#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
C1orf158	93190	broad.mit.edu	37	1	12819361	12819361	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:12819361G>C	ENST00000288048.5	+	3	560	c.344G>C	c.(343-345)cGc>cCc	p.R115P	C1orf158_ENST00000376210.3_Missense_Mutation_p.R77P	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	115								p.R115P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCACTCCGCACTTGGAAT	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											113.0	116.0	115.0					1																	12819361		2203	4300	6503	12741948	SO:0001583	missense	93190			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.344G>C	1.37:g.12819361G>C	ENSP00000288048:p.Arg115Pro		12741948	Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	CCDS147.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	.	16.21	3.058780	0.55325	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.73047	-0.52;-0.71	5.69	4.77	0.60923	.	0.057423	0.64402	D	0.000001	D	0.82444	0.5038	M	0.79475	2.455	0.23107	N	0.998286	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.979	T	0.74269	-0.3720	10	0.87932	D	0	-21.3366	11.0859	0.48086	0.0878:0.0:0.9122:0.0	.	115;115	B4DQE0;Q8N1D5	.;CA158_HUMAN	P	115;77	ENSP00000288048:R115P;ENSP00000365383:R77P	ENSP00000288048:R115P	R	+	2	0	C1orf158	12741948	0.717000	0.27966	0.590000	0.28732	0.595000	0.36748	3.224000	0.51238	2.684000	0.91462	0.655000	0.94253	CGC		0.537	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		Missense_Mutation
TMEM53	79639	broad.mit.edu	37	1	45120665	45120665	+	Missense_Mutation	SNP	G	G	T	rs371389325		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:45120665G>T	ENST00000372237.3	-	3	563	c.400C>A	c.(400-402)Cgc>Agc	p.R134S	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.R134S|TMEM53_ENST00000372235.3_Missense_Mutation_p.R104S	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	134						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R134S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACACGCAGGCGGCAGAAGCGA	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											39.0	40.0	40.0					1																	45120665		2203	4300	6503	44893252	SO:0001583	missense	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.400C>A	1.37:g.45120665G>T	ENSP00000361311:p.Arg134Ser		44893252	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	CCDS511.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532321	0.27387	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	4.76	0.60689	.	0.326909	0.35838	N	0.002942	T	0.14227	0.0344	N	0.03608	-0.345	0.09310	N	0.999995	B	0.10296	0.003	B	0.11329	0.006	T	0.26360	-1.0105	9	0.08381	T	0.77	.	8.5795	0.33619	0.0745:0.0:0.6745:0.2511	.	134	Q6P2H8	TMM53_HUMAN	S	134;134;104;103	.	ENSP00000361309:R104S	R	-	1	0	TMEM53	44893252	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	2.163000	0.42377	1.411000	0.46957	0.563000	0.77884	CGC		0.647	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		Missense_Mutation
DNASE2B	58511	broad.mit.edu	37	1	84864267	84864267	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:84864267C>A	ENST00000370665.3	+	1	53	c.20C>A	c.(19-21)gCa>gAa	p.A7E		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	7					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.A7E(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AAAATGATGGCAAGACTGCTA	0.478																																					Pancreas(54;788 1175 11852 16034 30034)											1	Substitution - Missense(1)	ovary(1)	1											193.0	201.0	199.0					1																	84864267		2062	4212	6274	84636855	SO:0001583	missense	58511			AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.20C>A	1.37:g.84864267C>A	ENSP00000359699:p.Ala7Glu		84636855	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	CCDS44167.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	8.713	0.912454	0.17907	.	.	ENSG00000137976	ENST00000370665	T	0.11385	2.78	5.23	3.3	0.37823	.	0.604283	0.17048	N	0.189058	T	0.04452	0.0122	L	0.54323	1.7	0.23550	N	0.997439	P	0.48911	0.917	B	0.41299	0.353	T	0.23904	-1.0175	10	0.87932	D	0	-0.0238	7.0029	0.24820	0.0:0.785:0.0:0.215	.	7	Q8WZ79	DNS2B_HUMAN	E	7	ENSP00000359699:A7E	ENSP00000359699:A7E	A	+	2	0	DNASE2B	84636855	0.000000	0.05858	0.091000	0.20842	0.034000	0.12701	0.221000	0.17680	0.838000	0.34948	0.655000	0.94253	GCA		0.478	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		Missense_Mutation
NTNG1	22854	broad.mit.edu	37	1	107979317	107979317	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:107979317A>C	ENST00000370068.1	+	7	2132	c.1286A>C	c.(1285-1287)cAt>cCt	p.H429P	NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.H395P|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H429P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H429P			Q9Y2I2	NTNG1_HUMAN	netrin G1	429	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGCTCAATCCATGATCGTTGT	0.478																																																0			1											163.0	139.0	146.0					1																	107979317		1568	3582	5150	107780840	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1286A>C	1.37:g.107979317A>C	ENSP00000359085:p.His429Pro		107780840	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486335	0.26686	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	6.17	6.17	0.99709	EGF-like, laminin (3);	0.000000	0.64402	D	0.000006	T	0.38772	0.1053	L	0.49640	1.575	0.80722	D	1	P;P	0.43938	0.68;0.822	B;B	0.41374	0.284;0.355	T	0.34625	-0.9821	10	0.29301	T	0.29	.	11.794	0.52088	0.9326:0.0:0.0674:0.0	.	395;429	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	P	429;429;395;232;176;429	ENSP00000359090:H429P;ENSP00000440561:H429P;ENSP00000359078:H395P;ENSP00000359085:H429P	ENSP00000359078:H395P	H	+	2	0	NTNG1	107780840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.821000	0.39041	2.371000	0.80710	0.533000	0.62120	CAT		0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		Missense_Mutation
LCE5A	254910	broad.mit.edu	37	1	152484108	152484108	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:152484108C>T	ENST00000334269.2	+	2	274	c.98C>T	c.(97-99)cCc>cTc	p.P33L	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	33	Cys-rich.				keratinization (GO:0031424)			p.P33L(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccaagtgtcccccaaAATGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											97.0	88.0	91.0					1																	152484108		2203	4300	6503	150750732	SO:0001583	missense	254910			BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.98C>T	1.37:g.152484108C>T	ENSP00000333952:p.Pro33Leu		150750732		Missense_Mutation	SNP	ENST00000334269.2	37	CCDS1011.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	2.837	-0.241304	0.05906	.	.	ENSG00000186207	ENST00000334269	T	0.12984	2.63	4.17	3.23	0.37069	.	.	.	.	.	T	0.13157	0.0319	M	0.88906	2.99	0.09310	N	1	P	0.46784	0.884	P	0.45538	0.484	T	0.07443	-1.0772	9	0.38643	T	0.18	-2.1669	9.8973	0.41327	0.0:0.792:0.208:0.0	.	33	Q5TCM9	LCE5A_HUMAN	L	33	ENSP00000333952:P33L	ENSP00000333952:P33L	P	+	2	0	LCE5A	150750732	0.009000	0.17119	0.020000	0.16555	0.221000	0.24807	1.257000	0.32932	1.055000	0.40461	0.404000	0.27445	CCC		0.607	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		Missense_Mutation
GON4L	54856	broad.mit.edu	37	1	155791321	155791321	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:155791321G>C	ENST00000368331.1	-	5	955	c.907C>G	c.(907-909)Cac>Gac	p.H303D	GON4L_ENST00000437809.1_Missense_Mutation_p.H303D|GON4L_ENST00000271883.5_Missense_Mutation_p.H303D|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.H303D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	303					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H303D(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTACCACGTGTTCATTTGTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											213.0	170.0	184.0					1																	155791321		2203	4300	6503	154057945	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.907C>G	1.37:g.155791321G>C	ENSP00000357315:p.His303Asp		154057945	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968177	0.74131	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14640	2.67;2.68;2.67;2.49	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.72118	2.19	0.39230	D	0.963653	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	D;D;D;D	0.77557	0.99;0.973;0.941;0.973	T	0.01185	-1.1425	10	0.54805	T	0.06	.	16.5835	0.84720	0.0:0.0:1.0:0.0	.	303;303;303;303	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	D	303	ENSP00000396117:H303D;ENSP00000357315:H303D;ENSP00000271883:H303D;ENSP00000354322:H303D	ENSP00000271883:H303D	H	-	1	0	GON4L	154057945	1.000000	0.71417	0.989000	0.46669	0.880000	0.50808	7.337000	0.79256	2.693000	0.91896	0.655000	0.94253	CAC		0.393	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		Missense_Mutation
OR10J1	26476	broad.mit.edu	37	1	159409906	159409906	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:159409906A>T	ENST00000423932.3	+	1	395	c.358A>T	c.(358-360)Atc>Ttc	p.I120F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	120					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I120F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACCTTTGGCATCACTAACTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											110.0	92.0	98.0					1																	159409906		2203	4300	6503	157676530	SO:0001583	missense	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.358A>T	1.37:g.159409906A>T	ENSP00000399078:p.Ile120Phe		157676530	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461109	0.43736	.	.	ENSG00000196184	ENST00000423932	T	0.01313	5.02	4.49	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000737	T	0.01124	0.0037	L	0.42581	1.335	0.09310	N	1	D	0.64830	0.994	D	0.71656	0.974	T	0.44143	-0.9347	10	0.09843	T	0.71	.	5.7886	0.18347	0.7917:0.0:0.2083:0.0	.	120	P30954	O10J1_HUMAN	F	120	ENSP00000399078:I120F	ENSP00000399078:I120F	I	+	1	0	OR10J1	157676530	0.000000	0.05858	0.029000	0.17559	0.976000	0.68499	0.114000	0.15520	0.854000	0.35336	0.533000	0.62120	ATC		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		Missense_Mutation
LRRC52	440699	broad.mit.edu	37	1	165513563	165513563	+	Silent	SNP	G	G	T	rs137987001		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:165513563G>T	ENST00000294818.1	+	1	320	c.30G>T	c.(28-30)ggG>ggT	p.G10G	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	10					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G10G(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTGGCCCTGGGTGGTTACTCT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											119.0	113.0	115.0					1																	165513563		2203	4300	6503	163780187	SO:0001819	synonymous_variant	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.30G>T	1.37:g.165513563G>T			163780187	A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	CCDS30930.1	SNP	44	Broad																																																																																				0.532	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		Silent
CACNA1S	779	broad.mit.edu	37	1	201061156	201061156	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:201061156T>G	ENST00000362061.3	-	4	711	c.485A>C	c.(484-486)aAg>aCg	p.K162T	CACNA1S_ENST00000367338.3_Missense_Mutation_p.K162T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	162					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K162T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTGAGGGCCTTGACATCCAA	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											89.0	83.0	85.0					1																	201061156		2203	4300	6503	199327779	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.485A>C	1.37:g.201061156T>G	ENSP00000355192:p.Lys162Thr		199327779	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887834	0.72410	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97505	-4.41;-4.41	4.48	4.48	0.54585	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.80616	2.505	0.44946	D	0.997969	D	0.89917	1.0	D	0.97110	1.0	D	0.98233	1.0484	10	0.59425	D	0.04	.	10.2539	0.43385	0.0:0.0818:0.0:0.9182	.	162	Q13698	CAC1S_HUMAN	T	162	ENSP00000355192:K162T;ENSP00000356307:K162T	ENSP00000355192:K162T	K	-	2	0	CACNA1S	199327779	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.886000	0.56190	1.784000	0.52394	0.533000	0.62120	AAG		0.592	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		Missense_Mutation
TLR5	7100	broad.mit.edu	37	1	223284970	223284970	+	Silent	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:223284970G>T	ENST00000540964.1	-	4	1865	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	TLR5_ENST00000342210.6_Silent_p.T468T			O60602	TLR5_HUMAN	toll-like receptor 5	468			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.T468T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTCTGAAGGGGTTTGATCTC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	1											81.0	83.0	82.0					1																	223284970		2203	4300	6503	221351593	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1404C>A	1.37:g.223284970G>T			221351593	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	CCDS31033.1	SNP	43	Broad																																																																																				0.413	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		Silent
EPHX1	2052	broad.mit.edu	37	1	226019478	226019478	+	Splice_Site	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr1:226019478A>T	ENST00000366837.4	+	3	379		c.e3-1		EPHX1_ENST00000467015.1_Splice_Site|EPHX1_ENST00000272167.5_Splice_Site	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)						aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATTTTGCTCCAGGACTTACAC	0.493																																																1	Unknown(1)	ovary(1)	1											82.0	75.0	77.0					1																	226019478		2203	4300	6503	224086101	SO:0001630	splice_region_variant	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.184-1A>T	1.37:g.226019478A>T			224086101	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Splice_Site_SNP	SNP	ENST00000366837.4	37	CCDS1547.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773918	0.49786	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8228	0.78673	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHX1	224086101	1.000000	0.71417	0.970000	0.41538	0.279000	0.26890	9.070000	0.93974	2.146000	0.66826	0.528000	0.53228	.		0.493	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	Intron	Splice_Site_SNP
DIP2C	22982	broad.mit.edu	37	10	436258	436258	+	Silent	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr10:436258G>C	ENST00000280886.6	-	12	1527	c.1440C>G	c.(1438-1440)ccC>ccG	p.P480P	DIP2C_ENST00000381496.3_Silent_p.P373P	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	480						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P480P(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAGTCTCGGGGCGGTTTGG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	10											128.0	126.0	127.0					10																	436258		2203	4300	6503	426258	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1440C>G	10.37:g.436258G>C			426258	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1	SNP	43	Broad																																																																																				0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		Silent
CUBN	8029	broad.mit.edu	37	10	17145125	17145125	+	Splice_Site	SNP	T	T	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr10:17145125T>G	ENST00000377833.4	-	13	1594	c.1529A>C	c.(1528-1530)aAg>aCg	p.K510T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	510	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.K510T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACATTTACCTTTCCCATTTC	0.328																																																1	Substitution - Missense(1)	ovary(1)	10											87.0	84.0	85.0					10																	17145125		2203	4300	6503	17185131	SO:0001630	splice_region_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1530+1A>C	10.37:g.17145125T>G			17185131	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081884	0.55861	.	.	ENSG00000107611	ENST00000377833	T	0.59906	0.23	5.65	5.65	0.86999	CUB (5);	0.000000	0.46758	D	0.000263	T	0.75591	0.3870	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.77056	-0.2729	10	0.49607	T	0.09	.	15.8914	0.79303	0.0:0.0:0.0:1.0	.	510	O60494	CUBN_HUMAN	T	510	ENSP00000367064:K510T	ENSP00000367064:K510T	K	-	2	0	CUBN	17185131	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	6.173000	0.71937	2.154000	0.67381	0.528000	0.53228	AAG		0.328	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Missense_Mutation	Missense_Mutation
ZNF365	22891	broad.mit.edu	37	10	64136256	64136256	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr10:64136256T>C	ENST00000395254.3	+	2	584	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.Y102H|ZNF365_ENST00000395255.3_Missense_Mutation_p.Y102H	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	61								p.Y102H(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTTAACTTGTACAGCATTTC	0.493																																																1	Substitution - Missense(1)	ovary(1)	10											127.0	111.0	116.0					10																	64136256		2203	4300	6503	63806262	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.304T>C	10.37:g.64136256T>C	ENSP00000378674:p.Tyr102His		63806262		Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	SNP	57	Broad	.	.	.	.	.	.	.	.	.	.	T	6.879	0.531591	0.13127	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35605	1.3;1.3;1.3	5.61	5.61	0.85477	.	1.157610	0.06314	N	0.703224	T	0.28001	0.0690	L	0.38175	1.15	0.58432	D	0.999997	B;B;B;B	0.29432	0.244;0.019;0.019;0.019	B;B;B;B	0.22753	0.041;0.018;0.012;0.018	T	0.11867	-1.0570	10	0.15952	T	0.53	-2.1542	7.4495	0.27229	0.0:0.0724:0.1441:0.7835	.	102;102;102;117	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	H	102	ENSP00000378674:Y102H;ENSP00000378675:Y102H;ENSP00000387091:Y102H	ENSP00000378674:Y102H	Y	+	1	0	ZNF365	63806262	0.999000	0.42202	1.000000	0.80357	0.822000	0.46500	3.411000	0.52672	2.138000	0.66242	0.454000	0.30748	TAC		0.493	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		Missense_Mutation
JMJD1C	221037	broad.mit.edu	37	10	64944406	64944406	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr10:64944406A>T	ENST00000399262.2	-	21	7141	c.6923T>A	c.(6922-6924)gTa>gAa	p.V2308E	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.V2126E|JMJD1C_ENST00000402544.1_Missense_Mutation_p.V2071E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2308	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.V2071E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCAGGACGTACAAAAAATCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											100.0	98.0	98.0					10																	64944406		1834	4080	5914	64614412	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6923T>A	10.37:g.64944406A>T	ENSP00000382204:p.Val2308Glu		64614412	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	SNP	14	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.226229|4.226229	0.79576|0.79576	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	D;D;D|.	0.83992|.	-1.79;-1.79;-1.79|.	5.96|5.96	4.81|4.81	0.61882|0.61882	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.81914|.	0.995;0.995;0.92|.	T|T	0.61073|0.61073	-0.7136|-0.7136	10|5	0.72032|.	D|.	0.01|.	-14.127|-14.127	13.0011|13.0011	0.58676|0.58676	0.8649:0.1351:0.0:0.0|0.8649:0.1351:0.0:0.0	.|.	2126;2308;2126|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	E|N	2308;2071;2126|855	ENSP00000382204:V2308E;ENSP00000384990:V2071E;ENSP00000444682:V2126E|.	ENSP00000382204:V2308E|.	V|Y	-|-	2|1	0|0	JMJD1C|JMJD1C	64614412|64614412	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.860000|0.860000	0.49131|0.49131	9.307000|9.307000	0.96226|0.96226	1.056000|1.056000	0.40484|0.40484	-0.446000|-0.446000	0.05623|0.05623	GTA|TAC		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		Missense_Mutation
DOCK1	1793	broad.mit.edu	37	10	128797685	128797685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr10:128797685C>T	ENST00000280333.6	+	9	944	c.835C>T	c.(835-837)Cga>Tga	p.R279*	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	279					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R279*(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACATAATTTGCGAGCCGTGTT	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	10											103.0	98.0	100.0					10																	128797685		1896	4130	6026	128687675	SO:0001587	stop_gained	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.835C>T	10.37:g.128797685C>T	ENSP00000280333:p.Arg279*		128687675	A9Z1Z5	Nonsense_Mutation	SNP	ENST00000280333.6	37		SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	38	7.065561	0.98040	.	.	ENSG00000150760	ENST00000280333	.	.	.	3.97	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	13.7232	0.62740	0.1555:0.8445:0.0:0.0	.	.	.	.	X	279	.	ENSP00000280333:R279X	R	+	1	2	DOCK1	128687675	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.645000	0.67909	1.212000	0.43366	0.563000	0.77884	CGA		0.403	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		Nonsense_Mutation
IGSF22	283284	broad.mit.edu	37	11	18739641	18739641	+	Splice_Site	SNP	C	C	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr11:18739641C>G	ENST00000513874.1	-	9	950		c.e9-1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22									p.?(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTCAGTACCCTGCCTCATGG	0.537																																																1	Unknown(1)	ovary(1)	11											112.0	105.0	107.0					11																	18739641		2039	4188	6227	18696217	SO:0001630	splice_region_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.811-1G>C	11.37:g.18739641C>G			18696217	A6NNA0|D6RGV7	Splice_Site_SNP	SNP	ENST00000513874.1	37	CCDS41625.2	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327938	0.60743	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4642	0.61243	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18696217	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	4.868000	0.63021	1.883000	0.54544	0.561000	0.74099	.		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	Splice_Site_SNP
OR5AN1	390195	broad.mit.edu	37	11	59132241	59132241	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr11:59132241A>T	ENST00000313940.2	+	1	357	c.310A>T	c.(310-312)Atc>Ttc	p.I104F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I104F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCAGTACTTTATCTTTTCAAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											206.0	188.0	194.0					11																	59132241		2201	4295	6496	58888817	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.310A>T	11.37:g.59132241A>T	ENSP00000320302:p.Ile104Phe		58888817	B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.576175	0.00887	.	.	ENSG00000176495	ENST00000313940	T	0.00302	8.2	4.42	-7.93	0.01156	GPCR, rhodopsin-like superfamily (1);	0.722427	0.12385	N	0.473539	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	P	0.44946	0.846	B	0.40101	0.319	T	0.52946	-0.8507	10	0.02654	T	1	-4.2895	5.7136	0.17948	0.1746:0.0:0.2984:0.527	.	104	Q8NGI8	O5AN1_HUMAN	F	104	ENSP00000320302:I104F	ENSP00000320302:I104F	I	+	1	0	OR5AN1	58888817	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-3.028000	0.00639	-0.925000	0.03775	-0.408000	0.06270	ATC		0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		Missense_Mutation
AHNAK	79026	broad.mit.edu	37	11	62286515	62286515	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr11:62286515G>C	ENST00000378024.4	-	5	15648	c.15374C>G	c.(15373-15375)tCt>tGt	p.S5125C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5125					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S5125C(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGCTGGCAAAGAAAGTTCCAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											71.0	71.0	71.0					11																	62286515		2202	4299	6501	62043091	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15374C>G	11.37:g.62286515G>C	ENSP00000367263:p.Ser5125Cys		62043091	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865504	0.17250	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.7	3.76	0.43208	.	0.000000	0.44483	D	0.000459	T	0.05914	0.0154	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.03287	-1.1052	10	0.59425	D	0.04	-1.6751	12.8273	0.57726	0.0:0.0:0.7051:0.2949	.	5125	Q09666	AHNK_HUMAN	C	5125	ENSP00000367263:S5125C	ENSP00000367263:S5125C	S	-	2	0	AHNAK	62043091	1.000000	0.71417	0.587000	0.28692	0.129000	0.20672	4.281000	0.58965	1.055000	0.40461	0.542000	0.68232	TCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		Missense_Mutation
SLC22A10	387775	broad.mit.edu	37	11	63057878	63057878	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr11:63057878T>A	ENST00000332793.6	+	1	243	c.241T>A	c.(241-243)Tca>Aca	p.S81T	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.S29T|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	81						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S81T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CCCACTAGACTCAAATCTGAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											112.0	116.0	114.0					11																	63057878		2201	4298	6499	62814454	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.241T>A	11.37:g.63057878T>A	ENSP00000327569:p.Ser81Thr		62814454	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	2.095	-0.407357	0.04832	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66099	2.48;-0.19	2.89	2.89	0.33648	.	0.523213	0.16788	U	0.199520	T	0.72285	0.3441	M	0.81802	2.56	0.41428	D	0.98784	B;D	0.69078	0.095;0.997	B;P	0.61328	0.046;0.887	T	0.69800	-0.5047	10	0.24483	T	0.36	.	7.6374	0.28274	0.0:0.0:0.0:1.0	.	29;81	E9PJB1;Q63ZE4	.;S22AA_HUMAN	T	81;29	ENSP00000327569:S81T;ENSP00000433908:S29T	ENSP00000327569:S81T	S	+	1	0	SLC22A10	62814454	0.001000	0.12720	0.052000	0.19188	0.218000	0.24690	-0.061000	0.11693	1.360000	0.45960	0.472000	0.43445	TCA		0.493	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		Missense_Mutation
BIRC3	330	broad.mit.edu	37	11	102207518	102207518	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr11:102207518C>G	ENST00000263464.3	+	8	4357	c.1607C>G	c.(1606-1608)aCa>aGa	p.T536R	BIRC3_ENST00000532808.1_Missense_Mutation_p.T536R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	536					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T536R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATATTCCCACAGAAGATGTT	0.269			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	1	Substitution - Missense(1)	ovary(1)	11											72.0	73.0	72.0					11																	102207518		2202	4297	6499	101712728	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1607C>G	11.37:g.102207518C>G	ENSP00000263464:p.Thr536Arg		101712728	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744611	0.49151	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.26518	1.73;1.73	5.34	3.46	0.39613	Baculoviral inhibition of apoptosis protein repeat (1);DEATH-like (1);	0.289920	0.44285	D	0.000474	T	0.31857	0.0810	L	0.49126	1.545	0.38892	D	0.957138	P	0.52577	0.954	P	0.51777	0.679	T	0.10474	-1.0628	10	0.59425	D	0.04	.	9.1464	0.36935	0.0:0.7757:0.1466:0.0777	.	536	Q13489	BIRC3_HUMAN	R	536;536;304	ENSP00000263464:T536R;ENSP00000432907:T536R	ENSP00000263464:T536R	T	+	2	0	BIRC3	101712728	0.978000	0.34361	0.949000	0.38748	0.894000	0.52154	1.653000	0.37323	0.816000	0.34421	-0.225000	0.12378	ACA		0.269	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		Missense_Mutation
KCNA5	3741	broad.mit.edu	37	12	5153943	5153943	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr12:5153943G>A	ENST00000252321.3	+	1	859	c.630G>A	c.(628-630)atG>atA	p.M210I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	210					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.M210I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	ACGAGGCCATGGAGCGCTTCC	0.627																																																1	Substitution - Missense(1)	ovary(1)	12											48.0	53.0	51.0					12																	5153943		2203	4300	6503	5024204	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.630G>A	12.37:g.5153943G>A	ENSP00000252321:p.Met210Ile		5024204	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	CCDS8536.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	9.413	1.081117	0.20309	.	.	ENSG00000130037	ENST00000252321	T	0.73575	-0.76	4.77	4.77	0.60923	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	U	0.000000	T	0.49932	0.1586	N	0.01522	-0.82	0.52501	D	0.999951	B	0.09022	0.002	B	0.12837	0.008	T	0.48163	-0.9059	10	0.29301	T	0.29	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	210	P22460	KCNA5_HUMAN	I	210	ENSP00000252321:M210I	ENSP00000252321:M210I	M	+	3	0	KCNA5	5024204	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.435000	0.73412	2.478000	0.83669	0.561000	0.74099	ATG		0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		Missense_Mutation
TSPAN19	144448	broad.mit.edu	37	12	85417152	85417152	+	Silent	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr12:85417152A>G	ENST00000532498.2	-	5	371	c.291T>C	c.(289-291)ttT>ttC	p.F97F	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	97						integral component of membrane (GO:0016021)		p.F97F(1)		ovary(1)	1						CCTGAACAGCAAAGGTCCATG	0.318																																																1	Substitution - coding silent(1)	ovary(1)	12											69.0	62.0	64.0					12																	85417152		1850	4098	5948	83941283	SO:0001819	synonymous_variant	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.291T>C	12.37:g.85417152A>G			83941283		Silent	SNP	ENST00000532498.2	37	CCDS44949.1	SNP	5	Broad																																																																																				0.318	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		Silent
TPTE2	93492	broad.mit.edu	37	13	20041412	20041412	+	Silent	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr13:20041412A>G	ENST00000400230.2	-	7	509	c.465T>C	c.(463-465)gaT>gaC	p.D155D	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Silent_p.D155D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	155					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTAAATGACATCAACCAGCA	0.279																																																0			13											48.0	53.0	51.0					13																	20041412		2201	4289	6490	18939412	SO:0001819	synonymous_variant	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.465T>C	13.37:g.20041412A>G			18939412	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1	SNP	8	Broad																																																																																				0.279	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		Silent
ATP7B	540	broad.mit.edu	37	13	52509059	52509059	+	Missense_Mutation	SNP	G	G	A	rs559705781		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr13:52509059G>A	ENST00000242839.4	-	21	4387	c.4231C>T	c.(4231-4233)Cgg>Tgg	p.R1411W	ATP7B_ENST00000418097.2_Missense_Mutation_p.R1346W|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1333W|ATP7B_ENST00000417240.2_Missense_Mutation_p.R622W|ATP7B_ENST00000344297.5_Missense_Mutation_p.R1204W|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1300W|ATP7B_ENST00000400370.3_Missense_Mutation_p.R981W	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1411					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.R1411W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GGGGAGTCCCGCCACCTGTCA	0.632									Wilson disease				g|||	1	0.000199681	0.0	0.0	5008	,	,		19008	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	13											84.0	92.0	89.0					13																	52509059		2163	4268	6431	51407060	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4231C>T	13.37:g.52509059G>A	ENSP00000242839:p.Arg1411Trp		51407060	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	g	7.757	0.704544	0.15172	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.93	-0.548	0.11833	.	0.574388	0.18080	N	0.152334	T	0.62344	0.2420	M	0.62723	1.935	0.28878	N	0.894569	B;B;B;B;B;P;B;B	0.41450	0.032;0.139;0.162;0.032;0.162;0.75;0.162;0.078	B;B;B;B;B;B;B;B	0.32211	0.009;0.033;0.037;0.001;0.037;0.142;0.037;0.033	T	0.59156	-0.7507	10	0.66056	D	0.02	-5.8722	7.6175	0.28167	0.1868:0.0:0.4472:0.366	.	1333;1363;1346;622;981;1300;1204;1411	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	W	1411;1300;1204;622;1333;981;1346	ENSP00000242839:R1411W;ENSP00000383217:R1300W;ENSP00000342559:R1204W;ENSP00000390360:R622W;ENSP00000416738:R1333W;ENSP00000383221:R981W;ENSP00000393343:R1346W	ENSP00000242839:R1411W	R	-	1	2	ATP7B	51407060	0.033000	0.19621	0.011000	0.14972	0.002000	0.02628	0.850000	0.27737	-0.055000	0.13244	-0.771000	0.03389	CGG		0.632	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		Missense_Mutation
SLITRK5	26050	broad.mit.edu	37	13	88330418	88330418	+	Silent	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr13:88330418A>G	ENST00000325089.6	+	2	2994	c.2775A>G	c.(2773-2775)gtA>gtG	p.V925V	SLITRK5_ENST00000400028.3_Silent_p.V684V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	925					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.V925V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGTCTTTGTAGAACCCAACC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	13											92.0	102.0	98.0					13																	88330418		2203	4298	6501	87128419	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2775A>G	13.37:g.88330418A>G			87128419	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1	SNP	15	Broad																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			Silent
FARP1	10160	broad.mit.edu	37	13	99043104	99043104	+	Missense_Mutation	SNP	A	A	T	rs547864277		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr13:99043104A>T	ENST00000319562.6	+	11	1323	c.1058A>T	c.(1057-1059)gAa>gTa	p.E353V	FARP1_ENST00000595437.1_Missense_Mutation_p.E353V|FARP1_ENST00000376586.2_Missense_Mutation_p.E353V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	353					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E353V(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TATGTTAAAGAAGGAGGACAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	13											159.0	145.0	150.0					13																	99043104		2203	4300	6503	97841105	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1058A>T	13.37:g.99043104A>T	ENSP00000322926:p.Glu353Val		97841105	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	33	5.231762	0.95207	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	D;D	0.87029	-2.2;-2.2	5.66	5.66	0.87406	FERM adjacent (FA) (1);	0.048944	0.85682	D	0.000000	D	0.90553	0.7039	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.79784	0.993;0.827	D	0.89629	0.3854	10	0.35671	T	0.21	.	15.8839	0.79226	1.0:0.0:0.0:0.0	.	353;353	Q9Y4F1;C9JME2	FARP1_HUMAN;.	V	353;58;353	ENSP00000365771:E353V;ENSP00000322926:E353V	ENSP00000322926:E353V	E	+	2	0	FARP1	97841105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.310000	0.96267	2.158000	0.67659	0.533000	0.62120	GAA		0.458	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		Missense_Mutation
GMPR2	51292	broad.mit.edu	37	14	24707820	24707820	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr14:24707820G>C	ENST00000355299.4	+	10	1344	c.883G>C	c.(883-885)Gtt>Ctt	p.V295L	GMPR2_ENST00000557854.1_Missense_Mutation_p.V374L|GMPR2_ENST00000399440.2_Missense_Mutation_p.V295L|GMPR2_ENST00000348719.7_Missense_Mutation_p.V356L|GMPR2_ENST00000559836.1_Missense_Mutation_p.V295L|GMPR2_ENST00000559104.1_Missense_Mutation_p.V280L|GMPR2_ENST00000420554.2_Missense_Mutation_p.V313L|GMPR2_ENST00000559910.1_Missense_Mutation_p.V262L|GMPR2_ENST00000456667.3_Missense_Mutation_p.V267L	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	295					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.V295L(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GACAGTGGAAGTTCCTTTTAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	14											114.0	106.0	109.0					14																	24707820		1962	4167	6129	23777660	SO:0001583	missense	51292				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.883G>C	14.37:g.24707820G>C	ENSP00000347449:p.Val295Leu		23777660	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	CCDS41935.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171894	0.21704	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	6.17	4.37	0.52481	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.055271	0.64402	D	0.000001	T	0.74891	0.3776	L	0.58101	1.795	0.30471	N	0.773287	B;B;B;B;B;B	0.29531	0.002;0.071;0.247;0.049;0.006;0.023	B;B;B;B;B;B	0.30029	0.015;0.075;0.11;0.022;0.015;0.037	T	0.66945	-0.5795	10	0.13853	T	0.58	-1.4763	12.4528	0.55686	0.1372:0.0:0.8628:0.0	.	132;267;356;313;297;295	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	L	295;295;313;295;356;267	ENSP00000347449:V295L;ENSP00000392859:V313L;ENSP00000382369:V295L;ENSP00000334409:V356L;ENSP00000405743:V267L	ENSP00000334409:V356L	V	+	1	0	GMPR2	23777660	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.613000	0.74192	0.951000	0.37770	-0.140000	0.14226	GTT		0.463	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		Missense_Mutation
SYNE2	23224	broad.mit.edu	37	14	64518439	64518439	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr14:64518439T>C	ENST00000344113.4	+	48	8020	c.7808T>C	c.(7807-7809)cTt>cCt	p.L2603P	SYNE2_ENST00000554584.1_Missense_Mutation_p.L2636P|SYNE2_ENST00000358025.3_Missense_Mutation_p.L2603P|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2603					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L2603P(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTAAGCAACTTGAACATGGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											101.0	95.0	97.0					14																	64518439		1874	4113	5987	63588192	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7808T>C	14.37:g.64518439T>C	ENSP00000341781:p.Leu2603Pro		63588192	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	6.137	0.393538	0.11638	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.70282	0.63;0.63;-0.47	5.91	4.77	0.60923	.	0.000000	0.52532	D	0.000078	T	0.60715	0.2290	L	0.34521	1.04	0.80722	D	1	B;B	0.32203	0.246;0.36	B;B	0.34385	0.088;0.181	T	0.61574	-0.7035	10	0.72032	D	0.01	.	10.5827	0.45265	0.0:0.0722:0.0:0.9278	.	2603;2603	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	2603;2603;2636;2636	ENSP00000350719:L2603P;ENSP00000341781:L2603P;ENSP00000452570:L2636P	ENSP00000261678:L2636P	L	+	2	0	SYNE2	63588192	0.998000	0.40836	0.062000	0.19696	0.101000	0.19017	5.172000	0.65003	1.066000	0.40716	-0.250000	0.11733	CTT		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		Missense_Mutation
KIAA0247	9766	broad.mit.edu	37	14	70171360	70171360	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr14:70171360C>A	ENST00000342745.4	+	4	672	c.359C>A	c.(358-360)tCt>tAt	p.S120Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	120						integral component of membrane (GO:0016021)		p.S120Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCCACGCTGTCTATAGTGGCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											80.0	68.0	72.0					14																	70171360		2203	4300	6503	69241113	SO:0001583	missense	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.359C>A	14.37:g.70171360C>A	ENSP00000344424:p.Ser120Tyr		69241113		Missense_Mutation	SNP	ENST00000342745.4	37	CCDS9796.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895376	0.91962	.	.	ENSG00000100647	ENST00000342745	T	0.67865	-0.29	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82065	-0.0642	10	0.66056	D	0.02	-13.8884	19.2191	0.93789	0.0:1.0:0.0:0.0	.	120	Q92537	K0247_HUMAN	Y	120	ENSP00000344424:S120Y	ENSP00000344424:S120Y	S	+	2	0	KIAA0247	69241113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.426000	0.80270	2.541000	0.85698	0.561000	0.74099	TCT		0.498	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		Missense_Mutation
EPB42	2038	broad.mit.edu	37	15	43500502	43500502	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr15:43500502A>T	ENST00000441366.2	-	8	1226	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	EPB42_ENST00000300215.3_Missense_Mutation_p.M364K|EPB42_ENST00000540029.1_Missense_Mutation_p.M256K|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	334					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.M364K(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGCCGCGTCATCCAGCACTC	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											68.0	58.0	61.0					15																	43500502		2203	4299	6502	41287794	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1001T>A	15.37:g.43500502A>T	ENSP00000396616:p.Met334Lys		41287794	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543307	0.86022	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366	T;T;T	0.54279	0.58;0.58;0.58	5.77	5.77	0.91146	Transglutaminase-like (2);	0.036561	0.85682	D	0.000000	T	0.78742	0.4331	M	0.93808	3.46	0.58432	D	0.999995	D;D;D;D	0.76494	0.989;0.997;0.999;0.997	P;D;D;D	0.71414	0.836;0.97;0.973;0.97	D	0.84410	0.0565	10	0.87932	D	0	-28.2954	14.3281	0.66534	1.0:0.0:0.0:0.0	.	256;334;364;334	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	K	364;256;334	ENSP00000300215:M364K;ENSP00000444699:M256K;ENSP00000396616:M334K	ENSP00000300215:M364K	M	-	2	0	EPB42	41287794	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	8.489000	0.90461	2.330000	0.79161	0.528000	0.53228	ATG		0.527	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		Missense_Mutation
DUOX1	53905	broad.mit.edu	37	15	45442897	45442897	+	Silent	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr15:45442897C>T	ENST00000321429.4	+	23	3293	c.2886C>T	c.(2884-2886)atC>atT	p.I962I	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.I962I|DUOX1_ENST00000561166.1_Silent_p.I608I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	962	Interaction with TXNDC11. {ECO:0000250}.		I -> T (in dbSNP:rs16939743).		cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.I962I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGATATGATCTGGTGAGCAC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	15											47.0	44.0	45.0					15																	45442897		2198	4298	6496	43230189	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2886C>T	15.37:g.45442897C>T			43230189	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1	SNP	32	Broad																																																																																				0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		Silent
C16orf91	283951	broad.mit.edu	37	16	1479277	1479277	+	Silent	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:1479277C>A	ENST00000310355.1	-	1	68	c.69G>T	c.(67-69)ggG>ggT	p.G23G				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)		p.G23G(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGATGCTGTCCCTGTCCCCA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	16											123.0	131.0	128.0					16																	1479277		2199	4300	6499	1419278	SO:0001819	synonymous_variant	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.69G>T	16.37:g.1479277C>A			1419278	Q96RZ0	Silent	SNP	ENST00000310355.1	37	CCDS32360.1	SNP	30	Broad																																																																																				0.657	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878		Silent
TMC7	79905	broad.mit.edu	37	16	19056666	19056666	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:19056666T>A	ENST00000304381.5	+	11	1589	c.1459T>A	c.(1459-1461)Tgg>Agg	p.W487R	TMC7_ENST00000569532.1_Missense_Mutation_p.W487R|TMC7_ENST00000421369.3_Missense_Mutation_p.W377R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	487					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.W487R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTTCAGTGCTGGGAGACCCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											130.0	109.0	116.0					16																	19056666		2197	4300	6497	18964167	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1459T>A	16.37:g.19056666T>A	ENSP00000304710:p.Trp487Arg		18964167	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416470	0.83449	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.74421	-0.84;-0.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.87732	0.6251	M	0.89840	3.065	0.80722	D	1	D;P	0.60575	0.988;0.942	D;P	0.64595	0.927;0.9	D	0.90463	0.4447	10	0.87932	D	0	.	15.1905	0.73041	0.0:0.0:0.0:1.0	.	487;487	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	487;377	ENSP00000304710:W487R;ENSP00000397081:W377R	ENSP00000304710:W487R	W	+	1	0	TMC7	18964167	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.948000	0.87774	1.973000	0.57446	0.454000	0.30748	TGG		0.463	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		Missense_Mutation
RABEP2	79874	broad.mit.edu	37	16	28922431	28922431	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:28922431G>A	ENST00000358201.4	-	6	1552	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	RABEP2_ENST00000544477.1_Missense_Mutation_p.R251W|RABEP2_ENST00000357573.6_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	322					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R322W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTGCTCCGTCTCAGGCCC	0.672																																					Pancreas(66;639 1284 10093 31061 49099)											1	Substitution - Missense(1)	ovary(1)	16											55.0	67.0	63.0					16																	28922431		2144	4239	6383	28829932	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.964C>T	16.37:g.28922431G>A	ENSP00000350934:p.Arg322Trp		28829932		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851293	0.71719	.	.	ENSG00000177548	ENST00000358201;ENST00000544477	T;T	0.32753	1.44;1.44	5.03	1.7	0.24286	Rabaptin coiled-coil domain (1);	0.365727	0.24864	N	0.034981	T	0.39118	0.1066	L	0.36672	1.1	0.31209	N	0.698897	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.998;0.877;0.993	T	0.37009	-0.9724	10	0.72032	D	0.01	-34.5244	6.8316	0.23913	0.0815:0.0:0.4633:0.4551	.	251;322;322	B4DHR0;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	W	322;251	ENSP00000350934:R322W;ENSP00000442798:R251W	ENSP00000350934:R322W	R	-	1	2	RABEP2	28829932	0.984000	0.35163	0.885000	0.34714	0.982000	0.71751	1.799000	0.38824	0.498000	0.27948	0.561000	0.74099	CGG		0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		Missense_Mutation
ABCC11	85320	broad.mit.edu	37	16	48230203	48230203	+	Nonsense_Mutation	SNP	C	C	A	rs149334541		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:48230203C>A	ENST00000394747.1	-	17	2693	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	ABCC11_ENST00000356608.2_Nonsense_Mutation_p.E782*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.E782*|ABCC11_ENST00000537808.1_Missense_Mutation_p.R749S|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.E782*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	782					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.E782K(1)|p.E782*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCTTCCATCTCCTCCTCCTGT	0.562																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|skin(1)	16											128.0	93.0	105.0					16																	48230203		2201	4300	6501	46787704	SO:0001587	stop_gained	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2344G>T	16.37:g.48230203C>A	ENSP00000378230:p.Glu782*		46787704	Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	SNP	30	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.260463|7.260463	0.98171|0.98171	.|.	.|.	ENSG00000121270|ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747|ENST00000537808	.|D	.|0.92805	.|-3.11	5.24|5.24	0.692|0.692	0.18050|0.18050	.|.	1.277270|.	0.05123|.	N|.	0.491111|.	.|D	.|0.85982	.|0.5824	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999986|0.999986	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74456	.|-0.3659	.|6	0.22706|0.33940	T|T	0.39|0.23	-3.8781|-3.8781	2.8913|2.8913	0.05677|0.05677	0.1966:0.4052:0.0:0.3983|0.1966:0.4052:0.0:0.3983	.|.	.|.	.|.	.|.	X|S	782|749	.|ENSP00000438530:R749S	ENSP00000311326:E782X|ENSP00000438530:R749S	E|R	-|-	1|3	0|2	ABCC11|ABCC11	46787704|46787704	0.006000|0.006000	0.16342|0.16342	0.846000|0.846000	0.33378|0.33378	0.068000|0.068000	0.16541|0.16541	0.020000|0.020000	0.13466|0.13466	-0.132000|-0.132000	0.11557|0.11557	-0.140000|-0.140000	0.14226|0.14226	GAG|AGG		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		Nonsense_Mutation
CCDC113	29070	broad.mit.edu	37	16	58283935	58283935	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:58283935C>T	ENST00000219299.4	+	1	96	c.17C>T	c.(16-18)tCc>tTc	p.S6F	CCDC113_ENST00000566498.1_3'UTR|CCDC113_ENST00000443128.2_Missense_Mutation_p.S6F	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	6			S -> T (in dbSNP:rs8043590).			cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.S6F(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GATGATGAGTCCGAGAGCGTC	0.687																																																1	Substitution - Missense(1)	ovary(1)	16											33.0	29.0	30.0					16																	58283935		2195	4297	6492	56841436	SO:0001583	missense	29070			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.17C>T	16.37:g.58283935C>T	ENSP00000219299:p.Ser6Phe		56841436	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	CCDS10795.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807149	0.31961	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.43294	0.95;1.23	5.46	-1.83	0.07833	.	4.235380	0.00698	N	0.000760	T	0.39708	0.1088	L	0.57536	1.79	0.09310	N	1	B;B	0.29136	0.234;0.087	B;B	0.28305	0.088;0.049	T	0.23261	-1.0193	10	0.62326	D	0.03	7.2434	5.3526	0.16043	0.2122:0.4069:0.3125:0.0684	.	6;6	B4DR20;Q9H0I3	.;CC113_HUMAN	F	6	ENSP00000402588:S6F;ENSP00000219299:S6F	ENSP00000219299:S6F	S	+	2	0	CCDC113	56841436	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.299000	0.19138	-0.953000	0.03645	-2.631000	0.00153	TCC		0.687	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		Missense_Mutation
CDH16	1014	broad.mit.edu	37	16	66947454	66947454	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:66947454T>A	ENST00000299752.4	-	8	1036	c.843A>T	c.(841-843)gaA>gaT	p.E281D	CDH16_ENST00000565796.1_Missense_Mutation_p.E281D|CDH16_ENST00000568632.1_Missense_Mutation_p.E184D|CDH16_ENST00000570262.1_Missense_Mutation_p.E201D|CDH16_ENST00000394055.3_Missense_Mutation_p.E281D	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E281D(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGCATTCACTTCAAAGGGTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											122.0	113.0	116.0					16																	66947454		2200	4300	6500	65504955	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.843A>T	16.37:g.66947454T>A	ENSP00000299752:p.Glu281Asp		65504955	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	0.887	-0.726862	0.03158	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53206	0.63;0.63	5.39	-3.14	0.05250	Cadherin (4);Cadherin-like (1);	0.636580	0.16713	N	0.202597	T	0.12944	0.0314	N	0.01242	-0.935	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.18023	-1.0350	10	0.25751	T	0.34	-1.3153	2.5906	0.04841	0.2632:0.1247:0.0825:0.5296	.	281;281;281	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	D	281;281;245	ENSP00000377619:E281D;ENSP00000299752:E281D	ENSP00000299752:E281D	E	-	3	2	CDH16	65504955	0.152000	0.22762	0.884000	0.34674	0.019000	0.09904	-0.188000	0.09642	-0.224000	0.09928	-0.270000	0.10280	GAA		0.617	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		Missense_Mutation
PRDM7	11105	broad.mit.edu	37	16	90126903	90126903	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr16:90126903T>C	ENST00000449207.2	-	9	1098	c.1079A>G	c.(1078-1080)gAg>gGg	p.E360G	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	360					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGGCCATACTCATCCCCAGA	0.547																																																0			16											100.0	98.0	99.0					16																	90126903		1940	4145	6085	88654404	SO:0001583	missense	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1079A>G	16.37:g.90126903T>C	ENSP00000396732:p.Glu360Gly		88654404	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	.	7.612	0.674981	0.14841	.	.	ENSG00000126856	ENST00000449207	D	0.85702	-2.02	1.02	1.02	0.19986	SET domain (2);	.	.	.	.	D	0.88800	0.6535	M	0.76328	2.33	0.23425	N	0.997708	D	0.67145	0.996	D	0.65323	0.934	T	0.77003	-0.2749	8	.	.	.	-14.1093	4.6015	0.12356	0.0:0.0:0.0:1.0	.	360	Q9NQW5	PRDM7_HUMAN	G	360	ENSP00000396732:E360G	.	E	-	2	0	PRDM7	88654404	0.815000	0.29118	0.002000	0.10522	0.141000	0.21300	0.735000	0.26115	0.362000	0.24319	0.055000	0.15244	GAG		0.547	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			Missense_Mutation
MYO15A	51168	broad.mit.edu	37	17	18054759	18054759	+	Missense_Mutation	SNP	T	T	A	rs374708771		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr17:18054759T>A	ENST00000205890.5	+	40	8043	c.7705T>A	c.(7705-7707)Ttc>Atc	p.F2569I	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2569	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F2569I(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTGAGCACTTCCCACAGCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											73.0	78.0	76.0					17																	18054759		2083	4229	6312	17995484	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7705T>A	17.37:g.18054759T>A	ENSP00000205890:p.Phe2569Ile		17995484	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139196	0.56936	.	.	ENSG00000091536	ENST00000205890	D	0.87029	-2.2	5.25	4.14	0.48551	.	.	.	.	.	T	0.81143	0.4761	L	0.54323	1.7	0.80722	D	1	B	0.29188	0.236	B	0.22386	0.039	T	0.73541	-0.3950	9	0.19147	T	0.46	.	9.8908	0.41290	0.2718:0.0:0.0:0.7282	.	2569	Q9UKN7	MYO15_HUMAN	I	2569	ENSP00000205890:F2569I	ENSP00000205890:F2569I	F	+	1	0	MYO15A	17995484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.832000	0.27490	0.895000	0.36342	0.533000	0.62120	TTC		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		Missense_Mutation
KRT35	3886	broad.mit.edu	37	17	39633357	39633357	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr17:39633357T>G	ENST00000393989.1	-	7	1361	c.1319A>C	c.(1318-1320)aAc>aCc	p.N440T	KRT35_ENST00000246639.2_Missense_Mutation_p.N410T	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	440	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.N440T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGGGCTGCAGTTTGTGCGGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	17											45.0	53.0	50.0					17																	39633357		1935	4127	6062	36886883	SO:0001583	missense	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1319A>C	17.37:g.39633357T>G	ENSP00000377558:p.Asn440Thr		36886883	O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	CCDS11394.2	SNP	60	Broad	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.662493	0.00772	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.80304	-1.36;-1.31	5.41	-0.375	0.12509	.	0.562317	0.17311	N	0.178870	T	0.39545	0.1082	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46884	-0.9159	10	0.06365	T	0.9	.	4.0746	0.09897	0.0784:0.1273:0.308:0.4864	.	440	Q92764	KRT35_HUMAN	T	410;440	ENSP00000246639:N410T;ENSP00000377558:N440T	ENSP00000246639:N410T	N	-	2	0	KRT35	36886883	0.142000	0.22610	0.085000	0.20634	0.338000	0.28826	-0.019000	0.12546	-0.159000	0.11021	-0.247000	0.11927	AAC		0.622	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		Missense_Mutation
MBTD1	54799	broad.mit.edu	37	17	49272709	49272709	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr17:49272709C>A	ENST00000586178.1	-	13	1581	c.1238G>T	c.(1237-1239)gGa>gTa	p.G413V	MBTD1_ENST00000415868.1_Missense_Mutation_p.G413V|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	413					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G249V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CATCAGGAATCCGTCAGCTAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	17											100.0	86.0	91.0					17																	49272709		2203	4300	6503	46627708	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1238G>T	17.37:g.49272709C>A	ENSP00000468304:p.Gly413Val		46627708	Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	CCDS11581.2	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655456	0.88056	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.29917	1.55	5.36	5.36	0.76844	.	0.053226	0.85682	D	0.000000	T	0.59032	0.2164	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.986;0.999	D;D	0.71184	0.962;0.972	T	0.62859	-0.6765	10	0.87932	D	0	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	413;249	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	V	413	ENSP00000403946:G413V	ENSP00000386072:G413V	G	-	2	0	MBTD1	46627708	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.769000	0.85360	2.665000	0.90641	0.643000	0.83706	GGA		0.383	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			Missense_Mutation
USHBP1	83878	broad.mit.edu	37	19	17366269	17366269	+	Silent	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:17366269C>T	ENST00000252597.3	-	10	1790	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	USHBP1_ENST00000431146.2_Silent_p.Q475Q|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.Q539Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCCCACCAGCCTGGAGCTCTG	0.672																																																1	Substitution - coding silent(1)	ovary(1)	19											58.0	61.0	60.0					19																	17366269		2203	4300	6503	17227269	SO:0001819	synonymous_variant	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1617G>A	19.37:g.17366269C>T			17227269		Silent	SNP	ENST00000252597.3	37	CCDS12353.1	SNP	24	Broad																																																																																				0.672	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		Silent
MEGF8	1954	broad.mit.edu	37	19	42839282	42839282	+	Silent	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:42839282G>A	ENST00000251268.6	+	4	654	c.654G>A	c.(652-654)gtG>gtA	p.V218V	MEGF8_ENST00000334370.4_Silent_p.V218V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	218					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.V218V(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCACAACGTGAGTGCCAGGG	0.667																																																1	Substitution - coding silent(1)	ovary(1)	19											33.0	39.0	37.0					19																	42839282		2045	4176	6221	47531122	SO:0001819	synonymous_variant	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.654G>A	19.37:g.42839282G>A			47531122	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37		SNP	45	Broad																																																																																				0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		Silent
ZNF235	9310	broad.mit.edu	37	19	44791915	44791915	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:44791915A>T	ENST00000291182.4	-	5	1775	c.1673T>A	c.(1672-1674)cTt>cAt	p.L558H	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L558H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATGATTGTGAAGATTCAAGCT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											86.0	82.0	83.0					19																	44791915		2203	4300	6503	49483755	SO:0001583	missense	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1673T>A	19.37:g.44791915A>T	ENSP00000291182:p.Leu558His		49483755	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103280	0.76983	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.14266	2.52	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37955	N	0.001866	T	0.48768	0.1518	H	0.94222	3.51	0.47862	D	0.999537	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63769	-0.6562	10	0.87932	D	0	.	14.0388	0.64663	1.0:0.0:0.0:0.0	.	554;558	Q14590-2;Q14590	.;ZN235_HUMAN	H	558;558;450	ENSP00000291182:L558H	ENSP00000291182:L558H	L	-	2	0	ZNF235	49483755	0.998000	0.40836	0.958000	0.39756	0.983000	0.72400	4.704000	0.61831	2.023000	0.59567	0.379000	0.24179	CTT		0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			Missense_Mutation
FBXO46	23403	broad.mit.edu	37	19	46215245	46215245	+	Silent	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:46215245G>A	ENST00000317683.3	-	2	1642	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	503	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.F503F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGATGCCCTTGAAGTGGTGGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											24.0	25.0	25.0					19																	46215245		2129	4238	6367	50907085	SO:0001819	synonymous_variant	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1509C>T	19.37:g.46215245G>A			50907085		Silent	SNP	ENST00000317683.3	37	CCDS46116.1	SNP	45	Broad																																																																																				0.637	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		Silent
PGLYRP1	8993	broad.mit.edu	37	19	46522497	46522497	+	Silent	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:46522497C>T	ENST00000008938.4	-	3	633	c.590G>A	c.(589-591)tGa>tAa	p.*197*	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	0					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|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)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.*197*(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGCAGGGCCTCAGGGGGAGCG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											160.0	161.0	160.0					19																	46522497		2203	4300	6503	51214337	SO:0001819	synonymous_variant	8993			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.590G>A	19.37:g.46522497C>T			51214337	Q4VB36	Silent	SNP	ENST00000008938.4	37	CCDS12680.1	SNP	29	Broad																																																																																				0.547	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		Silent
HRC	3270	broad.mit.edu	37	19	49657294	49657294	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:49657294T>C	ENST00000252825.4	-	1	1387	c.1201A>G	c.(1201-1203)Agt>Ggt	p.S401G	HRC_ENST00000595625.1_Missense_Mutation_p.S401G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	401					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.S401G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCTTCATCACTCTTGTGGCCT	0.517																																					Melanoma(37;75 1097 24567 25669 30645)											1	Substitution - Missense(1)	ovary(1)	19											117.0	110.0	113.0					19																	49657294		2203	4300	6503	54349106	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1201A>G	19.37:g.49657294T>C	ENSP00000252825:p.Ser401Gly		54349106	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	2.728	-0.265084	0.05754	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.37235	1.21	3.18	0.417	0.16421	.	.	.	.	.	T	0.20129	0.0484	L	0.29908	0.895	0.09310	N	1	B	0.32918	0.39	B	0.28991	0.097	T	0.16867	-1.0388	9	0.24483	T	0.36	-0.6991	4.4721	0.11717	0.0:0.4993:0.0:0.5007	.	401	P23327	SRCH_HUMAN	G	401;100;371	ENSP00000252825:S401G	ENSP00000252825:S401G	S	-	1	0	HRC	54349106	0.001000	0.12720	0.008000	0.14137	0.174000	0.22865	0.104000	0.15313	0.283000	0.22279	0.379000	0.24179	AGT		0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		Missense_Mutation
CACNG7	59284	broad.mit.edu	37	19	54445451	54445451	+	Silent	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:54445451C>T	ENST00000391767.1	+	6	944	c.732C>T	c.(730-732)tcC>tcT	p.S244S	CACNG7_ENST00000222212.2_Silent_p.S244S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	244				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S244S(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGAGCCCCTCCGACATCTCCA	0.677																																																1	Substitution - coding silent(1)	ovary(1)	19											102.0	106.0	105.0					19																	54445451		2203	4300	6503	59137263	SO:0001819	synonymous_variant	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.732C>T	19.37:g.54445451C>T			59137263	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	CCDS12868.1	SNP	23	Broad																																																																																				0.677	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			Silent
LILRA3	11026	broad.mit.edu	37	19	54803581	54803581	+	Silent	SNP	G	G	T	rs202151416		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:54803581G>T	ENST00000251390.3	-	3	334	c.243C>A	c.(241-243)ggC>ggA	p.G81G	LILRA3_ENST00000391745.1_Silent_p.G98G|LILRA3_ENST00000391744.3_Silent_p.G81G	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	81	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G81G(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGAACTGGCCCTTCTTCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											165.0	138.0	147.0					19																	54803581		2195	4170	6365	59495393	SO:0001819	synonymous_variant	11026			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.243C>A	19.37:g.54803581G>T			59495393	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	CCDS12887.1	SNP	42	Broad																																																																																				0.547	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			Silent
RDH13	112724	broad.mit.edu	37	19	55556577	55556577	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:55556577G>C	ENST00000415061.3	-	7	1004	c.861C>G	c.(859-861)taC>taG	p.Y287*	RDH13_ENST00000592423.1_5'Flank|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|RDH13_ENST00000396247.3_Nonsense_Mutation_p.Y216*	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	287					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.Y216*(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GTCCATCGAAGTACTTTCCGG	0.652																																																1	Substitution - Nonsense(1)	ovary(1)	19											44.0	50.0	48.0					19																	55556577		1923	4126	6049	60248389	SO:0001587	stop_gained	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.861C>G	19.37:g.55556577G>C	ENSP00000391121:p.Tyr287*		60248389	Q6UX79|Q96G88	Nonsense_Mutation	SNP	ENST00000415061.3	37	CCDS54320.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.771209	0.96922	.	.	ENSG00000160439	ENST00000415061;ENST00000396247	.	.	.	4.61	2.5	0.30297	.	0.260889	0.39146	N	0.001459	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9799	0.19401	0.2924:0.0:0.7076:0.0	.	.	.	.	X	287;216	.	ENSP00000379547:Y216X	Y	-	3	2	RDH13	60248389	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	2.458000	0.45014	1.322000	0.45245	-0.671000	0.03813	TAC		0.652	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		Nonsense_Mutation
LPIN1	23175	broad.mit.edu	37	2	11944604	11944604	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:11944604A>G	ENST00000256720.2	+	15	2054	c.1961A>G	c.(1960-1962)cAg>cGg	p.Q654R	LPIN1_ENST00000396097.1_Missense_Mutation_p.Q384R|LPIN1_ENST00000425416.2_Missense_Mutation_p.Q660R|LPIN1_ENST00000449576.2_Missense_Mutation_p.Q739R|LPIN1_ENST00000396099.1_Missense_Mutation_p.Q696R|LPIN1_ENST00000404113.2_Missense_Mutation_p.Q155R	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	654	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.Q654R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GTCACCACGCAGTACCAAGGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	2											116.0	102.0	107.0					2																	11944604		2203	4300	6503	11862055	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1961A>G	2.37:g.11944604A>G	ENSP00000256720:p.Gln654Arg		11862055	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148788	0.78001	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	D;T;T;T;T;T;T	0.81579	-1.51;-1.49;-1.48;-1.48;-1.32;-0.12;0.31	4.75	4.75	0.60458	.	0.050518	0.85682	D	0.000000	D	0.87184	0.6114	L	0.58583	1.82	0.80722	D	1	D;D;B	0.76494	0.999;0.999;0.057	D;D;B	0.91635	0.967;0.999;0.053	D	0.87155	0.2211	10	0.45353	T	0.12	-27.2587	14.9748	0.71264	1.0:0.0:0.0:0.0	.	155;739;654	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	R	739;696;660;654;384;155;181	ENSP00000397908:Q739R;ENSP00000379406:Q696R;ENSP00000401522:Q660R;ENSP00000256720:Q654R;ENSP00000379404:Q384R;ENSP00000386120:Q155R;ENSP00000413714:Q181R	ENSP00000256720:Q654R	Q	+	2	0	LPIN1	11862055	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	8.839000	0.92120	2.090000	0.63153	0.533000	0.62120	CAG		0.463	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		Missense_Mutation
CD8A	925	broad.mit.edu	37	2	87017544	87017544	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:87017544C>T	ENST00000409511.2	-	5	1340	c.310G>A	c.(310-312)Gac>Aac	p.D104N	CD8A_ENST00000283635.3_Missense_Mutation_p.D104N|CD8A_ENST00000352580.3_Missense_Mutation_p.D104N|CD8A_ENST00000409781.1_Missense_Mutation_p.D104N|CD8A_ENST00000456996.2_Missense_Mutation_p.D104N|CD8A_ENST00000538832.1_Missense_Mutation_p.D145N	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	104	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.D104N(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CGGCGGAAGTCGCTCAGGGTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											61.0	67.0	65.0					2																	87017544		2203	4300	6503	86871055	SO:0001583	missense	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.310G>A	2.37:g.87017544C>T	ENSP00000386559:p.Asp104Asn		86871055	B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	CCDS1992.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.348045	0.05208	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	4.69	-9.38	0.00623	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	4.468150	0.00166	N	0.000000	T	0.30008	0.0751	N	0.13235	0.315	0.09310	N	1	P;B;B	0.41947	0.766;0.001;0.032	B;B;B	0.31290	0.127;0.0;0.002	T	0.46735	-0.9170	10	0.02654	T	1	9.0E-4	7.0182	0.24900	0.0663:0.2856:0.0938:0.5544	.	145;104;104	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	N	104;104;104;104;89;145;104	ENSP00000398868:D104N;ENSP00000321631:D104N;ENSP00000283635:D104N;ENSP00000386559:D104N;ENSP00000438371:D145N;ENSP00000387314:D104N	ENSP00000283635:D104N	D	-	1	0	CD8A	86871055	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.943000	0.00167	-3.858000	0.00098	-0.304000	0.09214	GAC		0.617	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		Missense_Mutation
ARHGAP15	55843	broad.mit.edu	37	2	144193179	144193179	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:144193179G>T	ENST00000295095.6	+	7	651	c.484G>T	c.(484-486)Gta>Tta	p.V162L	RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	162	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.V162L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	2											93.0	84.0	87.0					2																	144193179		2203	4299	6502	143909649	SO:0001583	missense	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.484G>T	2.37:g.144193179G>T	ENSP00000295095:p.Val162Leu		143909649	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801997	0.16397	.	.	ENSG00000075884	ENST00000295095	T	0.74947	-0.89	5.47	0.932	0.19466	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.242940	0.05219	N	0.508190	T	0.65123	0.2661	L	0.42744	1.35	0.26967	N	0.965679	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.42999	-0.9418	10	0.26408	T	0.33	.	5.8033	0.18426	0.1643:0.0:0.3058:0.5299	.	162;162	B4E0R3;Q53QZ3	.;RHG15_HUMAN	L	162	ENSP00000295095:V162L	ENSP00000295095:V162L	V	+	1	0	ARHGAP15	143909649	0.993000	0.37304	0.650000	0.29550	0.867000	0.49689	0.887000	0.28254	-0.061000	0.13110	-0.188000	0.12872	GTA		0.299	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179427935	179427935	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:179427935A>G	ENST00000591111.1	-	276	78225	c.78001T>C	c.(78001-78003)Tat>Cat	p.Y26001H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y18769H|TTN_ENST00000359218.5_Missense_Mutation_p.Y18702H|TTN_ENST00000460472.2_Missense_Mutation_p.Y18577H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y25074H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y27642H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26001	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y25072H(1)|p.Y18577H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGAAGTTATATTCAGTGTTT	0.463																																																2	Substitution - Missense(2)	ovary(2)	2											150.0	152.0	151.0					2																	179427935		1998	4162	6160	179136181	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78001T>C	2.37:g.179427935A>G	ENSP00000465570:p.Tyr26001His		179136181	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250683	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97275	0.9109	H	0.99619	4.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99146	1.0857	9	0.87932	D	0	.	15.4331	0.75121	1.0:0.0:0.0:0.0	.	18577;18702;18769;26001	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	25074;18577;18769;18702;18575	ENSP00000343764:Y25074H;ENSP00000434586:Y18577H;ENSP00000340554:Y18769H;ENSP00000352154:Y18702H	ENSP00000340554:Y18769H	Y	-	1	0	TTN	179136181	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.061000	0.61500	0.379000	0.24179	TAT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
SGOL2	151246	broad.mit.edu	37	2	201438387	201438387	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:201438387G>T	ENST00000357799.4	+	7	3416	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1106					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.K1106N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCAGGGAAAGTCTACTGTAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											112.0	107.0	108.0					2																	201438387		1838	4082	5920	201146632	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3318G>T	2.37:g.201438387G>T	ENSP00000350447:p.Lys1106Asn		201146632	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980195	0.34942	.	.	ENSG00000163535	ENST00000357799	T	0.12361	2.69	5.3	0.948	0.19561	.	0.942678	0.08813	N	0.889982	T	0.13200	0.0320	L	0.34521	1.04	0.09310	N	1	P;P;P	0.41265	0.744;0.744;0.744	B;B;B	0.41619	0.361;0.361;0.211	T	0.29397	-1.0013	10	0.62326	D	0.03	1.3423	10.2543	0.43388	0.2334:0.0:0.7666:0.0	.	1106;1106;1106	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	1106	ENSP00000350447:K1106N	ENSP00000350447:K1106N	K	+	3	2	SGOL2	201146632	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.011000	0.14247	-0.145000	0.13849	AAG		0.363	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		Missense_Mutation
TNS1	7145	broad.mit.edu	37	2	218678419	218678419	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:218678419T>C	ENST00000171887.4	-	26	4990	c.4538A>G	c.(4537-4539)cAg>cGg	p.Q1513R	TNS1_ENST00000430930.1_Missense_Mutation_p.Q1492R|TNS1_ENST00000419504.1_Missense_Mutation_p.Q1500R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1513	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.Q1513R(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTTTTATTCTGCTGCATGAT	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											133.0	133.0	133.0					2																	218678419		2203	4300	6503	218386664	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4538A>G	2.37:g.218678419T>C	ENSP00000171887:p.Gln1513Arg		218386664	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207175	0.58343	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91843	-2.92;2.14;-2.85;-2.92	5.15	5.15	0.70609	SH2 motif (4);	0.070369	0.64402	D	0.000015	D	0.93697	0.7986	M	0.65975	2.015	0.80722	D	1	P;P;B	0.47604	0.743;0.898;0.07	P;P;B	0.57057	0.677;0.812;0.143	D	0.92920	0.6354	10	0.41790	T	0.15	.	11.1855	0.48653	0.0:0.0:0.1536:0.8464	.	1513;1492;1500	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	R	1513;651;1500;1492	ENSP00000171887:Q1513R;ENSP00000394171:Q651R;ENSP00000408724:Q1500R;ENSP00000406016:Q1492R	ENSP00000171887:Q1513R	Q	-	2	0	TNS1	218386664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.004000	0.40854	2.163000	0.67991	0.459000	0.35465	CAG		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		Missense_Mutation
UGT1A1	54658	broad.mit.edu	37	2	234526586	234526586	+	Nonsense_Mutation	SNP	C	C	G	rs200115254		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr2:234526586C>G	ENST00000373450.4	+	1	296	c.233C>G	c.(232-234)tCa>tGa	p.S78*		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	80					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAGACTTACTCAACCTCATAC	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	2											133.0	124.0	127.0					2																	234526586		2203	4300	6503	234191325	SO:0001587	stop_gained	54576			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.233C>G	2.37:g.234526586C>G	ENSP00000362549:p.Ser78*		234191325	A6NJC3|B8K286	Nonsense_Mutation	SNP	ENST00000373450.4	37	CCDS33402.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707344	0.68615	.	.	ENSG00000242366	ENST00000373450	.	.	.	3.96	-2.22	0.06952	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	.	.	.	X	78	.	ENSP00000362549:S78X	S	+	2	0	UGT1A8	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA		0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			Nonsense_Mutation
RIN2	54453	broad.mit.edu	37	20	19870273	19870273	+	Missense_Mutation	SNP	G	G	T	rs535994976		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr20:19870273G>T	ENST00000255006.6	+	2	324	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	RIN2_ENST00000440354.2_Missense_Mutation_p.G10C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	10					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.G10C(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGGCGCCCGCGGTCTGGACAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											20.0	25.0	23.0					20																	19870273		1858	4073	5931	19818273	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.175G>T	20.37:g.19870273G>T	ENSP00000255006:p.Gly59Cys		19818273	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258250	0.39896	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06528	3.29;3.29	6.08	-8.46	0.00942	.	0.771349	0.12236	N	0.487020	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.40175	-0.9577	9	.	.	.	0.087	2.1744	0.03858	0.4256:0.1692:0.2912:0.114	.	10;10	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	C	59;10	ENSP00000255006:G59C;ENSP00000391239:G10C	.	G	+	1	0	RIN2	19818273	0.000000	0.05858	0.045000	0.18777	0.995000	0.86356	-0.716000	0.04991	-0.940000	0.03705	-0.290000	0.09829	GGT		0.567	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			Missense_Mutation
FOXA2	3170	broad.mit.edu	37	20	22563750	22563750	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr20:22563750T>G	ENST00000377115.4	-	3	293	c.112A>C	c.(112-114)Aac>Cac	p.N38H	FOXA2_ENST00000419308.2_Missense_Mutation_p.N44H	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	38	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N38H(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TTCATGCCGTTCATCCCCAGG	0.672																																																1	Substitution - Missense(1)	ovary(1)	20											58.0	64.0	62.0					20																	22563750		2201	4299	6500	22511750	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.112A>C	20.37:g.22563750T>G	ENSP00000366319:p.Asn38His		22511750	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322541	0.60634	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	T;T;T	0.25749	1.78;1.78;1.78	3.89	3.89	0.44902	Fork-head N-terminal (1);	.	.	.	.	T	0.47451	0.1446	M	0.71581	2.175	0.54753	D	0.999987	D;D	0.76494	0.998;0.999	D;D	0.73708	0.967;0.981	T	0.48352	-0.9043	9	0.51188	T	0.08	.	12.5631	0.56293	0.0:0.0:0.0:1.0	.	38;44	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	H	38;38;44	ENSP00000366319:N38H;ENSP00000400341:N38H;ENSP00000315955:N44H	ENSP00000315955:N44H	N	-	1	0	FOXA2	22511750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.711000	0.61881	1.624000	0.50355	0.383000	0.25322	AAC		0.672	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			Missense_Mutation
NDUFV3	4731	broad.mit.edu	37	21	44329129	44329129	+	Nonstop_Mutation	SNP	T	T	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr21:44329129T>G	ENST00000340344.4	+	3	391	c.325T>G	c.(325-327)Tga>Gga	p.*109G	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Nonstop_Mutation_p.*474G	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)	p.*474G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		ACCTCGACACTGAGGGCCCTC	0.522																																																1	Nonstop extension(1)	ovary(1)	21											156.0	143.0	148.0					21																	44329129		2203	4300	6503	43202198	SO:0001578	stop_lost	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.325T>G	21.37:g.44329129T>G	ENSP00000342895:p.*109Glyext*5		43202198	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Nonstop_Mutation	SNP	ENST00000340344.4	37	CCDS33573.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720516	0.48728	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5679	0.84603	0.0:0.0:0.0:1.0	.	.	.	.	G	474;109;113	.	.	X	+	1	0	NDUFV3	43202198	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	6.897000	0.75671	2.312000	0.78011	0.524000	0.50904	TGA		0.522	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			Nonstop_Mutation
RFTN1	23180	broad.mit.edu	37	3	16358730	16358730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:16358730G>A	ENST00000334133.4	-	10	1614	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	RFTN1_ENST00000432519.1_Nonsense_Mutation_p.R412*|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	448					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.R448*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGGAGAATCGCCACTGAAAC	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	3											72.0	70.0	71.0					3																	16358730		2203	4300	6503	16333734	SO:0001587	stop_gained	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1342C>T	3.37:g.16358730G>A	ENSP00000334153:p.Arg448*		16333734	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Nonsense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	37	5.996026	0.97184	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	.	.	.	5.43	4.53	0.55603	.	0.207467	0.35349	N	0.003275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5365	11.4175	0.49960	0.0:0.0:0.6731:0.3269	.	.	.	.	X	412;448	.	ENSP00000334153:R448X	R	-	1	2	RFTN1	16333734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.515000	0.45512	1.375000	0.46248	0.563000	0.77884	CGA		0.438	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		Nonsense_Mutation
SCN11A	11280	broad.mit.edu	37	3	38941406	38941407	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:38941406_38941407TG>AT	ENST00000302328.3	-	13	2198_2199	c.2000_2001CA>AT	c.(1999-2001)cCA>cAT	p.P667H	SCN11A_ENST00000450244.1_Missense_Mutation_p.P667H|SCN11A_ENST00000444237.2_Missense_Mutation_p.P667H|SCN11A_ENST00000456224.3_Missense_Mutation_p.P667H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	667					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P667H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACGCAAGAATGGCCAGCTTCT	0.416																																																1	Substitution - Missense(1)	ovary(1)	3																																								38916411	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2000_2001delinsAT	3.37:g.38941406_38941407delinsAT	ENSP00000307599:p.Pro667His		38916410	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	DNP	ENST00000302328.3	37	CCDS33737.1	DNP	51	Broad																																																																																				0.416	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		Missense_Mutation
OR5H2	79310	broad.mit.edu	37	3	98001793	98001793	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:98001793G>A	ENST00000355273.2	+	1	62	c.62G>A	c.(61-63)gGa>gAa	p.G21E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G21E(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTTCTCACAGGACTTACATAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											243.0	230.0	234.0					3																	98001793		2203	4300	6503	99484483	SO:0001583	missense	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.62G>A	3.37:g.98001793G>A	ENSP00000347418:p.Gly21Glu		99484483	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380029	0.61845	.	.	ENSG00000197938	ENST00000355273	T	0.00655	5.95	3.2	3.2	0.36748	.	0.000000	0.38897	U	0.001522	T	0.05823	0.0152	M	0.92507	3.315	0.43110	D	0.994811	D	0.89917	1.0	D	0.97110	1.0	T	0.02683	-1.1124	10	0.87932	D	0	.	12.205	0.54346	0.0:0.0:1.0:0.0	.	21	Q8NGV7	OR5H2_HUMAN	E	21	ENSP00000347418:G21E	ENSP00000347418:G21E	G	+	2	0	OR5H2	99484483	1.000000	0.71417	0.994000	0.49952	0.656000	0.38851	7.904000	0.87408	1.787000	0.52448	0.543000	0.68304	GGA		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			Missense_Mutation
MORC1	27136	broad.mit.edu	37	3	108822695	108822695	+	Splice_Site	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:108822695C>A	ENST00000483760.1	-	4	267		c.e4+1		MORC1_ENST00000232603.5_Splice_Site|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1									p.?(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTAACTTACCAGGGCTCAT	0.363																																																1	Unknown(1)	ovary(1)	3											105.0	104.0	104.0					3																	108822695		2203	4300	6503	110305385	SO:0001630	splice_region_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.223+1G>T	3.37:g.108822695C>A			110305385		Splice_Site_SNP	SNP	ENST00000483760.1	37		SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086876	0.76642	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7355	0.85446	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC1	110305385	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.571000	0.67404	2.821000	0.97095	0.484000	0.47621	.		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		Intron	Splice_Site_SNP
SLCO2A1	6578	broad.mit.edu	37	3	133654647	133654647	+	Silent	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:133654647G>C	ENST00000310926.4	-	13	2058	c.1785C>G	c.(1783-1785)gcC>gcG	p.A595A	SLCO2A1_ENST00000493729.1_Silent_p.A519A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	595					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.A595A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TGTCATAGTAGGCGCAGGCCC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	3											77.0	66.0	70.0					3																	133654647		2203	4300	6503	135137337	SO:0001819	synonymous_variant	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1785C>G	3.37:g.133654647G>C			135137337	Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	CCDS3084.1	SNP	35	Broad																																																																																				0.597	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		Silent
P2RY1	5028	broad.mit.edu	37	3	152553610	152553610	+	Silent	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:152553610G>A	ENST00000305097.3	+	1	875	c.39G>A	c.(37-39)acG>acA	p.T13T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	13					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.T13T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CCAACGGGACGGACGCTGCCT	0.687																																																1	Substitution - coding silent(1)	ovary(1)	3											23.0	24.0	24.0					3																	152553610		2203	4299	6502	154036300	SO:0001819	synonymous_variant	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.39G>A	3.37:g.152553610G>A			154036300		Silent	SNP	ENST00000305097.3	37	CCDS3169.1	SNP	39	Broad																																																																																				0.687	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		Silent
MFN1	55669	broad.mit.edu	37	3	179066743	179066743	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:179066743T>A	ENST00000471841.1	+	2	230	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	MFN1_ENST00000263969.5_Missense_Mutation_p.F35Y|MFN1_ENST00000280653.7_Missense_Mutation_p.F35Y	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	35					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F35Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGATCACATTTTGTTGAAGGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											173.0	170.0	171.0					3																	179066743		2203	4300	6503	180549437	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.104T>A	3.37:g.179066743T>A	ENSP00000420617:p.Phe35Tyr		180549437	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806607	0.70682	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.99839	-6.14;-7.07;-5.31;-6.14	4.26	4.26	0.50523	.	0.113912	0.64402	D	0.000009	D	0.99603	0.9856	M	0.69185	2.1	0.58432	D	0.999999	D;D	0.69078	0.997;0.988	P;P	0.57679	0.825;0.769	D	0.97582	1.0111	10	0.52906	T	0.07	-12.5762	13.6784	0.62469	0.0:0.0:0.0:1.0	.	63;35	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	Y	35	ENSP00000420617:F35Y;ENSP00000280653:F35Y;ENSP00000419134:F35Y;ENSP00000263969:F35Y	ENSP00000263969:F35Y	F	+	2	0	MFN1	180549437	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.590000	0.82653	1.687000	0.51057	0.477000	0.44152	TTT		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		Missense_Mutation
EHHADH	1962	broad.mit.edu	37	3	184910746	184910746	+	Silent	SNP	C	C	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:184910746C>G	ENST00000231887.3	-	7	1515	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	EHHADH_ENST00000456310.1_Silent_p.V384V|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	480	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.V480V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTCGATTCCCCACAAATCCAA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	3											108.0	109.0	109.0					3																	184910746		2203	4300	6503	186393440	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1440G>C	3.37:g.184910746C>G			186393440	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	CCDS33901.1	SNP	21	Broad																																																																																				0.413	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			Silent
MASP1	5648	broad.mit.edu	37	3	186974476	186974476	+	Silent	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr3:186974476C>A	ENST00000337774.5	-	5	1109	c.720G>T	c.(718-720)gtG>gtT	p.V240V	MASP1_ENST00000392470.2_Silent_p.V214V|MASP1_ENST00000392472.2_Silent_p.V127V|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Silent_p.V240V|MASP1_ENST00000169293.6_Silent_p.V240V	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	240	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.V240V(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGGGCAGGGCACCTCAGGAT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	3											159.0	129.0	139.0					3																	186974476		2203	4300	6503	188457170	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.720G>T	3.37:g.186974476C>A			188457170	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1	SNP	25	Broad																																																																																				0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		Silent
BOD1L1	259282	broad.mit.edu	37	4	13603693	13603693	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:13603693T>C	ENST00000040738.5	-	10	4966	c.4831A>G	c.(4831-4833)Aag>Gag	p.K1611E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1611						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1611E(1)									TCCCCTTCCTTAGTGCTTGTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	4											82.0	81.0	82.0					4																	13603693		2203	4300	6503	13212791	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4831A>G	4.37:g.13603693T>C	ENSP00000040738:p.Lys1611Glu		13212791	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	SNP	61	Broad	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777894	0.70107	.	.	ENSG00000038219	ENST00000040738	T	0.11385	2.78	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000022	T	0.21145	0.0509	L	0.36672	1.1	0.34984	D	0.754387	D	0.76494	0.999	D	0.78314	0.991	T	0.18524	-1.0334	10	0.54805	T	0.06	-9.426	9.8253	0.40908	0.0:0.0809:0.0:0.9191	.	1611	Q8NFC6	BOD1L_HUMAN	E	1611	ENSP00000040738:K1611E	ENSP00000040738:K1611E	K	-	1	0	BOD1L	13212791	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.325000	0.52030	1.965000	0.57142	0.528000	0.53228	AAG		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		Missense_Mutation
ZCCHC4	29063	broad.mit.edu	37	4	25334974	25334974	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:25334974A>C	ENST00000302874.4	+	4	523	c.499A>C	c.(499-501)Aag>Cag	p.K167Q	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	167							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K167Q(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ACTGGAAAACAAGAAGACAAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	4											130.0	124.0	126.0					4																	25334974		1893	4107	6000	24944072	SO:0001583	missense	29063			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.499A>C	4.37:g.25334974A>C	ENSP00000303468:p.Lys167Gln		24944072	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	SNP	5	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.317249|4.317249	0.81469|0.81469	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874|ENST00000505412	T|.	0.22743|.	1.94|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73401|0.73401	0.3582|0.3582	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	P|.	0.56163|.	0.793|.	T|T	0.72766|0.72766	-0.4194|-0.4194	10|5	0.45353|.	T|.	0.12|.	-9.7747|-9.7747	16.1832|16.1832	0.81925|0.81925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	167|.	Q9H5U6|.	ZCHC4_HUMAN|.	Q|P	167|31	ENSP00000303468:K167Q|.	ENSP00000303468:K167Q|.	K|Q	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24944072|24944072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.847000|8.847000	0.92166|0.92166	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.468	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			Missense_Mutation
ARAP2	116984	broad.mit.edu	37	4	36230420	36230421	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:36230420_36230421CC>AT	ENST00000303965.4	-	2	1177_1178	c.688_689GG>AT	c.(688-690)GGa>ATa	p.G230I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	230					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.G230I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTTCCATTTCCAGAATTTGTT	0.361																																																1	Substitution - Missense(1)	ovary(1)	4																																								35906816	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.688_689delinsAT	4.37:g.36230420_36230421delinsAT	ENSP00000302895:p.Gly230Ile		35906815	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	DNP	ENST00000303965.4	37	CCDS3441.1	DNP	30	Broad																																																																																				0.361	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		Missense_Mutation
ARAP2	116984	broad.mit.edu	37	4	36230974	36230974	+	Silent	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:36230974C>T	ENST00000303965.4	-	2	624	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	45	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.L45L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTGCAGCAGGCTGTCAT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	4											67.0	69.0	68.0					4																	36230974		2203	4300	6503	35907369	SO:0001819	synonymous_variant	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.135G>A	4.37:g.36230974C>T			35907369	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1	SNP	25	Broad																																																																																				0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		Silent
SLC9B1	150159	broad.mit.edu	37	4	103870433	103870433	+	Silent	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:103870433A>G	ENST00000296422.7	-	4	504	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SLC9B1_ENST00000394789.3_Silent_p.P121P	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	121					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.P121P(1)									GTGGAAGTGGAGGCACTAAAG	0.308																																																1	Substitution - coding silent(1)	ovary(1)	4											42.0	46.0	45.0					4																	103870433		2186	4272	6458	104089882	SO:0001819	synonymous_variant	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.363T>C	4.37:g.103870433A>G			104089882	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1	SNP	11	Broad																																																																																				0.308	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		Silent
DKK2	27123	broad.mit.edu	37	4	107846995	107846995	+	Missense_Mutation	SNP	G	G	C	rs528677483		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:107846995G>C	ENST00000285311.3	-	2	1039	c.334C>G	c.(334-336)Cga>Gga	p.R112G	DKK2_ENST00000513208.1_Missense_Mutation_p.R12G|DKK2_ENST00000510463.1_Missense_Mutation_p.R66G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|lung(1)	4											177.0	162.0	167.0					4																	107846995		2203	4300	6503	108066444	SO:0001583	missense	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.334C>G	4.37:g.107846995G>C	ENSP00000285311:p.Arg112Gly		108066444	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437691	0.62955	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.60672	0.17;0.39;0.32	5.42	-2.84	0.05751	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.79011	2.435	0.34883	D	0.744787	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.993	T	0.83150	-0.0104	10	0.87932	D	0	-15.7364	19.6666	0.95895	0.0:0.0:0.6583:0.3417	.	112;112	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	G	112;12;66	ENSP00000285311:R112G;ENSP00000421255:R12G;ENSP00000423797:R66G	ENSP00000285311:R112G	R	-	1	2	DKK2	108066444	0.905000	0.30787	0.213000	0.23690	0.983000	0.72400	1.314000	0.33597	-0.155000	0.11098	0.467000	0.42956	CGA		0.493	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			Missense_Mutation
FGA	2243	broad.mit.edu	37	4	155505781	155505781	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:155505781A>T	ENST00000302053.3	-	6	2174	c.2096T>A	c.(2095-2097)cTg>cAg	p.L699Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	699	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.L699Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTCGTCATTCAGGCTGCCGAA	0.493																																					NSCLC(143;340 1922 20892 22370 48145)											1	Substitution - Missense(1)	ovary(1)	4											107.0	101.0	103.0					4																	155505781		2203	4300	6503	155725231	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2096T>A	4.37:g.155505781A>T	ENSP00000306361:p.Leu699Gln		155725231	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741774	0.69304	.	.	ENSG00000171560	ENST00000302053	T	0.79247	-1.25	5.81	4.61	0.57282	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.329619	0.31976	N	0.006778	T	0.73179	0.3554	L	0.47190	1.495	0.80722	D	1	P	0.43938	0.822	B	0.42163	0.378	T	0.74763	-0.3555	10	0.87932	D	0	.	12.2068	0.54356	0.8721:0.0:0.0:0.1279	.	699	P02671	FIBA_HUMAN	Q	699	ENSP00000306361:L699Q	ENSP00000306361:L699Q	L	-	2	0	FGA	155725231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.292000	0.72725	0.989000	0.38761	0.528000	0.53228	CTG		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		Missense_Mutation
FSTL5	56884	broad.mit.edu	37	4	162402181	162402181	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:162402181T>A	ENST00000306100.5	-	13	2035	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	FSTL5_ENST00000379164.4_Missense_Mutation_p.K532N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K523N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K532N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	533						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K533N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTGAACAACTTTTTGGGACT	0.333																																																1	Substitution - Missense(1)	ovary(1)	4																																								162621631	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1599A>T	4.37:g.162402181T>A	ENSP00000305334:p.Lys533Asn		162621631	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738184	0.69304	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.8	1.96	0.26148	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76574	2.34	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.997;0.994	P;P;P	0.62382	0.879;0.901;0.829	T	0.35500	-0.9786	10	0.49607	T	0.09	.	9.1795	0.37131	0.0:0.208:0.0:0.792	.	523;532;533	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	533;532;523;532	ENSP00000305334:K533N;ENSP00000368462:K532N;ENSP00000389270:K523N;ENSP00000440409:K532N	ENSP00000305334:K533N	K	-	3	2	FSTL5	162621631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.907000	0.28531	0.111000	0.17947	0.528000	0.53228	AAA		0.333	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		Missense_Mutation
TARS	6897	broad.mit.edu	37	5	33445499	33445499	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr5:33445499G>A	ENST00000265112.3	+	2	438	c.127G>A	c.(127-129)Ggt>Agt	p.G43S	TARS_ENST00000502553.1_Missense_Mutation_p.G43S|TARS_ENST00000455217.2_Missense_Mutation_p.G43S|TARS_ENST00000541634.1_Silent_p.E2E|TARS_ENST00000414361.2_5'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	43					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.G43S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGAGATGGAGGTCGAGCTGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											103.0	101.0	102.0					5																	33445499		2203	4300	6503	33481256	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.127G>A	5.37:g.33445499G>A	ENSP00000265112:p.Gly43Ser		33481256	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466471	0.63625	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217	T;T;T;T	0.45668	0.98;0.89;0.98;0.92	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	T	0.50491	-0.8822	10	0.12430	T	0.62	-25.4839	17.5737	0.87942	0.0:0.0:1.0:0.0	.	43;43	B4DEG8;P26639	.;SYTC_HUMAN	S	43	ENSP00000424387:G43S;ENSP00000422130:G43S;ENSP00000265112:G43S;ENSP00000387710:G43S	ENSP00000265112:G43S	G	+	1	0	TARS	33481256	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.040000	0.64191	2.560000	0.86352	0.563000	0.77884	GGT		0.403	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		Missense_Mutation
C7	730	broad.mit.edu	37	5	40964847	40964847	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr5:40964847A>C	ENST00000313164.9	+	14	2113	c.1754A>C	c.(1753-1755)gAa>gCa	p.E585A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	585	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E585A(1)					Ovarian(839;0.0112)				GTTTAGGATGAAGGTACAATG	0.343																																																1	Substitution - Missense(1)	ovary(1)	5											139.0	138.0	138.0					5																	40964847		1854	4102	5956	41000604	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1754A>C	5.37:g.40964847A>C	ENSP00000322061:p.Glu585Ala		41000604	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475185	0.26511	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.64260	-0.09	6.17	5.06	0.68205	Complement control module (2);Sushi/SCR/CCP (3);	0.379952	0.29668	N	0.011504	T	0.47746	0.1462	L	0.33189	0.99	0.29291	N	0.869363	B	0.15141	0.012	B	0.15052	0.012	T	0.34129	-0.9841	10	0.15066	T	0.55	-11.741	11.421	0.49982	0.6391:0.3609:0.0:0.0	.	585	P10643	CO7_HUMAN	A	585;425	ENSP00000322061:E585A	ENSP00000322061:E585A	E	+	2	0	C7	41000604	1.000000	0.71417	0.470000	0.27216	0.616000	0.37450	3.582000	0.53921	2.371000	0.80710	0.533000	0.62120	GAA		0.343	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			Missense_Mutation
RREB1	6239	broad.mit.edu	37	6	7240715	7240715	+	Intron	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:7240715A>G	ENST00000349384.6	+	11	4122				RREB1_ENST00000379933.3_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.T1285A|RREB1_ENST00000334984.6_Missense_Mutation_p.T1285A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCTTTTCTACCAAATCTAA	0.423																																																0			6											120.0	116.0	117.0					6																	7240715		2203	4300	6503	7185714	SO:0001627	intron_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5942A>G	6.37:g.7240715A>G			7185714	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	SNP	14	Broad	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945560	0.73672	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	T;T	0.22539	1.95;1.95	5.17	5.17	0.71159	.	.	.	.	.	T	0.32315	0.0825	M	0.69823	2.125	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.08722	-1.0708	9	0.17832	T	0.49	-48.5737	15.1796	0.72945	1.0:0.0:0.0:0.0	.	1285;1285	Q92766-3;Q92766-2	.;.	A	1285	ENSP00000369270:T1285A;ENSP00000335574:T1285A	ENSP00000335574:T1285A	T	+	1	0	RREB1	7185714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.514000	0.73746	2.167000	0.68274	0.528000	0.53228	ACC		0.423	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			Missense_Mutation
TRIM10	10107	broad.mit.edu	37	6	30121774	30121774	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:30121774C>T	ENST00000449742.2	-	7	1493	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	473	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R473Q(1)		ovary(1)	1						ACTGGACCCTCGGCCCCAGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	6											85.0	91.0	89.0					6																	30121774		1508	2708	4216	30229753	SO:0001583	missense	10107			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1418G>A	6.37:g.30121774C>T	ENSP00000397073:p.Arg473Gln		30229753	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177335	0.78564	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.60920	0.15	6.01	6.01	0.97437	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.42053	D	0.000774	T	0.42314	0.1197	N	0.13043	0.29	0.80722	D	1	D	0.63046	0.992	P	0.57776	0.827	T	0.29274	-1.0017	10	0.13470	T	0.59	.	16.026	0.80545	0.0:1.0:0.0:0.0	.	473	Q9UDY6	TRI10_HUMAN	Q	473	ENSP00000397073:R473Q	ENSP00000365896:R473Q	R	-	2	0	TRIM10	30229753	0.551000	0.26497	1.000000	0.80357	0.855000	0.48748	1.644000	0.37228	2.845000	0.97973	0.643000	0.83706	CGA		0.547	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			Missense_Mutation
VARS2	57176	broad.mit.edu	37	6	30890956	30890956	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:30890956G>T	ENST00000321897.5	+	23	2893	c.2261G>T	c.(2260-2262)cGc>cTc	p.R754L	VARS2_ENST00000416670.2_Missense_Mutation_p.R754L|VARS2_ENST00000542001.1_Missense_Mutation_p.R614L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.R784L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	754					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R754L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AATGCTCTTCGCTTTATCCTC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											110.0	120.0	117.0					6																	30890956		1510	2708	4218	30998935	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2261G>T	6.37:g.30890956G>T	ENSP00000316092:p.Arg754Leu		30998935	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990592	0.74589	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.24	5.24	0.73138	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.103673	0.64402	D	0.000008	T	0.47340	0.1440	H	0.94385	3.53	0.46396	D	0.999029	P;D;D;D	0.76494	0.947;0.998;0.999;0.991	P;D;D;P	0.73380	0.791;0.955;0.98;0.664	T	0.59590	-0.7426	10	0.87932	D	0	-22.003	10.1833	0.42982	0.0915:0.0:0.9085:0.0	.	192;752;784;754	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	754;754;614;784	ENSP00000316092:R754L;ENSP00000394802:R754L;ENSP00000438200:R614L;ENSP00000441000:R784L	ENSP00000316092:R754L	R	+	2	0	VARS2	30998935	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.224000	0.51238	2.618000	0.88619	0.462000	0.41574	CGC		0.517	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		Missense_Mutation
TFEB	7942	broad.mit.edu	37	6	41655674	41655674	+	Silent	SNP	C	C	G	rs202071361		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:41655674C>G	ENST00000230323.4	-	6	943	c.642G>C	c.(640-642)gcG>gcC	p.A214A	TFEB_ENST00000403298.4_Silent_p.A214A|TFEB_ENST00000373033.1_Silent_p.A214A|TFEB_ENST00000394283.1_Silent_p.A214A|TFEB_ENST00000358871.2_Silent_p.A228A|TFEB_ENST00000420312.1_Silent_p.A129A	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	214					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A214A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGTCAGGTCCGCAGGGCAGG	0.637			T	ALPHA	renal (childhood epithelioid)																																		Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	1	Substitution - coding silent(1)	ovary(1)	6											78.0	75.0	76.0					6																	41655674		2203	4300	6503	41763652	SO:0001819	synonymous_variant	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.642G>C	6.37:g.41655674C>G			41763652	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	CCDS4858.1	SNP	23	Broad																																																																																				0.637	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			Silent
BAI3	577	broad.mit.edu	37	6	70071237	70071237	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:70071237C>A	ENST00000370598.1	+	29	4893	c.4072C>A	c.(4072-4074)Cag>Aag	p.Q1358K	BAI3_ENST00000546190.1_Missense_Mutation_p.Q322K|BAI3_ENST00000238918.8_Missense_Mutation_p.Q564K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1358					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q1358K(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTAATGGACCAGTTCAATAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											107.0	109.0	109.0					6																	70071237		2203	4300	6503	70127958	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4072C>A	6.37:g.70071237C>A	ENSP00000359630:p.Gln1358Lys		70127958	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352979	0.24512	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05319	3.46;3.46;3.46	5.8	5.8	0.92144	.	0.051390	0.85682	D	0.000000	T	0.03136	0.0092	L	0.38175	1.15	0.48452	D	0.999658	B;B	0.29037	0.231;0.02	B;B	0.24541	0.054;0.01	T	0.49826	-0.8898	10	0.19590	T	0.45	.	20.1141	0.97919	0.0:1.0:0.0:0.0	.	564;1358	B7Z356;O60242	.;BAI3_HUMAN	K	1358;564;322	ENSP00000359630:Q1358K;ENSP00000238918:Q564K;ENSP00000441821:Q322K	ENSP00000238918:Q564K	Q	+	1	0	BAI3	70127958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.766000	0.95052	0.650000	0.86243	CAG		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			Missense_Mutation
PTPRK	5796	broad.mit.edu	37	6	128298168	128298168	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:128298168G>T	ENST00000368215.3	-	26	3739	c.3740C>A	c.(3739-3741)aCa>aAa	p.T1247K	PTPRK_ENST00000368227.3_Missense_Mutation_p.T1265K|PTPRK_ENST00000368213.5_Missense_Mutation_p.T1254K|PTPRK_ENST00000368226.4_Missense_Mutation_p.T1248K|PTPRK_ENST00000368207.3_Missense_Mutation_p.T1280K|PTPRK_ENST00000368210.3_Missense_Mutation_p.T1266K|PTPRK_ENST00000532331.1_Missense_Mutation_p.T1270K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1247	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1248K(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGGTATTGTGTGACGATGAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	6											143.0	129.0	134.0					6																	128298168		2203	4300	6503	128339861	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3740C>A	6.37:g.128298168G>T	ENSP00000357198:p.Thr1247Lys		128339861	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	31	5.088155	0.94100	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.69	5.69	0.88448	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.98951	4.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;1.0;0.997;0.994	D	0.97742	1.0209	10	0.87932	D	0	.	20.1608	0.98132	0.0:0.0:1.0:0.0	.	1270;1254;1247;1248	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	K	1248;1265;1270;1254;1266;1247;1280	ENSP00000357209:T1248K;ENSP00000357210:T1265K;ENSP00000432973:T1270K;ENSP00000357196:T1254K;ENSP00000357193:T1266K;ENSP00000357198:T1247K;ENSP00000357190:T1280K	ENSP00000357190:T1280K	T	-	2	0	PTPRK	128339861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.843000	0.97960	0.591000	0.81541	ACA		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			Missense_Mutation
UTRN	7402	broad.mit.edu	37	6	144772594	144772594	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr6:144772594A>G	ENST00000367545.3	+	17	2161	c.2161A>G	c.(2161-2163)Atg>Gtg	p.M721V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	721	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.M721V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTATATGAAGATGCAAGACAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											100.0	95.0	96.0					6																	144772594		2203	4300	6503	144814287	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2161A>G	6.37:g.144772594A>G	ENSP00000356515:p.Met721Val		144814287	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	5.694	0.312636	0.10789	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58797	0.31	5.99	4.81	0.61882	.	0.374408	0.22871	N	0.054632	T	0.29158	0.0725	L	0.36672	1.1	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.09122	-1.0689	10	0.26408	T	0.33	.	12.2395	0.54534	0.8689:0.0:0.0:0.1311	.	721	P46939	UTRO_HUMAN	V	721	ENSP00000356515:M721V	ENSP00000356499:M721V	M	+	1	0	UTRN	144814287	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	3.628000	0.54259	1.048000	0.40298	0.533000	0.62120	ATG		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			Missense_Mutation
GPER1	2852	broad.mit.edu	37	7	1131801	1131801	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr7:1131801T>A	ENST00000297469.3	+	2	1128	c.437T>A	c.(436-438)tTc>tAc	p.F146Y	GPER1_ENST00000397088.3_Missense_Mutation_p.F146Y|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.F146Y|GPER1_ENST00000401670.1_Missense_Mutation_p.F146Y	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	146				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)	p.F146Y(1)									AGCAGCGTCTTCTTCCTCACC	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											139.0	101.0	114.0					7																	1131801		2203	4300	6503	1098327	SO:0001583	missense	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.437T>A	7.37:g.1131801T>A	ENSP00000297469:p.Phe146Tyr		1098327	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	CCDS5322.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032586	0.93575	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.61417	-0.7067	10	0.66056	D	0.02	-31.8486	14.3613	0.66773	0.0:0.0:0.0:1.0	.	146	Q99527	GPER_HUMAN	Y	146	ENSP00000385151:F146Y;ENSP00000380281:F146Y;ENSP00000297469:F146Y;ENSP00000380277:F146Y	ENSP00000297469:F146Y	F	+	2	0	GPER	1098327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	1.996000	0.58369	0.523000	0.50628	TTC		0.607	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		Missense_Mutation
CDK13	8621	broad.mit.edu	37	7	40127843	40127843	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr7:40127843G>T	ENST00000181839.4	+	12	3753	c.3148G>T	c.(3148-3150)Ggc>Tgc	p.G1050C	CDK13_ENST00000340829.5_Missense_Mutation_p.G1050C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1050					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.G1050C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTTGTCTCTGGGCTTGGATGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											91.0	83.0	86.0					7																	40127843		2203	4300	6503	40094368	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3148G>T	7.37:g.40127843G>T	ENSP00000181839:p.Gly1050Cys		40094368	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942456	0.92526	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.73047	-0.71;-0.63	5.43	5.43	0.79202	.	.	.	.	.	T	0.81903	0.4921	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.939	T	0.79657	-0.1712	8	.	.	.	-10.8689	19.6396	0.95753	0.0:0.0:1.0:0.0	.	1050;1050	Q14004-2;Q14004	.;CDK13_HUMAN	C	1050	ENSP00000181839:G1050C;ENSP00000340557:G1050C	.	G	+	1	0	CDK13	40094368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.718000	0.92993	0.650000	0.86243	GGC		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		Missense_Mutation
MUC17	140453	broad.mit.edu	37	7	100686648	100686648	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr7:100686648C>A	ENST00000306151.4	+	3	12015	c.11951C>A	c.(11950-11952)tCt>tAt	p.S3984Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3984					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3984Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACCACATCTTTTTCAACT	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											140.0	138.0	139.0					7																	100686648		2203	4300	6503	100473368	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11951C>A	7.37:g.100686648C>A	ENSP00000302716:p.Ser3984Tyr		100473368	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	c	8.106	0.777676	0.16120	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	1.43	-1.99	0.07457	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	P	0.42078	0.77	P	0.46253	0.509	T	0.46034	-0.9220	9	0.24483	T	0.36	.	2.8449	0.05540	0.3061:0.3887:0.3052:0.0	.	3984	Q685J3	MUC17_HUMAN	Y	3984	ENSP00000302716:S3984Y	ENSP00000302716:S3984Y	S	+	2	0	MUC17	100473368	0.000000	0.05858	0.007000	0.13788	0.536000	0.34869	-0.249000	0.08842	-0.108000	0.12066	0.424000	0.28305	TCT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		Missense_Mutation
ZNF777	27153	broad.mit.edu	37	7	149129558	149129558	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr7:149129558C>A	ENST00000247930.4	-	6	2128	c.1805G>T	c.(1804-1806)tGc>tTc	p.C602F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	602					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.C602F(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGTGAGACGCAGCCTCCGCG	0.677																																																1	Substitution - Missense(1)	ovary(1)	7											56.0	63.0	60.0					7																	149129558		2192	4286	6478	148760491	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1805G>T	7.37:g.149129558C>A	ENSP00000247930:p.Cys602Phe		148760491	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.229171	0.01518	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05139	3.49	4.49	0.793	0.18632	.	0.432095	0.19669	N	0.108791	T	0.02047	0.0064	N	0.01202	-0.96	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.43782	-0.9370	10	0.40728	T	0.16	-5.5987	6.2344	0.20754	0.0:0.3324:0.0:0.6676	.	602	Q9ULD5-2	.	F	602;345	ENSP00000247930:C602F	ENSP00000247930:C602F	C	-	2	0	ZNF777	148760491	0.000000	0.05858	0.450000	0.26969	0.056000	0.15407	-1.211000	0.02997	-0.014000	0.14175	-0.384000	0.06662	TGC		0.677	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		Missense_Mutation
KMT2C	58508	broad.mit.edu	37	7	151878644	151878644	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr7:151878644G>C	ENST00000262189.6	-	36	6519	c.6301C>G	c.(6301-6303)Cca>Gca	p.P2101A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2101A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2101	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P2101A(1)									GCTGGATGTGGGGTAAGGGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	7											94.0	94.0	94.0					7																	151878644		2203	4300	6503	151509577	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6301C>G	7.37:g.151878644G>C	ENSP00000262189:p.Pro2101Ala		151509577	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	5.365	0.252637	0.10185	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.96619	-4.02;-4.07	5.38	4.5	0.54988	.	0.000000	0.44688	D	0.000425	D	0.97579	0.9207	M	0.72894	2.215	0.80722	D	1	P;D	0.89917	0.91;1.0	B;D	0.85130	0.388;0.997	D	0.97948	1.0330	10	0.72032	D	0.01	.	13.3327	0.60497	0.0:0.0:0.7127:0.2873	.	2101;1162	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	2101	ENSP00000262189:P2101A;ENSP00000347325:P2101A	ENSP00000262189:P2101A	P	-	1	0	MLL3	151509577	1.000000	0.71417	0.443000	0.26883	0.076000	0.17211	5.530000	0.67141	1.275000	0.44379	-0.261000	0.10672	CCA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Missense_Mutation
MYOM2	9172	broad.mit.edu	37	8	2088796	2088796	+	Missense_Mutation	SNP	C	C	A	rs568923144		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:2088796C>A	ENST00000262113.4	+	33	4092	c.3951C>A	c.(3949-3951)gaC>gaA	p.D1317E	MYOM2_ENST00000523438.1_Missense_Mutation_p.D742E|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1317					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D1317E(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTCCCTTGACCTGTCCGGAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											85.0	78.0	80.0					8																	2088796		2203	4300	6503	2076203	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3951C>A	8.37:g.2088796C>A	ENSP00000262113:p.Asp1317Glu		2076203	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733794	0.48939	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.52526	0.66;0.83	5.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.57536	1.79	0.39744	D	0.971781	D	0.71674	0.998	P	0.58013	0.831	T	0.56408	-0.7984	10	0.46703	T	0.11	.	3.3123	0.07021	0.0:0.6091:0.0:0.3909	.	1317	P54296	MYOM2_HUMAN	E	1317;742	ENSP00000262113:D1317E;ENSP00000428396:D742E	ENSP00000262113:D1317E	D	+	3	2	MYOM2	2076203	1.000000	0.71417	0.994000	0.49952	0.211000	0.24417	1.821000	0.39041	2.385000	0.81259	0.563000	0.77884	GAC		0.393	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		Missense_Mutation
PTK2B	2185	broad.mit.edu	37	8	27303406	27303406	+	Silent	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:27303406G>T	ENST00000397501.1	+	29	3118	c.2310G>T	c.(2308-2310)cgG>cgT	p.R770R	PTK2B_ENST00000544172.1_Silent_p.R770R|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000346049.5_Silent_p.R770R|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000338238.4_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	770					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.R770R(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTCTCCACCGGCACAATGTCT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	8											139.0	123.0	129.0					8																	27303406		2203	4300	6503	27359323	SO:0001819	synonymous_variant	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2310G>T	8.37:g.27303406G>T			27359323	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	CCDS6057.1	SNP	42	Broad																																																																																				0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		Silent
KCNU1	157855	broad.mit.edu	37	8	36692362	36692362	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:36692362C>T	ENST00000399881.3	+	12	1308	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	424	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A424V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATTCCCATGCTGAAGATATT	0.388																																																1	Substitution - Missense(1)	ovary(1)	8											129.0	127.0	127.0					8																	36692362		1889	4116	6005	36811520	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1271C>T	8.37:g.36692362C>T	ENSP00000382770:p.Ala424Val		36811520		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	12.13	1.847090	0.32606	.	.	ENSG00000215262	ENST00000399881	T	0.37752	1.18	5.9	3.01	0.34805	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.422650	0.16743	U	0.201346	T	0.30355	0.0762	L	0.61218	1.895	0.80722	D	1	D	0.53619	0.961	B	0.36244	0.22	T	0.17623	-1.0363	10	0.72032	D	0.01	-3.7167	9.0239	0.36218	0.2675:0.6621:0.0:0.0704	.	424	A8MYU2	KCNU1_HUMAN	V	424	ENSP00000382770:A424V	ENSP00000382770:A424V	A	+	2	0	KCNU1	36811520	0.903000	0.30736	0.871000	0.34182	0.016000	0.09150	0.917000	0.28665	0.757000	0.33036	0.650000	0.86243	GCT		0.388	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		Missense_Mutation
GPR124	25960	broad.mit.edu	37	8	37697734	37697734	+	Silent	SNP	C	C	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:37697734C>G	ENST00000412232.2	+	17	2620	c.2607C>G	c.(2605-2607)ccC>ccG	p.P869P	GPR124_ENST00000315215.7_Silent_p.P652P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	869					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P862P(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGAGGGCACCCCCTCCGCAAG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	8											71.0	61.0	64.0					8																	37697734		2203	4300	6503	37816892	SO:0001819	synonymous_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2607C>G	8.37:g.37697734C>G			37816892	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2	SNP	22	Broad																																																																																				0.607	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			Silent
TGS1	96764	broad.mit.edu	37	8	56723473	56723473	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:56723473C>G	ENST00000260129.5	+	11	2654	c.2177C>G	c.(2176-2178)gCc>gGc	p.A726G		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	726	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.A726G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTTAAGATTGCCCTTGCTCGC	0.353																																					Esophageal Squamous(34;275 823 4842 34837 48447)											1	Substitution - Missense(1)	ovary(1)	8											206.0	208.0	207.0					8																	56723473		2203	4300	6503	56886027	SO:0001583	missense	96764			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2177C>G	8.37:g.56723473C>G	ENSP00000260129:p.Ala726Gly		56886027	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154418	0.38021	.	.	ENSG00000137574	ENST00000260129	T	0.54071	0.59	5.57	4.42	0.53409	.	0.269103	0.39985	N	0.001217	T	0.43567	0.1253	L	0.56199	1.76	0.34370	D	0.691899	B	0.09022	0.002	B	0.13407	0.009	T	0.49485	-0.8935	10	0.34782	T	0.22	-21.6624	5.8816	0.18858	0.7161:0.1743:0.1096:0.0	.	726	Q96RS0	TGS1_HUMAN	G	726	ENSP00000260129:A726G	ENSP00000260129:A726G	A	+	2	0	TGS1	56886027	0.985000	0.35326	1.000000	0.80357	0.982000	0.71751	2.459000	0.45023	0.952000	0.37798	-0.262000	0.10625	GCC		0.353	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		Missense_Mutation
MOS	4342	broad.mit.edu	37	8	57025501	57025501	+	Splice_Site	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:57025501T>A	ENST00000311923.1	-	1	1040	c.1041A>T	c.(1039-1041)tgA>tgT	p.*347C		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	0					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.*347C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGTTTTCAGTCAGCCGAGTT	0.483																																					Esophageal Squamous(124;373 2870 4778)											1	Nonstop extension(1)	ovary(1)	8											25.0	27.0	26.0					8																	57025501		2203	4300	6503	57188055	SO:0001630	splice_region_variant	4342				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.1038+1A>T	8.37:g.57025501T>A			57188055	Q3KPG9|Q3KPH0	Nonstop_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	SNP	58	Broad	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709854	0.48517	.	.	ENSG00000172680	ENST00000311923	.	.	.	5.8	0.388	0.16264	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8563	0.01183	0.1576:0.1833:0.1638:0.4953	.	.	.	.	C	347	.	.	X	-	3	0	MOS	57188055	0.001000	0.12720	0.004000	0.12327	0.175000	0.22909	0.103000	0.15292	0.422000	0.26005	0.459000	0.35465	TGA		0.483	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372	Nonstop_Mutation	Nonstop_Mutation
LRRC6	23639	broad.mit.edu	37	8	133637631	133637631	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:133637631G>T	ENST00000519595.1	-	6	821	c.723C>A	c.(721-723)gaC>gaA	p.D241E	LRRC6_ENST00000250173.1_Missense_Mutation_p.D241E|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.D241E			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	241					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D241E(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCACTGTTGTCTAATTTCT	0.388																																																1	Substitution - Missense(1)	ovary(1)	8											208.0	202.0	204.0					8																	133637631		2203	4300	6503	133706813	SO:0001583	missense	23639			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.723C>A	8.37:g.133637631G>T	ENSP00000429791:p.Asp241Glu		133706813	Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895539	0.17686	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T;T	0.52526	0.83;0.84;0.66;0.83	4.34	-4.85	0.03142	.	0.999417	0.08096	N	0.998636	T	0.20495	0.0493	N	0.13235	0.315	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35001	-0.9806	10	0.02654	T	1	-0.9799	6.0938	0.20008	0.3358:0.3067:0.3575:0.0	.	241	Q86X45	LRRC6_HUMAN	E	241;1;241;241;241	ENSP00000429791:D241E;ENSP00000428015:D1E;ENSP00000428610:D241E;ENSP00000250173:D241E	ENSP00000250173:D241E	D	-	3	2	LRRC6	133706813	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.425000	0.07017	-0.632000	0.05553	-0.323000	0.08544	GAC		0.388	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		Missense_Mutation
RFX3	5991	broad.mit.edu	37	9	3330481	3330481	+	Missense_Mutation	SNP	C	C	T	rs370801268		TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:3330481C>T	ENST00000382004.3	-	5	563	c.252G>A	c.(250-252)atG>atA	p.M84I	RFX3_ENST00000302303.1_Missense_Mutation_p.M84I|RFX3_ENST00000358730.2_Missense_Mutation_p.M84I	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	84					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M84I(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTGGCTGTACATCTGTGTCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	9						C	ILE/MET,ILE/MET	0,4406		0,0,2203	105.0	99.0	101.0		252,252	5.5	1.0	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFX3	NM_002919.2,NM_134428.1	10,10	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	84/708,84/750	3330481	1,13005	2203	4300	6503	3320481	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.252G>A	9.37:g.3330481C>T	ENSP00000371434:p.Met84Ile		3320481	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035043	0.35893	0.0	1.16E-4	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985;ENST00000449190	T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.5	5.5	0.81552	RFX1 transcription activation region (1);	0.043366	0.85682	D	0.000000	T	0.13243	0.0321	N	0.03050	-0.425	0.44241	D	0.997081	B;B;B;B	0.16802	0.003;0.019;0.003;0.003	B;B;B;B	0.14023	0.007;0.01;0.006;0.01	T	0.18681	-1.0329	10	0.16896	T	0.51	-20.8715	19.3658	0.94461	0.0:1.0:0.0:0.0	.	84;84;84;84	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	I	84;84;84;84;84;84;45;45;84;84	ENSP00000371434:M84I;ENSP00000351574:M84I;ENSP00000303847:M84I;ENSP00000405664:M84I;ENSP00000411756:M84I;ENSP00000410988:M45I;ENSP00000416189:M45I;ENSP00000399352:M84I	ENSP00000303847:M84I	M	-	3	0	RFX3	3320481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.516000	0.53436	2.737000	0.93849	0.563000	0.77884	ATG		0.408	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		Missense_Mutation
DDX58	23586	broad.mit.edu	37	9	32487984	32487984	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:32487984G>C	ENST00000379883.2	-	8	1328	c.1171C>G	c.(1171-1173)Cta>Gta	p.L391V	DDX58_ENST00000379882.1_Missense_Mutation_p.L346V|DDX58_ENST00000542096.1_Missense_Mutation_p.L320V|DDX58_ENST00000545044.1_Missense_Mutation_p.L188V|DDX58_ENST00000379868.1_Missense_Mutation_p.L188V	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	391	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L391V(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTCTGATCTAGATAATTAAAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											143.0	152.0	149.0					9																	32487984		2203	4300	6503	32477984	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1171C>G	9.37:g.32487984G>C	ENSP00000369213:p.Leu391Val		32477984	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272879	0.59649	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	4.73	2.48	0.30137	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.49305	D	0.000155	T	0.28234	0.0697	L	0.58101	1.795	0.31292	N	0.689261	D;P;D;D	0.71674	0.997;0.589;0.979;0.998	D;B;D;D	0.73380	0.92;0.365;0.957;0.98	T	0.14172	-1.0482	10	0.27082	T	0.32	-8.6428	4.6341	0.12516	0.442:0.0:0.558:0.0	.	188;346;320;391	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	V	346;391;188;320;188	ENSP00000369212:L346V;ENSP00000369213:L391V;ENSP00000369197:L188V;ENSP00000442160:L320V;ENSP00000443055:L188V	ENSP00000369197:L188V	L	-	1	2	DDX58	32477984	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.462000	0.35266	1.137000	0.42214	0.455000	0.32223	CTA		0.393	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		Missense_Mutation
SMU1	55234	broad.mit.edu	37	9	33076580	33076580	+	Splice_Site	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:33076580C>T	ENST00000397149.3	-	1	77		c.e1+1		SMU1_ENST00000536631.1_Splice_Site	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GCAGGACTCACTCCGAAGATT	0.642																																																1	Unknown(1)	ovary(1)	9											111.0	101.0	104.0					9																	33076580		2203	4300	6503	33066580	SO:0001630	splice_region_variant	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.26+1G>A	9.37:g.33076580C>T			33066580	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Splice_Site_SNP	SNP	ENST00000397149.3	37	CCDS6534.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923243	0.73213	.	.	ENSG00000122692	ENST00000397149	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7486	0.69508	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMU1	33066580	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.561000	0.60809	2.767000	0.95098	0.650000	0.86243	.		0.642	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225	Intron	Splice_Site_SNP
ANKS6	203286	broad.mit.edu	37	9	101530427	101530427	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:101530427G>C	ENST00000353234.4	-	11	2125	c.2078C>G	c.(2077-2079)gCa>gGa	p.A693G	ANKS6_ENST00000540940.1_Missense_Mutation_p.A498G|ANKS6_ENST00000375019.2_Missense_Mutation_p.A392G|ANKS6_ENST00000375018.1_Missense_Mutation_p.A693G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	693	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)		p.A693G(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGACCCCGGTGCTGGCCCCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											35.0	42.0	40.0					9																	101530427		2080	4212	6292	100570248	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2078C>G	9.37:g.101530427G>C	ENSP00000297837:p.Ala693Gly		100570248	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	SNP	46	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.722467|4.722467	0.89298|0.89298	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.69685|.	1.76;-0.4;-0.42;2.01|.	5.79|5.79	3.94|3.94	0.45596|0.45596	.|.	0.395400|.	0.31461|.	N|.	0.007605|.	T|T	0.44519|0.44519	0.1297|0.1297	L|L	0.54323|0.54323	1.7|1.7	0.24203|0.24203	N|N	0.995508|0.995508	P;P|.	0.49559|.	0.925;0.877|.	P;B|.	0.49597|.	0.616;0.411|.	T|T	0.29640|0.29640	-1.0005|-1.0005	10|5	0.35671|.	T|.	0.21|.	-10.7606|-10.7606	9.4237|9.4237	0.38567|0.38567	0.1692:0.0:0.8308:0.0|0.1692:0.0:0.8308:0.0	.|.	693;693|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	G|R	392;693;693;498|161	ENSP00000364159:A392G;ENSP00000364158:A693G;ENSP00000297837:A693G;ENSP00000442189:A498G|.	ENSP00000297837:A693G|.	A|S	-|-	2|3	0|2	ANKS6|ANKS6	100570248|100570248	0.018000|0.018000	0.18449|0.18449	0.174000|0.174000	0.22961|0.22961	0.610000|0.610000	0.37248|0.37248	1.041000|1.041000	0.30291|0.30291	1.460000|1.460000	0.47911|0.47911	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		Missense_Mutation
NR6A1	2649	broad.mit.edu	37	9	127316808	127316808	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:127316808T>A	ENST00000487099.2	-	3	341	c.184A>T	c.(184-186)Att>Ttt	p.I62F	NR6A1_ENST00000373584.3_Missense_Mutation_p.I58F|NR6A1_ENST00000344523.4_Missense_Mutation_p.I62F|NR6A1_ENST00000416460.2_Missense_Mutation_p.I58F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	62					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I62F(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TCCCCACAAATGAGACAGGTT	0.463																																					Esophageal Squamous(192;272 2884 6208 20560)											1	Substitution - Missense(1)	ovary(1)	9											98.0	91.0	93.0					9																	127316808		2203	4300	6503	126356629	SO:0001583	missense	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.184A>T	9.37:g.127316808T>A	ENSP00000420267:p.Ile62Phe		126356629	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330214	0.81690	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57	5.57	4.42	0.53409	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.99113	1.0847	10	0.87932	D	0	.	12.0832	0.53682	0.0:0.0:0.144:0.856	.	58;62;58	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	F	62;58;58;62;20	ENSP00000420267:I62F;ENSP00000362686:I58F;ENSP00000413701:I58F;ENSP00000341135:I62F;ENSP00000420587:I20F	ENSP00000341135:I62F	I	-	1	0	NR6A1	126356629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.968000	0.70413	0.926000	0.37118	0.460000	0.39030	ATT		0.463	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			Missense_Mutation
MAPKAP1	79109	broad.mit.edu	37	9	128434612	128434612	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:128434612C>G	ENST00000373498.1	-	1	310	c.242G>C	c.(241-243)aGa>aCa	p.R81T	MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.R81T|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.R81T|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.R81T|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.R81T			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	81	Interaction with MAP3K2.|Interaction with NBN.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551). {ECO:0000305}.	epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.R81T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGAGCGTCTTCTAATACCAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											116.0	96.0	103.0					9																	128434612		2203	4300	6503	127474433	SO:0001583	missense	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.242G>C	9.37:g.128434612C>G	ENSP00000362597:p.Arg81Thr		127474433	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429179	0.83776	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000433483	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.81942	2.565	0.80722	D	1	D;D;P;P	0.89917	1.0;0.957;0.663;0.911	D;P;B;P	0.85130	0.997;0.526;0.323;0.64	T	0.82922	-0.0217	9	0.46703	T	0.11	-6.2619	20.0608	0.97674	0.0:1.0:0.0:0.0	.	81;81;81;81	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	T	81;81;81;81;36;81;81	.	ENSP00000265960:R81T	R	-	2	0	MAPKAP1	127474433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.280000	0.78610	2.733000	0.93635	0.650000	0.86243	AGA		0.408	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			Missense_Mutation
MXRA5	25878	broad.mit.edu	37	X	3241097	3241097	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chrX:3241097G>C	ENST00000217939.6	-	5	2783	c.2629C>G	c.(2629-2631)Cct>Gct	p.P877A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	877						extracellular vesicular exosome (GO:0070062)		p.P877A(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTACTTCAGGTTCAACAAGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											103.0	88.0	93.0					X																	3241097		2203	4300	6503	3251097	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2629C>G	X.37:g.3241097G>C	ENSP00000217939:p.Pro877Ala		3251097	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	g	6.652	0.488857	0.12641	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62105	0.05	3.31	2.41	0.29592	.	0.410860	0.17541	N	0.170555	T	0.38081	0.1027	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.28808	-1.0032	10	0.62326	D	0.03	.	6.5689	0.22527	0.0:0.3636:0.448:0.1885	.	877	Q9NR99	MXRA5_HUMAN	A	877	ENSP00000217939:P877A	ENSP00000217939:P877A	P	-	1	0	MXRA5	3251097	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.273000	0.08548	0.401000	0.25424	0.529000	0.55759	CCT		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		Missense_Mutation
FRMPD4	9758	broad.mit.edu	37	X	12735839	12735839	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chrX:12735839C>A	ENST00000380682.1	+	16	3400	c.2894C>A	c.(2893-2895)cCa>cAa	p.P965Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	965					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P965Q(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGCTTGCCTCCAAAGTCCTCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											64.0	67.0	66.0					X																	12735839		2203	4300	6503	12645760	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2894C>A	X.37:g.12735839C>A	ENSP00000370057:p.Pro965Gln		12645760	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	4.534	0.099171	0.08681	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05199	3.48	5.65	4.68	0.58851	.	0.598474	0.17640	N	0.167054	T	0.04861	0.0131	L	0.44542	1.39	0.23468	N	0.997613	B;P	0.36959	0.421;0.575	B;B	0.28849	0.095;0.095	T	0.38200	-0.9672	10	0.56958	D	0.05	-13.3607	3.2422	0.06784	0.0:0.5721:0.0:0.4279	.	957;965	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Q	965;956;954	ENSP00000370057:P965Q	ENSP00000304583:P954Q	P	+	2	0	FRMPD4	12645760	0.166000	0.22962	0.981000	0.43875	0.112000	0.19704	1.409000	0.34680	2.397000	0.81536	0.600000	0.82982	CCA		0.617	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		Missense_Mutation
CXorf67	340602	broad.mit.edu	37	X	51151349	51151349	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chrX:51151349C>T	ENST00000342995.2	+	1	1583	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	494								p.T494I(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						ATAGAGAGCACAGCTCACCCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	X											34.0	31.0	32.0					X																	51151349		2203	4300	6503	51168089	SO:0001583	missense	0			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1481C>T	X.37:g.51151349C>T	ENSP00000342680:p.Thr494Ile		51168089		Missense_Mutation	SNP	ENST00000342995.2	37		SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642739	0.29246	.	.	ENSG00000187690	ENST00000342995	T	0.42131	0.98	3.7	-7.39	0.01402	.	5.370870	0.00783	N	0.001299	T	0.23846	0.0577	.	.	.	0.09310	N	1	B	0.24823	0.112	B	0.17722	0.019	T	0.07654	-1.0761	9	0.51188	T	0.08	7.1266	1.3057	0.02087	0.2394:0.1764:0.1177:0.4666	.	494	Q86X51	CX067_HUMAN	I	494	ENSP00000342680:T494I	ENSP00000342680:T494I	T	+	2	0	CXorf67	51168089	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.263000	0.01174	-2.205000	0.00742	-0.268000	0.10319	ACA		0.517	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		Missense_Mutation
ALAS2	212	broad.mit.edu	37	X	55042153	55042153	+	Silent	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chrX:55042153C>T	ENST00000330807.5	-	8	1163	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	ALAS2_ENST00000396198.3_Silent_p.E329E|ALAS2_ENST00000335854.4_Silent_p.E305E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	342					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.E342E(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCACACAACTCCTCGAGGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	X											83.0	58.0	67.0					X																	55042153		2203	4300	6503	55058878	SO:0001819	synonymous_variant	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1026G>A	X.37:g.55042153C>T			55058878	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	CCDS14366.1	SNP	20	Broad																																																																																				0.567	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		Silent
CHM	1121	broad.mit.edu	37	X	85236776	85236776	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chrX:85236776A>T	ENST00000357749.2	-	3	183	c.154T>A	c.(154-156)Ttt>Att	p.F52I	CHM_ENST00000358786.4_Missense_Mutation_p.F52I|CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	52					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.F52I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AGTCCTGAAAAGCTAAAACTG	0.318																																																1	Substitution - Missense(1)	ovary(1)	X											51.0	44.0	46.0					X																	85236776		2203	4299	6502	85123432	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.154T>A	X.37:g.85236776A>T	ENSP00000350386:p.Phe52Ile		85123432	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982253	0.74474	.	.	ENSG00000188419	ENST00000357749;ENST00000358786	D;D	0.84873	-1.91;-1.91	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	N	0.21583	0.68	0.80722	D	1	D;P	0.89917	1.0;0.956	D;P	0.91635	0.999;0.812	D	0.86645	0.1894	10	0.56958	D	0.05	-10.1495	11.0076	0.47644	1.0:0.0:0.0:0.0	.	52;52	A1L4D2;P24386	.;RAE1_HUMAN	I	52	ENSP00000350386:F52I;ENSP00000362228:F52I	ENSP00000350386:F52I	F	-	1	0	CHM	85123432	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.605000	0.67634	1.577000	0.49804	0.417000	0.27973	TTT		0.318	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		Missense_Mutation
PNMA5	114824	broad.mit.edu	37	X	152159720	152159720	+	Silent	SNP	T	T	C			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-23-1110-01	TCGA-23-1110-10	g.chrX:152159720T>C	ENST00000439251.1	-	2	861	c.423A>G	c.(421-423)caA>caG	p.Q141Q	PNMA5_ENST00000361887.5_Silent_p.Q141Q|PNMA5_ENST00000452693.1_Silent_p.Q141Q|PNMA5_ENST00000535214.1_Silent_p.Q141Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	141					positive regulation of apoptotic process (GO:0043065)			p.Q141Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATCTAACTTGGGGCATGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											147.0	151.0	149.0					X																	152159720		2203	4300	6503	151910376	SO:0001819	synonymous_variant	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.423A>G	X.37:g.152159720T>C			151910376	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	CCDS14718.1	SNP	56	Broad																																																																																				0.542	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		Silent
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49.0	49.0	49.0					17																	7578403		2203	4300	6503	7519128	SO:0001583	missense	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
PRR11	55771	broad.mit.edu	37	17	57262467	57262483	+	Frame_Shift_Del	DEL	TCCTGGAACTTCAATTT	TCCTGGAACTTCAATTT	-	rs373624342|rs201630179	byFrequency	TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr17:57262467_57262483delTCCTGGAACTTCAATTT	ENST00000262293.4	+	3	493_509	c.181_197delTCCTGGAACTTCAATTT	c.(181-198)tcctggaacttcaattttfs	p.SWNFNF61fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	61						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W62fs*1(1)|p.N65Y(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTAACATCATCCTGGAACTTCAATTTTCCTAACATC	0.373																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|breast(1)	17																																								54617265	SO:0001589	frameshift_variant	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.181_197delTCCTGGAACTTCAATTT	17.37:g.57262467_57262483delTCCTGGAACTTCAATTT	ENSP00000262293:p.Ser61fs		54617249	Q9NUZ7|Q9NXE9	Frame_Shift_Del	DEL	ENST00000262293.4	37	CCDS11614.1	DEL	50	Broad																																																																																				0.373	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		Frame_Shift_Del
MRPL4	51073	broad.mit.edu	37	19	10370467	10370473	+	Frame_Shift_Del	DEL	CGGCCAC	CGGCCAC	-	rs537189707|rs144195512	byFrequency	TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:10370467_10370473delCGGCCAC	ENST00000253099.6	+	9	1201_1207	c.914_920delCGGCCAC	c.(913-921)gcggccaccfs	p.AAT305fs	MRPL4_ENST00000393733.2_3'UTR|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000307422.5_Frame_Shift_Del_p.AAT305fs|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	305					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A306S(1)|p.A306fs>4(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CAGGGCCCAGCGGCCACCCCGTACCAC	0.657																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|kidney(1)	19																																								10231473	SO:0001589	frameshift_variant	51073			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.914_920delCGGCCAC	19.37:g.10370467_10370473delCGGCCAC	ENSP00000253099:p.Ala305fs		10231467	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Frame_Shift_Del	DEL	ENST00000253099.6	37	CCDS12230.1	DEL	27	Broad																																																																																				0.657	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			Frame_Shift_Del
CCDC9	26093	broad.mit.edu	37	19	47774571	47774585	+	In_Frame_Del	DEL	ACGAGGGGGAAGAGA	ACGAGGGGGAAGAGA	-	rs60930438|rs563584354|rs374413796|rs369681846	byFrequency	TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr19:47774571_47774585delACGAGGGGGAAGAGA	ENST00000221922.6	+	12	1454_1468	c.1232_1246delACGAGGGGGAAGAGA	c.(1231-1248)gacgagggggaagagaat>gat	p.EGEEN412del		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	412	Glu-rich.						poly(A) RNA binding (GO:0044822)	p.N416_E420delNEGEE(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCCTgaagacgagggggaagagaatgaggggga	0.605																																																1	Deletion - In frame(1)	ovary(1)	19																																								52466425	SO:0001651	inframe_deletion	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1232_1246delACGAGGGGGAAGAGA	19.37:g.47774571_47774585delACGAGGGGGAAGAGA	ENSP00000221922:p.Glu412_Asn416del		52466411		In_Frame_Del	DEL	ENST00000221922.6	37	CCDS12698.1	DEL	10	Broad																																																																																				0.605	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		In_Frame_Del
CCDC158	339965	broad.mit.edu	37	4	77276468	77276483	+	Splice_Site	DEL	GCAACCCACCTTATTT	GCAACCCACCTTATTT	-			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr4:77276468_77276483delGCAACCCACCTTATTT	ENST00000388914.3	-	14	2432_2439	c.2280_2287delAAATAAGGTGGGTTGC	c.(2278-2289)gcaaataaggtg>gctg	p.NKV761fs	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	761								p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTGAGGACAGCAACCCACCTTATTTGCATTTGTCA	0.463																																																1	Unknown(1)	ovary(1)	4																																								77495507	SO:0001630	splice_region_variant	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2286+1AAATAAGGTGGGTTGC>-	4.37:g.77276468_77276483delGCAACCCACCTTATTT			77495492	Q8IYQ1|Q8N7D4|Q8N7E3	Splice_Site_Del	DEL	ENST00000388914.3	37	CCDS43242.1	DEL	34	Broad																																																																																				0.463	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Frame_Shift_Del	Splice_Site_Del
CA1	759	broad.mit.edu	37	8	86245847	86245847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr8:86245847delA	ENST00000523953.1	-	6	1403	c.357delT	c.(355-357)cttfs	p.L119fs	CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Frame_Shift_Del_p.L6fs|CA1_ENST00000431316.1_Frame_Shift_Del_p.L119fs|CA1_ENST00000523022.1_Frame_Shift_Del_p.L119fs|CA1_ENST00000432364.2_Frame_Shift_Del_p.L119fs|CA1_ENST00000542576.1_Frame_Shift_Del_p.L119fs|CA1_ENST00000256119.5_Frame_Shift_Del_p.L119fs			P00915	CAH1_HUMAN	carbonic anhydrase I	119					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.H120fs*2(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GAGCTACGTGAAGCTAAAAAT	0.363																																																1	Deletion - Frameshift(1)	ovary(1)	8											76.0	72.0	74.0					8																	86245847		2203	4300	6503	86433099	SO:0001589	frameshift_variant	759			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.357delT	8.37:g.86245847delA	ENSP00000430656:p.Leu119fs		86433099		Frame_Shift_Del	DEL	ENST00000523953.1	37	CCDS6237.1	DEL	9	Broad																																																																																				0.363	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		Frame_Shift_Del
FAM166B	730112	broad.mit.edu	37	9	35562438	35562439	+	Frame_Shift_Ins	INS	-	-	G	rs77185976	byFrequency	TCGA-23-1110-01	TCGA-23-1110-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-23-1110-01	TCGA-23-1110-10	g.chr9:35562438_35562439insG	ENST00000399742.2	-	5	747_748	c.677_678insC	c.(676-678)ccafs	p.P226fs	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	226										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TTCTGGGAAGTGGGGGGAGATG	0.584																																																0			9							,	9,3767		1,7,1880					,	-6.3	0.0			35	8,7936		0,8,3964	no	frameshift,frameshift	FAM166B	NM_001164310.1,NM_001099951.2	,	1,15,5844	A1A1,A1R,RR		0.1007,0.2383,0.1451	,	,		17,11703				35552439	SO:0001589	frameshift_variant	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.678dupC	9.37:g.35562444_35562444dupG	ENSP00000382646:p.Pro226fs		35552438	A1L3B2|B7ZBJ0	Frame_Shift_Ins	INS	ENST00000399742.2	37	CCDS56572.1	INS	59	Broad																																																																																				0.584	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		Frame_Shift_Ins
