.89917	1.0	D	0.97110	1.0	D	0.97570	1.0104	10	0.72032	D	0.01	.	17.7149	0.88333	0.0:1.0:0.0:0.0	.	2351	Q02388	CO7A1_HUMAN	A	2351;2319	ENSP00000332371:G2351A;ENSP00000412569:G2319A	ENSP00000332371:G2351A	G	-	2	0	COL7A1	48584454	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.961000	0.70356	2.601000	0.87937	0.655000	0.94253	GGA		0.662	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		Missense_Mutation
UQCRC1	7384	broad.mit.edu	37	3	48643278	48643279	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr3:48643278_48643279CC>AA	ENST00000203407.5	-	3	637_638	c.221_222GG>TT	c.(220-222)tGG>tTT	p.W74F		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	74					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.W74F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAACATCAATCCACACTCCCAC	0.51																																					NSCLC(81;1112 1427 27031 32409 45529)											1	Substitution - Missense(1)	ovary(1)	3																																								48618283	SO:0001583	missense	7384			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.221_222delinsAA	3.37:g.48643278_48643279delinsAA	ENSP00000203407:p.Trp74Phe		48618282	B2R7R8|Q96DD2	Missense_Mutation	DNP	ENST00000203407.5	37	CCDS2774.1	DNP	30	Broad																																																																																				0.510	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		Missense_Mutation
EEFSEC	60678	broad.mit.edu	37	3	128060192	128060192	+	Silent	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr3:128060192G>T	ENST00000254730.6	+	5	957	c.903G>T	c.(901-903)ggG>ggT	p.G301G	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Silent_p.G246G	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	301					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.G301G(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGGAGCGCGGGTTGGTGTGTG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											90.0	82.0	85.0					3																	128060192		2203	4300	6503	129542882	SO:0001819	synonymous_variant	60678				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.903G>T	3.37:g.128060192G>T			129542882	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1	SNP	44	Broad																																																																																				0.592	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		Silent
ABCF3	55324	broad.mit.edu	37	3	183910418	183910418	+	Silent	SNP	C	C	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr3:183910418C>G	ENST00000429586.2	+	17	1784	c.1599C>G	c.(1597-1599)acC>acG	p.T533T	ABCF3_ENST00000292808.5_Silent_p.T527T|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	533	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T533T(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAGTCTACCATGCTGAAGC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	3											53.0	50.0	51.0					3																	183910418		2203	4300	6503	185393112	SO:0001819	synonymous_variant	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1599C>G	3.37:g.183910418C>G			185393112	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	CCDS3254.1	SNP	21	Broad																																																																																				0.512	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		Silent
THAP9	79725	broad.mit.edu	37	4	83839692	83839692	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:83839692A>T	ENST00000302236.5	+	5	2378	c.2327A>T	c.(2326-2328)gAg>gTg	p.E776V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	776					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.E776V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AATATTTGTGAGCGAGTTGTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	4											63.0	67.0	65.0					4																	83839692		2202	4299	6501	84058716	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2327A>T	4.37:g.83839692A>T	ENSP00000305533:p.Glu776Val		84058716	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	A	9.043	0.990061	0.18966	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.93133	-3.17	3.82	3.82	0.43975	.	0.525224	0.16022	N	0.233280	D	0.93307	0.7867	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	D	0.93011	0.6432	10	0.87932	D	0	-11.1114	11.2867	0.49226	1.0:0.0:0.0:0.0	.	776	Q9H5L6	THAP9_HUMAN	V	776	ENSP00000305533:E776V	ENSP00000305533:E776V	E	+	2	0	THAP9	84058716	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.878000	0.63093	1.959000	0.56917	0.533000	0.62120	GAG		0.343	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		Missense_Mutation
PTPN13	5783	broad.mit.edu	37	4	87731088	87731088	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:87731088C>A	ENST00000411767.2	+	46	7313	c.7250C>A	c.(7249-7251)aCc>aAc	p.T2417N	PTPN13_ENST00000316707.6_Missense_Mutation_p.T2226N|PTPN13_ENST00000511467.1_Missense_Mutation_p.T2422N|PTPN13_ENST00000427191.2_Missense_Mutation_p.T2398N|PTPN13_ENST00000436978.1_Missense_Mutation_p.T2422N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2417	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.T2422N(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CGTTCAGGGACCCTGATTTGC	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											104.0	95.0	97.0					4																	87731088		1931	4145	6076	87950112	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7250C>A	4.37:g.87731088C>A	ENSP00000407249:p.Thr2417Asn		87950112	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981952	0.93044	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.52532	D	0.000061	T	0.55816	0.1944	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64300	-0.6440	10	0.72032	D	0.01	.	19.1221	0.93367	0.0:1.0:0.0:0.0	.	2226;2398;2417;2422	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	2398;2422;2226;2417;2422;2366	ENSP00000408368:T2398N;ENSP00000394794:T2422N;ENSP00000322675:T2226N;ENSP00000407249:T2417N;ENSP00000426626:T2422N	ENSP00000322675:T2226N	T	+	2	0	PTPN13	87950112	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.881000	0.69706	2.510000	0.84645	0.655000	0.94253	ACC		0.433	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			Missense_Mutation
MEPE	56955	broad.mit.edu	37	4	88767088	88767088	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:88767088C>A	ENST00000424957.3	+	4	1141	c.1068C>A	c.(1066-1068)aaC>aaA	p.N356K	MEPE_ENST00000361056.3_Missense_Mutation_p.N356K|MEPE_ENST00000395102.4_Missense_Mutation_p.N387K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.N243K|MEPE_ENST00000560249.1_Missense_Mutation_p.N243K|MEPE_ENST00000497649.2_Missense_Mutation_p.N332K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	356					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.N356K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAGAAGGAAACAGAGTGGATG	0.478																																																1	Substitution - Missense(1)	ovary(1)	4											41.0	41.0	41.0					4																	88767088		2203	4300	6503	88986112	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1068C>A	4.37:g.88767088C>A	ENSP00000416984:p.Asn356Lys		88986112	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112269	0.56398	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.99	3.11	0.35812	.	0.108387	0.41396	D	0.000892	T	0.54062	0.1835	M	0.83953	2.67	0.32396	N	0.552609	D	0.61080	0.989	P	0.54706	0.759	T	0.66388	-0.5936	10	0.87932	D	0	-18.8069	6.1304	0.20201	0.0:0.7728:0.0:0.2272	.	356	Q9NQ76	MEPE_HUMAN	K	356;387;332;243;356	ENSP00000416984:N356K;ENSP00000378534:N387K;ENSP00000422747:N332K;ENSP00000443491:N243K;ENSP00000354341:N356K	ENSP00000354341:N356K	N	+	3	2	MEPE	88986112	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	0.815000	0.27253	1.336000	0.45506	0.655000	0.94253	AAC		0.478	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			Missense_Mutation
FAT4	79633	broad.mit.edu	37	4	126241925	126241925	+	Silent	SNP	T	T	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:126241925T>A	ENST00000394329.3	+	1	4372	c.4359T>A	c.(4357-4359)ggT>ggA	p.G1453G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1453	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1453G(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATTAATGGTCAACTATCCT	0.403																																																2	Substitution - coding silent(2)	ovary(2)	4											137.0	125.0	128.0					4																	126241925		1911	4135	6046	126461375	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4359T>A	4.37:g.126241925T>A			126461375	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3	SNP	58	Broad																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		Silent
TKTL2	84076	broad.mit.edu	37	4	164393547	164393547	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:164393547C>A	ENST00000280605.3	-	1	1500	c.1340G>T	c.(1339-1341)tGt>tTt	p.C447F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	447						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.C447S(2)|p.C447F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAAACAGTACAATTGGGAAT	0.483																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	4											88.0	89.0	89.0					4																	164393547		2203	4300	6503	164612997	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1340G>T	4.37:g.164393547C>A	ENSP00000280605:p.Cys447Phe		164612997	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681642	0.47991	.	.	ENSG00000151005	ENST00000280605	D	0.90844	-2.74	4.05	4.05	0.47172	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	L	0.55743	1.74	0.58432	D	0.999998	D	0.63880	0.993	D	0.70227	0.968	D	0.93740	0.7049	10	0.87932	D	0	-14.7166	14.5096	0.67776	0.0:1.0:0.0:0.0	.	447	Q9H0I9	TKTL2_HUMAN	F	447	ENSP00000280605:C447F	ENSP00000280605:C447F	C	-	2	0	TKTL2	164612997	0.961000	0.32948	0.988000	0.46212	0.466000	0.32739	1.385000	0.34408	2.551000	0.86045	0.650000	0.86243	TGT		0.483	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		Missense_Mutation
SAP30	8819	broad.mit.edu	37	4	174292633	174292633	+	Silent	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:174292633C>A	ENST00000296504.3	+	1	540	c.300C>A	c.(298-300)atC>atA	p.I100I	RP11-798M19.6_ENST00000609900.1_RNA|RP11-798M19.6_ENST00000608794.1_RNA|RP11-798M19.6_ENST00000609153.1_RNA|RP11-798M19.6_ENST00000608892.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa									p.I100I(1)		large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGGTGAAGATCGAGCTGGATA	0.672																																																1	Substitution - coding silent(1)	ovary(1)	4											31.0	30.0	30.0					4																	174292633		2188	4275	6463	174529208	SO:0001819	synonymous_variant	8819			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"""sin3A-associated protein, 30kDa"""			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.300C>A	4.37:g.174292633C>A			174529208		Silent	SNP	ENST00000296504.3	37	CCDS3817.1	SNP	31	Broad																																																																																				0.672	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864		Silent
GLRA3	8001	broad.mit.edu	37	4	175580273	175580273	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr4:175580273C>T	ENST00000274093.3	-	8	1505	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	GLRA3_ENST00000340217.5_Missense_Mutation_p.A335T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	335					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A335T(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTTACAGCTGCATACTCCAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											123.0	115.0	118.0					4																	175580273		2203	4300	6503	175816848	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1003G>A	4.37:g.175580273C>T	ENSP00000274093:p.Ala335Thr		175816848	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	35	5.592571	0.96590	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.86562	-2.14;-2.14	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.72625	0.978;0.939	D	0.93177	0.6571	10	0.87932	D	0	.	19.0501	0.93039	0.0:1.0:0.0:0.0	.	335;335	O75311-2;O75311	.;GLRA3_HUMAN	T	335	ENSP00000274093:A335T;ENSP00000345284:A335T	ENSP00000274093:A335T	A	-	1	0	GLRA3	175816848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.523000	0.85059	0.650000	0.86243	GCA		0.373	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			Missense_Mutation
ICE1	23379	broad.mit.edu	37	5	5460573	5460573	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr5:5460573G>A	ENST00000296564.7	+	13	1348	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		376					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.D376N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAATACACAGATTCCAGCGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	5											28.0	27.0	28.0					5																	5460573		1817	4079	5896	5513573	SO:0001583	missense	23379																														ENST00000296564.7:c.1126G>A	5.37:g.5460573G>A	ENSP00000296564:p.Asp376Asn		5513573	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	g	12.69	2.012116	0.35511	.	.	ENSG00000164151	ENST00000296564	T	0.46063	0.88	4.68	3.8	0.43715	.	1.092670	0.07022	N	0.826867	T	0.28300	0.0699	N	0.19112	0.55	0.24495	N	0.994281	P	0.35107	0.484	B	0.30179	0.112	T	0.17745	-1.0359	10	0.38643	T	0.18	-15.2596	8.8778	0.35356	0.105:0.0:0.895:0.0	.	376	Q9Y2F5	K0947_HUMAN	N	376	ENSP00000296564:D376N	ENSP00000296564:D376N	D	+	1	0	KIAA0947	5513573	1.000000	0.71417	0.549000	0.28204	0.079000	0.17450	3.866000	0.56040	0.959000	0.37980	0.298000	0.19748	GAT		0.318	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			Missense_Mutation
MYO10	4651	broad.mit.edu	37	5	16672879	16672879	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr5:16672879G>A	ENST00000513610.1	-	37	5682	c.5228C>T	c.(5227-5229)gCt>gTt	p.A1743V	MYO10_ENST00000515803.1_Missense_Mutation_p.A1082V|MYO10_ENST00000274203.9_Missense_Mutation_p.A1100V|MYO10_ENST00000427430.2_Missense_Mutation_p.A1100V|MYO10_ENST00000505695.1_Missense_Mutation_p.A1082V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1743	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.A1743V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCAAACAAAGCAAACATGTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											123.0	123.0	123.0					5																	16672879		2070	4190	6260	16725879	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5228C>T	5.37:g.16672879G>A	ENSP00000421280:p.Ala1743Val		16725879	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856810	0.71834	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;T;T;T;T	0.89681	-2.55;2.31;2.31;2.31;2.31	5.54	5.54	0.83059	Band 4.1 domain (1);FERM domain (1);Ras-association (1);	.	.	.	.	D	0.94185	0.8134	M	0.82056	2.57	0.80722	D	1	D;D;P	0.67145	0.986;0.996;0.866	P;P;P	0.60609	0.686;0.877;0.505	D	0.94604	0.7798	9	0.87932	D	0	.	19.4819	0.95013	0.0:0.0:1.0:0.0	.	622;1383;1743	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	V	1743;1082;1100;1082;1100	ENSP00000421280:A1743V;ENSP00000425051:A1082V;ENSP00000274203:A1100V;ENSP00000421170:A1082V;ENSP00000391106:A1100V	ENSP00000274203:A1100V	A	-	2	0	MYO10	16725879	1.000000	0.71417	0.361000	0.25849	0.433000	0.31745	9.869000	0.99810	2.595000	0.87683	0.655000	0.94253	GCT		0.527	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		Missense_Mutation
IL31RA	133396	broad.mit.edu	37	5	55212641	55212641	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr5:55212641A>G	ENST00000447346.2	+	15	2053	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	IL31RA_ENST00000396834.1_Missense_Mutation_p.N644S|IL31RA_ENST00000354961.4_Missense_Mutation_p.N644S|IL31RA_ENST00000490985.1_Missense_Mutation_p.N521S|IL31RA_ENST00000359040.5_Missense_Mutation_p.N663S	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	631					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.N663S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGGAAAACAATTTAGGAGGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											63.0	68.0	66.0					5																	55212641		2203	4300	6503	55248398	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1988A>G	5.37:g.55212641A>G	ENSP00000415900:p.Asn663Ser		55248398	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	9.539	1.112998	0.20795	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	T;T;T;T;T	0.39997	1.25;1.24;1.23;1.05;1.25	5.65	3.25	0.37280	.	0.769548	0.12744	N	0.442804	T	0.24084	0.0583	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.22480	0.004;0.004;0.07	B;B;B	0.18871	0.006;0.006;0.023	T	0.17258	-1.0375	10	0.20519	T	0.43	-13.5449	4.4767	0.11746	0.1815:0.0911:0.0:0.7274	.	663;644;663	Q8NI17-5;Q8NI17-3;Q8NI17-2	.;.;.	S	644;663;663;521;644	ENSP00000380046:N644S;ENSP00000415900:N663S;ENSP00000351935:N663S;ENSP00000427533:N521S;ENSP00000347047:N644S	ENSP00000347047:N644S	N	+	2	0	IL31RA	55248398	0.020000	0.18652	0.073000	0.20177	0.642000	0.38348	0.853000	0.27777	1.063000	0.40649	-0.624000	0.04008	AAT		0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		Missense_Mutation
FCHO2	115548	broad.mit.edu	37	5	72364550	72364550	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr5:72364550G>T	ENST00000430046.2	+	19	1639	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I	FCHO2_ENST00000512348.1_Missense_Mutation_p.S475I|FCHO2_ENST00000341845.6_Missense_Mutation_p.S508I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	508	Ser-rich.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S508I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CGGGCAGAAAGTTCTTCTTCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											99.0	103.0	102.0					5																	72364550		1928	4135	6063	72400306	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1523G>T	5.37:g.72364550G>T	ENSP00000393776:p.Ser508Ile		72400306	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	32	5.111993	0.94339	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.43688	0.95;0.94;3.38	5.97	5.97	0.96955	.	0.088927	0.85682	D	0.000000	T	0.66867	0.2833	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.986;0.928	T	0.66838	-0.5822	10	0.72032	D	0.01	-16.7338	20.4324	0.99085	0.0:0.0:1.0:0.0	.	475;508	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	I	508;508;475	ENSP00000393776:S508I;ENSP00000344034:S508I;ENSP00000427296:S475I	ENSP00000344034:S508I	S	+	2	0	FCHO2	72400306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.833000	0.97629	0.585000	0.79938	AGT		0.423	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		Missense_Mutation
SLCO6A1	133482	broad.mit.edu	37	5	101834369	101834369	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr5:101834369C>A	ENST00000506729.1	-	1	351	c.180G>T	c.(178-180)agG>agT	p.R60S	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R60S|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R60S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R60S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R60S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R60S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AACCGCCGAACCTTATCAAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											154.0	170.0	164.0					5																	101834369		2203	4300	6503	101862268	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.180G>T	5.37:g.101834369C>A	ENSP00000421339:p.Arg60Ser		101862268	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164595	0.21538	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.47177	0.91;0.91;0.92;0.85;0.85	3.41	-2.01	0.07410	.	11.615200	0.00166	N	0.000000	T	0.26774	0.0655	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30439	0.248;0.279;0.16	B;B;B	0.26202	0.067;0.055;0.03	T	0.03034	-1.1080	10	0.23302	T	0.38	.	0.4762	0.00540	0.3301:0.297:0.162:0.2109	.	60;60;60	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	60	ENSP00000421339:R60S;ENSP00000369135:R60S;ENSP00000373671:R60S;ENSP00000421990:R60S;ENSP00000369138:R60S	ENSP00000369135:R60S	R	-	3	2	SLCO6A1	101862268	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.186000	0.09670	-0.492000	0.06687	-0.439000	0.05793	AGG		0.547	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		Missense_Mutation
FCHSD1	89848	broad.mit.edu	37	5	141026288	141026288	+	Splice_Site	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr5:141026288A>G	ENST00000435817.2	-	11	976	c.926T>C	c.(925-927)gTg>gCg	p.V309A	FCHSD1_ENST00000522126.1_Splice_Site_p.V233A|FCHSD1_ENST00000522783.1_Splice_Site_p.V307A|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	309								p.V309A(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGACACACACCTGAATGGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											28.0	30.0	29.0					5																	141026288		2020	4186	6206	141006472	SO:0001630	splice_region_variant	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.925-1T>C	5.37:g.141026288A>G			141006472	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126657	0.56721	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.54071	1.37;0.59;1.13	5.17	5.17	0.71159	.	0.075363	0.51477	D	0.000100	T	0.45975	0.1369	L	0.53249	1.67	0.80722	D	1	P	0.42203	0.773	B	0.35931	0.214	T	0.51434	-0.8706	10	0.51188	T	0.08	-5.8531	12.6675	0.56849	1.0:0.0:0.0:0.0	.	309	Q86WN1	FCSD1_HUMAN	A	309;233;307	ENSP00000399259:V309A;ENSP00000427796:V233A;ENSP00000428677:V307A	ENSP00000399259:V309A	V	-	2	0	FCHSD1	141006472	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.095000	0.57728	2.089000	0.63090	0.379000	0.24179	GTG		0.582	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	Missense_Mutation	Missense_Mutation
TEAD3	7005	broad.mit.edu	37	6	35454350	35454350	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr6:35454350A>C	ENST00000402886.3	-	2	191	c.38T>G	c.(37-39)aTg>aGg	p.M13R	TEAD3_ENST00000338863.7_Missense_Mutation_p.D30E			Q99594	TEAD3_HUMAN	TEA domain family member 3	73					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D46E(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CGCCCTCCGCATCGTTGTCCA	0.682																																																1	Substitution - Missense(1)	ovary(1)	6											37.0	47.0	44.0					6																	35454350		2183	4289	6472	35562328	SO:0001583	missense	7005			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.38T>G	6.37:g.35454350A>C	ENSP00000384577:p.Met13Arg		35562328	O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37		SNP	8	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.18|10.18	1.278001|1.278001	0.23307|0.23307	.|.	.|.	ENSG00000007866|ENSG00000007866	ENST00000338863;ENST00000373905|ENST00000402886	T|T	0.38722|0.55413	1.12|0.52	5.15|5.15	-6.37|-6.37	0.01963|0.01963	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32556|0.32556	0.0833|0.0833	M|M	0.76328|0.76328	2.33|2.33	0.25537|0.25537	N|N	0.987211|0.987211	D|B	0.63046|0.14438	0.992|0.01	D|B	0.76071|0.11329	0.987|0.006	T|T	0.46569|0.46569	-0.9182|-0.9182	10|9	0.46703|0.87932	T|D	0.11|0	-14.0063|-14.0063	15.5284|15.5284	0.75932|0.75932	0.4296:0.0:0.5704:0.0|0.4296:0.0:0.5704:0.0	.|.	46|13	Q7Z6V0|B5MCM0	.|.	E|R	30;46|13	ENSP00000345772:D30E|ENSP00000384577:M13R	ENSP00000345772:D30E|ENSP00000384577:M13R	D|M	-|-	3|2	2|0	TEAD3|TEAD3	35562328|35562328	0.819000|0.819000	0.29175|0.29175	0.545000|0.545000	0.28153|0.28153	0.031000|0.031000	0.12232|0.12232	0.007000|0.007000	0.13174|0.13174	-1.373000|-1.373000	0.02134|0.02134	-0.484000|-0.484000	0.04775|0.04775	GAT|ATG		0.682	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			Missense_Mutation
MOCS1	4337	broad.mit.edu	37	6	39877596	39877596	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr6:39877596T>C	ENST00000340692.5	-	9	1088	c.1085A>G	c.(1084-1086)aAg>aGg	p.K362R	MOCS1_ENST00000373188.2_Missense_Mutation_p.K362R|MOCS1_ENST00000373195.3_Missense_Mutation_p.K275R|MOCS1_ENST00000373186.4_Missense_Mutation_p.K362R|MOCS1_ENST00000373175.4_Missense_Mutation_p.K333R|MOCS1_ENST00000432280.2_Missense_Mutation_p.K333R|MOCS1_ENST00000308559.7_Missense_Mutation_p.K362R|MOCS1_ENST00000425303.2_Missense_Mutation_p.K362R			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	362	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K362R(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCCGCTTCTTCCTGCCCAC	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											1	Substitution - Missense(1)	ovary(1)	6											120.0	107.0	111.0					6																	39877596		2203	4300	6503	39985574	SO:0001583	missense	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1085A>G	6.37:g.39877596T>C	ENSP00000344794:p.Lys362Arg		39985574	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37		SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664741	0.47572	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.98	4.98	0.66077	Molybdenum cofactor synthesis C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	M	0.89840	3.065	0.80722	D	1	P;P;P;P;B	0.50066	0.915;0.474;0.931;0.915;0.325	P;B;P;P;B	0.50825	0.519;0.386;0.651;0.519;0.386	D	0.92744	0.6210	9	.	.	.	-23.5555	14.332	0.66564	0.0:0.0:0.0:1.0	.	362;362;362;362;362	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	R	362;362;333;362;275;362;362;333	ENSP00000362282:K362R;ENSP00000309843:K362R;ENSP00000362270:K333R;ENSP00000362284:K362R;ENSP00000362291:K275R;ENSP00000344794:K362R;ENSP00000416478:K362R;ENSP00000410809:K333R	.	K	-	2	0	MOCS1	39985574	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.912000	0.87465	1.857000	0.53885	0.455000	0.32223	AAG		0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		Missense_Mutation
CD109	135228	broad.mit.edu	37	6	74517956	74517956	+	Silent	SNP	A	A	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr6:74517956A>C	ENST00000287097.5	+	26	3452	c.3340A>C	c.(3340-3342)Aga>Cga	p.R1114R	CD109_ENST00000422508.2_Silent_p.R1037R|CD109_ENST00000437994.2_Silent_p.R1114R			Q6YHK3	CD109_HUMAN	CD109 molecule	1114					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R1114R(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGACTTGGAGAGCAGAACA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	6											94.0	95.0	95.0					6																	74517956		2203	4300	6503	74574677	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3340A>C	6.37:g.74517956A>C			74574677	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1	SNP	11	Broad																																																																																				0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		Silent
CGA	1081	broad.mit.edu	37	6	87795538	87795538	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr6:87795538C>G	ENST00000369582.2	-	4	387	c.287G>C	c.(286-288)gGg>gCg	p.G96A	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	96					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G96A(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTTGAAACCCCCCATTACTGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											62.0	60.0	60.0					6																	87795538		2203	4300	6503	87852257	SO:0001583	missense	1081			V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.287G>C	6.37:g.87795538C>G	ENSP00000358595:p.Gly96Ala		87852257		Missense_Mutation	SNP	ENST00000369582.2	37	CCDS5007.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	2.717	-0.267458	0.05754	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.73	4.81	0.61882	.	0.361561	0.30999	N	0.008442	T	0.07234	0.0183	N	0.11201	0.11	0.27897	N	0.939113	B	0.19935	0.04	B	0.28709	0.093	T	0.19192	-1.0313	9	0.20519	T	0.43	-23.9017	5.1244	0.14876	0.0:0.6506:0.1891:0.1603	.	96	P01215	GLHA_HUMAN	A	96	.	ENSP00000358595:G96A	G	-	2	0	CGA	87852257	1.000000	0.71417	0.927000	0.36925	0.011000	0.07611	1.540000	0.36115	2.699000	0.92147	0.650000	0.86243	GGG		0.348	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		Missense_Mutation
MET	4233	broad.mit.edu	37	7	116339800	116339800	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr7:116339800A>G	ENST00000318493.6	+	2	849	c.662A>G	c.(661-663)gAa>gGa	p.E221G	MET_ENST00000436117.2_Missense_Mutation_p.E221G|MET_ENST00000397752.3_Missense_Mutation_p.E221G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E221G(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGGCTAAAGGAAACGAAAGAT	0.383			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	7											183.0	180.0	181.0					7																	116339800		1897	4117	6014	116127036	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.662A>G	7.37:g.116339800A>G	ENSP00000317272:p.Glu221Gly		116127036	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443404	0.43429	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04654	3.58;3.58;3.58	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100884	0.64402	D	0.000002	T	0.17492	0.0420	L	0.55743	1.74	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.994;0.95;1.0;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D;D;D	0.97110	0.99;0.995;0.987;0.896;0.995;0.995;0.995;0.995;1.0;0.987;0.992;0.999;0.999	T	0.02059	-1.1221	10	0.26408	T	0.33	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	221;221;221;221;221;221;221;221;221;221;221;221;221	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	G	221	ENSP00000380860:E221G;ENSP00000317272:E221G;ENSP00000410980:E221G	ENSP00000317272:E221G	E	+	2	0	MET	116127036	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.668000	0.74457	2.371000	0.80710	0.533000	0.62120	GAA		0.383	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			Missense_Mutation
NPBWR1	2831	broad.mit.edu	37	8	53853435	53853435	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr8:53853435C>T	ENST00000331251.3	+	1	2445	c.968C>T	c.(967-969)aCt>aTt	p.T323I		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	323					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.T323I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CAGCTGATAACTTGCCGCGCG	0.672																																																1	Substitution - Missense(1)	ovary(1)	8											17.0	18.0	18.0					8																	53853435		2195	4285	6480	54015988	SO:0001583	missense	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.968C>T	8.37:g.53853435C>T	ENSP00000330284:p.Thr323Ile		54015988	Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	CCDS6151.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	4.619	0.115109	0.08831	.	.	ENSG00000183729	ENST00000331251	T	0.37411	1.2	4.66	0.152	0.14893	.	432.231000	0.02543	U	0.094863	T	0.22551	0.0544	L	0.27053	0.805	0.20926	N	0.999821	B	0.12630	0.006	B	0.11329	0.006	T	0.08994	-1.0695	10	0.20519	T	0.43	.	0.8193	0.01108	0.3039:0.3601:0.1244:0.2117	.	323	P48145	NPBW1_HUMAN	I	323	ENSP00000330284:T323I	ENSP00000330284:T323I	T	+	2	0	NPBWR1	54015988	0.123000	0.22298	0.007000	0.13788	0.013000	0.08279	1.183000	0.32041	0.159000	0.19401	-0.264000	0.10439	ACT		0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		Missense_Mutation
ASPH	444	broad.mit.edu	37	8	62489351	62489351	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr8:62489351C>G	ENST00000379454.4	-	16	1316	c.1129G>C	c.(1129-1131)Gca>Cca	p.A377P	ASPH_ENST00000541428.1_Missense_Mutation_p.A348P	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	377					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.A377P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCATATCTTGCTCGTGGACTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											177.0	158.0	165.0					8																	62489351		2203	4300	6503	62651905	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1129G>C	8.37:g.62489351C>G	ENSP00000368767:p.Ala377Pro		62651905	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377206	0.61735	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349	T;T;T	0.80033	0.14;0.14;-1.33	4.83	4.83	0.62350	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	D	0.90388	0.4393	10	0.72032	D	0.01	-19.1199	17.8909	0.88871	0.0:1.0:0.0:0.0	.	348;358;377	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	P	358;348;377;130	ENSP00000437864:A348P;ENSP00000368767:A377P;ENSP00000429718:A130P	ENSP00000368767:A377P	A	-	1	0	ASPH	62651905	1.000000	0.71417	0.843000	0.33291	0.925000	0.55904	3.810000	0.55613	2.390000	0.81377	0.561000	0.74099	GCA		0.363	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		Missense_Mutation
CYP7B1	9420	broad.mit.edu	37	8	65509443	65509443	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr8:65509443G>A	ENST00000310193.3	-	6	1450	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	426					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.T426I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GAAAAAGGTGGTTTTCTTCTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											48.0	48.0	48.0					8																	65509443		2203	4300	6503	65671997	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1277C>T	8.37:g.65509443G>A	ENSP00000310721:p.Thr426Ile		65671997	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012885	0.75161	.	.	ENSG00000172817	ENST00000310193	D	0.84589	-1.87	5.55	3.71	0.42584	.	0.293664	0.36268	N	0.002697	D	0.87172	0.6111	L	0.57536	1.79	0.35531	D	0.802239	D	0.61697	0.99	P	0.60286	0.872	D	0.87975	0.2739	10	0.59425	D	0.04	-17.0635	6.367	0.21461	0.0701:0.1331:0.6585:0.1383	.	426	O75881	CP7B1_HUMAN	I	426	ENSP00000310721:T426I	ENSP00000310721:T426I	T	-	2	0	CYP7B1	65671997	0.999000	0.42202	0.984000	0.44739	0.997000	0.91878	2.826000	0.48104	0.646000	0.30693	0.563000	0.77884	ACC		0.338	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			Missense_Mutation
C9orf72	203228	broad.mit.edu	37	9	27548308	27548308	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr9:27548308C>G	ENST00000380003.3	-	11	1435	c.1372G>C	c.(1372-1374)Ggc>Cgc	p.G458R	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	458					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.G458R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GAGTGTAGGCCTGGTTTAATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											111.0	111.0	111.0					9																	27548308		2203	4300	6503	27538308	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1372G>C	9.37:g.27548308C>G	ENSP00000369339:p.Gly458Arg		27538308	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854407	0.91355	.	.	ENSG00000147894	ENST00000380003	T	0.53423	0.62	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52793	-0.8528	9	.	.	.	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	458	Q96LT7	CI072_HUMAN	R	458	ENSP00000369339:G458R	.	G	-	1	0	C9orf72	27538308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.778000	0.68940	2.792000	0.96026	0.555000	0.69702	GGC		0.373	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		Missense_Mutation
UNC13B	10497	broad.mit.edu	37	9	35310543	35310543	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr9:35310543C>T	ENST00000378495.3	+	9	1063	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.H281Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.H293Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	281					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.H281Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCAGTATCACGAACAAGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	9											129.0	126.0	127.0					9																	35310543		2203	4300	6503	35300543	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.841C>T	9.37:g.35310543C>T	ENSP00000367756:p.His281Tyr		35300543	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404728	0.62288	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.83992	-1.66;-1.59;-1.79	5.81	5.81	0.92471	.	1.666540	0.04390	U	0.362357	T	0.79435	0.4445	N	0.14661	0.345	0.40081	D	0.976138	B;B;B	0.19445	0.031;0.036;0.021	B;B;B	0.25140	0.016;0.058;0.032	T	0.50533	-0.8817	10	0.59425	D	0.04	-1.0788	19.0707	0.93134	0.0:1.0:0.0:0.0	.	281;281;281	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Y	293;281;281	ENSP00000380006:H293Y;ENSP00000367756:H281Y;ENSP00000367757:H281Y	ENSP00000367756:H281Y	H	+	1	0	UNC13B	35300543	1.000000	0.71417	0.945000	0.38365	0.955000	0.61496	5.126000	0.64721	2.746000	0.94184	0.655000	0.94253	CAC		0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		Missense_Mutation
TBC1D2	55357	broad.mit.edu	37	9	101017822	101017822	+	Start_Codon_SNP	SNP	A	A	G			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr9:101017822A>G	ENST00000375064.1	-	1	40	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Start_Codon_SNP_p.M1T	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	1	Interaction with CADH1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.M1T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCGCCCTCCATCGCTGCCAG	0.682																																																1	Substitution - Missense(1)	ovary(1)	9											6.0	8.0	7.0					9																	101017822		2175	4257	6432	100057643	SO:0001582	initiator_codon_variant	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2T>C	9.37:g.101017822A>G	ENSP00000364205:p.Met1Thr		100057643	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180245	0.57800	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.08458	3.38;3.09	5.78	2.21	0.28008	.	0.125828	0.38058	N	0.001837	T	0.05640	0.0148	.	.	.	0.80722	D	1	B;P	0.34587	0.329;0.458	B;B	0.27796	0.038;0.083	T	0.33954	-0.9848	9	0.87932	D	0	.	3.8382	0.08903	0.6871:0.0:0.1428:0.1701	.	1;1	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	T	1	ENSP00000364205:M1T;ENSP00000364207:M1T	ENSP00000364205:M1T	M	-	2	0	TBC1D2	100057643	1.000000	0.71417	0.961000	0.40146	0.205000	0.24178	2.012000	0.40932	0.994000	0.38892	0.459000	0.35465	ATG		0.682	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	Missense_Mutation	Missense_Mutation
SURF6	6838	broad.mit.edu	37	9	136199561	136199561	+	Silent	SNP	C	C	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chr9:136199561C>T	ENST00000372022.4	-	4	694	c.429G>A	c.(427-429)gaG>gaA	p.E143E	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	143					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E143E(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCCGCCTTTTCTCCAAGGCGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											68.0	77.0	74.0					9																	136199561		2203	4300	6503	135189382	SO:0001819	synonymous_variant	6838			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.429G>A	9.37:g.136199561C>T			135189382	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	CCDS6962.1	SNP	32	Broad																																																																																				0.627	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		Silent
MAGED1	9500	broad.mit.edu	37	X	51639606	51639606	+	Silent	SNP	G	G	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:51639606G>A	ENST00000375722.1	+	4	1107	c.855G>A	c.(853-855)caG>caA	p.Q285Q	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.Q285Q|MAGED1_ENST00000375695.2_Silent_p.Q341Q|MAGED1_ENST00000375772.3_Silent_p.Q285Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	285	Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.Q341Q(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGACCACTCAGAACCCACCTG	0.597										Multiple Myeloma(10;0.10)																																						1	Substitution - coding silent(1)	ovary(1)	X											44.0	40.0	41.0					X																	51639606		2203	4300	6503	51656346	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.855G>A	X.37:g.51639606G>A			51656346	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1	SNP	33	Broad																																																																																				0.597	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		Silent
HUWE1	10075	broad.mit.edu	37	X	53560356	53560356	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:53560356G>T	ENST00000342160.3	-	83	13496	c.13039C>A	c.(13039-13041)Ctg>Atg	p.L4347M	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4347M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4347	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGGCAGGCAGATCCAGCTGA	0.512																																																0			X											50.0	46.0	48.0					X																	53560356		2203	4300	6503	53577081	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13039C>A	X.37:g.53560356G>T	ENSP00000340648:p.Leu4347Met		53577081	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	SNP	33	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.870|8.870	0.949112|0.949112	0.18356|0.18356	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.76060|.	-0.99;-0.99|.	5.1|5.1	3.33|3.33	0.38152|0.38152	HECT (4);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.84047|0.84047	0.5386|0.5386	H|H	0.95679|0.95679	3.705|3.705	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.67145|.	0.996;0.995|.	D;D|.	0.79108|.	0.992;0.987|.	D|D	0.85448|0.85448	0.1159|0.1159	10|5	0.87932|.	D|.	0|.	.|.	10.2136|10.2136	0.43156|0.43156	0.1712:0.0:0.8288:0.0|0.1712:0.0:0.8288:0.0	.|.	4347;4331|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	M|Y	4347|3380;1169	ENSP00000340648:L4347M;ENSP00000262854:L4347M|.	ENSP00000262854:L4347M|.	L|S	-|-	1|2	2|0	HUWE1|HUWE1	53577081|53577081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.975000|5.975000	0.70475|0.70475	0.489000|0.489000	0.27749|0.27749	0.513000|0.513000	0.50165|0.50165	CTG|TCT		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		Missense_Mutation
PHF8	23133	broad.mit.edu	37	X	54020323	54020323	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:54020323T>C	ENST00000357988.5	-	13	1803	c.1445A>G	c.(1444-1446)cAg>cGg	p.Q482R	PHF8_ENST00000322659.8_Missense_Mutation_p.Q446R|PHF8_ENST00000338154.6_Missense_Mutation_p.Q446R|PHF8_ENST00000338946.6_Intron	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	482					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.Q446R(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCCAACGTTCTGTTGGAAGAT	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											50.0	51.0	51.0					X																	54020323		2203	4298	6501	54037048	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1445A>G	X.37:g.54020323T>C	ENSP00000350676:p.Gln482Arg		54037048	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	SNP	55	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.05|14.05	2.419692|2.419692	0.42918|0.42918	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000322659|ENST00000396282	T;T;T|.	0.39229|.	1.09;1.09;1.09|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.150255|.	0.45867|.	D|.	0.000330|.	T|T	0.50548|0.50548	0.1622|0.1622	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;B|.	0.45283|.	0.855;0.011|.	B;B|.	0.39258|.	0.295;0.008|.	T|T	0.48736|0.48736	-0.9009|-0.9009	10|5	0.15499|.	T|.	0.54|.	-7.8793|-7.8793	14.4309|14.4309	0.67249|0.67249	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	446;482|.	Q9UPP1-2;Q9UPP1|.	.;PHF8_HUMAN|.	R|G	482;446;446|350	ENSP00000350676:Q482R;ENSP00000338868:Q446R;ENSP00000319473:Q446R|.	ENSP00000319473:Q446R|.	Q|R	-|-	2|1	0|2	PHF8|PHF8	54037048|54037048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.426000|5.426000	0.66476|0.66476	2.054000|2.054000	0.61138|0.61138	0.481000|0.481000	0.45027|0.45027	CAG|AGA		0.512	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		Missense_Mutation
FAM199X	139231	broad.mit.edu	37	X	103434385	103434385	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:103434385T>C	ENST00000493442.1	+	6	1259	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	365								p.F365L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CAGTGGGCTCTTCCTTAACGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											128.0	110.0	116.0					X																	103434385		2203	4300	6503	103321041	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.1093T>C	X.37:g.103434385T>C	ENSP00000417581:p.Phe365Leu		103321041	Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	CCDS35364.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512847	0.85389	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.64997	1.995	0.80722	D	1	D;P	0.58268	0.982;0.954	D;D	0.68943	0.961;0.916	T	0.75031	-0.3461	8	.	.	.	-7.5784	13.353	0.60613	0.0:0.0:0.0:1.0	.	322;365	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	L	365	.	.	F	+	1	0	FAM199X	103321041	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.993000	0.88291	1.815000	0.52974	0.481000	0.45027	TTC		0.498	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		Missense_Mutation
KIAA1210	57481	broad.mit.edu	37	X	118228015	118228015	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:118228015T>A	ENST00000402510.2	-	9	1310	c.1311A>T	c.(1309-1311)ttA>ttT	p.L437F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	437										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGGATCCCTCTAAAATACCCT	0.478																																																0			X											86.0	77.0	80.0					X																	118228015		1869	4096	5965	118112043	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1311A>T	X.37:g.118228015T>A	ENSP00000384670:p.Leu437Phe		118112043	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	SNP	53	Broad	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481139	0.12581	.	.	ENSG00000250423	ENST00000402510	T	0.10668	2.85	3.31	-2.97	0.05530	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.20955	0.032	T	0.39354	-0.9618	9	0.36615	T	0.2	.	1.3916	0.02252	0.1666:0.1169:0.3653:0.3511	.	437	Q9ULL0	K1210_HUMAN	F	437	ENSP00000384670:L437F	ENSP00000384670:L437F	L	-	3	2	RP13-347D8.6	118112043	0.036000	0.19791	0.000000	0.03702	0.019000	0.09904	0.144000	0.16135	-0.884000	0.03976	0.478000	0.44815	TTA		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		Missense_Mutation
SPANXN4	441525	broad.mit.edu	37	X	142122003	142122003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:142122003G>T	ENST00000446864.1	+	2	368	c.271G>T	c.(271-273)Gga>Tga	p.G91*	SPANXN4_ENST00000370504.3_Nonsense_Mutation_p.G90*	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	91								p.G91*(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					CATATCTGCAGGATCTCCACA	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	X											40.0	40.0	40.0					X																	142122003		2085	4160	6245	141949669	SO:0001587	stop_gained	441525			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.271G>T	X.37:g.142122003G>T	ENSP00000405210:p.Gly91*		141949669	Q0ZNK6|Q5W0S6	Nonsense_Mutation	SNP	ENST00000446864.1	37	CCDS48178.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	8.394	0.840406	0.16891	.	.	ENSG00000189326	ENST00000446864;ENST00000370504	.	.	.	1.35	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.6094	0.17396	0.0:0.0:1.0:0.0	.	.	.	.	X	91;90	.	ENSP00000359535:G90X	G	+	1	0	SPANXN4	141949669	0.247000	0.23920	0.001000	0.08648	0.048000	0.14542	1.128000	0.31369	0.950000	0.37743	0.418000	0.28097	GGA		0.413	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377539.1	NM_001009613		Nonsense_Mutation
TREX2	11219	broad.mit.edu	37	X	152710775	152710775	+	Silent	SNP	G	G	T			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2044-01	TCGA-09-2044-10	g.chrX:152710775G>T	ENST00000334497.2	-	11	1384	c.243C>A	c.(241-243)tcC>tcA	p.S81S	TREX2_ENST00000414588.1_Silent_p.S80S|TREX2_ENST00000370232.1_Silent_p.S81S|TREX2_ENST00000330912.2_Silent_p.S38S|TREX2_ENST00000402951.1_Silent_p.S81S|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000370231.2_Silent_p.S38S|TREX2_ENST00000338525.2_Silent_p.S38S|TREX2_ENST00000393862.2_Silent_p.S38S			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	81					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)	p.S38S(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGGGAGGAGCGGTGGA	0.652								Editing and processing nucleases																																								1	Substitution - coding silent(1)	ovary(1)	X											42.0	43.0	43.0					X																	152710775		2202	4298	6500	152363969	SO:0001819	synonymous_variant	11219			AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.243C>A	X.37:g.152710775G>T			152363969	Q45F08|Q9UN77	Silent	SNP	ENST00000334497.2	37		SNP	35	Broad																																																																																				0.652	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		Silent
HMBS	3145	broad.mit.edu	37	11	118958941	118958967	+	Splice_Site	DEL	GTGACCTGGGGACTTTTTCTGCAGGAA	GTGACCTGGGGACTTTTTCTGCAGGAA	-	rs376888760|rs369827610		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr11:118958941_118958967delGTGACCTGGGGACTTTTTCTGCAGGAA	ENST00000278715.3	+	2	184_187	c.33_36delGTGACCTGGGGACTTTTTCTGCAGGAA	c.(31-36)gcgtga>gc	p.A*11del	HMBS_ENST00000537841.1_5'UTR|HMBS_ENST00000442944.2_5'UTR|HMBS_ENST00000542729.1_5'UTR|HMBS_ENST00000544387.1_Splice_Site_p.A*11del|HMBS_ENST00000543090.1_Intron|HMBS_ENST00000392841.1_5'UTR	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	11					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AGAGGGGACTGTGACCTGGGGACTTTTTCTGCAGGAAGAAAACAGCC	0.533																																																1	Unknown(1)	ovary(1)	11	GRCh37	CS024012|CS024013	HMBS	S																																				118464177	SO:0001630	splice_region_variant	3145			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.34-1GTGACCTGGGGACTTTTTCTGCAGGAA>-	11.37:g.118958941_118958967delGTGACCTGGGGACTTTTTCTGCAGGAA			118464151	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Splice_Site_Del	DEL	ENST00000278715.3	37	CCDS8409.1	DEL	48	Broad																																																																																				0.533	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	In_Frame_Del	Splice_Site_Del
RIMBP2	23504	broad.mit.edu	37	12	130897146	130897174	+	Splice_Site	DEL	ATAGGGGTTTGCGCTTACCTATTTTCTCC	ATAGGGGTTTGCGCTTACCTATTTTCTCC	-	rs12315966|rs549402406|rs184116412	byFrequency	TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr12:130897146_130897174delATAGGGGTTTGCGCTTACCTATTTTCTCC	ENST00000261655.4	-	15	2974_2985	c.2811_2822delGGAGAAAATAGGTAAGCGCAAACCCCTAT	c.(2809-2823)gtggagaaaataggt>gtt	p.EKIG938fs		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	938					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E938D(1)|p.?(1)|p.I940T(1)		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)		GGAAGGTCGAATAGGGGTTTGCGCTTACCTATTTTCTCCACAGGTGTAT	0.467																																																3	Substitution - Missense(2)|Unknown(1)	ovary(2)|large_intestine(1)	12																																								129463127	SO:0001630	splice_region_variant	23504			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.2821+1GGAGAAAATAGGTAAGCGCAAACCCCTAT>-	12.37:g.130897146_130897174delATAGGGGTTTGCGCTTACCTATTTTCTCC			129463099	Q96ID2	Splice_Site_Del	DEL	ENST00000261655.4	37	CCDS31925.1	DEL	4	Broad																																																																																				0.467	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	Frame_Shift_Del	Splice_Site_Del
PNP	4860	broad.mit.edu	37	14	20940544	20940545	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:20940544_20940545delTC	ENST00000361505.5	+	2	235_236	c.89_90delTC	c.(88-90)atcfs	p.I30fs	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.I30fs*10(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						GTTGCAATAATCTGTGGTTCTG	0.441																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								20010385	SO:0001589	frameshift_variant	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.89_90delTC	14.37:g.20940544_20940545delTC	ENSP00000354532:p.Ile30fs		20010384		Frame_Shift_Del	DEL	ENST00000361505.5	37	CCDS9552.1	DEL	50	Broad																																																																																				0.441	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		Frame_Shift_Del
YLPM1	56252	broad.mit.edu	37	14	75265245	75265248	+	Frame_Shift_Del	DEL	GGTT	GGTT	-			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:75265245_75265248delGGTT	ENST00000325680.7	+	5	3369_3372	c.3245_3248delGGTT	c.(3244-3249)gggttgfs	p.GL1082fs	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.GL887fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	887	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.L888fs*1(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGGGACAGAGGGTTGGTGAGGCCT	0.564																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								74335001	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3245_3248delGGTT	14.37:g.75265245_75265248delGGTT	ENSP00000324463:p.Gly1082fs		74334998	P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000325680.7	37	CCDS45135.1	DEL	43	Broad																																																																																				0.564	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		Frame_Shift_Del
TDP1	55775	broad.mit.edu	37	14	90455304	90455310	+	Frame_Shift_Del	DEL	GTCAGTT	GTCAGTT	-			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:90455304_90455310delGTCAGTT	ENST00000335725.4	+	11	1437_1443	c.1187_1193delGTCAGTT	c.(1186-1194)ggtcagtttfs	p.GQF396fs	TDP1_ENST00000393454.2_Frame_Shift_Del_p.GQF396fs|TDP1_ENST00000555880.1_Frame_Shift_Del_p.GQF396fs|TDP1_ENST00000393452.3_Frame_Shift_Del_p.GQF396fs|TDP1_ENST00000357382.3_Frame_Shift_Del_p.GQF157fs	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	396					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.G396fs*24(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGTCGTAGGTCAGTTTTCAAGCGTT	0.454								Repair of DNA-protein crosslinks																																								1	Deletion - Frameshift(1)	ovary(1)	14																																								89525063	SO:0001589	frameshift_variant	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1187_1193delGTCAGTT	14.37:g.90455304_90455310delGTCAGTT	ENSP00000337353:p.Gly396fs		89525057	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Frame_Shift_Del	DEL	ENST00000335725.4	37	CCDS9888.1	DEL	44	Broad																																																																																				0.454	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		Frame_Shift_Del
ATG2B	55102	broad.mit.edu	37	14	96788593	96788594	+	Splice_Site	INS	-	-	AA			TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr14:96788593_96788594insAA	ENST00000359933.4	-	18	3630		c.e18-2		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.?(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATCACCATCTAAAACATAATA	0.347																																																1	Unknown(1)	ovary(1)	14																																								95858347	SO:0001630	splice_region_variant	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2737-2->TT	14.37:g.96788596_96788597dupAA			95858346	Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site_Ins	INS	ENST00000359933.4	37	CCDS9944.2	INS	53	Broad																																																																																				0.347	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	Splice_Site_Ins
IL21R	50615	broad.mit.edu	37	16	27448978	27449003	+	Frame_Shift_Del	DEL	GAGTGTGGCAGCTTTCTCCTGGCTGA	GAGTGTGGCAGCTTTCTCCTGGCTGA	-	rs201430379		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr16:27448978_27449003delGAGTGTGGCAGCTTTCTCCTGGCTGA	ENST00000337929.3	+	4	795_820	c.322_347delGAGTGTGGCAGCTTTCTCCTGGCTGA	c.(322-348)gagtgtggcagctttctcctggctgagfs	p.ECGSFLLAE108fs	IL21R_ENST00000395754.4_Frame_Shift_Del_p.ECGSFLLAE108fs|IL21R_ENST00000395755.1_Frame_Shift_Del_p.ECGSFLLAE108fs|IL21R_ENST00000564089.1_Frame_Shift_Del_p.ECGSFLLAE108fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	108	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTACTCCCAGGAGTGTGGCAGCTTTCTCCTGGCTGAGAGCAGTGAG	0.566			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16																																								27356504	SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.322_347delGAGTGTGGCAGCTTTCTCCTGGCTGA	16.37:g.27448978_27449003delGAGTGTGGCAGCTTTCTCCTGGCTGA	ENSP00000338010:p.Glu108fs		27356479	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	37	CCDS10630.1	DEL	41	Broad																																																																																				0.566	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		Frame_Shift_Del
TP53	7157	broad.mit.edu	37	17	7578266	7578290	+	Splice_Site	DEL	TAAGATGCTGAGGAGGGGCCAGACC	TAAGATGCTGAGGAGGGGCCAGACC	-	rs587778718|rs121912665|rs55764374|rs370216745|rs587780071		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr17:7578266_7578290delTAAGATGCTGAGGAGGGGCCAGACC	ENST00000269305.4	-	6	749_772	c.560_583delGGTCTGGCCCCTCCTCAGCATCTTA	c.(559-585)gggtctggcccctcctcagcatcttat>gat	p.GSGPSSASY187fs	TP53_ENST00000359597.4_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000420246.2_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000413465.2_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000455263.2_Splice_Site_p.GSGPSSASY187fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	187	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.H193R(80)|p.L194R(47)|p.?(46)|p.H193L(42)|p.H193Y(29)|p.P190L(21)|p.I195F(20)|p.H193P(18)|p.L194F(17)|p.H193D(13)|p.P190fs*57(8)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.G187D(7)|p.P191del(7)|p.I195fs*52(6)|p.P190del(6)|p.Q99*(6)|p.Q60*(6)|p.P190S(6)|p.Q192R(5)|p.L62R(5)|p.L101R(5)|p.P191delP(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.A189V(4)|p.L194L(4)|p.I195fs*14(4)|p.H193N(4)|p.P190T(4)|p.H193fs*16(3)|p.P191fs*56(3)|p.G187V(3)|p.P191_E198>Q(3)|p.A189T(3)|p.Q192H(3)|p.P191L(2)|p.P191fs*53(2)|p.G187fs*16(2)|p.A189P(2)|p.P59delP(2)|p.H61P(2)|p.H100P(2)|p.H61D(2)|p.H100D(2)|p.P190A(2)|p.P190F(2)|p.A189G(2)|p.A189A(2)|p.L188fs*21(2)|p.L194fs*15(2)|p.P191R(2)|p.P191S(2)|p.P98delP(2)|p.H193H(2)|p.Q192Q(2)|p.P190R(2)|p.G187_L188delGL(1)|p.P59_E66>Q(1)|p.L188V(1)|p.P191fs*57(1)|p.I102F(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.G187fs*64(1)|p.L188_P191del(1)|p.Q192fs*30(1)|p.P97fs*57(1)|p.?fs(1)|p.G187G(1)|p.I102fs*14(1)|p.I195fs*50(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192fs*16(1)|p.I195L(1)|p.P58fs*>33(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P191fs*15(1)|p.P191fs*18(1)|p.L188fs*19(1)|p.I63fs*14(1)|p.I195_G199delIRVEG(1)|p.L62H(1)|p.A189fs*53(1)|p.A189S(1)|p.A189fs*58(1)|p.A189D(1)|p.G187fs*22(1)|p.A189_Q192>E(1)|p.L194V(1)|p.L194I(1)|p.I102fs*52(1)|p.I195fs*12(1)|p.P191H(1)|p.L194fs*14(1)|p.P191P(1)|p.L101H(1)|p.P191T(1)|p.A189_P190>X(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.I63F(1)|p.I63fs*>28(1)|p.Q192fs*56(1)|p.P190H(1)|p.Q192del(1)|p.P190P(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAAT	0.56		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	668	Substitution - Missense(409)|Substitution - Nonsense(95)|Unknown(45)|Deletion - Frameshift(35)|Deletion - In frame(32)|Insertion - Frameshift(20)|Substitution - coding silent(13)|Whole gene deletion(8)|Complex - deletion inframe(8)|Complex - frameshift(2)|Complex - insertion inframe(1)	lung(95)|upper_aerodigestive_tract(83)|breast(80)|large_intestine(71)|ovary(64)|oesophagus(48)|haematopoietic_and_lymphoid_tissue(46)|urinary_tract(30)|liver(28)|biliary_tract(23)|stomach(22)|skin(21)|central_nervous_system(15)|endometrium(13)|kidney(7)|bone(5)|soft_tissue(4)|prostate(4)|pancreas(3)|eye(2)|cervix(1)|genital_tract(1)|adrenal_gland(1)|salivary_gland(1)	17	GRCh37	CD043957|CD972478|CM031755|CM083194|CM951225|CS011574|CS083991	TP53	D|M|S	rs121912665																																			7519015	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-1GGTCTGGCCCCTCCTCAGCATCTTA>-	17.37:g.7578266_7578290delTAAGATGCTGAGGAGGGGCCAGACC			7518991	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site_Del	DEL	ENST00000269305.4	37	CCDS11118.1	DEL	49	Broad																																																																																				0.560	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Frame_Shift_Del	Splice_Site_Del
TSC1	7248	broad.mit.edu	37	9	135779074	135779084	+	Frame_Shift_Del	DEL	GATCACCTTGC	GATCACCTTGC	-	rs397514772|rs118203652		TCGA-09-2044-01	TCGA-09-2044-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2044-01	TCGA-09-2044-10	g.chr9:135779074_135779084delGATCACCTTGC	ENST00000298552.3	-	17	2383_2393	c.2162_2172delGCAAGGTGATC	c.(2161-2172)cgcaaggtgatcfs	p.RKVI721fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.RKVI670fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.RKVI721fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	721					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R721fs*9(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGCTGCTTTGATCACCTTGCGGAGGAGCCG	0.536			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	2	Unknown(1)|Deletion - Frameshift(1)	ovary(1)|bone(1)	9																																								134768905	SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2162_2172delGCAAGGTGATC	9.37:g.135779074_135779084delGATCACCTTGC	ENSP00000298552:p.Arg721fs		134768895	B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1	DEL	45	Broad																																																																																				0.536	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			Frame_Shift_Del
