#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
RLF	6018	broad.mit.edu	37	1	40627309	40627309	+	Splice_Site	SNP	G	G	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr1:40627309G>T	ENST00000372771.4	+	1	264		c.e1+1			NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion						chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTGCCAGGTGAGGGGCTG	0.642																																																1	Unknown(1)	ovary(1)	1											50.0	54.0	53.0					1																	40627309		2203	4300	6503	40399896	SO:0001630	splice_region_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.237+1G>T	1.37:g.40627309G>T			40399896	Q14CQ1|Q9NU60	Splice_Site_SNP	SNP	ENST00000372771.4	37	CCDS448.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879966	0.72294	.	.	ENSG00000117000	ENST00000372771	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5477	0.84451	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RLF	40399896	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.418000	0.66429	2.357000	0.79964	0.455000	0.32223	.		0.642	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	Intron	Splice_Site_SNP
LEFTY1	10637	broad.mit.edu	37	1	226074505	226074505	+	Silent	SNP	G	G	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr1:226074505G>T	ENST00000272134.5	-	4	1102	c.1023C>A	c.(1021-1023)gtC>gtA	p.V341V	RP4-559A3.7_ENST00000432920.2_3'UTR|LEFTY1_ENST00000492457.1_5'Flank	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	341					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)		p.V341V(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					TGGGCAGGCTGACCACCTGGG	0.642																																																1	Substitution - coding silent(1)	ovary(1)	1											52.0	49.0	50.0					1																	226074505		2203	4296	6499	224141128	SO:0001819	synonymous_variant	10637			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.1023C>A	1.37:g.226074505G>T			224141128	B2R7U0|Q53H67|Q5TE94	Silent	SNP	ENST00000272134.5	37	CCDS1548.1	SNP	45	Broad																																																																																				0.642	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		Silent
SVIL	6840	broad.mit.edu	37	10	29776109	29776109	+	Missense_Mutation	SNP	C	C	T	rs148716000	byFrequency	TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr10:29776109C>T	ENST00000355867.4	-	24	5220	c.4468G>A	c.(4468-4470)Gtc>Atc	p.V1490I	SVIL_ENST00000375400.3_Missense_Mutation_p.V1064I|SVIL_ENST00000538146.1_Missense_Mutation_p.V282I|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.V404I|SVIL_ENST00000375398.2_Missense_Mutation_p.V1490I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1490	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.V1490I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTTTCTATGACGTTTGCAAAC	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	10											73.0	68.0	70.0					10																	29776109		2203	4300	6503	29816115	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4468G>A	10.37:g.29776109C>T	ENSP00000348128:p.Val1490Ile		29816115	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	SNP	19	Broad	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	27.4	4.825491	0.90955	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.45	4.45	0.53987	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.38953	1.18	0.80722	D	1	P;D;P;P	0.54047	0.657;0.964;0.582;0.95	B;B;B;P	0.44921	0.178;0.275;0.163;0.464	T	0.49771	-0.8904	10	0.72032	D	0.01	-23.9048	17.366	0.87364	0.0:1.0:0.0:0.0	.	404;282;1064;1490	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	I	1064;1490;1490;404;444;282	ENSP00000364549:V1064I;ENSP00000364547:V1490I;ENSP00000348128:V1490I;ENSP00000445472:V404I;ENSP00000440343:V282I	ENSP00000348128:V1490I	V	-	1	0	SVIL	29816115	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.818000	0.69236	2.315000	0.78130	0.485000	0.47835	GTC		0.512	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			Missense_Mutation
RGR	5995	broad.mit.edu	37	10	86008738	86008738	+	Missense_Mutation	SNP	G	G	A	rs373030585		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr10:86008738G>A	ENST00000372092.3	+	3	264	c.259G>A	c.(259-261)Gtt>Att	p.V87I	RGR_ENST00000358110.5_Silent_p.A99A|RGR_ENST00000359452.4_Silent_p.A103A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A103A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637																																					NSCLC(15;204 545 5889 6385 32445)											1	Substitution - coding silent(1)	ovary(1)	10						G	,,	2,4404	4.2+/-10.8	0,2,2201	65.0	59.0	61.0		297,297,309	-8.4	0.0	10		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	99/292,99/254,103/296	86008738	2,13004	2203	4300	6503	85998718	SO:0001583	missense	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.259G>A	10.37:g.86008738G>A	ENSP00000361164:p.Val87Ile		85998718	A6NKK7|Q96FC5	Silent	SNP	ENST00000372092.3	37		SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443074	0.04604	4.54E-4	0.0	ENSG00000148604	ENST00000372092	.	.	.	4.22	-8.44	0.00950	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.19300	N	0.99998	B	0.18166	0.026	B	0.06405	0.002	T	0.27054	-1.0085	7	0.87932	D	0	.	5.9322	0.19144	0.5623:0.0703:0.0746:0.2928	.	87	Q96HT6	.	I	87	.	ENSP00000361164:V87I	V	+	1	0	RGR	85998718	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-6.174000	0.00077	-3.672000	0.00123	-0.895000	0.02911	GTT		0.637	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921		Silent
OR5L2	26338	broad.mit.edu	37	11	55594897	55594897	+	Missense_Mutation	SNP	T	T	C	rs201538214		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr11:55594897T>C	ENST00000378397.1	+	1	203	c.203T>C	c.(202-204)tTt>tCt	p.F68S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F68S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTTGTCCTTTGTAGATTTC	0.468										HNSCC(27;0.073)																																						1	Substitution - Missense(1)	ovary(1)	11						T	SER/PHE	1,4399		0,1,2199	225.0	208.0	214.0		203	4.1	1.0	11		214	0,8592		0,0,4296	no	missense	OR5L2	NM_001004739.1	155	0,1,6495	CC,CT,TT		0.0,0.0227,0.0077	benign	68/312	55594897	1,12991	2200	4296	6496	55351473	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.203T>C	11.37:g.55594897T>C	ENSP00000367650:p.Phe68Ser		55351473	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010147	0.54361	2.27E-4	0.0	ENSG00000205030	ENST00000378397	T	0.01005	5.45	5.21	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.02230	0.0069	M	0.85373	2.75	0.35155	D	0.770122	B	0.17465	0.022	B	0.20577	0.03	T	0.06643	-1.0815	10	0.62326	D	0.03	-33.1164	10.4977	0.44788	0.0:0.0783:0.0:0.9217	.	68	Q8NGL0	OR5L2_HUMAN	S	68	ENSP00000367650:F68S	ENSP00000367650:F68S	F	+	2	0	OR5L2	55351473	0.712000	0.27916	1.000000	0.80357	0.940000	0.58332	4.742000	0.62103	0.942000	0.37525	0.509000	0.49947	TTT		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		Missense_Mutation
ATL3	25923	broad.mit.edu	37	11	63426708	63426708	+	Silent	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr11:63426708G>A	ENST00000398868.3	-	2	339	c.63C>T	c.(61-63)agC>agT	p.S21S	ATL3_ENST00000332645.4_Silent_p.S73S|ATL3_ENST00000535789.1_5'UTR|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Silent_p.S3S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	21					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.S21S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CAGGCTTGCTGCTCTCCATGG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	11											72.0	70.0	70.0					11																	63426708		1931	4136	6067	63183284	SO:0001819	synonymous_variant	25923				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.63C>T	11.37:g.63426708G>A			63183284	Q8N7W5|Q9H8Q5|Q9UFL1	Silent	SNP	ENST00000398868.3	37	CCDS41663.1	SNP	46	Broad																																																																																				0.388	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		Silent
RASGRP2	10235	broad.mit.edu	37	11	64507546	64507547	+	Missense_Mutation	DNP	TC	TC	GA			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr11:64507546_64507547TC>GA	ENST00000354024.3	-	6	712_713	c.460_461GA>TC	c.(460-462)GAg>TCg	p.E154S	RASGRP2_ENST00000394432.3_Missense_Mutation_p.E154S|RASGRP2_ENST00000377497.3_Missense_Mutation_p.E154S|RASGRP2_ENST00000377494.1_Missense_Mutation_p.E154S	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	154	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.E216S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCCATGGGCTCCAGGTGGTCA	0.614																																																1	Substitution - Missense(1)	ovary(1)	11																																								64264123	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.460_461delinsGA	11.37:g.64507546_64507547delinsGA	ENSP00000338864:p.Glu154Ser		64264122	A6NDC7|O00538|Q9UL65	Missense_Mutation	DNP	ENST00000354024.3	37	CCDS31598.1	DNP	54	Broad																																																																																				0.614	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		Missense_Mutation
LRRK2	120892	broad.mit.edu	37	12	40707951	40707951	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr12:40707951G>A	ENST00000298910.7	+	32	4772	c.4714G>A	c.(4714-4716)Gca>Aca	p.A1572T	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1572					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A1572T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTTCCTCACGCAGTTCACTT	0.338																																																2	Substitution - Missense(2)	ovary(2)	12											67.0	57.0	60.0					12																	40707951		2203	4299	6502	38994218	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4714G>A	12.37:g.40707951G>A	ENSP00000298910:p.Ala1572Thr		38994218	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	32	5.146199	0.94603	.	.	ENSG00000188906	ENST00000298910	T	0.79247	-1.25	5.83	5.83	0.93111	.	0.055971	0.64402	D	0.000001	D	0.88614	0.6484	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.945;0.961	D	0.88885	0.3342	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1572;1572	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1572	ENSP00000298910:A1572T	ENSP00000298910:A1572T	A	+	1	0	LRRK2	38994218	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	8.984000	0.93482	2.753000	0.94483	0.585000	0.79938	GCA		0.338	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		Missense_Mutation
KRT85	3891	broad.mit.edu	37	12	52760873	52760873	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr12:52760873G>A	ENST00000257901.3	-	1	392	c.317C>T	c.(316-318)aCg>aTg	p.T106M	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	106	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T106M(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTGAGGGGCGTGAGGAGGCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											119.0	116.0	117.0					12																	52760873		2203	4298	6501	51047140	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.317C>T	12.37:g.52760873G>A	ENSP00000257901:p.Thr106Met		51047140	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179853	0.38511	.	.	ENSG00000135443	ENST00000257901	T	0.75938	-0.98	4.61	4.61	0.57282	.	0.224308	0.31721	N	0.007167	T	0.71508	0.3348	M	0.80183	2.485	0.35346	D	0.786923	P	0.34837	0.472	B	0.26310	0.068	T	0.81172	-0.1054	10	0.66056	D	0.02	.	11.2566	0.49058	0.0:0.1351:0.7257:0.1392	.	106	P78386	KRT85_HUMAN	M	106	ENSP00000257901:T106M	ENSP00000257901:T106M	T	-	2	0	KRT85	51047140	0.012000	0.17670	0.536000	0.28039	0.981000	0.71138	1.743000	0.38258	2.550000	0.86006	0.462000	0.41574	ACG		0.652	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		Missense_Mutation
UTP20	27340	broad.mit.edu	37	12	101757449	101757449	+	Nonsense_Mutation	SNP	C	C	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr12:101757449C>G	ENST00000261637.4	+	45	6060	c.5886C>G	c.(5884-5886)taC>taG	p.Y1962*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1962					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.Y1962*(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAAAAGTTACGACTCTTATG	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	12											121.0	107.0	112.0					12																	101757449		2203	4300	6503	100281580	SO:0001587	stop_gained	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5886C>G	12.37:g.101757449C>G	ENSP00000261637:p.Tyr1962*		100281580	Q9H3H4	Nonsense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	45	11.952519	0.99621	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.92	-5.25	0.02781	.	0.248072	0.44285	D	0.000474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7135	17.9612	0.89086	0.0:0.615:0.0:0.385	.	.	.	.	X	1962	.	ENSP00000261637:Y1962X	Y	+	3	2	UTP20	100281580	0.000000	0.05858	0.689000	0.30133	0.861000	0.49209	-2.634000	0.00869	-0.897000	0.03910	-0.345000	0.07892	TAC		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		Nonsense_Mutation
CCDC64	92558	broad.mit.edu	37	12	120530924	120530924	+	Missense_Mutation	SNP	G	G	A	rs550764256		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr12:120530924G>A	ENST00000397558.2	+	9	1681	c.1681G>A	c.(1681-1683)Gct>Act	p.A561T	CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000257583.4_Missense_Mutation_p.A258T|CCDC64_ENST00000446727.2_Missense_Mutation_p.A232T	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	561					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCCAGCATCGCTGAAGGCAA	0.607																																																0			12											31.0	36.0	34.0					12																	120530924		2008	4153	6161	119015307	SO:0001583	missense	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1681G>A	12.37:g.120530924G>A	ENSP00000380690:p.Ala561Thr		119015307	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144223	0.37825	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T	0.46063	1.45;0.88	4.81	-8.02	0.01118	.	0.688594	0.11574	N	0.550471	T	0.18383	0.0441	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33198	0.007;0.401;0.017	B;B;B	0.23150	0.004;0.044;0.007	T	0.07790	-1.0754	10	0.48119	T	0.1	7.0383	11.5062	0.50468	0.1074:0.184:0.7086:0.0	.	258;232;561	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	T	561;232;279;258	ENSP00000380690:A561T;ENSP00000399658:A232T	ENSP00000257583:A258T	A	+	1	0	CCDC64	119015307	0.002000	0.14202	0.009000	0.14445	0.926000	0.56050	-0.137000	0.10389	-1.751000	0.01326	-0.367000	0.07326	GCT		0.607	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		Missense_Mutation
FOXG1	2290	broad.mit.edu	37	14	29237220	29237220	+	Silent	SNP	C	C	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr14:29237220C>T	ENST00000313071.4	+	1	934	c.735C>T	c.(733-735)caC>caT	p.H245H	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.H245H	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	245					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H245H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGCCGCGCCACTACGACGACC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	14											48.0	48.0	48.0					14																	29237220		2203	4300	6503	28306971	SO:0001819	synonymous_variant	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.735C>T	14.37:g.29237220C>T			28306971	A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	CCDS9636.1	SNP	20	Broad																																																																																				0.622	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			Silent
MLH3	27030	broad.mit.edu	37	14	75515588	75515588	+	Silent	SNP	T	T	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr14:75515588T>C	ENST00000556740.1	-	1	806	c.771A>G	c.(769-771)agA>agG	p.R257R	MLH3_ENST00000238662.7_Silent_p.R257R|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Silent_p.R257R|MLH3_ENST00000355774.2_Silent_p.R257R			Q9UHC1	MLH3_HUMAN	mutL homolog 3	257					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.R257R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTAAAACTAGTCTTTTGTTCA	0.323								Mismatch excision repair (MMR)																																								1	Substitution - coding silent(1)	ovary(1)	14											47.0	50.0	49.0					14																	75515588		2203	4300	6503	74585341	SO:0001819	synonymous_variant	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.771A>G	14.37:g.75515588T>C			74585341	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	CCDS32123.1	SNP	58	Broad																																																																																				0.323	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		Silent
MAP1A	4130	broad.mit.edu	37	15	43818600	43818600	+	Silent	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr15:43818600G>A	ENST00000300231.5	+	4	5379	c.4929G>A	c.(4927-4929)ggG>ggA	p.G1643G	MAP1A_ENST00000382031.1_Silent_p.G1881G|MAP1A_ENST00000399453.1_Silent_p.G1643G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1643					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G1643G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACTGGAGGGGGCAGGATGTGG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	15											46.0	59.0	55.0					15																	43818600		1966	4142	6108	41605892	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4929G>A	15.37:g.43818600G>A			41605892	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1	SNP	42	Broad																																																																																				0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		Silent
BFAR	51283	broad.mit.edu	37	16	14743686	14743686	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr16:14743686G>A	ENST00000261658.2	+	4	771	c.494G>A	c.(493-495)aGc>aAc	p.S165N	BFAR_ENST00000426842.2_Missense_Mutation_p.S37N|BFAR_ENST00000563971.1_Intron	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	165					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.S165N(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TATCACTGGAGCAGCAGGGAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											83.0	79.0	80.0					16																	14743686		2197	4300	6497	14651187	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.494G>A	16.37:g.14743686G>A	ENSP00000261658:p.Ser165Asn		14651187	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	CCDS10554.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325967	0.81580	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.46451	3.25;0.87	5.35	5.35	0.76521	.	0.147966	0.64402	D	0.000005	T	0.34308	0.0893	L	0.34521	1.04	0.53005	D	0.999969	B;B	0.26635	0.155;0.009	B;B	0.23018	0.043;0.006	T	0.07790	-1.0754	10	0.23302	T	0.38	-13.5849	18.0392	0.89314	0.0:0.0:1.0:0.0	.	37;165	B4DUT0;Q9NZS9	.;BFAR_HUMAN	N	165;37	ENSP00000261658:S165N;ENSP00000400634:S37N	ENSP00000261658:S165N	S	+	2	0	BFAR	14651187	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.397000	0.73239	2.498000	0.84270	0.462000	0.41574	AGC		0.567	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		Missense_Mutation
NUDT7	283927	broad.mit.edu	37	16	77759482	77759482	+	Splice_Site	SNP	G	G	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr16:77759482G>T	ENST00000268533.5	+	2	258		c.e2+1		NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Splice_Site|NUDT7_ENST00000568787.1_Splice_Site|NUDT7_ENST00000437314.3_Splice_Site	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7						acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.?(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTCAGAGAAGGTAGGTGGACA	0.418																																																1	Unknown(1)	ovary(1)	16											73.0	73.0	73.0					16																	77759482		1862	4096	5958	76316983	SO:0001630	splice_region_variant	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.189+1G>T	16.37:g.77759482G>T			76316983	B4DLE5|H3BUB8	Splice_Site_SNP	SNP	ENST00000268533.5	37	CCDS42195.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658499	0.47467	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9477	0.71044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUDT7	76316983	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.449000	0.66619	2.599000	0.87857	0.563000	0.77884	.		0.418	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		Intron	Splice_Site_SNP
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		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"""	71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	17											53.0	54.0	53.0					17																	7578443		2203	4300	6503	7519168	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.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His		7519168	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	15	Broad	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
NF1	4763	broad.mit.edu	37	17	29548875	29548875	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr17:29548875T>C	ENST00000358273.4	+	15	2032	c.1649T>C	c.(1648-1650)cTg>cCg	p.L550P	NF1_ENST00000431387.4_Missense_Mutation_p.L550P|NF1_ENST00000356175.3_Missense_Mutation_p.L550P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	550					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L550P(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGGCTCTGCTGGTTCTTCAT	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|ovary(1)	17											55.0	54.0	54.0					17																	29548875		2202	4294	6496	26573001	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1649T>C	17.37:g.29548875T>C	ENSP00000351015:p.Leu550Pro		26573001	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463600	0.84425	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.66099	2.27;-0.19;-0.19;2.51	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.79370	0.4434	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.994;0.994;0.99;0.999	T	0.81872	-0.0733	10	0.87932	D	0	.	16.1021	0.81178	0.0:0.0:0.0:1.0	.	550;550;550;550	E1P657;P21359-2;P21359;Q14931	.;.;NF1_HUMAN;.	P	550;550;550;216	ENSP00000412921:L550P;ENSP00000351015:L550P;ENSP00000348498:L550P;ENSP00000389907:L216P	ENSP00000348498:L550P	L	+	2	0	NF1	26573001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.210000	0.71456	0.533000	0.62120	CTG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		Missense_Mutation
EZH1	2145	broad.mit.edu	37	17	40872468	40872469	+	Splice_Site	DNP	CT	CT	AC			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr17:40872468_40872469CT>AC	ENST00000428826.2	-	7	609		c.e7-1		EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000585893.1_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000592743.1_Splice_Site|EZH1_ENST00000590078.1_Splice_Site			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit						anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GGGATCATCTCTGAAACATGAG	0.47																																																0			17																																								38125995	SO:0001630	splice_region_variant	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.488_488delinsAC	17.37:g.40872468_40872469delinsAC			38125994	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Splice_Site_SNP	DNP	ENST00000428826.2	37	CCDS32659.1	DNP	32	Broad																																																																																				0.470	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	Intron	Splice_Site_SNP
DUS1L	64118	broad.mit.edu	37	17	80020846	80020846	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr17:80020846A>G	ENST00000354321.7	-	4	886	c.401T>C	c.(400-402)tTg>tCg	p.L134S	DUS1L_ENST00000306796.5_Missense_Mutation_p.L134S			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	134							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)	p.L134S(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTGGGCCAGCAAAACTGGGGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											46.0	44.0	45.0					17																	80020846		2201	4298	6499	77614135	SO:0001583	missense	64118				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.401T>C	17.37:g.80020846A>G	ENSP00000346280:p.Leu134Ser		77614135	A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	CCDS32775.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	A	8.640	0.895727	0.17686	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088	T;T	0.19938	2.11;2.11	3.49	1.03	0.20045	Aldolase-type TIM barrel (1);	0.624634	0.14989	N	0.286792	T	0.02929	0.0087	N	0.00063	-2.32	0.34696	D	0.726248	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.0	T	0.43294	-0.9400	10	0.05436	T	0.98	-1.8004	7.9931	0.30252	0.5137:0.0:0.0:0.4863	.	7;134	B4DPG7;Q6P1R4	.;DUS1L_HUMAN	S	134;134;7	ENSP00000346280:L134S;ENSP00000303515:L134S	ENSP00000303515:L134S	L	-	2	0	DUS1L	77614135	0.093000	0.21703	0.921000	0.36526	0.588000	0.36517	1.066000	0.30604	-0.023000	0.13963	0.482000	0.46254	TTG		0.607	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		Missense_Mutation
RBBP8	5932	broad.mit.edu	37	18	20602131	20602131	+	Silent	SNP	T	T	C	rs140165933		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr18:20602131T>C	ENST00000399722.2	+	18	2845	c.2494T>C	c.(2494-2496)Ttg>Ctg	p.L832L	RBBP8_ENST00000399725.2_Silent_p.N799N|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000327155.5_Silent_p.L832L|RBBP8_ENST00000360790.5_Silent_p.L837L|RBBP8_ENST00000581687.1_Silent_p.L10L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	832					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L832L(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGAAAAGAAATTGGCTTCCTG	0.368								Homologous recombination																																								1	Substitution - coding silent(1)	ovary(1)	18						T	,,	0,4406		0,0,2203	147.0	155.0	152.0		2494,2494,2397	0.4	1.0	18	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RBBP8	NM_002894.2,NM_203291.1,NM_203292.1	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	832/898,832/898,799/868	20602131	1,13005	2203	4300	6503	18856129	SO:0001819	synonymous_variant	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2494T>C	18.37:g.20602131T>C			18856129	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	CCDS11875.1	SNP	52	Broad																																																																																				0.368	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		Silent
ZNF236	7776	broad.mit.edu	37	18	74659528	74659528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr18:74659528G>T	ENST00000253159.8	+	27	5026	c.4828G>T	c.(4828-4830)Gga>Tga	p.G1610*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.G1612*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1610					cellular response to glucose stimulus (GO:0071333)|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.G1610*(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGCCAGGGTGGAGCAGGCTC	0.507																																																1	Substitution - Nonsense(1)	ovary(1)	18											56.0	66.0	63.0					18																	74659528		2132	4246	6378	72788516	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4828G>T	18.37:g.74659528G>T	ENSP00000253159:p.Gly1610*		72788516	B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	41	9.010383	0.99035	.	.	ENSG00000130856	ENST00000253159	.	.	.	5.71	5.71	0.89125	.	0.276185	0.35585	N	0.003118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.7355	0.62815	0.074:0.0:0.926:0.0	.	.	.	.	X	1610	.	ENSP00000253159:G1610X	G	+	1	0	ZNF236	72788516	0.987000	0.35691	0.013000	0.15412	0.284000	0.27059	3.179000	0.50887	2.709000	0.92574	0.655000	0.94253	GGA		0.507	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			Nonsense_Mutation
KISS1R	84634	broad.mit.edu	37	19	920425	920425	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr19:920425G>C	ENST00000234371.5	+	5	1027	c.874G>C	c.(874-876)Ggc>Cgc	p.G292R	KISS1R_ENST00000606939.1_Missense_Mutation_p.G214A	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	292					activation of MAPKK activity (GO:0000186)|arachidonic acid secretion (GO:0050482)|calcium-mediated signaling (GO:0019722)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|positive regulation of hormone secretion (GO:0046887)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission (GO:0050806)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide binding (GO:0042923)|neuropeptide receptor activity (GO:0008188)	p.G292R(1)		cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCCCGCGGGCTCCTGGCA	0.697																																																1	Substitution - Missense(1)	ovary(1)	19											23.0	23.0	23.0					19																	920425		2202	4300	6502	871425	SO:0001583	missense	84634			AB051065	CCDS12049.1	19p13.3	2012-08-10	2006-02-15	2006-02-15	ENSG00000116014	ENSG00000116014		"""GPCR / Class A : RF amide peptide receptors"""	4510	protein-coding gene	gene with protein product		604161	"""G protein-coupled receptor 54"""	GPR54		10100623	Standard	NM_032551		Approved	HOT7T175, AXOR12	uc002lqk.4	Q969F8		ENST00000234371.5:c.874G>C	19.37:g.920425G>C	ENSP00000234371:p.Gly292Arg		871425	A5D8U2|B2RTV1|Q96QG0	Missense_Mutation	SNP	ENST00000234371.5	37	CCDS12049.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478114	0.63849	.	.	ENSG00000116014	ENST00000234371	T	0.58210	0.35	4.25	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.246706	0.25786	U	0.028302	T	0.52581	0.1743	L	0.31476	0.935	0.33051	D	0.532727	D	0.76494	0.999	D	0.77557	0.99	T	0.56926	-0.7898	10	0.25751	T	0.34	.	6.008	0.19557	0.2231:0.0:0.7769:0.0	.	292	Q969F8	KISSR_HUMAN	R	292	ENSP00000234371:G292R	ENSP00000234371:G292R	G	+	1	0	KISS1R	871425	0.465000	0.25815	0.755000	0.31263	0.718000	0.41266	0.000000	0.12993	2.116000	0.64780	0.485000	0.47835	GGC		0.697	KISS1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458217.3	NM_032551		Missense_Mutation
ZNF181	339318	broad.mit.edu	37	19	35231923	35231923	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr19:35231923A>G	ENST00000492450.1	+	4	726	c.637A>G	c.(637-639)Aat>Gat	p.N213D	ZNF181_ENST00000459757.2_Missense_Mutation_p.N212D|ZNF181_ENST00000392232.3_Missense_Mutation_p.N257D			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	213					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.N149D(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTGAATTCTAATAAAAGTGG	0.358																																																1	Substitution - Missense(1)	ovary(1)	19											74.0	85.0	81.0					19																	35231923		2201	4299	6500	39923763	SO:0001583	missense	339318			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.637A>G	19.37:g.35231923A>G	ENSP00000420727:p.Asn213Asp		39923763	B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	SNP	13	Broad	.	.	.	.	.	.	.	.	.	.	A	3.125	-0.179652	0.06380	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.07327	3.2;3.2;3.2	2.89	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	L	0.53249	1.67	0.09310	N	0.999995	B;B	0.29766	0.0;0.256	B;B	0.24701	0.0;0.055	T	0.32561	-0.9902	9	0.28530	T	0.3	.	6.6257	0.22828	0.8744:0.0:0.1256:0.0	.	212;213	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	D	257;212;213;212	ENSP00000376065:N257D;ENSP00000420727:N213D;ENSP00000419435:N212D	ENSP00000376065:N257D	N	+	1	0	ZNF181	39923763	.	.	0.995000	0.50966	0.190000	0.23558	.	.	0.501000	0.28013	0.402000	0.26972	AAT		0.358	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		Missense_Mutation
PPP2R1A	5518	broad.mit.edu	37	19	52714675	52714675	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr19:52714675A>C	ENST00000322088.6	+	4	491	c.433A>C	c.(433-435)Acc>Ccc	p.T145P	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.T90P	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	145	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.T145P(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACCTCCCGCACCTCGGCCTG	0.642			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	1	Substitution - Missense(1)	ovary(1)	19											51.0	53.0	52.0					19																	52714675		2203	4300	6503	57406487	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.433A>C	19.37:g.52714675A>C	ENSP00000324804:p.Thr145Pro		57406487	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939053	0.73557	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.090275	0.45606	D	0.000343	T	0.20780	0.0500	M	0.90759	3.145	0.80722	D	1	P;P;P	0.47545	0.897;0.822;0.822	P;P;P	0.50192	0.634;0.474;0.474	T	0.02829	-1.1105	10	0.72032	D	0.01	-35.5748	12.2512	0.54599	1.0:0.0:0.0:0.0	.	90;145;145	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	P	135;145;90	ENSP00000324804:T145P;ENSP00000415067:T90P	ENSP00000324804:T145P	T	+	1	0	PPP2R1A	57406487	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.132000	0.89603	2.061000	0.61500	0.533000	0.62120	ACC		0.642	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		Missense_Mutation
KCNS3	3790	broad.mit.edu	37	2	18113408	18113408	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:18113408C>T	ENST00000403915.1	+	3	1584	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	KCNS3_ENST00000304101.4_Missense_Mutation_p.P378L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	378	Segment H5 (pore-forming). {ECO:0000255}.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.P378L(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACACCCACCCGGTCACCTTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											106.0	94.0	98.0					2																	18113408		2203	4300	6503	17976889	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1133C>T	2.37:g.18113408C>T	ENSP00000385968:p.Pro378Leu		17976889	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378497	0.82682	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98777	-5.13;-5.13	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97833	1.0264	10	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	378	Q9BQ31	KCNS3_HUMAN	L	378	ENSP00000385968:P378L;ENSP00000305824:P378L	ENSP00000305824:P378L	P	+	2	0	KCNS3	17976889	1.000000	0.71417	0.967000	0.41034	0.928000	0.56348	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	CCG		0.557	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		Missense_Mutation
GTF3C2	2976	broad.mit.edu	37	2	27552339	27552339	+	Missense_Mutation	SNP	C	C	T	rs573699100		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:27552339C>T	ENST00000359541.2	-	13	2213	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R595Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	595					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.R595Q(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGAGAGCCGTATCCGCTG	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	2											143.0	144.0	143.0					2																	27552339		2203	4300	6503	27405843	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1784G>A	2.37:g.27552339C>T	ENSP00000352536:p.Arg595Gln		27405843	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	SNP	23	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389988|3.389988	0.61956|0.61956	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704|ENST00000359541;ENST00000264720	.|T;T	.|0.62941	.|-0.01;-0.01	5.87|5.87	5.87|5.87	0.94306|0.94306	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.057253	.|0.64402	.|D	.|0.000001	T|T	0.56366|0.56366	0.1980|0.1980	L|L	0.56769|0.56769	1.78|1.78	0.54753|0.54753	D|D	0.999987|0.999987	.|B	.|0.32653	.|0.379	.|B	.|0.18561	.|0.022	T|T	0.53121|0.53121	-0.8483|-0.8483	5|10	.|0.23891	.|T	.|0.37	-18.383|-18.383	18.0718|18.0718	0.89410|0.89410	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|595	.|Q8WUA4	.|TF3C2_HUMAN	S|Q	104|595	.|ENSP00000352536:R595Q;ENSP00000264720:R595Q	.|ENSP00000264720:R595Q	G|R	-|-	1|2	0|0	GTF3C2|GTF3C2	27405843|27405843	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.712000|0.712000	0.25779|0.25779	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.498	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			Missense_Mutation
KCNK12	56660	broad.mit.edu	37	2	47748838	47748838	+	Silent	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:47748838G>A	ENST00000327876.4	-	2	1108	c.501C>T	c.(499-501)cgC>cgT	p.R167R	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	167						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)|p.R167R(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCGAGATGATGCGCTCCAGGA	0.701																																																5	Whole gene deletion(2)|Unknown(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(3)|ovary(1)|prostate(1)	2											18.0	20.0	20.0					2																	47748838		2192	4289	6481	47602342	SO:0001819	synonymous_variant	56660			AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.501C>T	2.37:g.47748838G>A			47602342		Silent	SNP	ENST00000327876.4	37	CCDS1835.1	SNP	46	Broad																																																																																				0.701	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		Silent
WIPF1	7456	broad.mit.edu	37	2	175436888	175436888	+	Silent	SNP	G	G	A	rs141354164		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:175436888G>A	ENST00000392547.2	-	5	744	c.645C>T	c.(643-645)ccC>ccT	p.P215P	WIPF1_ENST00000392546.2_Silent_p.P215P|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409891.1_Silent_p.P215P|WIPF1_ENST00000409415.3_Silent_p.P215P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P215P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P215P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	215					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P215P(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGTGGGCCCGGGGCTGGGCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15199	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	2						G	,	7,4375		0,7,2184	30.0	39.0	36.0		645,645	-1.7	0.6	2	dbSNP_134	36	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	WIPF1	NM_001077269.1,NM_003387.4	,	0,7,6472	AA,AG,GG		0.0,0.1597,0.054	,	215/504,215/504	175436888	7,12951	2191	4288	6479	175145134	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.645C>T	2.37:g.175436888G>A			175145134	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	CCDS2260.1	SNP	39	Broad																																																																																				0.642	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		Silent
FZD5	7855	broad.mit.edu	37	2	208632254	208632254	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:208632254C>A	ENST00000295417.3	-	2	1763	c.1210G>T	c.(1210-1212)Gtg>Ttg	p.V404L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	404					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V404L(1)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGGCCCAGCACGAAGCCGCGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	2											41.0	44.0	43.0					2																	208632254		2203	4299	6502	208340499	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1210G>T	2.37:g.208632254C>A	ENSP00000354607:p.Val404Leu		208340499	A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564405	0.86335	.	.	ENSG00000163251	ENST00000295417	D	0.84442	-1.85	5.29	5.29	0.74685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	M	0.76938	2.355	0.80722	D	1	D	0.61080	0.989	D	0.66084	0.941	D	0.92365	0.5900	10	0.54805	T	0.06	.	18.934	0.92577	0.0:1.0:0.0:0.0	.	404	Q13467	FZD5_HUMAN	L	404	ENSP00000354607:V404L	ENSP00000354607:V404L	V	-	1	0	FZD5	208340499	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.464000	0.83262	0.555000	0.69702	GTG		0.672	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		Missense_Mutation
ABCB6	10058	broad.mit.edu	37	2	220083043	220083043	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:220083043C>G	ENST00000265316.3	-	1	669	c.353G>C	c.(352-354)gGc>gCc	p.G118A	ABCB6_ENST00000439002.2_Missense_Mutation_p.G118A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	118					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.G118A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAGGCGCCGGCCAGACT	0.697																																																1	Substitution - Missense(1)	ovary(1)	2											43.0	53.0	50.0					2																	220083043		2199	4286	6485	219791287	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.353G>C	2.37:g.220083043C>G	ENSP00000265316:p.Gly118Ala		219791287	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	CCDS2436.1	SNP	26	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.730|4.730	0.135745|0.135745	0.09032|0.09032	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750;ENST00000427013|ENST00000265316;ENST00000439002	.|T;T	.|0.76839	.|-1.05;-1.05	4.88|4.88	3.06|3.06	0.35304|0.35304	.|.	.|0.365643	.|0.35207	.|N	.|0.003361	T|T	0.60418|0.60418	0.2267|0.2267	N|N	0.14661|0.14661	0.345|0.345	0.46336|0.46336	D|D	0.998998|0.998998	.|B;B	.|0.23650	.|0.089;0.014	.|B;B	.|0.23275	.|0.045;0.013	T|T	0.54866|0.54866	-0.8229|-0.8229	5|10	.|0.41790	.|T	.|0.15	-8.9126|-8.9126	10.4788|10.4788	0.44680|0.44680	0.0:0.7927:0.1344:0.0729|0.0:0.7927:0.1344:0.0729	.|.	.|118;118	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	P|A	12;96|118	.|ENSP00000265316:G118A;ENSP00000394333:G118A	.|ENSP00000265316:G118A	A|G	-|-	1|2	0|0	ABCB6|ABCB6	219791287|219791287	0.798000|0.798000	0.28890|0.28890	0.786000|0.786000	0.31890|0.31890	0.984000|0.984000	0.73092|0.73092	3.437000|3.437000	0.52863|0.52863	0.753000|0.753000	0.32945|0.32945	0.591000|0.591000	0.81541|0.81541	GCG|GGC		0.697	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		Missense_Mutation
LRRFIP1	9208	broad.mit.edu	37	2	238672128	238672128	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr2:238672128T>C	ENST00000392000.4	+	11	1889	c.1772T>C	c.(1771-1773)gTt>gCt	p.V591A	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.V567A|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.V535A	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	591	Lys-rich.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.V591A(1)|p.V567A(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTTAAAGATGTTAAAAAAGAG	0.388																																																2	Substitution - Missense(2)	ovary(2)	2											46.0	49.0	48.0					2																	238672128		2201	4296	6497	238336867	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1772T>C	2.37:g.238672128T>C	ENSP00000375857:p.Val591Ala		238336867	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	SNP	60	Broad	.	.	.	.	.	.	.	.	.	.	T	6.234	0.411223	0.11812	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.12255	2.7;2.71;2.73	5.86	-5.71	0.02413	.	1.461640	0.04089	N	0.310988	T	0.05364	0.0142	N	0.04018	-0.295	0.09310	N	1	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.18561	0.022;0.004;0.013	T	0.41324	-0.9515	10	0.07030	T	0.85	-0.8177	9.7287	0.40348	0.1932:0.5226:0.0:0.2842	.	535;591;567	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	A	535;567;591	ENSP00000289175:V535A;ENSP00000244815:V567A;ENSP00000375857:V591A	ENSP00000244815:V567A	V	+	2	0	LRRFIP1	238336867	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.182000	0.09726	-1.433000	0.01977	0.533000	0.62120	GTT		0.388	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		Missense_Mutation
MOV10L1	54456	broad.mit.edu	37	22	50546652	50546652	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr22:50546652C>G	ENST00000262794.5	+	4	613	c.530C>G	c.(529-531)cCa>cGa	p.P177R	MOV10L1_ENST00000545383.1_Missense_Mutation_p.P177R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P177R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P157R|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	177					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.P177R(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCAGTGAAGCCACTGAGATAC	0.622																																																1	Substitution - Missense(1)	ovary(1)	22											55.0	46.0	49.0					22																	50546652		2203	4300	6503	48888779	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.530C>G	22.37:g.50546652C>G	ENSP00000262794:p.Pro177Arg		48888779	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312348	0.60414	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.28	4.27	0.50696	.	0.053361	0.85682	D	0.000000	T	0.56645	0.1999	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;0.999	T	0.62048	-0.6936	10	0.72032	D	0.01	-23.6829	11.4979	0.50419	0.0:0.9132:0.0:0.0868	.	157;157;177;177	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	177;177;177;157;157	ENSP00000438978:P177R;ENSP00000262794:P177R;ENSP00000379199:P177R;ENSP00000438542:P157R	ENSP00000262794:P177R	P	+	2	0	MOV10L1	48888779	1.000000	0.71417	0.901000	0.35422	0.343000	0.28985	6.182000	0.71995	1.239000	0.43787	0.644000	0.83932	CCA		0.622	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		Missense_Mutation
FAM19A1	407738	broad.mit.edu	37	3	68466563	68466563	+	Silent	SNP	C	C	T	rs529839655	byFrequency	TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr3:68466563C>T	ENST00000478136.1	+	3	742	c.252C>T	c.(250-252)tgC>tgT	p.C84C	FAM19A1_ENST00000496687.1_Silent_p.C84C|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	84						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.C84C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGCCTTCTTGCGTCGATGGTA	0.403													C|||	6	0.00119808	0.0	0.0	5008	,	,		17054	0.0		0.0	False		,,,				2504	0.0061															1	Substitution - coding silent(1)	ovary(1)	3											153.0	150.0	151.0					3																	68466563		1888	4113	6001	68549253	SO:0001819	synonymous_variant	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.252C>T	3.37:g.68466563C>T			68549253	A8K0V3|Q8TCL8	Silent	SNP	ENST00000478136.1	37	CCDS54606.1	SNP	27	Broad																																																																																				0.403	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		Silent
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159604073	159604073	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr3:159604073G>A	ENST00000460298.1	+	4	1077	c.836G>A	c.(835-837)aGt>aAt	p.S279N	IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.S395N|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.S368N|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.S87N|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.S306N|SCHIP1_ENST00000445224.2_Missense_Mutation_p.S76N|SCHIP1_ENST00000482804.1_Missense_Mutation_p.S92N|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.S319N					IQCJ-SCHIP1 readthrough									p.S319N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GCTGATGACAGTAAGACTGAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											201.0	171.0	181.0					3																	159604073		2203	4300	6503	161086767	SO:0001583	missense	29970				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.836G>A	3.37:g.159604073G>A	ENSP00000417305:p.Ser279Asn		161086767		Missense_Mutation	SNP	ENST00000460298.1	37		SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776527	0.90195	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	L	0.28274	0.84	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.985;0.981;0.998;0.999;0.998	D;D;D;D;D;D	0.83275	0.996;0.966;0.916;0.994;0.996;0.994	T	0.61540	-0.7042	10	0.45353	T	0.12	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	279;92;76;306;319;395	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	N	368;395;319;306;87;279;76;92	ENSP00000418692:S368N;ENSP00000420182:S395N;ENSP00000337239:S319N;ENSP00000400942:S306N;ENSP00000436076:S87N;ENSP00000417305:S279N;ENSP00000404860:S76N;ENSP00000419230:S92N	ENSP00000337239:S319N	S	+	2	0	SCHIP1;IQCJ-SCHIP1	161086767	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	9.338000	0.96553	2.941000	0.99782	0.655000	0.94253	AGT		0.502	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		Missense_Mutation
SI	6476	broad.mit.edu	37	3	164785145	164785145	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr3:164785145T>A	ENST00000264382.3	-	6	680	c.618A>T	c.(616-618)aaA>aaT	p.K206N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	206	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.K206N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TACCGTTGCTTTTCCTAATAA	0.308										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											86.0	85.0	85.0					3																	164785145		2203	4298	6501	166267839	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.618A>T	3.37:g.164785145T>A	ENSP00000264382:p.Lys206Asn		166267839	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548392	0.27652	.	.	ENSG00000090402	ENST00000264382	T	0.29655	1.56	5.25	4.08	0.47627	Glycoside hydrolase-type carbohydrate-binding (1);	0.419193	0.28914	N	0.013722	T	0.31575	0.0801	M	0.85197	2.74	0.31361	N	0.681315	B	0.26318	0.146	B	0.20767	0.031	T	0.44922	-0.9296	10	0.46703	T	0.11	.	2.2486	0.04038	0.1264:0.1456:0.1314:0.5966	.	206	P14410	SUIS_HUMAN	N	206	ENSP00000264382:K206N	ENSP00000264382:K206N	K	-	3	2	SI	166267839	0.870000	0.30015	0.998000	0.56505	0.588000	0.36517	0.293000	0.19029	0.942000	0.37525	0.467000	0.42956	AAA		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		Missense_Mutation
PCDHAC2	56134	broad.mit.edu	37	5	140347638	140347638	+	Silent	SNP	A	A	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr5:140347638A>G	ENST00000289269.5	+	1	1819	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R429R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGACCGAGAGCGGGTGG	0.567																																					Melanoma(190;638 2083 3390 11909 52360)											1	Substitution - coding silent(1)	ovary(1)	5											86.0	89.0	88.0					5																	140347638		2203	4300	6503	140327822	SO:0001819	synonymous_variant	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1287A>G	5.37:g.140347638A>G			140327822	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1	SNP	11	Broad																																																																																				0.567	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		Silent
CLINT1	9685	broad.mit.edu	37	5	157236727	157236727	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr5:157236727C>T	ENST00000411809.2	-	6	808	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	CLINT1_ENST00000296951.5_Missense_Mutation_p.G184S|CLINT1_ENST00000530742.1_Missense_Mutation_p.G184S|RNU6-260P_ENST00000384092.1_RNA|CLINT1_ENST00000523094.1_Missense_Mutation_p.G184S|CLINT1_ENST00000523908.1_Missense_Mutation_p.G202S	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	202					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.G184C(2)|p.G184S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAGCTCACCTAATTTATCA	0.398																																					Colon(22;427 587 2170 6147 14291)											3	Substitution - Missense(3)	lung(2)|ovary(1)	5											150.0	138.0	142.0					5																	157236727		1867	4104	5971	157169305	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.604G>A	5.37:g.157236727C>T	ENSP00000388340:p.Gly202Ser		157169305	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	36	5.707223	0.96821	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.86	5.95	5.95	0.96441	.	0.097175	0.64402	D	0.000001	T	0.63141	0.2486	M	0.64404	1.975	0.80722	D	1	P;D	0.63046	0.765;0.992	B;P	0.59012	0.404;0.85	T	0.53373	-0.8448	10	0.20519	T	0.43	0.1971	20.3932	0.98965	0.0:1.0:0.0:0.0	.	202;202	B7Z6F8;Q14677	.;EPN4_HUMAN	S	184;184;202;184;202	ENSP00000429345:G184S;ENSP00000433419:G184S;ENSP00000388340:G202S;ENSP00000296951:G184S;ENSP00000429824:G202S	ENSP00000296951:G184S	G	-	1	0	CLINT1	157169305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GGT		0.398	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		Missense_Mutation
HSPA1A	3303	broad.mit.edu	37	6	31785270	31785270	+	Silent	SNP	G	G	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr6:31785270G>A	ENST00000375651.5	+	1	1980	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Silent_p.S414S|HSPA1A_ENST00000458062.2_Silent_p.S488S	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	579					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)	p.S579S(1)		endometrium(1)|ovary(1)|stomach(1)	3						AGGTCATCTCGTGGCTGGACG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	6											78.0	51.0	60.0					6																	31785270		1883	3867	5750	31893249	SO:0001819	synonymous_variant	3303			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1737G>A	6.37:g.31785270G>A			31893249	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	37	CCDS34414.1	SNP	40	Broad																																																																																				0.572	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			Silent
TNXB	7148	broad.mit.edu	37	6	32029423	32029423	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr6:32029423C>G	ENST00000375244.3	-	21	7444	c.7243G>C	c.(7243-7245)Ggg>Cgg	p.G2415R	TNXB_ENST00000375247.2_Missense_Mutation_p.G2415R			P22105	TENX_HUMAN	tenascin XB	2475	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTAGCTCCCCCAGGAGCGGC	0.637																																																0			6											44.0	51.0	49.0					6																	32029423		1116	2480	3596	32137401	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7243G>C	6.37:g.32029423C>G	ENSP00000364393:p.Gly2415Arg		32137401	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753972	0.69648	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04194	3.68;3.68	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000012	T	0.11623	0.0283	M	0.85710	2.77	0.32188	N	0.579491	D	0.76494	0.999	D	0.72625	0.978	T	0.10177	-1.0641	10	0.20519	T	0.43	.	13.1106	0.59270	0.0:1.0:0.0:0.0	.	2415	P22105-3	.	R	2415	ENSP00000364393:G2415R;ENSP00000364396:G2415R	ENSP00000364393:G2415R	G	-	1	0	TNXB	32137401	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.253000	0.58791	2.038000	0.60285	0.591000	0.81541	GGG		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		Missense_Mutation
PKD1L1	168507	broad.mit.edu	37	7	47851444	47851444	+	Missense_Mutation	SNP	C	C	T	rs143415023	byFrequency	TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr7:47851444C>T	ENST00000289672.2	-	50	7602	c.7552G>A	c.(7552-7554)Gcc>Acc	p.A2518T	C7orf69_ENST00000258776.4_Intron|PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2518					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A2518T(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACTGCAGGGCTGAGTCGCTG	0.612													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	7						C	,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	48.0	38.0	42.0		,7552	-0.3	0.0	7	dbSNP_134	42	0,8600		0,0,4300	no	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,2518/2850	47851444	1,13005	2203	4300	6503	47817969	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7552G>A	7.37:g.47851444C>T	ENSP00000289672:p.Ala2518Thr		47817969	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	SNP	28	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.511|5.511	0.279329|0.279329	0.10458|0.10458	2.27E-4|2.27E-4	0.0|0.0	ENSG00000158683|ENSG00000158683	ENST00000289672|ENST00000433506	T|T	0.69685|0.69561	-0.42|-0.41	5.32|5.32	-0.264|-0.264	0.12950|0.12950	Polycystin cation channel, PKD1/PKD2 (1);|.	1.386280|.	0.04760|.	N|.	0.426046|.	T|T	0.47930|0.47930	0.1472|0.1472	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	B|.	0.25772|.	0.134|.	B|.	0.24848|.	0.056|.	T|T	0.31916|0.31916	-0.9926|-0.9926	10|7	0.30078|0.13853	T|T	0.28|0.58	-2.2318|-2.2318	0.6599|0.6599	0.00841|0.00841	0.3228:0.3147:0.1262:0.2363|0.3228:0.3147:0.1262:0.2363	.|.	2518|.	Q8TDX9|.	PK1L1_HUMAN|.	T|N	2518|108	ENSP00000289672:A2518T|ENSP00000393466:S108N	ENSP00000289672:A2518T|ENSP00000393466:S108N	A|S	-|-	1|2	0|0	PKD1L1|PKD1L1	47817969|47817969	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.642000|-0.642000	0.05427|0.05427	-0.410000|-0.410000	0.07542|0.07542	0.453000|0.453000	0.30009|0.30009	GCC|AGC		0.612	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		Missense_Mutation
PPP1R9A	55607	broad.mit.edu	37	7	94897943	94897943	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr7:94897943G>C	ENST00000433881.1	+	12	3213	c.2681G>C	c.(2680-2682)aGa>aCa	p.R894T	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R894T|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R916T|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R894T|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R894T|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R894T			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	894	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGAAGAACAGACGCCAGAGA	0.478										HNSCC(28;0.073)																																						0			7											99.0	90.0	93.0					7																	94897943		2203	4300	6503	94735879	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2681G>C	7.37:g.94897943G>C	ENSP00000398870:p.Arg894Thr		94735879	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351160	0.24512	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.19394	2.15;2.32;2.16;2.32;2.27;2.16	5.58	4.62	0.57501	.	0.354855	0.28641	N	0.014635	T	0.10637	0.0260	N	0.19112	0.55	0.33230	D	0.555822	B;B;B;B;P	0.36465	0.037;0.099;0.057;0.181;0.554	B;B;B;B;B	0.31495	0.024;0.102;0.131;0.075;0.11	T	0.17592	-1.0364	10	0.72032	D	0.01	.	3.2293	0.06742	0.5447:0.0:0.4553:0.0	.	894;894;916;894;894	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	T	916;894;894;894;894;894	ENSP00000405514:R916T;ENSP00000344524:R894T;ENSP00000411342:R894T;ENSP00000398870:R894T;ENSP00000289495:R894T;ENSP00000402893:R894T	ENSP00000289495:R894T	R	+	2	0	PPP1R9A	94735879	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	5.579000	0.67457	1.402000	0.46780	0.655000	0.94253	AGA		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		Missense_Mutation
MYOM2	9172	broad.mit.edu	37	8	2046692	2046692	+	Silent	SNP	C	C	T	rs181752146	byFrequency	TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr8:2046692C>T	ENST00000262113.4	+	19	2460	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	MYOM2_ENST00000523438.1_Silent_p.D198D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	773	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D773D(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)		AATAGGTGGACGGCTTGACGG	0.488													C|||	19	0.00379393	0.0	0.0	5008	,	,		16415	0.0188		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	8											39.0	38.0	38.0					8																	2046692		2203	4300	6503	2034099	SO:0001819	synonymous_variant	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.2319C>T	8.37:g.2046692C>T			2034099	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1	SNP	19	Broad																																																																																				0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		Silent
DOCK5	80005	broad.mit.edu	37	8	25199955	25199955	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr8:25199955A>G	ENST00000276440.7	+	25	2593	c.2549A>G	c.(2548-2550)aAc>aGc	p.N850S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	850					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.N850S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATTCCTGACAACCAGCTGGTT	0.443																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - Missense(1)	ovary(1)	8											86.0	72.0	77.0					8																	25199955		2203	4300	6503	25255872	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2549A>G	8.37:g.25199955A>G	ENSP00000276440:p.Asn850Ser		25255872	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	SNP	2	Broad	.	.	.	.	.	.	.	.	.	.	A	6.289	0.421464	0.11928	.	.	ENSG00000147459	ENST00000276440	T	0.29397	1.57	4.58	4.58	0.56647	Armadillo-type fold (1);	0.324591	0.31660	N	0.007278	T	0.19005	0.0456	N	0.22421	0.69	0.29092	N	0.88204	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.10450	0.002;0.005;0.002	T	0.12502	-1.0545	10	0.09084	T	0.74	.	12.6666	0.56846	1.0:0.0:0.0:0.0	.	840;625;850	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	S	850	ENSP00000276440:N850S	ENSP00000276440:N850S	N	+	2	0	DOCK5	25255872	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.709000	0.47160	1.906000	0.55180	0.450000	0.29827	AAC		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		Missense_Mutation
PRKDC	5591	broad.mit.edu	37	8	48805847	48805847	+	Silent	SNP	C	C	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr8:48805847C>T	ENST00000314191.2	-	31	3755	c.3699G>A	c.(3697-3699)tcG>tcA	p.S1233S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.S1233S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1233					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S1233S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCAGGATGCCCGAGGGCTGGC	0.587								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - coding silent(1)	ovary(1)	8											28.0	30.0	29.0					8																	48805847		1898	4109	6007	48968400	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3699G>A	8.37:g.48805847C>T			48968400	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37		SNP	23	Broad																																																																																				0.587	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		Silent
SDC2	6383	broad.mit.edu	37	8	97605775	97605775	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr8:97605775T>G	ENST00000302190.4	+	2	1049	c.128T>G	c.(127-129)gTg>gGg	p.V43G	SDC2_ENST00000522911.1_Missense_Mutation_p.V14G|SDC2_ENST00000518385.1_Intron|SDC2_ENST00000519914.1_Missense_Mutation_p.V14G	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	43					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.V43G(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTTCAGGAGTGTATCCTATT	0.488																																																1	Substitution - Missense(1)	ovary(1)	8											153.0	118.0	130.0					8																	97605775		2203	4300	6503	97674951	SO:0001583	missense	6383			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.128T>G	8.37:g.97605775T>G	ENSP00000307046:p.Val43Gly		97674951	B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	CCDS6272.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012567	0.54468	.	.	ENSG00000169439	ENST00000302190;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.75	5.75	0.90469	.	0.426735	0.25572	N	0.029753	T	0.38268	0.1034	L	0.27053	0.805	0.80722	D	1	P	0.50443	0.935	P	0.49047	0.599	T	0.08207	-1.0733	10	0.24483	T	0.36	-14.9965	13.8671	0.63594	0.0:0.0:0.0:1.0	.	43	P34741	SDC2_HUMAN	G	43;43;33;14;14;14;14	ENSP00000307046:V43G;ENSP00000427784:V14G;ENSP00000428256:V14G;ENSP00000429121:V14G	ENSP00000307046:V43G	V	+	2	0	SDC2	97674951	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.485000	0.60279	2.320000	0.78422	0.528000	0.53228	GTG		0.488	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		Missense_Mutation
SCRIB	23513	broad.mit.edu	37	8	144891086	144891086	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr8:144891086A>T	ENST00000320476.3	-	15	1814	c.1808T>A	c.(1807-1809)aTc>aAc	p.I603N	SCRIB_ENST00000377533.3_Missense_Mutation_p.I522N|SCRIB_ENST00000356994.2_Missense_Mutation_p.I603N	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	603	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.I603N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCCTTGCGGATGAGCCGCTG	0.647																																					Pancreas(51;966 1133 10533 14576 29674)											1	Substitution - Missense(1)	ovary(1)	8											86.0	88.0	87.0					8																	144891086		2203	4300	6503	144963074	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1808T>A	8.37:g.144891086A>T	ENSP00000322938:p.Ile603Asn		144963074	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	a	16.82	3.227770	0.58668	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.39229	1.31;1.28;1.09	4.79	3.63	0.41609	.	.	.	.	.	T	0.57607	0.2065	M	0.68593	2.085	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53041	-0.8494	9	0.32370	T	0.25	.	9.5297	0.39187	0.9158:0.0:0.0842:0.0	.	603;603	Q14160;Q14160-3	SCRIB_HUMAN;.	N	603;603;522	ENSP00000349486:I603N;ENSP00000322938:I603N;ENSP00000366756:I522N	ENSP00000322938:I603N	I	-	2	0	SCRIB	144963074	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.943000	0.63554	0.696000	0.31696	0.330000	0.21533	ATC		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		Missense_Mutation
PTPRD	5789	broad.mit.edu	37	9	8331723	8331723	+	Missense_Mutation	SNP	C	C	T	rs367558329		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr9:8331723C>T	ENST00000381196.4	-	41	5936	c.5393G>A	c.(5392-5394)cGa>cAa	p.R1798Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1798Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1776Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1388Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1391Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1391Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1388Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1391Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1798Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1785Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1392Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1798	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1798Q(2)|p.R1269Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTTACTGTTCGGGACTGGCC	0.498										TSP Lung(15;0.13)																																						3	Substitution - Missense(3)	prostate(2)|ovary(1)	9											88.0	84.0	85.0					9																	8331723		2203	4300	6503	8321723	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5393G>A	9.37:g.8331723C>T	ENSP00000370593:p.Arg1798Gln		8321723	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	36	5.780857	0.96929	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.81341	2.54	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.998;0.998;0.994;0.997;1.0;1.0;0.999	D;D;D;D;P;D;D;D;D	0.83275	0.948;0.948;0.948;0.948;0.633;0.914;0.937;0.996;0.946	T	0.19614	-1.0300	9	.	.	.	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	1391;1382;1391;1392;1388;1388;1785;1798;1798	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1798;1798;1785;1776;1392;1391;1388;1388;1269;1798;1391;1391	ENSP00000370593:R1798Q;ENSP00000348812:R1798Q;ENSP00000353187:R1785Q;ENSP00000351293:R1776Q;ENSP00000347373:R1392Q;ENSP00000380741:R1391Q;ENSP00000380735:R1388Q;ENSP00000440515:R1388Q;ENSP00000438164:R1798Q;ENSP00000417093:R1391Q;ENSP00000380731:R1391Q	.	R	-	2	0	PTPRD	8321723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.788000	0.95919	0.555000	0.69702	CGA		0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			Missense_Mutation
IFNA13	3447	broad.mit.edu	37	9	21367904	21367904	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr9:21367904T>A	ENST00000449498.1	-	1	171	c.106A>T	c.(106-108)Agg>Tgg	p.R36W		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	35					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R35W(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGGTCCTCCTGTTATCCAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	9											30.0	36.0	34.0					9																	21367904		2197	4292	6489	21357904	SO:0001583	missense	3447				CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.106A>T	9.37:g.21367904T>A	ENSP00000394494:p.Arg36Trp		21357904	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	CCDS6505.2	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499350	0.26861	.	.	ENSG00000233816	ENST00000449498	T	0.03982	3.74	2.56	-2.09	0.07232	.	1.347050	0.04472	N	0.376316	T	0.08403	0.0209	L	0.56769	1.78	0.09310	N	1	B	0.26258	0.145	B	0.39299	0.296	T	0.48768	-0.9006	10	0.42905	T	0.14	.	2.8704	0.05615	0.377:0.1316:0.0:0.4913	.	36	E9PB07	.	W	36	ENSP00000394494:R36W	ENSP00000394494:R36W	R	-	1	2	IFNA13	21357904	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.867000	0.04241	-0.146000	0.11274	0.260000	0.18958	AGG		0.547	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		Missense_Mutation
TRPM3	80036	broad.mit.edu	37	9	73477872	73477872	+	Silent	SNP	A	A	C			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr9:73477872A>C	ENST00000377111.2	-	3	657	c.414T>G	c.(412-414)gcT>gcG	p.A138A	TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000377110.3_Silent_p.A138A|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000357533.2_Silent_p.A140A|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000423814.3_Silent_p.A140A|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000396292.4_5'Flank	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	138					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.A140A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGTCCCAAAAGCATCCGTAG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	9											200.0	196.0	197.0					9																	73477872		2203	4300	6503	72667692	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.414T>G	9.37:g.73477872A>C			72667692	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597401	0.28445	.	.	ENSG00000083067	ENST00000377097	.	.	.	5.95	3.64	0.41730	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55373	-0.8151	4	.	.	.	-3.684	8.9866	0.35997	0.7548:0.0:0.2452:0.0	.	.	.	.	R	28	.	.	L	-	2	0	TRPM3	72667692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.758000	0.26447	1.075000	0.40932	0.533000	0.62120	CTT		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		Silent
OR13C5	138799	broad.mit.edu	37	9	107360994	107360994	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr9:107360994C>A	ENST00000374779.2	-	1	794	c.701G>T	c.(700-702)aGa>aTa	p.R234I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGGTTTGCTTCTCCCCTCCGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											133.0	120.0	125.0					9																	107360994		2203	4300	6503	106400815	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.701G>T	9.37:g.107360994C>A	ENSP00000363911:p.Arg234Ile		106400815	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510096	0.64522	.	.	ENSG00000255800	ENST00000374779	T	0.00330	8.08	4.03	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001693	T	0.00815	0.0027	M	0.91717	3.235	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.37126	-0.9719	10	0.87932	D	0	.	6.8611	0.24067	0.0:0.7036:0.0:0.2964	.	234	Q8NGS8	O13C5_HUMAN	I	234	ENSP00000363911:R234I	ENSP00000363911:R234I	R	-	2	0	OR13C5	106400815	0.000000	0.05858	0.001000	0.08648	0.544000	0.35116	0.047000	0.14056	0.160000	0.19432	0.423000	0.28283	AGA		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		Missense_Mutation
ODF2	4957	broad.mit.edu	37	9	131233665	131233665	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr9:131233665C>G	ENST00000434106.3	+	6	862	c.499C>G	c.(499-501)Cac>Gac	p.H167D	ODF2_ENST00000448249.3_Missense_Mutation_p.H86D|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.H162D|ODF2_ENST00000393533.2_Missense_Mutation_p.H167D|ODF2_ENST00000372807.5_Missense_Mutation_p.H162D|ODF2_ENST00000604420.1_Missense_Mutation_p.H167D|ODF2_ENST00000372814.3_Missense_Mutation_p.H211D|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.H148D|ODF2_ENST00000393527.3_Missense_Mutation_p.H143D|ODF2_ENST00000372791.3_Missense_Mutation_p.H148D|ODF2_ENST00000444119.2_Missense_Mutation_p.H143D	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.H143D(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGGTGGCCCACGAACTGGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											177.0	155.0	163.0					9																	131233665		2203	4300	6503	130273486	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.499C>G	9.37:g.131233665C>G	ENSP00000403453:p.His167Asp		130273486	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865479	0.51588	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.99;1.01;1.99;1.01;1.01;1.01;1.01	5.98	5.98	0.97165	.	0.579096	0.20897	N	0.083703	T	0.36771	0.0979	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.18310	0.004;0.004;0.027;0.002;0.006;0.016;0.004;0.004;0.002;0.002	B;B;B;B;B;B;B;B;B;B	0.17098	0.006;0.004;0.017;0.002;0.009;0.009;0.004;0.006;0.003;0.002	T	0.17684	-1.0361	10	0.11485	T	0.65	-3.4897	19.0004	0.92830	0.0:1.0:0.0:0.0	.	148;162;86;101;167;211;162;148;167;143	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	D	167;211;162;167;143;86;86;143;167;148;148;91;148	ENSP00000377166:H167D;ENSP00000361901:H211D;ENSP00000342581:H162D;ENSP00000361882:H167D;ENSP00000307781:H143D;ENSP00000396687:H86D;ENSP00000394506:H143D;ENSP00000403453:H167D;ENSP00000437579:H148D;ENSP00000407852:H91D;ENSP00000361877:H148D	ENSP00000307781:H143D	H	+	1	0	ODF2	130273486	0.998000	0.40836	0.888000	0.34837	0.571000	0.35966	3.170000	0.50816	2.837000	0.97791	0.591000	0.81541	CAC		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			Missense_Mutation
NUP188	23511	broad.mit.edu	37	9	131742900	131742900	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chr9:131742900C>G	ENST00000372577.2	+	14	1306	c.1285C>G	c.(1285-1287)Ctt>Gtt	p.L429V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	429					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.L429V(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AACTTCTGGCCTTGGGATCAT	0.488																																																1	Substitution - Missense(1)	ovary(1)	9											149.0	126.0	134.0					9																	131742900		2203	4300	6503	130782721	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1285C>G	9.37:g.131742900C>G	ENSP00000361658:p.Leu429Val		130782721	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964280	0.53507	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.34472	1.36	5.54	4.63	0.57726	.	0.062112	0.64402	D	0.000006	T	0.44664	0.1304	L	0.29908	0.895	0.50313	D	0.99986	D	0.76494	0.999	D	0.80764	0.994	T	0.08827	-1.0703	10	0.25106	T	0.35	-12.6903	13.2425	0.60006	0.0:0.9237:0.0:0.0763	.	429	Q5SRE5	NU188_HUMAN	V	318;429	ENSP00000361658:L429V	ENSP00000349125:L318V	L	+	1	0	NUP188	130782721	0.998000	0.40836	0.997000	0.53966	0.943000	0.58893	3.448000	0.52943	2.764000	0.94973	0.655000	0.94253	CTT		0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			Missense_Mutation
ITGB1BP2	26548	broad.mit.edu	37	X	70522291	70522291	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chrX:70522291A>G	ENST00000373829.3	+	4	275	c.202A>G	c.(202-204)Aag>Gag	p.K68E	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.K50E	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	68					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.K68E(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CTGTGCTGAGAAGCTTCCTGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											64.0	61.0	62.0					X																	70522291		2203	4300	6503	70439016	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.202A>G	X.37:g.70522291A>G	ENSP00000362935:p.Lys68Glu		70439016	Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	CCDS14411.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	a	16.41	3.116400	0.56505	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.91	3.76	0.43208	.	0.047718	0.85682	D	0.000000	T	0.56124	0.1964	L	0.52011	1.625	0.49687	D	0.999819	B;D	0.56968	0.009;0.978	B;P	0.57776	0.005;0.827	T	0.58148	-0.7687	9	0.59425	D	0.04	-14.6922	5.7021	0.17887	0.8822:0.0:0.1178:0.0	.	50;68	Q32N04;Q9UKP3	.;ITBP2_HUMAN	E	68;50	.	ENSP00000362935:K68E	K	+	1	0	ITGB1BP2	70439016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.661000	0.54503	1.929000	0.55896	0.481000	0.45027	AAG		0.473	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		Missense_Mutation
AFF2	2334	broad.mit.edu	37	X	147919205	147919205	+	Missense_Mutation	SNP	C	C	T	rs200306870		TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2053-01	TCGA-09-2053-10	g.chrX:147919205C>T	ENST00000370460.2	+	5	1600	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	AFF2_ENST00000370457.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000286437.5_Intron|AFF2_ENST00000342251.3_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	374					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S374F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCACTTCCATGCATACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											174.0	137.0	150.0					X																	147919205		2203	4300	6503	147726897	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1121C>T	X.37:g.147919205C>T	ENSP00000359489:p.Ser374Phe		147726897	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217604	0.22373	.	.	ENSG00000155966	ENST00000370460	T	0.66995	-0.24	5.42	3.58	0.41010	.	0.379308	0.24954	N	0.034273	T	0.48040	0.1478	N	0.08118	0	0.80722	D	1	B;P	0.34815	0.415;0.47	B;B	0.38428	0.179;0.273	T	0.50013	-0.8877	10	0.87932	D	0	.	10.0962	0.42478	0.1544:0.7006:0.1451:0.0	.	370;374	P51816-5;P51816	.;AFF2_HUMAN	F	374	ENSP00000359489:S374F	ENSP00000359489:S374F	S	+	2	0	AFF2	147726897	1.000000	0.71417	0.990000	0.47175	0.180000	0.23129	2.234000	0.43035	0.438000	0.26450	-0.229000	0.12294	TCC		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		Missense_Mutation
KIAA0430	9665	broad.mit.edu	37	16	15705439	15705458	+	Splice_Site	DEL	ATCAACTCACCAGTGATAAG	ATCAACTCACCAGTGATAAG	-			TCGA-09-2053-01	TCGA-09-2053-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2053-01	TCGA-09-2053-10	g.chr16:15705439_15705458delATCAACTCACCAGTGATAAG	ENST00000396368.3	-	18	3814_3824	c.3608_3618delCTTATCACTGGTGAGTTGAT	c.(3607-3618)gcttatcactgg>g	p.AYHW1203fs	KIAA0430_ENST00000602337.1_Splice_Site_p.AYHW1200fs|KIAA0430_ENST00000344181.3_Splice_Site_p.AYHW805fs|KIAA0430_ENST00000551742.1_Splice_Site_p.AYHW1203fs|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Splice_Site_p.AYHW1038fs|KIAA0430_ENST00000548025.1_Splice_Site_p.AYHW1200fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1203	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.?(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGTTCTTTTCATCAACTCACCAGTGATAAGCCTGTGAGAA	0.373																																																2	Unknown(2)	ovary(1)|lung(1)	16																																								15612959	SO:0001630	splice_region_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3617+1CTTATCACTGGTGAGTTGAT>-	16.37:g.15705439_15705458delATCAACTCACCAGTGATAAG			15612940	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Splice_Site_Del	DEL	ENST00000396368.3	37	CCDS10562.2	DEL	8	Broad																																																																																				0.373	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	Frame_Shift_Del	Splice_Site_Del
