#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
SH3PXD2A	9644	broad.mit.edu	37	10	105361934	105361934	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr10:105361934C>T	ENST00000369774.4	-	15	3317	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R881Q|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R849Q|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R986Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1014					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.R986Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAGGAGTTCCGTCGGACGCC	0.667																																					p.R986Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2957A	10						.						47.0	52.0	50.0					10																	105361934		2203	4300	6503	105351924	SO:0001583	missense	9644	exon14			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3041G>A	10.37:g.105361934C>T	ENSP00000358789:p.Arg1014Gln		105351924	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.875163	0.91664	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000540321;ENST00000538130	T;T;T;T	0.61158	0.22;0.18;0.34;0.13	5.27	5.27	0.74061	.	0.202740	0.44097	D	0.000498	T	0.74007	0.3660	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.994;0.978;0.984;0.997	T	0.74711	-0.3573	10	0.52906	T	0.07	-22.3448	18.9012	0.92443	0.0:1.0:0.0:0.0	.	1014;863;859;986	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	Q	1014;986;821;881;849	ENSP00000358789:R1014Q;ENSP00000348215:R986Q;ENSP00000443663:R881Q;ENSP00000441514:R849Q	ENSP00000318135:R821Q	R	-	2	0	SH3PXD2A	105351924	1.000000	0.71417	0.963000	0.40424	0.900000	0.52787	7.807000	0.86032	2.463000	0.83235	0.561000	0.74099	CGG		0.667	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631	
SORCS1	114815	broad.mit.edu	37	10	108412183	108412183	+	Missense_Mutation	SNP	G	G	A	rs150967356	byFrequency	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr10:108412183G>A	ENST00000263054.6	-	18	2439	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V	SORCS1_ENST00000369698.1_Missense_Mutation_p.A346V|SORCS1_ENST00000344440.6_Missense_Mutation_p.A811V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A811V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTTGTTCCGCTGTCAGCTT	0.522																																					p.A811V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2432T	10						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	127.0	113.0	118.0		2432,2432,2432,2432,2432,2432	5.7	0.6	10	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	64,64,64,64,64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	811/1199,811/1180,811/1131,811/1160,811/1180,811/1169	108412183	2,13004	2203	4300	6503	108402173	SO:0001583	missense	114815	exon18			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2432C>T	10.37:g.108412183G>A	ENSP00000263054:p.Ala811Val		108402173	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517042	0.44763	0.0	2.33E-4	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.57273	0.41;0.41;0.41	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (2);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	N	0.25286	0.73	0.53688	D	0.999972	D;D;D;D;D	0.62365	0.991;0.972;0.988;0.991;0.988	D;P;P;D;P	0.63381	0.914;0.638;0.86;0.914;0.86	T	0.54833	-0.8234	9	.	.	.	-17.331	19.9145	0.97053	0.0:0.0:1.0:0.0	.	811;811;811;811;811	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	346;811;811	ENSP00000358712:A346V;ENSP00000263054:A811V;ENSP00000345964:A811V	.	A	-	2	0	SORCS1	108402173	1.000000	0.71417	0.629000	0.29254	0.272000	0.26649	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	GCG		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
CTNNA3	29119	broad.mit.edu	37	10	67680163	67680163	+	Silent	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr10:67680163G>A	ENST00000433211.2	-	18	2787	c.2613C>T	c.(2611-2613)gtC>gtT	p.V871V	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.V871V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.V871V(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCCTCGTCTGACAGCTGCAC	0.453																																					p.V871V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2613T	10						.						126.0	127.0	127.0					10																	67680163		2203	4300	6503	67350169	SO:0001819	synonymous_variant	29119	exon18			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2613C>T	10.37:g.67680163G>A			67350169	NM_013266		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.453	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
INPP5A	3632	broad.mit.edu	37	10	134523915	134523915	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr10:134523915T>C	ENST00000368594.3	+	8	879	c.602T>C	c.(601-603)gTg>gCg	p.V201A	INPP5A_ENST00000368593.3_Missense_Mutation_p.V201A|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	201					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.V201A(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGCCCTTCCGTGTACTCGGGA	0.572																																					p.V201A	Pancreas(63;823 1267 11107 20380 51626)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T602C	10						.						89.0	70.0	77.0					10																	134523915		2203	4300	6503	134373905	SO:0001583	missense	3632	exon8			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.602T>C	10.37:g.134523915T>C	ENSP00000357583:p.Val201Ala		134373905	NM_005539	D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	T	16.98	3.272375	0.59649	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000536599;ENST00000432898;ENST00000423490	T;T;T	0.78126	-1.15;-1.15;0.98	4.56	4.56	0.56223	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.130564	0.51477	D	0.000095	T	0.74253	0.3692	M	0.72118	2.19	0.80722	D	1	B;B;P	0.42456	0.147;0.201;0.78	B;B;B	0.40285	0.167;0.089;0.325	T	0.72852	-0.4167	10	0.09084	T	0.74	-9.9591	14.2835	0.66228	0.0:0.0:0.0:1.0	.	201;201;201	F5GWM1;Q14642;Q5T1B5	.;I5P1_HUMAN;.	A	201;201;201;138;118;124	ENSP00000357583:V201A;ENSP00000357582:V201A;ENSP00000390936:V124A	ENSP00000357582:V201A	V	+	2	0	INPP5A	134373905	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	3.351000	0.52232	1.849000	0.53698	0.529000	0.55759	GTG		0.572	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	
MICAL2	9645	broad.mit.edu	37	11	12277238	12277239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:12277238_12277239insG	ENST00000256194.4	+	23	3184_3185	c.2896_2897insG	c.(2896-2898)ctgfs	p.L966fs	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Frame_Shift_Ins_p.L776fs|MICAL2_ENST00000537344.1_Frame_Shift_Ins_p.L776fs|MICAL2_ENST00000342902.5_Frame_Shift_Ins_p.L945fs	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	966					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGCTGAAGTCCTGGTCAATCTG	0.554																																					p.L966fs												.	.	0			c.2896_2897insG	11						.																																			12233815	SO:0001589	frameshift_variant	9645	exon23			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	Exception_encountered	11.37:g.12277238_12277239insG	ENSP00000256194:p.Leu966fs		12233814	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Frame_Shift_Ins	INS	ENST00000256194.4	37	CCDS7809.1																																																																																				0.554	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
ADAMTS8	11095	broad.mit.edu	37	11	130281316	130281317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:130281316_130281317insG	ENST00000257359.6	-	6	2451_2452	c.1745_1746insC	c.(1744-1746)cctfs	p.P582fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	582					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D583fs*1(1)|p.P583fs*61(1)|p.P582fs*61(1)|p.P611fs*61(1)|p.D584fs*1(1)|p.D612fs*1(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AATTACCGTCAGGGGGGCATTC	0.574																																					p.P582fs												.	.	6	Deletion - Frameshift(3)|Insertion - Frameshift(3)	large_intestine(3)|lung(3)	c.1746_1747insC	11						.																																			129786527	SO:0001589	frameshift_variant	11095	exon6			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1746dupC	11.37:g.130281322_130281322dupG	ENSP00000257359:p.Pro582fs		129786526	NM_007037	Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	CCDS41732.1																																																																																				0.574	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
NR1H3	10062	broad.mit.edu	37	11	47283270	47283270	+	Missense_Mutation	SNP	C	C	T	rs556085486		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:47283270C>T	ENST00000467728.1	+	5	2119	c.881C>T	c.(880-882)gCg>gTg	p.A294V	NR1H3_ENST00000441012.2_Missense_Mutation_p.A294V|NR1H3_ENST00000395397.3_Missense_Mutation_p.A249V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000481889.2_Missense_Mutation_p.A249V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	294	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A294V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGACCTCTGCGATCGAGGTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19643	0.0		0.001	False		,,,				2504	0.0				p.A249V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	11						.						51.0	50.0	50.0					11																	47283270		2201	4298	6499	47239846	SO:0001583	missense	10062	exon5			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.881C>T	11.37:g.47283270C>T	ENSP00000420656:p.Ala294Val		47239846	NM_001130102	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033620	0.75504	.	.	ENSG00000025434	ENST00000395397;ENST00000481889;ENST00000441012;ENST00000467728	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.66	5.66	0.87406	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.260649	0.44097	D	0.000485	D	0.92381	0.7582	L	0.28776	0.89	0.80722	D	1	P;P;B	0.47409	0.895;0.639;0.242	B;B;B	0.32805	0.09;0.05;0.153	D	0.93343	0.6711	10	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	300;294;249	B4DXU5;Q13133;E9PLL4	.;NR1H3_HUMAN;.	V	249;249;294;294	ENSP00000378793:A249V;ENSP00000433271:A249V;ENSP00000387946:A294V;ENSP00000420656:A294V	ENSP00000378793:A249V	A	+	2	0	NR1H3	47239846	1.000000	0.71417	0.933000	0.37362	0.837000	0.47467	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GCG		0.577	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3		
OR4A16	81327	broad.mit.edu	37	11	55111023	55111023	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:55111023T>C	ENST00000314721.2	+	1	397	c.347T>C	c.(346-348)aTg>aCg	p.M116T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M116T(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGGTGGTGATGGCCTATGAT	0.458																																					p.M116T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T347C	11						.						193.0	179.0	184.0					11																	55111023		2201	4296	6497	54867599	SO:0001583	missense	81327	exon1			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.347T>C	11.37:g.55111023T>C	ENSP00000325128:p.Met116Thr		54867599	NM_001005274	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	12.75	2.030804	0.35797	.	.	ENSG00000181961	ENST00000314721	T	0.01145	5.27	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08714	0.0216	H	0.95780	3.72	0.35618	D	0.809206	D	0.63880	0.993	D	0.67382	0.951	T	0.03566	-1.1024	9	0.87932	D	0	.	8.6087	0.33789	0.0:0.0:0.0:1.0	.	116	Q8NH70	O4A16_HUMAN	T	116	ENSP00000325128:M116T	ENSP00000325128:M116T	M	+	2	0	OR4A16	54867599	1.000000	0.71417	0.988000	0.46212	0.453000	0.32348	6.516000	0.73755	1.186000	0.42985	0.346000	0.21813	ATG		0.458	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR8H2	390151	broad.mit.edu	37	11	55873184	55873184	+	Silent	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:55873184C>G	ENST00000313503.1	+	1	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L222L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTTCATTCTCTTTACCATCC	0.403										HNSCC(53;0.14)																											p.L222L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666G	11						.						149.0	140.0	143.0					11																	55873184		2201	4296	6497	55629760	SO:0001819	synonymous_variant	390151	exon1			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.666C>G	11.37:g.55873184C>G			55629760	NM_001005200	Q6IFC1	Silent	SNP	ENST00000313503.1	37	CCDS31518.1																																																																																				0.403	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
NXF1	10482	broad.mit.edu	37	11	62561846	62561846	+	Silent	SNP	G	G	A	rs201533876		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:62561846G>A	ENST00000532297.1	-	20	2273	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	TMEM223_ENST00000307366.7_5'Flank|NXF1_ENST00000294172.2_Silent_p.F548F|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	548					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F548F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGCATAGCGAAGGCTCTTT	0.507																																					p.F548F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1644T	11						.						122.0	114.0	117.0					11																	62561846		2201	4299	6500	62318422	SO:0001819	synonymous_variant	10482	exon19			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1644C>T	11.37:g.62561846G>A			62318422	NM_006362	B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129614	0.21041	.	.	ENSG00000162231	ENST00000527902	.	.	.	5.38	-5.13	0.02884	.	.	.	.	.	T	0.63189	0.2490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64592	-0.6371	4	.	.	.	-20.0184	14.8462	0.70261	0.7716:0.0:0.2284:0.0	.	.	.	.	L	53	.	.	S	-	2	0	NXF1	62318422	0.005000	0.15991	0.922000	0.36590	0.955000	0.61496	-1.028000	0.03589	-0.845000	0.04179	-0.355000	0.07637	TCG		0.507	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
C2CD3	26005	broad.mit.edu	37	11	73748611	73748611	+	Silent	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:73748611C>G	ENST00000334126.7	-	30	6019	c.5793G>C	c.(5791-5793)ggG>ggC	p.G1931G	C2CD3_ENST00000313663.7_Silent_p.G1931G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1931					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.G1931G(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGCACCTGGCCCAAGATGGT	0.557																																					p.G1931G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5793C	11						.						127.0	118.0	121.0					11																	73748611		2200	4293	6493	73426259	SO:0001819	synonymous_variant	26005	exon30			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5793G>C	11.37:g.73748611C>G			73426259	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	0.729	-0.780583	0.02929	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.96	-4.82	0.03171	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	0.7136	0.3665	0.00372	0.3002:0.2699:0.1523:0.2777	.	.	.	.	P	140	.	.	A	-	1	0	C2CD3	73426259	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.354000	0.02614	-0.582000	0.05929	-0.825000	0.03093	GCC		0.557	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
FAT3	120114	broad.mit.edu	37	11	92087132	92087132	+	Silent	SNP	A	A	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr11:92087132A>T	ENST00000298047.6	+	1	1871	c.1854A>T	c.(1852-1854)ggA>ggT	p.G618G	FAT3_ENST00000409404.2_Silent_p.G618G|FAT3_ENST00000541502.1_Silent_p.G618G|FAT3_ENST00000525166.1_Silent_p.G468G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G618G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTTCTGGAAATGAACTTG	0.358										TCGA Ovarian(4;0.039)																											p.G618G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1854T	11						.						38.0	39.0	39.0					11																	92087132		1841	4084	5925	91726780	SO:0001819	synonymous_variant	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1854A>T	11.37:g.92087132A>T			91726780	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.358	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
ANKRD52	283373	broad.mit.edu	37	12	56646027	56646028	+	In_Frame_Ins	INS	-	-	CCT			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:56646027_56646028insCCT	ENST00000267116.7	-	14	1563_1564	c.1442_1443insAGG	c.(1441-1443)ggt>ggAGGt	p.481_481G>GG		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	481								p.G481_V482insG(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCTCGTTGACACCTGCCCCAGC	0.584																																					p.G481delinsGG												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.1443_1444insAGG	12						.																																			54932295	SO:0001652	inframe_insertion	283373	exon14			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1440_1442dupAGG	12.37:g.56646028_56646030dupCCT	ENSP00000267116:p.Gly481dup		54932294	NM_173595	A6NE79|B1Q2K2	In_Frame_Ins	INS	ENST00000267116.7	37	CCDS44920.1																																																																																				0.584	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
TAS2R13	50838	broad.mit.edu	37	12	11061719	11061719	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:11061719C>G	ENST00000390677.2	-	1	442	c.179G>C	c.(178-180)tGg>tCg	p.W60S	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	60					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.W60S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TAATATTTCCCAGATCAGCCC	0.373																																					p.W60S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179C	12						.						67.0	65.0	66.0					12																	11061719		2203	4300	6503	10952986	SO:0001583	missense	50838	exon1			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.179G>C	12.37:g.11061719C>G	ENSP00000375095:p.Trp60Ser		10952986	NM_023920	Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574694	0.13623	.	.	ENSG00000212128	ENST00000390677	T	0.00856	5.61	3.3	2.37	0.29283	.	0.361353	0.18015	U	0.154428	T	0.04363	0.0120	M	0.80616	2.505	0.20074	N	0.999935	D	0.61080	0.989	D	0.70016	0.967	T	0.14117	-1.0484	10	0.87932	D	0	.	7.6637	0.28417	0.2527:0.7473:0.0:0.0	.	60	Q9NYV9	T2R13_HUMAN	S	60	ENSP00000375095:W60S	ENSP00000375095:W60S	W	-	2	0	TAS2R13	10952986	0.000000	0.05858	0.032000	0.17829	0.038000	0.13279	0.172000	0.16704	0.662000	0.31006	0.655000	0.94253	TGG		0.373	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1		
HSP90B1	7184	broad.mit.edu	37	12	104340405	104340405	+	Silent	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:104340405G>A	ENST00000299767.5	+	15	2219	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	679					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.A679A(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTTACTATGCGAGTCAGAAGA	0.348																																					p.A679A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2037A	12						.						74.0	77.0	76.0					12																	104340405		2203	4300	6503	102864535	SO:0001819	synonymous_variant	7184	exon15			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2037G>A	12.37:g.104340405G>A			102864535	NM_003299	Q96A97	Silent	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	6.986	0.551967	0.13374	.	.	ENSG00000166598	ENST00000550595	.	.	.	5.53	0.622	0.17648	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22626	-1.0211	4	.	.	.	.	2.1281	0.03743	0.4125:0.3082:0.1039:0.1754	.	.	.	.	Q	30	.	.	R	+	2	0	HSP90B1	102864535	0.138000	0.22547	0.999000	0.59377	0.667000	0.39255	-0.471000	0.06631	0.124000	0.18369	-3.039000	0.00071	CGA		0.348	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
FOXM1	2305	broad.mit.edu	37	12	2975621	2975621	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:2975621C>G	ENST00000359843.3	-	5	981	c.913G>C	c.(913-915)Gtc>Ctc	p.V305L	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.V305L|FOXM1_ENST00000342628.2_Missense_Mutation_p.V305L	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	305					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V305L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAGAAGGAGACCTTGCCATTG	0.512																																					p.V305L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913C	12						.						109.0	97.0	101.0					12																	2975621		2203	4300	6503	2845882	SO:0001583	missense	2305	exon5			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.913G>C	12.37:g.2975621C>G	ENSP00000352901:p.Val305Leu		2845882	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120973|3.120973	0.56613|0.56613	.|.	.|.	ENSG00000111206|ENSG00000111206	ENST00000535350|ENST00000342628;ENST00000361953;ENST00000359843	.|D;D;D	.|0.95377	.|-3.69;-3.69;-3.69	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	.|0.306449	.|0.35466	.|N	.|0.003192	D|D	0.90130|0.90130	0.6916|0.6916	N|N	0.17474|0.17474	0.49|0.49	0.45161|0.45161	D|D	0.99817|0.99817	.|B;B;B;B;B	.|0.16802	.|0.005;0.006;0.004;0.006;0.019	.|B;B;B;B;B	.|0.22152	.|0.021;0.038;0.012;0.038;0.037	D|D	0.85073|0.85073	0.0941|0.0941	5|10	.|0.27785	.|T	.|0.31	.|.	12.6279|12.6279	0.56640|0.56640	0.0:0.9176:0.0:0.0824|0.0:0.9176:0.0:0.0824	.|.	.|304;305;305;305;305	.|A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.|.;.;.;FOXM1_HUMAN;.	A|L	29|305	.|ENSP00000342307:V305L;ENSP00000354492:V305L;ENSP00000352901:V305L	.|ENSP00000342307:V305L	G|V	-|-	2|1	0|0	FOXM1|FOXM1	2845882|2845882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.457000|2.457000	0.45005|0.45005	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GGT|GTC		0.512	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
ACVR1B	91	broad.mit.edu	37	12	52385658	52385658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:52385658G>A	ENST00000257963.4	+	8	1350	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.E466K|ACVR1B_ENST00000426655.2_Missense_Mutation_p.E425K|ACVR1B_ENST00000542485.1_Missense_Mutation_p.E373K	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.E466K(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AGTCCATGAAGAATATCAGCT	0.453																																					p.E373K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1117A	12						.						147.0	138.0	141.0					12																	52385658		2203	4300	6503	50671925	SO:0001583	missense	91	exon8				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1273G>A	12.37:g.52385658G>A	ENSP00000257963:p.Glu425Lys		50671925	NM_020327	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344554	0.82022	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000542485	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	4.0	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052407	0.85682	D	0.000000	D	0.95310	0.8478	L	0.60904	1.88	0.80722	D	1	B;D;B	0.56521	0.11;0.976;0.338	B;P;B	0.62298	0.197;0.9;0.187	D	0.95820	0.8849	10	0.87932	D	0	.	17.491	0.87703	0.0:0.0:1.0:0.0	.	466;425;425	P36896-4;P36896;P36896-2	.;ACV1B_HUMAN;.	K	425;466;425;373	ENSP00000257963:E425K;ENSP00000442656:E466K;ENSP00000390477:E425K;ENSP00000442885:E373K	ENSP00000257963:E425K	E	+	1	0	ACVR1B	50671925	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.551000	0.98112	2.537000	0.85549	0.449000	0.29647	GAA		0.453	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	
KRT78	196374	broad.mit.edu	37	12	53241719	53241719	+	Missense_Mutation	SNP	G	G	A	rs200710984		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:53241719G>A	ENST00000304620.4	-	2	634	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	KRT78_ENST00000359499.4_Missense_Mutation_p.R81W	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	191	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R191W(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCTGGTCCCGGCAGGCCTTC	0.592																																					p.R191W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C571T	12						.						76.0	79.0	78.0					12																	53241719		2203	4300	6503	51527986	SO:0001583	missense	196374	exon2			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.571C>T	12.37:g.53241719G>A	ENSP00000306261:p.Arg191Trp		51527986	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716285	0.68844	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;D	0.91295	-2.82;-2.82	5.21	5.21	0.72293	Filament (1);	0.964547	0.08386	N	0.953706	D	0.94195	0.8137	M	0.72118	2.19	0.34708	D	0.72741	D	0.76494	0.999	P	0.60012	0.867	D	0.92239	0.5799	10	0.87932	D	0	.	12.1947	0.54290	0.0835:0.0:0.9165:0.0	.	191	Q8N1N4	K2C78_HUMAN	W	81;191	ENSP00000352479:R81W;ENSP00000306261:R191W	ENSP00000306261:R191W	R	-	1	2	KRT78	51527986	0.094000	0.21725	0.924000	0.36721	0.402000	0.30811	2.744000	0.47450	2.602000	0.87976	0.555000	0.69702	CGG		0.592	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352	
RARG	5916	broad.mit.edu	37	12	53609169	53609169	+	Missense_Mutation	SNP	C	C	T	rs141058411		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:53609169C>T	ENST00000425354.2	-	5	870	c.383G>A	c.(382-384)cGc>cAc	p.R128H	RARG_ENST00000394426.1_Missense_Mutation_p.R128H|RARG_ENST00000338561.5_Missense_Mutation_p.R117H|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.R56H|RARG_ENST00000543726.1_Missense_Mutation_p.R106H	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	128					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R128H(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GTTTTTGTCGCGGTGACACGT	0.532																																					p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	12						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	247.0	191.0	210.0		383,350	4.4	1.0	12	dbSNP_134	210	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RARG	NM_000966.5,NM_001042728.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	128/455,117/444	53609169	1,13005	2203	4300	6503	51895436	SO:0001583	missense	5916	exon5			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.383G>A	12.37:g.53609169C>T	ENSP00000388510:p.Arg128His		51895436	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437021	0.83885	0.0	1.16E-4	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	4.45	4.45	0.53987	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	L	0.33339	1.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.76575	0.988;0.975;0.939;0.977	D	0.97757	1.0218	10	0.62326	D	0.03	.	16.3946	0.83586	0.0:1.0:0.0:0.0	.	165;106;128;117	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	H	128;128;56;117;106;165	ENSP00000388510:R128H;ENSP00000377947:R128H;ENSP00000332695:R56H;ENSP00000343698:R117H;ENSP00000444335:R106H	ENSP00000332695:R56H	R	-	2	0	RARG	51895436	1.000000	0.71417	0.973000	0.42090	0.740000	0.42216	7.590000	0.82653	2.471000	0.83476	0.591000	0.81541	CGC		0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966	
ITGA5	3678	broad.mit.edu	37	12	54799461	54799461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:54799461C>T	ENST00000293379.4	-	11	1264	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	335					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.V335I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCCCATTGACGTCTGTGGCG	0.547																																					p.V335I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003A	12						.						85.0	73.0	77.0					12																	54799461		2203	4300	6503	53085728	SO:0001583	missense	3678	exon11				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1003G>A	12.37:g.54799461C>T	ENSP00000293379:p.Val335Ile		53085728	NM_002205	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.429891	0.01117	.	.	ENSG00000161638	ENST00000293379	T	0.68331	-0.32	4.36	-8.71	0.00848	.	0.656550	0.14516	N	0.314777	T	0.28001	0.0690	N	0.02658	-0.545	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.28776	-1.0033	10	0.06099	T	0.92	.	10.7933	0.46445	0.0:0.465:0.3409:0.1941	.	335	P08648	ITA5_HUMAN	I	335	ENSP00000293379:V335I	ENSP00000293379:V335I	V	-	1	0	ITGA5	53085728	0.018000	0.18449	0.011000	0.14972	0.525000	0.34531	-1.069000	0.03444	-2.783000	0.00359	-1.852000	0.00566	GTC		0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
HSD17B6	8630	broad.mit.edu	37	12	57181068	57181069	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	CA	CA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:57181068_57181069CA>TG	ENST00000554643.1	+	6	1245_1246	c.896_897CA>TG	c.(895-897)aCA>aTG	p.T299M	HSD17B6_ENST00000322165.1_Missense_Mutation_p.T299M|HSD17B6_ENST00000555159.1_Missense_Mutation_p.T299M|HSD17B6_ENST00000555805.1_Missense_Mutation_p.T299M|HSD17B6_ENST00000554150.1_Missense_Mutation_p.T299M			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	299					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.T299>?(1)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TATTTACCTACATCACTGGCAG	0.455																																					.												.	.	1	Complex(1)	large_intestine(1)	c.896_897TG	12						.																																			55467336	SO:0001583	missense	8630	exon5			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	Exception_encountered	12.37:g.57181068_57181069delinsTG	ENSP00000451406:p.Thr299Met		55467335	NM_003725	O43275	Missense_Mutation	DNP	ENST00000554643.1	37	CCDS8925.1																																																																																				0.455	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725	
LRRIQ1	84125	broad.mit.edu	37	12	85449375	85449375	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:85449375T>G	ENST00000393217.2	+	8	865	c.804T>G	c.(802-804)ttT>ttG	p.F268L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	268	Glu-rich.							p.F268L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAACAAGATTTAAAGACCAAC	0.284																																					p.F268L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T804G	12						.						23.0	25.0	25.0					12																	85449375		2134	4233	6367	83973506	SO:0001583	missense	84125	exon8			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.804T>G	12.37:g.85449375T>G	ENSP00000376910:p.Phe268Leu		83973506	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.713|8.713	0.912488|0.912488	0.17907|0.17907	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217|ENST00000533414	T|.	0.56444|.	0.46|.	5.27|5.27	-2.98|-2.98	0.05513|0.05513	.|.	0.463681|.	0.21847|.	N|.	0.068230|.	T|.	0.13457|.	0.0326|.	N|N	0.10707|0.10707	0.03|0.03	0.24173|0.24173	N|N	0.995618|0.995618	B;B|.	0.16802|.	0.004;0.019|.	B;B|.	0.12837|.	0.007;0.008|.	T|.	0.25950|.	-1.0117|.	10|.	0.06757|.	T|.	0.87|.	.|.	3.0005|3.0005	0.06012|0.06012	0.0981:0.1415:0.2905:0.4698|0.0981:0.1415:0.2905:0.4698	.|.	268;243|.	Q96JM4;C9JI57|.	LRIQ1_HUMAN;.|.	L|X	268;243;268|141	ENSP00000376910:F268L|.	ENSP00000256007:F268L|.	F|L	+|+	3|2	2|0	LRRIQ1|LRRIQ1	83973506|83973506	0.998000|0.998000	0.40836|0.40836	0.880000|0.880000	0.34516|0.34516	0.541000|0.541000	0.35023|0.35023	0.192000|0.192000	0.17096|0.17096	-0.262000|-0.262000	0.09392|0.09392	0.260000|0.260000	0.18958|0.18958	TTT|TTA		0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
RPH3A	22895	broad.mit.edu	37	12	113307760	113307760	+	Missense_Mutation	SNP	G	G	A	rs140680955		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:113307760G>A	ENST00000389385.4	+	10	1209	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RPH3A_ENST00000415485.3_Missense_Mutation_p.E238K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E238K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.E189K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E189K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E238K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E234K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	238	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.E234K(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGGGCCTCCGAGGCACGAAT	0.612																																					p.E234K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	12						.	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	59.0	61.0	60.0		712,700	5.7	1.0	12	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	238/695,234/691	113307760	1,13005	2203	4300	6503	111792143	SO:0001583	missense	22895	exon9			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.712G>A	12.37:g.113307760G>A	ENSP00000374036:p.Glu238Lys		111792143	NM_014954	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752209	0.89753	2.27E-4	0.0	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000008	T	0.69214	0.3086	L	0.55481	1.735	0.48762	D	0.999709	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.981;0.981;0.992	T	0.61530	-0.7044	10	0.10377	T	0.69	.	16.7844	0.85570	0.0:0.0:1.0:0.0	.	189;238;238;234	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	238;238;189;234;238;189;238	ENSP00000440384:E238K;ENSP00000374036:E238K;ENSP00000413254:E189K;ENSP00000448297:E234K;ENSP00000405357:E238K;ENSP00000450347:E189K;ENSP00000408889:E238K	ENSP00000374036:E238K	E	+	1	0	RPH3A	111792143	1.000000	0.71417	0.991000	0.47740	0.578000	0.36192	5.240000	0.65378	2.709000	0.92574	0.655000	0.94253	GAG		0.612	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
P2RX7	5027	broad.mit.edu	37	12	121622457	121622457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:121622457delA	ENST00000546057.1	+	13	1783	c.1640delA	c.(1639-1641)cacfs	p.H547fs	P2RX7_ENST00000541446.1_Frame_Shift_Del_p.H258fs|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Frame_Shift_Del_p.H377fs|RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000535250.1_Frame_Shift_Del_p.H457fs	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	547					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)	p.H547fs*>49(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGCTGCGGCACTGTGCCTAC	0.632																																					p.H547fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1640delA	12						.						18.0	15.0	16.0					12																	121622457		2201	4299	6500	120106840	SO:0001589	frameshift_variant	5027	exon13			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1640delA	12.37:g.121622457delA	ENSP00000442349:p.His547fs		120106840	NM_002562	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Frame_Shift_Del	DEL	ENST00000546057.1	37	CCDS9213.1																																																																																				0.632	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562	
TFCP2	7024	broad.mit.edu	37	12	51495742	51495748	+	Frame_Shift_Del	DEL	CTGATTC	CTGATTC	-			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	CTGATTC	CTGATTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr12:51495742_51495748delCTGATTC	ENST00000257915.5	-	11	1579_1585	c.1121_1127delGAATCAG	c.(1120-1128)ggaatcagafs	p.GIR374fs	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.GIR323fs|TFCP2_ENST00000307660.4_Frame_Shift_Del_p.GIR323fs	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	374	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G374fs*6(1)|p.R376T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATTAAAAAGTCTGATTCCATCTGCAGG	0.338																																					p.374_376del												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.1121_1127del	12						.																																			49782015	SO:0001589	frameshift_variant	7024	exon11			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1121_1127delGAATCAG	12.37:g.51495742_51495748delCTGATTC	ENSP00000257915:p.Gly374fs		49782009	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Frame_Shift_Del	DEL	ENST00000257915.5	37	CCDS8808.1																																																																																				0.338	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
DOCK9	23348	broad.mit.edu	37	13	99534251	99534251	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr13:99534251G>A	ENST00000376460.1	-	24	2650	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A857V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A869V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A858V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	858					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A869V(1)|p.A858V(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCTTCCATCGCATGCAGACT	0.488																																					p.A857V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2570T	13						.						96.0	94.0	95.0					13																	99534251		2147	4242	6389	98332252	SO:0001583	missense	23348	exon24			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2570C>T	13.37:g.99534251G>A	ENSP00000365643:p.Ala857Val		98332252	NM_001130050	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550668	0.65311	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.67171	-0.25;-0.25;1.94;1.98	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.69523	2.12	0.80722	D	1	B;P;B;B;P	0.49783	0.187;0.926;0.347;0.326;0.928	B;P;B;B;B	0.45538	0.065;0.484;0.148;0.036;0.288	T	0.76903	-0.2787	10	0.72032	D	0.01	.	19.7174	0.96129	0.0:0.0:1.0:0.0	.	858;857;857;857;858	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	V	857;858;858;858;857;858;869;857	ENSP00000365643:A857V;ENSP00000341086:A858V;ENSP00000401958:A869V;ENSP00000406883:A857V	ENSP00000341086:A858V	A	-	2	0	DOCK9	98332252	1.000000	0.71417	0.203000	0.23512	0.084000	0.17831	9.452000	0.97615	2.653000	0.90120	0.655000	0.94253	GCG		0.488	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
Unknown	0	broad.mit.edu	37	14	106770438	106770439	+	IGR	INS	-	-	CT	rs201826648|rs375833692	byFrequency	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr14:106770438_106770439insCT								IGHV2-26 (12322 upstream) : IGHV4-28 (10073 downstream)																							CCTGGCCCAGCCTCTCTTGGCT	0.52														159	0.0317492	0.1074	0.0101	5008	,	,		13768	0.001		0.001	False		,,,				2504	0.0082				.												.	.	0			.	14						.																																			105841484	SO:0001628	intergenic_variant	8755	.																															14.37:g.106770443_106770444dupCT			105841483	.		Splice_Site	INS		37																																																																																				0	0.520								
LRRC16B	90668	broad.mit.edu	37	14	24523642	24523642	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr14:24523642G>A	ENST00000342740.5	+	5	438	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	95						cytoplasm (GO:0005737)		p.R95Q(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTGAGCATGCGACTGCCATCA	0.617																																					p.R95Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	14						.						97.0	87.0	90.0					14																	24523642		2203	4300	6503	23593482	SO:0001583	missense	90668	exon5			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.284G>A	14.37:g.24523642G>A	ENSP00000340467:p.Arg95Gln		23593482	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483851	0.63962	.	.	ENSG00000186648	ENST00000342740	T	0.14893	2.47	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000006	T	0.16727	0.0402	M	0.65498	2.005	0.80722	D	1	D	0.59357	0.985	B	0.35413	0.202	T	0.07751	-1.0756	10	0.37606	T	0.19	-20.4365	13.4743	0.61299	0.0:0.0:1.0:0.0	.	95	Q8ND23	LR16B_HUMAN	Q	95	ENSP00000340467:R95Q	ENSP00000340467:R95Q	R	+	2	0	LRRC16B	23593482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.086000	0.30853	2.305000	0.77605	0.462000	0.41574	CGA		0.617	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
PRKD1	5587	broad.mit.edu	37	14	30102145	30102145	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr14:30102145C>T	ENST00000331968.5	-	9	1551	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.R449Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	441	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R441Q(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAATAGTGCCGTTTCCGCTG	0.373																																					p.R441Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1322A	14						.						147.0	139.0	142.0					14																	30102145		2203	4300	6503	29171896	SO:0001583	missense	5587	exon9				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1322G>A	14.37:g.30102145C>T	ENSP00000333568:p.Arg441Gln		29171896	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383431	0.95967	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.32988	1.43;1.43;1.43	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.48642	0.1511	M	0.86268	2.805	0.80722	D	1	P	0.52316	0.952	P	0.46208	0.507	T	0.59878	-0.7371	10	0.72032	D	0.01	-12.9733	19.4402	0.94817	0.0:1.0:0.0:0.0	.	441	Q15139	KPCD1_HUMAN	Q	441;449;22	ENSP00000333568:R441Q;ENSP00000390535:R449Q;ENSP00000447333:R22Q	ENSP00000333568:R441Q	R	-	2	0	PRKD1	29171896	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.661000	0.83786	2.665000	0.90641	0.561000	0.74099	CGG		0.373	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
RAD51B	5890	broad.mit.edu	37	14	68934913	68934913	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr14:68934913G>T	ENST00000487270.1	+	10	1030	c.982G>T	c.(982-984)Gct>Tct	p.A328S	RAD51B_ENST00000487861.1_Missense_Mutation_p.A328S|RAD51B_ENST00000471583.1_Missense_Mutation_p.A328S|RAD51B_ENST00000488612.1_Missense_Mutation_p.A328S|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000390683.3_Missense_Mutation_p.A328S	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	328					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)	p.A328S(2)	HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCCCCTCTGGCTCCCTTCAC	0.458								Direct reversal of damage																													p.A328S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G982T	14						.						215.0	184.0	195.0					14																	68934913		2203	4300	6503	68004666	SO:0001583	missense	5890	exon10			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.982G>T	14.37:g.68934913G>T	ENSP00000419471:p.Ala328Ser		68004666	NM_133509	O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899572	0.72754	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389;ENST00000554575	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.64	5.64	0.86602	DNA recombination and repair protein Rad51, C-terminal (1);	0.230617	0.30732	N	0.008991	T	0.51890	0.1701	N	0.20574	0.59	0.34875	D	0.743963	P;P;D;P;B	0.69078	0.509;0.778;0.997;0.663;0.34	P;B;D;B;B	0.80764	0.451;0.375;0.994;0.286;0.171	T	0.63129	-0.6706	10	0.87932	D	0	-12.2501	18.2441	0.89979	0.0:0.0:1.0:0.0	.	328;328;328;328;328	C9JYJ0;O15315-4;O15315;O15315-1;O15315-2	.;.;RA51B_HUMAN;.;.	S	328;328;328;328;328;328;328;15	ENSP00000419881:A328S;ENSP00000418859:A328S;ENSP00000419471:A328S;ENSP00000420061:A328S;ENSP00000375101:A328S	ENSP00000343531:A328S	A	+	1	0	RAD51B	68004666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.967000	0.70403	2.817000	0.96982	0.557000	0.71058	GCT		0.458	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1		
MKRN3	7681	broad.mit.edu	37	15	23811258	23811258	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr15:23811258A>T	ENST00000314520.3	+	1	805	c.329A>T	c.(328-330)aAg>aTg	p.K110M	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	110					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGCAGTGCAAGGAGGGGGAG	0.602																																					p.K110M												.	.	0			c.A329T	15						.						61.0	62.0	61.0					15																	23811258		2203	4300	6503	21362351	SO:0001583	missense	7681	exon1			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.329A>T	15.37:g.23811258A>T	ENSP00000313881:p.Lys110Met		21362351	NM_005664		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084316	0.76642	.	.	ENSG00000179455	ENST00000314520	T	0.43294	0.95	3.83	3.83	0.44106	Zinc finger, CCCH-type (2);	0.111150	0.64402	D	0.000015	T	0.54271	0.1848	L	0.49571	1.57	0.51233	D	0.999917	D	0.89917	1.0	D	0.81914	0.995	T	0.56661	-0.7942	10	0.87932	D	0	.	9.3018	0.37851	1.0:0.0:0.0:0.0	.	110	Q13064	MKRN3_HUMAN	M	110	ENSP00000313881:K110M	ENSP00000313881:K110M	K	+	2	0	MKRN3	21362351	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.273000	0.51623	1.966000	0.57179	0.460000	0.39030	AAG		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
TMC3	342125	broad.mit.edu	37	15	81666383	81666383	+	Silent	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr15:81666383G>A	ENST00000359440.5	-	1	171	c.36C>T	c.(34-36)ggC>ggT	p.G12G	TMC3_ENST00000558726.1_Silent_p.G12G	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.G12G(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTCTCCGGATGCCTCTATAGC	0.552																																					p.G12G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	15						.						76.0	78.0	77.0					15																	81666383		2094	4235	6329	79453438	SO:0001819	synonymous_variant	342125	exon1			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.36C>T	15.37:g.81666383G>A			79453438	NM_001080532		Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																				0.552	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
IGF1R	3480	broad.mit.edu	37	15	99434668	99434668	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr15:99434668G>A	ENST00000268035.6	+	3	1366	c.755G>A	c.(754-756)cGc>cAc	p.R252H	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.R252H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	252					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.R252H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTAGCTTGCCGCCACTACTAC	0.637																																					p.R252H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	15						.						72.0	55.0	61.0					15																	99434668		2197	4297	6494	97252191	SO:0001583	missense	3480	exon3			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.755G>A	15.37:g.99434668G>A	ENSP00000268035:p.Arg252His		97252191	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755619	0.49362	.	.	ENSG00000140443	ENST00000268035	D	0.85861	-2.04	5.29	3.36	0.38483	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.107652	0.36519	N	0.002558	T	0.81842	0.4908	M	0.74258	2.255	0.43628	D	0.996017	B;P	0.35011	0.112;0.48	B;B	0.31547	0.004;0.132	T	0.79281	-0.1868	10	0.62326	D	0.03	.	8.2743	0.31864	0.071:0.0:0.647:0.282	.	252;252	C9J5X1;P08069	.;IGF1R_HUMAN	H	252	ENSP00000268035:R252H	ENSP00000268035:R252H	R	+	2	0	IGF1R	97252191	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	2.067000	0.41461	0.686000	0.31488	-0.268000	0.10319	CGC		0.637	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
EDC4	23644	broad.mit.edu	37	16	67911281	67911282	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr16:67911281_67911282insCA	ENST00000358933.5	+	5	852_853	c.613_614insCA	c.(613-615)cgcfs	p.R205fs	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	205					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R205fs*26(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTTCGTGTGGCGCTTGGCTCTG	0.579																																					p.R205fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.613_614insCA	16						.																																			66468783	SO:0001589	frameshift_variant	23644	exon5			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	Exception_encountered	16.37:g.67911281_67911282insCA	ENSP00000351811:p.Arg205fs		66468782	NM_014329	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Frame_Shift_Ins	INS	ENST00000358933.5	37	CCDS10849.1																																																																																				0.579	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
OR2C1	4993	broad.mit.edu	37	16	3406250	3406250	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr16:3406250T>A	ENST00000304936.2	+	1	362	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F104I(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTCTATGTCTTCCTTTGGCT	0.562																																					p.F104I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T310A	16						.						60.0	48.0	52.0					16																	3406250		2197	4300	6497	3346251	SO:0001583	missense	4993	exon1			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.310T>A	16.37:g.3406250T>A	ENSP00000307726:p.Phe104Ile		3346251	NM_012368	A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	t	12.68	2.011186	0.35511	.	.	ENSG00000168158	ENST00000304936	T	0.00299	8.22	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000696	T	0.00580	0.0019	M	0.80616	2.505	0.27779	N	0.943216	D	0.61080	0.989	P	0.61070	0.883	T	0.41716	-0.9493	10	0.54805	T	0.06	.	12.0482	0.53491	0.0:0.0:0.0:1.0	.	104	O95371	OR2C1_HUMAN	I	104	ENSP00000307726:F104I	ENSP00000307726:F104I	F	+	1	0	OR2C1	3346251	0.086000	0.21541	0.993000	0.49108	0.218000	0.24690	1.781000	0.38644	1.947000	0.56498	0.416000	0.27883	TTC		0.562	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3		
ITGAL	3683	broad.mit.edu	37	16	30484201	30484201	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr16:30484201T>C	ENST00000356798.6	+	1	223	c.43T>C	c.(43-45)Tct>Cct	p.S15P	ITGAL_ENST00000358164.5_Missense_Mutation_p.S15P|Y_RNA_ENST00000410769.1_RNA|ITGAL_ENST00000454514.2_Missense_Mutation_p.S15P|ITGAL_ENST00000433423.2_Missense_Mutation_p.S15P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	15					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.S15P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGCGCTGCTGTCTGGGTTCTT	0.587																																					p.S15P	NSCLC(110;1462 1641 3311 33990 49495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T43C	16						.						135.0	109.0	118.0					16																	30484201		2197	4300	6497	30391702	SO:0001583	missense	3683	exon1				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.43T>C	16.37:g.30484201T>C	ENSP00000349252:p.Ser15Pro		30391702	NM_001114380	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.244539	0.22796	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514;ENST00000433423	D;T;D;T	0.92299	-3.01;0.7;-3.01;1.77	4.76	-1.79	0.07932	.	1.250290	0.05772	N	0.606852	D	0.88058	0.6335	L	0.56769	1.78	0.18873	N	0.999983	B;B;B	0.12630	0.005;0.002;0.006	B;B;B	0.12156	0.007;0.003;0.003	T	0.71663	-0.4525	10	0.35671	T	0.21	.	4.4458	0.11597	0.0:0.2756:0.3234:0.401	.	15;15;15	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	P	15	ENSP00000349252:S15P;ENSP00000350886:S15P;ENSP00000408615:S15P;ENSP00000409377:S15P	ENSP00000349252:S15P	S	+	1	0	ITGAL	30391702	0.072000	0.21174	0.676000	0.29932	0.009000	0.06853	0.352000	0.20113	-0.195000	0.10382	-0.460000	0.05396	TCT		0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
CHD9	80205	broad.mit.edu	37	16	53283786	53283786	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr16:53283786C>T	ENST00000398510.3	+	16	3756	c.3669C>T	c.(3667-3669)taC>taT	p.Y1223Y	Y_RNA_ENST00000391280.1_RNA|CHD9_ENST00000447540.1_Silent_p.Y1223Y|CHD9_ENST00000564845.1_Silent_p.Y1223Y|CHD9_ENST00000566029.1_Silent_p.Y1223Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1223	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Y1223Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCATAGATACTTATATGAGC	0.313																																					p.Y1223Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3669T	16						.						80.0	78.0	78.0					16																	53283786		1834	4092	5926	51841287	SO:0001819	synonymous_variant	80205	exon17			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3669C>T	16.37:g.53283786C>T			51841287	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.313	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
NUDT7	283927	broad.mit.edu	37	16	77775616	77775616	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr16:77775616C>T	ENST00000268533.5	+	4	555	c.486C>T	c.(484-486)taC>taT	p.Y162Y	NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Silent_p.Y109Y	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	162	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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.Y162Y(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ACCAGCATTACGTCACACGTC	0.483																																					p.Y162Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	16						.						117.0	109.0	112.0					16																	77775616		1967	4157	6124	76333117	SO:0001819	synonymous_variant	283927	exon4			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.486C>T	16.37:g.77775616C>T			76333117	NM_001105663	B4DLE5|H3BUB8	Silent	SNP	ENST00000268533.5	37	CCDS42195.1																																																																																				0.483	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		
PITPNA	5306	broad.mit.edu	37	17	1444889	1444889	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:1444889G>A	ENST00000313486.7	-	6	598	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	PITPNA_ENST00000539476.1_Missense_Mutation_p.H115Y	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	115					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)	p.H115Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TCTGGTTTGTGCCAGGTTTCA	0.443																																					p.H115Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343T	17						.						105.0	103.0	103.0					17																	1444889		1861	4105	5966	1391639	SO:0001583	missense	5306	exon6			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.343C>T	17.37:g.1444889G>A	ENSP00000316809:p.His115Tyr		1391639	NM_006224		Missense_Mutation	SNP	ENST00000313486.7	37	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090688	0.94149	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	T;T	0.38240	1.15;1.15	6.16	6.16	0.99307	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31861	-0.9928	10	0.13853	T	0.58	.	19.4236	0.94732	0.0:0.0:1.0:0.0	.	115	Q00169	PIPNA_HUMAN	Y	115;115;42	ENSP00000441869:H115Y;ENSP00000316809:H115Y	ENSP00000316809:H115Y	H	-	1	0	PITPNA	1391639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.679000	0.98649	2.937000	0.99478	0.650000	0.86243	CAC		0.443	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3		
DNAH9	1770	broad.mit.edu	37	17	11786998	11786998	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:11786998C>T	ENST00000262442.4	+	56	10970	c.10902C>T	c.(10900-10902)ttC>ttT	p.F3634F	DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.F3634F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3634	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F3634F(1)|p.F3634L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGGAACTTCCTGGGAGAAA	0.498																																					p.F3634F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)	c.C10902T	17						.						95.0	89.0	91.0					17																	11786998		2203	4300	6503	11727723	SO:0001819	synonymous_variant	1770	exon56			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10902C>T	17.37:g.11786998C>T			11727723	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
CCDC144A	9720	broad.mit.edu	37	17	16665023	16665023	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:16665023C>T	ENST00000360524.8	+	13	3733	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	RP11-219A15.1_ENST00000448331.3_Silent_p.L1219L|CCDC144A_ENST00000399273.1_Silent_p.L1219L|CCDC144A_ENST00000456009.1_Silent_p.L985L|CCDC144A_ENST00000443444.2_Silent_p.L1219L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1219								p.L1219L(1)									AAGCCATTCTCACCTTGCAGG	0.328																																					p.L1219L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3657T	17						.						24.0	30.0	28.0					17																	16665023		1735	3940	5675	16605748	SO:0001819	synonymous_variant	9720	exon13			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3657C>T	17.37:g.16665023C>T			16605748	NM_014695	O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.464038	0.01053	.	.	ENSG00000170160	ENST00000328495	.	.	.	2.1	-3.4	0.04853	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.49915	D	0.999831	.	.	.	.	.	.	T	0.30621	-0.9972	4	.	.	.	.	3.8751	0.09053	0.326:0.3843:0.2897:0.0	.	.	.	.	L	749	.	.	S	+	2	0	CCDC144A	16605748	0.000000	0.05858	0.004000	0.12327	0.123000	0.20343	-2.996000	0.00655	-0.994000	0.03463	0.184000	0.17185	TCA		0.328	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
SUPT6H	6830	broad.mit.edu	37	17	27010324	27010324	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:27010324T>G	ENST00000314616.6	+	16	2200	c.1917T>G	c.(1915-1917)taT>taG	p.Y639*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Y639*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	639	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y639*(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCTTCAAGTATTTAAAGAACA	0.502																																					p.Y639X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1917G	17						.						83.0	78.0	80.0					17																	27010324		2203	4300	6503	24034451	SO:0001587	stop_gained	6830	exon16			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1917T>G	17.37:g.27010324T>G	ENSP00000319104:p.Tyr639*		24034451	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	39	7.799718	0.98495	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.73	1.54	0.23209	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5476	9.046	0.36347	0.0:0.6553:0.0:0.3447	.	.	.	.	X	639	.	ENSP00000319104:Y639X	Y	+	3	2	SUPT6H	24034451	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	1.072000	0.30678	0.374000	0.24650	-0.132000	0.14878	TAT		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
NXN	64359	broad.mit.edu	37	17	726977	726977	+	Silent	SNP	G	G	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:726977G>C	ENST00000336868.3	-	3	598	c.507C>G	c.(505-507)ccC>ccG	p.P169P	NXN_ENST00000538650.1_5'Flank|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Silent_p.P61P	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	169	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.P169P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTTCCCTGAAGGGTTTCGGTC	0.547																																					p.P169P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507G	17						.						59.0	58.0	59.0					17																	726977		2203	4300	6503	673727	SO:0001819	synonymous_variant	64359	exon3				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.507C>G	17.37:g.726977G>C			673727	NM_022463	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	37	CCDS10998.1																																																																																				0.547	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	G	rs587781991		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:7578526C>G	ENST00000269305.4	-	5	593	c.404G>C	c.(403-405)tGc>tCc	p.C135S	TP53_ENST00000445888.2_Missense_Mutation_p.C135S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C135S|TP53_ENST00000413465.2_Missense_Mutation_p.C135S|TP53_ENST00000455263.2_Missense_Mutation_p.C135S|TP53_ENST00000359597.4_Missense_Mutation_p.C135S	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)	GGCCAGTTGGCAAAACATCTT	0.572		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)																											p.C135S	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,0 	.	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	c.G404C	17						.						50.0	50.0	50.0					17																	7578526		2203	4300	6503	7519251	SO:0001583	missense	7157	exon5	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.404G>C	17.37:g.7578526C>G	ENSP00000269305:p.Cys135Ser		7519251	NM_001126114	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	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798826	0.90538	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.79011	2.435	0.80722	D	1	D;D;B;D;D;D;D	0.89917	0.998;1.0;0.098;1.0;1.0;1.0;1.0	D;D;B;D;D;D;D	0.97110	0.966;1.0;0.131;0.999;1.0;1.0;0.999	D	0.97483	1.0048	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135S;ENSP00000352610:C135S;ENSP00000269305:C135S;ENSP00000398846:C135S;ENSP00000391127:C135S;ENSP00000391478:C135S;ENSP00000425104:C3S;ENSP00000423862:C42S;ENSP00000424104:C135S	ENSP00000269305:C135S	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
EZH1	2145	broad.mit.edu	37	17	40870032	40870032	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr17:40870032C>T	ENST00000428826.2	-	10	1106	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	EZH1_ENST00000590078.1_Missense_Mutation_p.E259K|EZH1_ENST00000415827.2_Missense_Mutation_p.E320K|EZH1_ENST00000435174.1_Missense_Mutation_p.E190K|EZH1_ENST00000585893.1_Missense_Mutation_p.E289K|EZH1_ENST00000592743.1_Missense_Mutation_p.E329K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	329					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)	p.E329K(1)		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)		GGTTCTGGTTCAATCTTGATT	0.418																																					p.E329K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	17						.						155.0	142.0	146.0					17																	40870032		2203	4300	6503	38123558	SO:0001583	missense	2145	exon10				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.985G>A	17.37:g.40870032C>T	ENSP00000404658:p.Glu329Lys		38123558	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312223	0.81358	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.79141	-1.24;-1.24	4.64	4.64	0.57946	.	0.094927	0.64402	D	0.000001	T	0.77624	0.4158	L	0.53249	1.67	0.58432	D	0.999998	P;P;P;P	0.44521	0.837;0.758;0.758;0.645	P;B;P;B	0.48270	0.535;0.433;0.572;0.368	T	0.72947	-0.4137	10	0.09843	T	0.71	.	17.6372	0.88125	0.0:1.0:0.0:0.0	.	190;289;335;329	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	K	332;329;289;190	ENSP00000404658:E329K;ENSP00000404071:E190K	ENSP00000264646:E332K	E	-	1	0	EZH1	38123558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.780000	0.68956	2.585000	0.87301	0.655000	0.94253	GAA		0.418	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
LPIN2	9663	broad.mit.edu	37	18	2924395	2924396	+	Splice_Site	INS	-	-	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr18:2924395_2924396insT	ENST00000261596.4	-	15	2325_2326		c.e15+1		RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.S697fs*29(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATTGAGCTTACTTGGTTATTGT	0.54																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.																																			2914396	SO:0001630	splice_region_variant	9663	.			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2087+1->A	18.37:g.2924397_2924397dupT			2914395	.	A7MD25|D3DUH3	Splice_Site	INS	ENST00000261596.4	37	CCDS11829.1																																																																																				0.540	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	Intron
C18orf8	29919	broad.mit.edu	37	18	21098896	21098896	+	Silent	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr18:21098896G>A	ENST00000269221.3	+	8	806	c.696G>A	c.(694-696)cgG>cgA	p.R232R	C18orf8_ENST00000590868.1_Silent_p.R184R	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	232						lysosomal membrane (GO:0005765)		p.R232R(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCATTCTCGGACCTCCAACA	0.433																																					p.R232R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G696A	18						.						168.0	157.0	161.0					18																	21098896		2203	4300	6503	19352894	SO:0001819	synonymous_variant	29919	exon8			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.696G>A	18.37:g.21098896G>A			19352894	NM_013326	Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	CCDS32803.1																																																																																				0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
ZNF568	374900	broad.mit.edu	37	19	37488122	37488123	+	Frame_Shift_Ins	INS	-	-	AAGTGTAG			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr19:37488122_37488123insAAGTGTAG	ENST00000455427.2	+	9	1666_1667	c.1337_1338insAAGTGTAG	c.(1336-1341)aaggaafs	p.E447fs		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATGAATGTAAGGAATGTGGGA	0.446																																					.												.	.	0			.	19						.																																			42179963	SO:0001589	frameshift_variant	374900	.			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	Exception_encountered	19.37:g.37488122_37488123insAAGTGTAG	ENSP00000413396:p.Glu447fs		42179962	.	B4DS92|E7ER33|Q6N060|Q8NA64	Frame_Shift_Ins	INS	ENST00000455427.2	37	CCDS56093.1																																																																																				0.446	ZNF568-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457465.1	NM_198539	
ZNF433	163059	broad.mit.edu	37	19	12129073	12129073	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr19:12129073A>G	ENST00000344980.6	-	2	217	c.47T>C	c.(46-48)tTc>tCc	p.F16S	CTD-2006C1.10_ENST00000547473.1_3'UTR|ZNF433_ENST00000419886.2_5'UTR|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.F16S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CTCTTGGGTGAAGGTCACAGC	0.468																																					p.F16S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T47C	19						.						71.0	73.0	72.0					19																	12129073		2203	4300	6503	11990073	SO:0001583	missense	163059	exon2			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.47T>C	19.37:g.12129073A>G	ENSP00000339767:p.Phe16Ser		11990073	NM_001080411	Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.888818	0.72524	.	.	ENSG00000197647	ENST00000344980;ENST00000550507;ENST00000455504;ENST00000478765;ENST00000550745;ENST00000411841	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	1.03	1.03	0.20045	Krueppel-associated box (4);	.	.	.	.	T	0.50377	0.1612	H	0.99261	4.49	0.27287	N	0.957952	D	0.69078	0.997	D	0.79108	0.992	T	0.41270	-0.9518	9	0.87932	D	0	.	6.2434	0.20803	1.0:0.0:0.0:0.0	.	16	Q8N7K0	ZN433_HUMAN	S	16;13;27;27;15;55	ENSP00000339767:F16S;ENSP00000448099:F13S;ENSP00000414857:F27S;ENSP00000447951:F27S;ENSP00000447205:F15S;ENSP00000407475:F55S	ENSP00000339767:F16S	F	-	2	0	ZNF433	11990073	0.221000	0.23642	0.356000	0.25785	0.867000	0.49689	1.834000	0.39171	0.709000	0.31976	0.254000	0.18369	TTC		0.468	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602	
ZNF607	84775	broad.mit.edu	37	19	38189348	38189348	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr19:38189348C>T	ENST00000355202.4	-	5	2279	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.E561K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E562K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCTTACATTCGTAGGGTTTC	0.418																																					p.E562K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1684A	19						.						42.0	40.0	41.0					19																	38189348		2203	4300	6503	42881188	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1684G>A	19.37:g.38189348C>T	ENSP00000347338:p.Glu562Lys		42881188	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216192	0.58452	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.35605	1.3;1.3	1.96	0.862	0.19056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10809	0.0264	N	0.00392	-1.555	0.09310	N	1	P;D	0.54772	0.469;0.968	B;P	0.48524	0.051;0.58	T	0.03443	-1.1036	9	0.13108	T	0.6	.	3.5458	0.07828	0.2431:0.6027:0.0:0.1541	.	562;561	Q96SK3;F5H141	ZN607_HUMAN;.	K	562;561	ENSP00000347338:E562K;ENSP00000438015:E561K	ENSP00000347338:E562K	E	-	1	0	ZNF607	42881188	0.000000	0.05858	0.644000	0.29465	0.822000	0.46500	-3.279000	0.00529	0.154000	0.19237	0.462000	0.41574	GAA		0.418	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
RYR1	6261	broad.mit.edu	37	19	38968402	38968402	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr19:38968402C>T	ENST00000359596.3	+	30	4346	c.4346C>T	c.(4345-4347)gCg>gTg	p.A1449V	RYR1_ENST00000360985.3_Missense_Mutation_p.A1449V|RYR1_ENST00000355481.4_Missense_Mutation_p.A1449V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1449	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A1449V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCGTGTGGGCGGGCTGGGTC	0.592																																					p.A1449V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4346T	19						.						69.0	55.0	60.0					19																	38968402		2203	4300	6503	43660242	SO:0001583	missense	6261	exon30			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4346C>T	19.37:g.38968402C>T	ENSP00000352608:p.Ala1449Val		43660242	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292510	0.23564	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.48836	0.8;0.8;0.8	5.41	3.31	0.37934	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.196700	0.31709	N	0.007189	T	0.08223	0.0205	N	0.00024	-2.69	0.26383	N	0.976709	B;B	0.23442	0.023;0.085	B;B	0.22152	0.001;0.038	T	0.41787	-0.9489	10	0.02654	T	1	.	9.5797	0.39479	0.0:0.146:0.0:0.854	.	1449;1449	P21817-2;P21817	.;RYR1_HUMAN	V	1449	ENSP00000352608:A1449V;ENSP00000347667:A1449V;ENSP00000354254:A1449V	ENSP00000347667:A1449V	A	+	2	0	RYR1	43660242	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	5.033000	0.64146	0.357000	0.24183	-0.959000	0.02639	GCG		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
ZNF71	58491	broad.mit.edu	37	19	57133180	57133180	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr19:57133180C>G	ENST00000328070.6	+	3	759	c.525C>G	c.(523-525)atC>atG	p.I175M		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I175M(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCCTCACCATCCACCAGCGGG	0.612																																					p.I175M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C525G	19						.						46.0	47.0	47.0					19																	57133180		2203	4300	6503	61824992	SO:0001583	missense	58491	exon3			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.525C>G	19.37:g.57133180C>G	ENSP00000328245:p.Ile175Met		61824992	NM_021216	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192844	0.38707	.	.	ENSG00000197951	ENST00000328070	T	0.18016	2.24	3.18	-2.66	0.06077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	N	0.16037	0.36	0.09310	N	0.999998	B	0.25850	0.136	B	0.24394	0.053	T	0.33574	-0.9863	9	0.46703	T	0.11	.	2.7462	0.05268	0.1339:0.4967:0.1486:0.2208	.	175	Q9NQZ8	ZNF71_HUMAN	M	175	ENSP00000328245:I175M	ENSP00000328245:I175M	I	+	3	3	ZNF71	61824992	0.000000	0.05858	0.912000	0.35992	0.977000	0.68977	-3.045000	0.00631	-0.230000	0.09840	-0.254000	0.11334	ATC		0.612	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
ZNF835	90485	broad.mit.edu	37	19	57175144	57175144	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr19:57175144C>T	ENST00000537055.2	-	2	1654	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E497K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCGCTGCACTCGTAGGGCTTC	0.662																																					p.E497K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1489A	19						.						114.0	125.0	122.0					19																	57175144		2203	4300	6503	61866956	SO:0001583	missense	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1423G>A	19.37:g.57175144C>T	ENSP00000444747:p.Glu475Lys		61866956	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283405	0.23392	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.19250	2.16	2.07	-0.238	0.13055	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.02296	-0.605	0.09310	N	1	P	0.37101	0.582	B	0.32211	0.142	T	0.25152	-1.0140	9	0.12430	T	0.62	.	2.7258	0.05213	0.0:0.4228:0.256:0.3212	.	497	Q9Y2P0	ZN835_HUMAN	K	497;475	ENSP00000444747:E475K	ENSP00000341756:E497K	E	-	1	0	ZNF835	61866956	0.000000	0.05858	0.004000	0.12327	0.699000	0.40488	-5.121000	0.00149	0.009000	0.14813	0.561000	0.74099	GAG		0.662	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
ARHGEF11	9826	broad.mit.edu	37	1	156931500	156931500	+	Missense_Mutation	SNP	T	T	A	rs369602809		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:156931500T>A	ENST00000361409.2	-	13	1830	c.1088A>T	c.(1087-1089)gAc>gTc	p.D363V	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D403V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	363	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D403V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCCAGATGTCTTTCCCCAA	0.423																																					p.D403V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1208T	1						.						86.0	92.0	90.0					1																	156931500		2203	4300	6503	155198124	SO:0001583	missense	9826	exon14			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1088A>T	1.37:g.156931500T>A	ENSP00000354644:p.Asp363Val		155198124	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044925	0.55110	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.84873	-1.91;-1.91	5.2	4.06	0.47325	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.228496	0.30455	N	0.009587	T	0.74199	0.3685	L	0.47190	1.495	0.80722	D	1	P;B	0.43024	0.798;0.441	B;B	0.39419	0.299;0.198	T	0.80686	-0.1272	10	0.87932	D	0	-26.915	13.0065	0.58707	0.0:0.0:0.1429:0.8571	.	363;403	O15085;O15085-2	ARHGB_HUMAN;.	V	403;363	ENSP00000357177:D403V;ENSP00000354644:D363V	ENSP00000354644:D363V	D	-	2	0	ARHGEF11	155198124	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.431000	0.52814	2.190000	0.69967	0.533000	0.62120	GAC		0.423	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
DCAF8	50717	broad.mit.edu	37	1	160210013	160210013	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:160210013C>G	ENST00000368073.3	-	4	631	c.197G>C	c.(196-198)gGc>gCc	p.G66A	DCAF8_ENST00000556710.1_Missense_Mutation_p.G220A|DCAF8_ENST00000475733.1_Missense_Mutation_p.G66A|DCAF8_ENST00000610139.1_Missense_Mutation_p.G66A|DCAF8_ENST00000368074.1_Missense_Mutation_p.G66A|DCAF8_ENST00000326837.2_Missense_Mutation_p.G66A|DCAF8_ENST00000608310.1_Missense_Mutation_p.G220A			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	66					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G66A(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGTCTGTGCCTCGACTTTC	0.522																																					p.G66A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197C	1						.						123.0	86.0	98.0					1																	160210013		2203	4300	6503	158476637	SO:0001583	missense	50717	exon4			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.197G>C	1.37:g.160210013C>G	ENSP00000357052:p.Gly66Ala		158476637	NM_015726	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316859	0.40996	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.06;-0.06	4.5	3.59	0.41128	.	0.275715	0.25194	U	0.032439	T	0.20820	0.0501	L	0.27053	0.805	0.30261	N	0.79317	B;B;B	0.30236	0.116;0.274;0.022	B;B;B	0.30179	0.071;0.112;0.016	T	0.11036	-1.0604	10	0.09590	T	0.72	-1.6667	6.7987	0.23738	0.0:0.7955:0.0:0.2045	.	220;66;66	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	A	66;66;66;220;66;66;66;220;278	ENSP00000357052:G66A;ENSP00000318227:G66A;ENSP00000357053:G66A;ENSP00000451989:G220A;ENSP00000451235:G220A	ENSP00000318227:G66A	G	-	2	0	RP11-574F21.3;DCAF8	158476637	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.895000	0.39778	1.110000	0.41699	0.650000	0.86243	GGC		0.522	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726	
NOS1AP	9722	broad.mit.edu	37	1	162336849	162336849	+	Silent	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:162336849C>A	ENST00000361897.5	+	10	1515	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S	NOS1AP_ENST00000530878.1_Silent_p.S366S|RP11-565P22.6_ENST00000431696.1_Silent_p.S57S|NOS1AP_ENST00000493151.1_Silent_p.S76S|NOS1AP_ENST00000454693.1_3'UTR	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	371					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.S371S(2)|p.S76S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGTGGGCTCCCAGGACAGCT	0.652																																					p.S76S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C228A	1						.						93.0	105.0	101.0					1																	162336849		2203	4300	6503	160603473	SO:0001819	synonymous_variant	9722	exon2			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1113C>A	1.37:g.162336849C>A			160603473	NM_001126060	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	CCDS1237.1																																																																																				0.652	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
FASLG	356	broad.mit.edu	37	1	172628392	172628392	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:172628392C>T	ENST00000367721.2	+	1	235	c.51C>T	c.(49-51)agC>agT	p.S17S	FASLG_ENST00000340030.3_Silent_p.S17S	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	17	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.S17S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGTGGACAGCAGTGCCAGCT	0.597																																					p.S17S	Ovarian(28;486 876 30334 44033)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	1						.						53.0	55.0	55.0					1																	172628392		2203	4300	6503	170895015	SO:0001819	synonymous_variant	356	exon1			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.51C>T	1.37:g.172628392C>T			170895015	NM_000639	Q9BZP9	Silent	SNP	ENST00000367721.2	37	CCDS1304.1																																																																																				0.597	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1		
TDRD5	163589	broad.mit.edu	37	1	179638503	179638503	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:179638503G>T	ENST00000367614.1	+	16	3021	c.2662G>T	c.(2662-2664)Gca>Tca	p.A888S	TDRD5_ENST00000294848.8_Missense_Mutation_p.A888S|TDRD5_ENST00000444136.1_Missense_Mutation_p.A942S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	888					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.A888S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCAACAACTGCAGTGGATGA	0.488																																					p.A942S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2824T	1						.						148.0	131.0	137.0					1																	179638503		2203	4300	6503	177905126	SO:0001583	missense	163589	exon17			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2662G>T	1.37:g.179638503G>T	ENSP00000356586:p.Ala888Ser		177905126	NM_001199085	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473758	0.26423	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.37411	2.42;2.42;2.56;1.2	5.23	-3.56	0.04626	.	2.952930	0.01003	N	0.003715	T	0.29158	0.0725	L	0.46157	1.445	0.09310	N	1	B;B	0.22683	0.073;0.044	B;B	0.21151	0.033;0.014	T	0.09840	-1.0656	10	0.23302	T	0.38	-3.5267	6.0164	0.19605	0.5458:0.0:0.3238:0.1303	.	942;888	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	888;888;942;398	ENSP00000356586:A888S;ENSP00000294848:A888S;ENSP00000406052:A942S;ENSP00000410744:A398S	ENSP00000294848:A888S	A	+	1	0	TDRD5	177905126	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.457000	0.02374	-0.626000	0.05596	-0.142000	0.14014	GCA		0.488	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
HMCN1	83872	broad.mit.edu	37	1	186008003	186008003	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:186008003C>T	ENST00000271588.4	+	38	6123	c.5894C>T	c.(5893-5895)aCc>aTc	p.T1965I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1965I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1965	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGGTTCCACCAGCATGACT	0.368																																					p.T1965I												.	.	0			c.C5894T	1						.						118.0	115.0	116.0					1																	186008003		2203	4300	6503	184274626	SO:0001583	missense	83872	exon38			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5894C>T	1.37:g.186008003C>T	ENSP00000271588:p.Thr1965Ile		184274626	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	8.060	0.767946	0.15983	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77620	-1.11;-1.11	5.82	3.92	0.45320	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.536026	0.21158	N	0.079208	T	0.74268	0.3694	L	0.48218	1.51	0.09310	N	1	P	0.36837	0.571	B	0.39068	0.289	T	0.64516	-0.6389	10	0.42905	T	0.14	.	15.9899	0.80197	0.0:0.5942:0.4058:0.0	.	1965	Q96RW7	HMCN1_HUMAN	I	1965	ENSP00000271588:T1965I;ENSP00000356462:T1965I	ENSP00000271588:T1965I	T	+	2	0	HMCN1	184274626	0.195000	0.23338	0.001000	0.08648	0.187000	0.23431	1.572000	0.36461	0.782000	0.33613	-0.176000	0.13171	ACC		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
ELF3	1999	broad.mit.edu	37	1	201984431	201984431	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:201984431G>C	ENST00000359651.3	+	8	4288	c.1096G>C	c.(1096-1098)Gtt>Ctt	p.V366L	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.V366L|ELF3_ENST00000367283.3_Missense_Mutation_p.V366L					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGAGGAAGAGGTTCTCCAGAG	0.567																																					p.V366L												.	.	0			c.G1096C	1						.						68.0	68.0	68.0					1																	201984431		2203	4300	6503	200251054	SO:0001583	missense	1999	exon9			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1096G>C	1.37:g.201984431G>C	ENSP00000352673:p.Val366Leu		200251054	NM_001114309		Missense_Mutation	SNP	ENST00000359651.3	37	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778146	0.70107	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.19105	2.17;2.17;2.17	4.61	2.69	0.31865	.	0.850943	0.09075	U	0.852327	T	0.12561	0.0305	N	0.14661	0.345	0.28178	N	0.928296	B	0.10296	0.003	B	0.14023	0.01	T	0.30268	-0.9984	10	0.34782	T	0.22	.	7.0948	0.25303	0.0948:0.1748:0.7304:0.0	.	366	P78545	ELF3_HUMAN	L	366;366;366;343	ENSP00000352673:V366L;ENSP00000356253:V366L;ENSP00000356252:V366L	ENSP00000311348:V343L	V	+	1	0	ELF3	200251054	1.000000	0.71417	0.682000	0.30024	0.855000	0.48748	2.214000	0.42853	0.555000	0.29079	0.555000	0.69702	GTT		0.567	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433	
TMEM183A	92703	broad.mit.edu	37	1	202985237	202985237	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:202985237A>G	ENST00000367242.3	+	5	757	c.677A>G	c.(676-678)gAa>gGa	p.E226G	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	226						integral component of membrane (GO:0016021)		p.E226G(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			GCCATTCCAGAAAGCACCCCC	0.458																																					p.E226G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A677G	1						.						91.0	93.0	92.0					1																	202985237		2203	4300	6503	201251860	SO:0001583	missense	92703	exon5			BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.677A>G	1.37:g.202985237A>G	ENSP00000356211:p.Glu226Gly		201251860	NM_001079809	A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.818096	0.90790	.	.	ENSG00000163444	ENST00000367242	T	0.25912	1.77	5.4	5.4	0.78164	.	0.044685	0.85682	D	0.000000	T	0.42630	0.1211	L	0.60455	1.87	0.80722	D	1	D;D;P;D	0.63046	0.959;0.992;0.787;0.959	P;P;B;P	0.57101	0.564;0.813;0.372;0.564	T	0.36986	-0.9725	10	0.87932	D	0	-13.8499	15.3888	0.74726	1.0:0.0:0.0:0.0	.	226;226;226;226	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	G	226	ENSP00000356211:E226G	ENSP00000356211:E226G	E	+	2	0	TMEM183A	201251860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.164000	0.68074	0.533000	0.62120	GAA		0.458	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391	
SYT14	255928	broad.mit.edu	37	1	210273758	210273758	+	Silent	SNP	A	A	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:210273758A>G	ENST00000472886.1	+	6	1130	c.1116A>G	c.(1114-1116)caA>caG	p.Q372Q	SYT14_ENST00000367015.1_Silent_p.Q334Q|SYT14_ENST00000534859.1_Silent_p.Q372Q|SYT14_ENST00000399639.2_Silent_p.Q372Q|SYT14_ENST00000537238.1_Silent_p.Q334Q|SYT14_ENST00000367019.1_Silent_p.Q372Q|SYT14_ENST00000422431.1_Silent_p.Q417Q|SYT14_ENST00000271745.7_Intron			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	372	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.Q372Q(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGAATCTTCAAGGGAAAATGT	0.333																																					p.Q372Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1116G	1						.						41.0	44.0	43.0					1																	210273758		2200	4288	6488	208340381	SO:0001819	synonymous_variant	255928	exon6			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1116A>G	1.37:g.210273758A>G			208340381	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	CCDS31014.1																																																																																				0.333	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
IARS2	55699	broad.mit.edu	37	1	220275545	220275545	+	Missense_Mutation	SNP	A	A	G	rs368937943		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:220275545A>G	ENST00000302637.5	+	4	729	c.625A>G	c.(625-627)Aat>Gat	p.N209D	IARS2_ENST00000366922.1_Missense_Mutation_p.N137D	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	209					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.N209D(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGCAGATTGGAATAATTGCTA	0.318																																					p.N209D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A625G	1						.	A	ASP/ASN	0,4404		0,0,2202	82.0	81.0	81.0		625	-1.5	1.0	1		81	1,8597	1.2+/-3.3	0,1,4298	no	missense	IARS2	NM_018060.3	23	0,1,6500	GG,GA,AA		0.0116,0.0,0.0077	benign	209/1013	220275545	1,13001	2202	4299	6501	218342168	SO:0001583	missense	55699	exon4			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.625A>G	1.37:g.220275545A>G	ENSP00000303279:p.Asn209Asp		218342168	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	A	6.469	0.454722	0.12283	0.0	1.16E-4	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.30714	1.52;1.52	5.96	-1.55	0.08558	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.324403	0.39834	N	0.001251	T	0.07908	0.0198	N	0.01228	-0.945	0.36894	D	0.890055	B	0.02656	0.0	B	0.08055	0.003	T	0.46428	-0.9192	10	0.02654	T	1	-18.307	11.6909	0.51514	0.3899:0.0:0.6101:0.0	.	209	Q9NSE4	SYIM_HUMAN	D	137;209	ENSP00000355889:N137D;ENSP00000303279:N209D	ENSP00000303279:N209D	N	+	1	0	IARS2	218342168	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	1.362000	0.34148	-0.064000	0.13043	-0.256000	0.11100	AAT		0.318	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
CDC42BPA	8476	broad.mit.edu	37	1	227333401	227333401	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:227333401G>C	ENST00000366769.3	-	8	2223	c.932C>G	c.(931-933)tCt>tGt	p.S311C	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S311C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S311C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S311C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S311C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S311C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S311C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.S311C(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGCATTTTCAGACACATCAGT	0.358																																					p.S311C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C932G	1						.						69.0	69.0	69.0					1																	227333401		2203	4300	6503	225400024	SO:0001583	missense	8476	exon8			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.932C>G	1.37:g.227333401G>C	ENSP00000355731:p.Ser311Cys		225400024	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192096	0.94923	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.93507	3.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.997;0.997	T	0.83285	-0.0036	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	311;311;311;311	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	C	311	ENSP00000355731:S311C;ENSP00000355729:S311C;ENSP00000335341:S311C;ENSP00000355728:S311C;ENSP00000355726:S311C;ENSP00000443275:S311C;ENSP00000355727:S311C	ENSP00000335341:S311C	S	-	2	0	CDC42BPA	225400024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	TCT		0.358	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
ARV1	64801	broad.mit.edu	37	1	231132894	231132894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:231132894C>T	ENST00000310256.2	+	5	758	c.701C>T	c.(700-702)tCc>tTc	p.S234F	ARV1_ENST00000366658.2_Missense_Mutation_p.S194F|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	234					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.S234F(1)		breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CGTAAGCTCTCCTTCTTGGCC	0.413																																					p.S234F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C701T	1						.						223.0	196.0	205.0					1																	231132894		2203	4300	6503	229199517	SO:0001583	missense	64801	exon5			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.701C>T	1.37:g.231132894C>T	ENSP00000312458:p.Ser234Phe		229199517	NM_022786	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	ENST00000310256.2	37	CCDS1589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.64|12.64	2.000109|2.000109	0.35320|0.35320	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000450711;ENST00000435927|ENST00000310256;ENST00000366658	.|T;T	.|0.26957	.|1.7;1.7	4.42|4.42	3.5|3.5	0.40072|0.40072	.|.	.|0.260794	.|0.39407	.|N	.|0.001372	T|T	0.26702|0.26702	0.0653|0.0653	L|L	0.46157|0.46157	1.445|1.445	0.36011|0.36011	D|D	0.83809|0.83809	.|P	.|0.37864	.|0.61	.|B	.|0.40534	.|0.332	T|T	0.39440|0.39440	-0.9614|-0.9614	5|10	.|0.62326	.|D	.|0.03	-12.6908|-12.6908	12.7546|12.7546	0.57328|0.57328	0.0:0.6851:0.3149:0.0|0.0:0.6851:0.3149:0.0	.|.	.|234	.|Q9H2C2	.|ARV1_HUMAN	S|F	231;254|234;194	.|ENSP00000312458:S234F;ENSP00000355618:S194F	.|ENSP00000312458:S234F	P|S	+|+	1|2	0|0	ARV1|ARV1	229199517|229199517	0.998000|0.998000	0.40836|0.40836	0.484000|0.484000	0.27391|0.27391	0.396000|0.396000	0.30629|0.30629	3.542000|3.542000	0.53625|0.53625	1.219000|1.219000	0.43474|0.43474	-0.161000|-0.161000	0.13427|0.13427	CCT|TCC		0.413	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786	
CSMD2	114784	broad.mit.edu	37	1	34046379	34046379	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:34046379C>T	ENST00000373381.4	-	48	7537	c.7361G>A	c.(7360-7362)cGg>cAg	p.R2454Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2456	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2456Q(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGCCCTTCCGATTGTAGGC	0.522																																					p.R2456Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G7367A	1						.						108.0	98.0	102.0					1																	34046379		2203	4300	6503	33818966	SO:0001583	missense	114784	exon49			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7361G>A	1.37:g.34046379C>T	ENSP00000362479:p.Arg2454Gln		33818966	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.912211	0.92178	.	.	ENSG00000121904	ENST00000373381	T	0.35048	1.33	5.9	5.9	0.94986	CUB (5);	0.067847	0.64402	D	0.000011	T	0.44393	0.1291	L	0.58969	1.84	0.80722	D	1	P;P	0.51537	0.946;0.885	P;P	0.51777	0.679;0.506	T	0.13495	-1.0507	10	0.25106	T	0.35	.	12.5547	0.56246	0.0:0.9248:0.0:0.0752	.	2456;2454	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	2454	ENSP00000362479:R2454Q	ENSP00000241312:R2456Q	R	-	2	0	CSMD2	33818966	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.742000	0.55097	2.793000	0.96121	0.563000	0.77884	CGG		0.522	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
ZMYM4	9202	broad.mit.edu	37	1	35853070	35853070	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:35853070delT	ENST00000314607.6	+	13	2208	c.2128delT	c.(2128-2130)ttcfs	p.F710fs	ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.F621fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	710					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F710fs*13(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGTTTCAGTTCTGTGGCAA	0.299																																					p.F710fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2128delT	1						.						54.0	60.0	58.0					1																	35853070		2203	4300	6503	35625657	SO:0001589	frameshift_variant	9202	exon13			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2128delT	1.37:g.35853070delT	ENSP00000322915:p.Phe710fs		35625657	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Del	DEL	ENST00000314607.6	37	CCDS389.1																																																																																				0.299	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
CLSPN	63967	broad.mit.edu	37	1	36212474	36212474	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:36212474G>A	ENST00000318121.3	-	15	2804	c.2747C>T	c.(2746-2748)aCt>aTt	p.T916I	CLSPN_ENST00000373220.3_Missense_Mutation_p.T852I|CLSPN_ENST00000251195.5_Missense_Mutation_p.T916I|CLSPN_ENST00000520551.1_Missense_Mutation_p.T863I	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	916					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.T916I(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAACTTTCCAGTACACAAATC	0.443																																					p.T852I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2555T	1						.						190.0	169.0	176.0					1																	36212474		2203	4300	6503	35985061	SO:0001583	missense	63967	exon14			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2747C>T	1.37:g.36212474G>A	ENSP00000312995:p.Thr916Ile		35985061	NM_001190481	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266417	0.95399	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.25749	1.78;1.79;1.82;1.83	6.17	6.17	0.99709	.	0.112402	0.64402	D	0.000008	T	0.49184	0.1542	L	0.60455	1.87	0.54753	D	0.99998	D;D	0.69078	0.997;0.997	P;D	0.63113	0.891;0.911	T	0.34675	-0.9819	10	0.87932	D	0	-6.8731	20.8794	0.99867	0.0:0.0:1.0:0.0	.	852;916	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	I	916;916;852;863	ENSP00000251195:T916I;ENSP00000312995:T916I;ENSP00000362317:T852I;ENSP00000428848:T863I	ENSP00000251195:T916I	T	-	2	0	CLSPN	35985061	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT		0.443	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
IPO13	9670	broad.mit.edu	37	1	44432441	44432441	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:44432441C>A	ENST00000372343.3	+	17	3172	c.2510C>A	c.(2509-2511)tCc>tAc	p.S837Y	IPO13_ENST00000372339.3_Missense_Mutation_p.S55Y	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	837					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S837Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTCAAGGCCTCCTGTGGCTTC	0.602																																					p.S837Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2510A	1						.						96.0	90.0	92.0					1																	44432441		2203	4300	6503	44205028	SO:0001583	missense	9670	exon17			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2510C>A	1.37:g.44432441C>A	ENSP00000361418:p.Ser837Tyr		44205028	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381125	0.42207	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.46	4.46	0.54185	Armadillo-like helical (1);	0.333430	0.28533	N	0.015009	T	0.49440	0.1557	L	0.29908	0.895	0.50632	D	0.999886	D;P	0.63046	0.992;0.523	P;B	0.52267	0.694;0.332	T	0.43669	-0.9377	9	0.33141	T	0.24	-9.3633	12.5977	0.56478	0.0:0.8322:0.1678:0.0	.	55;837	Q5T4X2;O94829	.;IPO13_HUMAN	Y	837;55	.	ENSP00000361414:S55Y	S	+	2	0	IPO13	44205028	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.548000	0.60718	2.004000	0.58718	0.417000	0.27973	TCC		0.602	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	
C8B	732	broad.mit.edu	37	1	57417782	57417782	+	Missense_Mutation	SNP	G	G	A	rs142822254|rs398122867		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:57417782G>A	ENST00000371237.4	-	5	671	c.605C>T	c.(604-606)cCg>cTg	p.P202L	C8B_ENST00000543257.1_Missense_Mutation_p.P150L|C8B_ENST00000535057.1_Missense_Mutation_p.P140L	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	202	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.P202L(1)|p.P202Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GATGTAATGCGGGGAGCATCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19105	0.001		0.0	False		,,,				2504	0.0				p.P202L												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C605T	1	GRCh37	CD952413	C8B	D	rs142822254	.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	192.0	177.0	182.0		605	4.6	0.9	1	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C8B	NM_000066.2	98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	202/592	57417782	2,13004	2203	4300	6503	57190370	SO:0001583	missense	732	exon5			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.605C>T	1.37:g.57417782G>A	ENSP00000360281:p.Pro202Leu		57190370	NM_000066	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.15	3.315177	0.60524	2.27E-4	1.16E-4	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.27720	1.9;1.65;1.65	5.56	4.63	0.57726	Membrane attack complex component/perforin (MACPF) domain (1);	0.096332	0.64402	D	0.000001	T	0.54935	0.1889	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.65573	0.887;0.936;0.829	T	0.52147	-0.8614	10	0.26408	T	0.33	-10.4561	15.3369	0.74263	0.0706:0.0:0.9294:0.0	.	150;140;202	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	L	202;150;140	ENSP00000360281:P202L;ENSP00000442548:P150L;ENSP00000440113:P140L	ENSP00000360281:P202L	P	-	2	0	C8B	57190370	1.000000	0.71417	0.946000	0.38457	0.009000	0.06853	7.491000	0.81471	2.778000	0.95560	0.591000	0.81541	CCG		0.502	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
ABCA4	24	broad.mit.edu	37	1	94476439	94476439	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:94476439C>T	ENST00000370225.3	-	40	5717	c.5631G>A	c.(5629-5631)aaG>aaA	p.K1877K	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Silent_p.K147K|ABCA4_ENST00000535881.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1877					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.K1877K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAACAGGTTCTTCCCAATCA	0.577																																					p.K1877K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5631A	1						.						198.0	146.0	164.0					1																	94476439		2203	4300	6503	94249027	SO:0001819	synonymous_variant	24	exon40			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5631G>A	1.37:g.94476439C>T			94249027	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.577	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
EXOC8	149371	broad.mit.edu	37	1	231472718	231472718	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr1:231472718C>A	ENST00000360394.2	-	1	860	c.774G>T	c.(772-774)gaG>gaT	p.E258D	EXOC8_ENST00000366645.1_Missense_Mutation_p.E254D|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	258	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E258D(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AAATACGGCTCTCGGGGAACA	0.517																																					p.E258D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	1						.						77.0	77.0	77.0					1																	231472718		2203	4300	6503	229539341	SO:0001583	missense	149371	exon1			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.774G>T	1.37:g.231472718C>A	ENSP00000353564:p.Glu258Asp		229539341	NM_175876	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	4.222	0.039995	0.08148	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77489	-1.1;-1.1	5.69	4.79	0.61399	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.108809	0.64402	D	0.000009	T	0.59032	0.2164	N	0.16066	0.365	0.52501	D	0.999951	B	0.02656	0.0	B	0.04013	0.001	T	0.52495	-0.8568	10	0.15066	T	0.55	-27.2949	10.605	0.45390	0.0:0.8539:0.0:0.1461	.	258	Q8IYI6	EXOC8_HUMAN	D	258;254	ENSP00000353564:E258D;ENSP00000355605:E254D	ENSP00000353564:E258D	E	-	3	2	EXOC8	229539341	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.116000	0.31221	1.408000	0.46895	0.561000	0.74099	GAG		0.517	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876	
CD93	22918	broad.mit.edu	37	20	23066123	23066124	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr20:23066123_23066124insG	ENST00000246006.4	-	1	853_854	c.706_707insC	c.(706-708)catfs	p.H236fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	236					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAGGAAATAATGACTCTGAGTC	0.589																																					p.H236fs												.	.	0			c.707_708insC	20						.																																			23014124	SO:0001589	frameshift_variant	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.707dupC	20.37:g.23066124_23066124dupG	ENSP00000246006:p.His236fs		23014123	NM_012072	O00274	Frame_Shift_Ins	INS	ENST00000246006.4	37	CCDS13149.1																																																																																				0.589	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
SIRPA	140885	broad.mit.edu	37	20	1896052	1896054	+	In_Frame_Del	DEL	CGA	CGA	-	rs139878822|rs202172737	byFrequency	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	CGA	CGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr20:1896052_1896054delCGA	ENST00000358771.4	+	2	539_541	c.387_389delCGA	c.(385-390)cccgat>cct	p.D131del	SIRPA_ENST00000356025.3_In_Frame_Del_p.D131del|SIRPA_ENST00000400068.3_In_Frame_Del_p.D131del	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	131	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D131delD(2)|p.D130A(1)|p.P129P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGGGAGCCCCGATGACGTGGAG	0.527														1950	0.389377	0.264	0.4063	5008	,	,		16040	0.5933		0.2932	False		,,,				2504	0.4356				p.129_130del	GBM(155;1668 1920 5945 42733 48121)											.	.	4	Deletion - In frame(2)|Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)	c.387_389del	20						.		,,	1147,3105		167,813,1146					,,	2.0	0.0		dbSNP_134	106	2654,5494		452,1750,1872	no	coding,coding,coding	SIRPA	NM_080792.2,NM_001040023.1,NM_001040022.1	,,	619,2563,3018	A1A1,A1R,RR		32.5724,26.9755,30.6532	,,	,,		3801,8599				1844054	SO:0001651	inframe_deletion	140885	exon2			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.387_389delCGA	20.37:g.1896052_1896054delCGA	ENSP00000351621:p.Asp131del		1844052	NM_001040023	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	In_Frame_Del	DEL	ENST00000358771.4	37	CCDS13022.1																																																																																				0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	
NRIP1	8204	broad.mit.edu	37	21	16339427	16339428	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr21:16339427_16339428insA	ENST00000400202.1	-	3	1798_1799	c.1086_1087insT	c.(1084-1089)tataagfs	p.K363fs	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.K363fs|NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.K363fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	363	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K363fs*1(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGTGAGTTCTTATAACCTGCAT	0.361																																					p.K363_N364delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1087_1088insT	21						.																																			15261299	SO:0001589	frameshift_variant	8204	exon4			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1087dupT	21.37:g.16339428_16339428dupA	ENSP00000383063:p.Lys363fs		15261298	NM_003489	Q8IWE8	Frame_Shift_Ins	INS	ENST00000400202.1	37	CCDS13568.1																																																																																				0.361	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
RANBP2	5903	broad.mit.edu	37	2	109383756	109383757	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:109383756_109383757insA	ENST00000283195.6	+	20	6887_6888	c.6761_6762insA	c.(6760-6765)agaaaafs	p.RK2254fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2254					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N2256fs*7(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGCCCTGTGAGAAAAAATCTTT	0.391																																					p.R2254fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.6761_6762insA	2						.																																			108750189	SO:0001589	frameshift_variant	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6767dupA	2.37:g.109383762_109383762dupA	ENSP00000283195:p.Arg2254fs		108750188	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Ins	INS	ENST00000283195.6	37	CCDS2079.1																																																																																				0.391	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
TFCP2L1	29842	broad.mit.edu	37	2	122038826	122038826	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:122038826G>C	ENST00000263707.5	-	2	181	c.84C>G	c.(82-84)atC>atG	p.I28M		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	28	Mediate transcriptional repression.				cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCTGCTTGAAGATGGGCAGAG	0.637																																					p.I28M												.	.	0			c.C84G	2						.						75.0	80.0	78.0					2																	122038826		2203	4300	6503	121755296	SO:0001583	missense	29842	exon2			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.84C>G	2.37:g.122038826G>C	ENSP00000263707:p.Ile28Met		121755296	NM_014553	Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827001	0.50739	.	.	ENSG00000115112	ENST00000263707	T	0.19806	2.12	5.2	4.31	0.51392	.	0.054393	0.85682	D	0.000000	T	0.33556	0.0867	M	0.76574	2.34	0.43522	D	0.995796	B;P	0.36974	0.372;0.576	B;P	0.44673	0.34;0.457	T	0.11665	-1.0578	10	0.54805	T	0.06	.	12.7229	0.57152	0.0:0.0:0.6835:0.3165	.	28;28	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	M	28	ENSP00000263707:I28M	ENSP00000263707:I28M	I	-	3	3	TFCP2L1	121755296	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.711000	0.61881	1.149000	0.42402	0.655000	0.94253	ATC		0.637	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553	
BBS5	129880	broad.mit.edu	37	2	170361018	170361018	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:170361018G>C	ENST00000295240.3	+	12	1328	c.952G>C	c.(952-954)Gaa>Caa	p.E318Q	BBS5_ENST00000392663.2_Missense_Mutation_p.E297Q|BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	318					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.E318Q(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGTATTTTCAGAAGAACTGGG	0.408									Bardet-Biedl syndrome																												p.E318Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G952C	2						.						91.0	91.0	91.0					2																	170361018		2203	4300	6503	170069264	SO:0001583	missense	129880	exon12	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.952G>C	2.37:g.170361018G>C	ENSP00000295240:p.Glu318Gln		170069264	NM_152384	D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898511	0.52227	.	.	ENSG00000163093	ENST00000295240;ENST00000392663	T;T	0.79554	-0.86;-1.28	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	L	0.39020	1.185	0.80722	D	1	B;B	0.21071	0.041;0.051	B;B	0.27608	0.048;0.081	T	0.68674	-0.5346	10	0.18276	T	0.48	.	18.9464	0.92623	0.0:0.0:1.0:0.0	.	297;318	Q8N3I7-2;Q8N3I7	.;BBS5_HUMAN	Q	318;297	ENSP00000295240:E318Q;ENSP00000376431:E297Q	ENSP00000295240:E318Q	E	+	1	0	BBS5	170069264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.547000	0.85894	0.655000	0.94253	GAA		0.408	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384	
TTN	7273	broad.mit.edu	37	2	179428619	179428619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:179428619G>A	ENST00000591111.1	-	276	77541	c.77317C>T	c.(77317-77319)Cga>Tga	p.R25773*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R18474*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18349*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R27414*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18541*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R24846*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25773	Fibronectin type-III 87. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18541*(1)|p.R24844*(1)|p.R18349*(1)|p.R18474*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAGAGTCGGCTTGTCTCC	0.438																																					p.A18348A												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C55044T	2						.						95.0	90.0	92.0					2																	179428619		1850	4102	5952	179136865	SO:0001587	stop_gained	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77317C>T	2.37:g.179428619G>A	ENSP00000465570:p.Arg25773*		179136865	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	64	83.585534	0.99995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.97	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7234	0.69326	0.0:0.0:0.4248:0.5752	.	.	.	.	X	24846;18349;18541;18474;18347	.	ENSP00000340554:R18541X	R	-	1	2	TTN	179136865	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.742000	0.38248	0.151000	0.19162	-0.181000	0.13052	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179477522	179477522	+	Silent	SNP	A	A	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:179477522A>T	ENST00000591111.1	-	215	45227	c.45003T>A	c.(45001-45003)ccT>ccA	p.P15001P	TTN_ENST00000359218.5_Silent_p.P7702P|TTN_ENST00000460472.2_Silent_p.P7577P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.P16642P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.P7769P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.P14074P|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15001	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P7577P(1)|p.P7702P(1)|p.P14074P(1)|p.P7769P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAAAGCACAGGGTCACTGG	0.453																																					p.P7577P												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.T22731A	2						.						33.0	31.0	32.0					2																	179477522		1923	4154	6077	179185767	SO:0001819	synonymous_variant	7273	exon93			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45003T>A	2.37:g.179477522A>T			179185767	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179654182	179654182	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:179654182C>G	ENST00000591111.1	-	13	2205	c.1981G>C	c.(1981-1983)Gtt>Ctt	p.V661L	TTN_ENST00000359218.5_Missense_Mutation_p.V615L|TTN_ENST00000460472.2_Missense_Mutation_p.V615L|TTN_ENST00000589042.1_Missense_Mutation_p.V661L|TTN_ENST00000342175.6_Missense_Mutation_p.V615L|TTN_ENST00000360870.5_Missense_Mutation_p.V661L|TTN_ENST00000342992.6_Missense_Mutation_p.V661L			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V615L(3)|p.V661L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTAGCAACTGCTATTGTA	0.378																																					p.V661L												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G1981C	2						.						175.0	162.0	166.0					2																	179654182		2203	4300	6503	179362427	SO:0001583	missense	7273	exon13			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1981G>C	2.37:g.179654182C>G	ENSP00000465570:p.Val661Leu		179362427	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.135346	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	6.05	5.16	0.70880	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49626	0.1568	L	0.57536	1.79	0.22639	N	0.998907	P;P;P;B;P	0.40431	0.64;0.64;0.64;0.409;0.717	B;B;B;B;B	0.37198	0.228;0.228;0.228;0.167;0.243	T	0.53718	-0.8399	9	0.87932	D	0	.	12.3632	0.55215	0.0:0.8691:0.0:0.1309	.	615;615;615;661;661	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	661;615;615;615;615;661;165	ENSP00000343764:V661L;ENSP00000434586:V615L;ENSP00000340554:V615L;ENSP00000352154:V615L;ENSP00000354117:V661L;ENSP00000405517:V165L	ENSP00000340554:V615L	V	-	1	0	TTN	179362427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.071000	0.30666	2.878000	0.98634	0.650000	0.86243	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CTLA4	1493	broad.mit.edu	37	2	204735396	204735396	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:204735396C>A	ENST00000302823.3	+	2	354	c.197C>A	c.(196-198)gCc>gAc	p.A66D	CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.A66D|CTLA4_ENST00000427473.2_Missense_Mutation_p.A29D|CTLA4_ENST00000487393.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	66	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.A66D(1)		large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CCAGGCAAAGCCACTGAGGTC	0.567																																					p.A66D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C197A	2						.						118.0	107.0	111.0					2																	204735396		2203	4300	6503	204443641	SO:0001583	missense	1493	exon2				CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.197C>A	2.37:g.204735396C>A	ENSP00000303939:p.Ala66Asp		204443641	NM_005214	A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492042	0.44352	.	.	ENSG00000163599	ENST00000302823;ENST00000295854;ENST00000427473	T;T;T	0.63744	-0.06;-0.06;-0.06	5.08	4.19	0.49359	Immunoglobulin V-set (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.438576	0.24307	N	0.039679	T	0.61553	0.2356	M	0.63428	1.95	0.22779	N	0.998741	B;P	0.40553	0.357;0.721	B;P	0.44921	0.35;0.464	T	0.53308	-0.8457	10	0.33940	T	0.23	-8.9177	9.2713	0.37673	0.0:0.8324:0.0:0.1676	.	66;66	Q8TDA6;P16410	.;CTLA4_HUMAN	D	66;66;29	ENSP00000303939:A66D;ENSP00000295854:A66D;ENSP00000409707:A29D	ENSP00000295854:A66D	A	+	2	0	CTLA4	204443641	0.100000	0.21855	0.268000	0.24571	0.235000	0.25334	0.636000	0.24644	1.116000	0.41820	0.591000	0.81541	GCC		0.567	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214	
UNC80	285175	broad.mit.edu	37	2	210642248	210642248	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:210642248G>A	ENST00000439458.1	+	4	645	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	UNC80_ENST00000272845.6_Missense_Mutation_p.V189M|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	189					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V189M(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGAGCTCTTCGTGTTTCTGTT	0.502																																					p.V189M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G565A	2						.						105.0	109.0	108.0					2																	210642248		2203	4300	6503	210350493	SO:0001583	missense	285175	exon4			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.565G>A	2.37:g.210642248G>A	ENSP00000391088:p.Val189Met		210350493	NM_182587	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075077	0.94000	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.53423	0.62;0.63	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.71427	-0.4596	10	0.87932	D	0	.	20.3248	0.98698	0.0:0.0:1.0:0.0	.	189;189	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	M	189	ENSP00000391088:V189M;ENSP00000272845:V189M	ENSP00000272845:V189M	V	+	1	0	UNC80	210350493	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.609000	0.98334	2.818000	0.97014	0.655000	0.94253	GTG		0.502	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
TNS1	7145	broad.mit.edu	37	2	218700812	218700812	+	Missense_Mutation	SNP	G	G	A	rs115718079		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:218700812G>A	ENST00000171887.4	-	18	3207	c.2755C>T	c.(2755-2757)Cgc>Tgc	p.R919C	TNS1_ENST00000430930.1_Missense_Mutation_p.R919C|TNS1_ENST00000419504.1_Missense_Mutation_p.R919C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	919					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.R919C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACAGGGGAGCGAACCCCAGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16906	0.0		0.001	False		,,,				2504	0.0				p.R919C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2755T	2						.	G	CYS/ARG	0,4406		0,0,2203	81.0	80.0	80.0		2755	5.3	1.0	2	dbSNP_133	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNS1	NM_022648.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	919/1736	218700812	1,13005	2203	4300	6503	218409057	SO:0001583	missense	7145	exon18			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2755C>T	2.37:g.218700812G>A	ENSP00000171887:p.Arg919Cys		218409057	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.3	4.823183	0.90873	0.0	1.16E-4	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.93763	-3.24;1.7;-3.28;-3.23	5.28	5.28	0.74379	.	0.110120	0.64402	D	0.000006	D	0.94095	0.8107	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.993	D	0.94752	0.7928	10	0.62326	D	0.03	.	17.8577	0.88771	0.0:0.0:1.0:0.0	.	919;919;919	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	C	919;78;919;919	ENSP00000171887:R919C;ENSP00000394171:R78C;ENSP00000408724:R919C;ENSP00000406016:R919C	ENSP00000171887:R919C	R	-	1	0	TNS1	218409057	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	8.278000	0.89899	2.746000	0.94184	0.655000	0.94253	CGC		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
COL4A4	1286	broad.mit.edu	37	2	227958985	227958985	+	Missense_Mutation	SNP	G	G	C	rs377292825		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:227958985G>C	ENST00000396625.3	-	20	1432	c.1225C>G	c.(1225-1227)Cca>Gca	p.P409A	COL4A4_ENST00000329662.7_Missense_Mutation_p.P409A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	409	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P409A(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATCCTTGTGGCCCAGGGGGT	0.473																																					p.P409A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1225G	2						.						35.0	37.0	36.0					2																	227958985		1844	4082	5926	227667229	SO:0001583	missense	1286	exon20				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1225C>G	2.37:g.227958985G>C	ENSP00000379866:p.Pro409Ala		227667229	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	6.955	0.545990	0.13312	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93076	-3.16;-3.16	5.31	3.5	0.40072	.	.	.	.	.	D	0.89815	0.6824	L	0.56199	1.76	0.09310	N	0.999996	B	0.33345	0.409	B	0.36378	0.223	T	0.77686	-0.2495	9	0.08381	T	0.77	.	10.5395	0.45024	0.1614:0.0:0.8386:0.0	.	409	P53420	CO4A4_HUMAN	A	409	ENSP00000379866:P409A;ENSP00000328553:P409A	ENSP00000328553:P409A	P	-	1	0	COL4A4	227667229	0.995000	0.38212	0.150000	0.22450	0.877000	0.50540	2.807000	0.47955	1.230000	0.43646	0.563000	0.77884	CCA		0.473	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
FBXO36	130888	broad.mit.edu	37	2	230841017	230841017	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:230841017G>A	ENST00000283946.3	+	2	175	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	RNU6-1027P_ENST00000383998.1_RNA|FBXO36_ENST00000409992.1_Missense_Mutation_p.E53K|FBXO36_ENST00000373652.3_Missense_Mutation_p.E22K	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	53								p.E53K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAAACCTGGAGAAGCAAAAGA	0.338																																					p.E53K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G157A	2						.						69.0	70.0	70.0					2																	230841017		2203	4300	6503	230549261	SO:0001583	missense	130888	exon2			BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.157G>A	2.37:g.230841017G>A	ENSP00000283946:p.Glu53Lys		230549261	NM_174899	B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429213	0.83776	.	.	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T	0.52057	0.68;0.7	5.74	4.85	0.62838	.	0.212696	0.36893	N	0.002348	T	0.60444	0.2269	M	0.81942	2.565	0.32082	N	0.593055	P;P;D	0.57571	0.849;0.849;0.98	P;P;P	0.52598	0.478;0.478;0.703	T	0.72228	-0.4354	10	0.66056	D	0.02	-12.9413	12.372	0.55260	0.0808:0.0:0.9192:0.0	.	22;53;53	B3KVQ6;Q8NEA4;B8ZZQ1	.;FBX36_HUMAN;.	K	22;53;53	ENSP00000362756:E22K;ENSP00000283946:E53K	ENSP00000283946:E53K	E	+	1	0	FBXO36	230549261	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	4.030000	0.57260	2.740000	0.93945	0.555000	0.69702	GAA		0.338	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899	
ATAD2B	54454	broad.mit.edu	37	2	24033201	24033201	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:24033201C>A	ENST00000238789.5	-	18	2782	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	813						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATGATTCCTCAGGTGTTT	0.398																																					p.E813D												.	.	0			c.G2439T	2						.						92.0	95.0	94.0					2																	24033201		1888	4120	6008	23886705	SO:0001583	missense	54454	exon18			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2439G>T	2.37:g.24033201C>A	ENSP00000238789:p.Glu813Asp		23886705	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.529708|3.529708	0.64860|0.64860	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	D|.	0.95588|.	-3.75|.	5.51|5.51	2.96|2.96	0.34315|0.34315	.|.	0.656013|.	0.15498|.	N|.	0.259194|.	T|T	0.71341|0.71341	0.3328|0.3328	M|M	0.80847|0.80847	2.515|2.515	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.69078|.	0.995;0.997|.	D;D|.	0.69824|.	0.925;0.966|.	T|T	0.71094|0.71094	-0.4692|-0.4692	10|5	0.66056|.	D|.	0.02|.	.|.	8.9403|8.9403	0.35725|0.35725	0.0:0.2146:0.0:0.7854|0.0:0.2146:0.0:0.7854	.|.	813;813|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	D|M	813|94	ENSP00000238789:E813D|.	ENSP00000238789:E813D|.	E|R	-|-	3|2	2|0	ATAD2B|ATAD2B	23886705|23886705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.090000|2.090000	0.41682|0.41682	1.020000|1.020000	0.39573|0.39573	-0.290000|-0.290000	0.09829|0.09829	GAG|AGG		0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
PNPT1	87178	broad.mit.edu	37	2	55895051	55895051	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:55895051A>T	ENST00000447944.2	-	12	1105	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	340					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.F340Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACAACATTGAAGGATTCTAT	0.294																																					p.F340Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1019A	2						.						54.0	57.0	56.0					2																	55895051		2202	4295	6497	55748555	SO:0001583	missense	87178	exon12			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1019T>A	2.37:g.55895051A>T	ENSP00000400646:p.Phe340Tyr		55748555	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778482	0.90195	.	.	ENSG00000138035	ENST00000447944	T	0.60299	0.2	5.83	5.83	0.93111	Polynucleotide phosphorylase, phosphorolytic RNA-binding, bacterial/organelle-type (3);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	L	0.58669	1.825	0.80722	D	1	P	0.41848	0.763	P	0.45946	0.498	T	0.67146	-0.5744	10	0.87932	D	0	-9.3164	16.5602	0.84551	1.0:0.0:0.0:0.0	.	340	Q8TCS8	PNPT1_HUMAN	Y	340	ENSP00000400646:F340Y	ENSP00000386075:F340Y	F	-	2	0	PNPT1	55748555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.784000	0.91818	2.367000	0.80283	0.529000	0.55759	TTC		0.294	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
USP40	55230	broad.mit.edu	37	2	234431927	234431927	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr2:234431927C>T	ENST00000427112.2	-	15	2122	c.2087G>A	c.(2086-2088)gGt>gAt	p.G696D	USP40_ENST00000450966.1_Missense_Mutation_p.G708D|USP40_ENST00000251722.6_Missense_Mutation_p.G696D			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	696					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G708D(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACCCTCCCCACCTGGACATCC	0.507																																					p.V628M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1882A	2						.						167.0	158.0	161.0					2																	234431927		1968	4162	6130	234096666	SO:0001583	missense	55230	exon14			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2087G>A	2.37:g.234431927C>T	ENSP00000387898:p.Gly696Asp		234096666	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300116	0.23650	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04970	3.52;3.52;3.52	5.64	1.02	0.19986	.	0.856446	0.10639	N	0.651206	T	0.03915	0.0110	L	0.33485	1.01	0.09310	N	1	B;B	0.18310	0.009;0.027	B;B	0.16289	0.007;0.015	T	0.47156	-0.9139	10	0.07990	T	0.79	.	3.3493	0.07146	0.0:0.3472:0.2089:0.4439	.	696;708	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	D	708;696;696	ENSP00000415434:G708D;ENSP00000251722:G696D;ENSP00000387898:G696D	ENSP00000251722:G696D	G	-	2	0	USP40	234096666	0.004000	0.15560	0.022000	0.16811	0.018000	0.09664	1.417000	0.34770	0.722000	0.32252	0.655000	0.94253	GGT		0.507	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
CASR	846	broad.mit.edu	37	3	121994818	121994818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:121994818G>A	ENST00000490131.1	+	5	1909	c.1537G>A	c.(1537-1539)Gtc>Atc	p.V513I	CASR_ENST00000296154.5_Missense_Mutation_p.V513I|CASR_ENST00000498619.1_Missense_Mutation_p.V513I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	513					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.V513I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTATTACAACGTCTATGCCAA	0.502																																					p.V513I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1537A	3						.						157.0	147.0	150.0					3																	121994818		2203	4300	6503	123477508	SO:0001583	missense	846	exon5			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1537G>A	3.37:g.121994818G>A	ENSP00000418685:p.Val513Ile		123477508	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063699	0.36373	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.85955	-2.05;-2.05;-2.05	5.49	5.49	0.81192	.	0.258956	0.45361	D	0.000365	T	0.75280	0.3828	N	0.12182	0.205	0.38903	D	0.957371	B;B	0.21452	0.056;0.016	B;B	0.10450	0.005;0.001	T	0.70761	-0.4784	10	0.36615	T	0.2	.	18.7282	0.91722	0.0:0.0:1.0:0.0	.	513;513	E7ENE0;P41180	.;CASR_HUMAN	I	513	ENSP00000418685:V513I;ENSP00000420194:V513I;ENSP00000296154:V513I	ENSP00000296154:V513I	V	+	1	0	CASR	123477508	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.010000	0.64004	2.734000	0.93682	0.655000	0.94253	GTC		0.502	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
KALRN	8997	broad.mit.edu	37	3	124237294	124237294	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:124237294C>A	ENST00000240874.3	+	34	5134	c.4977C>A	c.(4975-4977)ttC>ttA	p.F1659L	KALRN_ENST00000360013.3_Intron|KALRN_ENST00000393496.1_Intron|KALRN_ENST00000460856.1_Missense_Mutation_p.F1650L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	0	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1659L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGATCCTTTCTCCACTTACG	0.552																																					p.F1659L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4977A	3						.						152.0	130.0	138.0					3																	124237294		2203	4300	6503	125719984	SO:0001583	missense	8997	exon34			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4977C>A	3.37:g.124237294C>A	ENSP00000240874:p.Phe1659Leu		125719984	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926244	0.52759	.	.	ENSG00000160145	ENST00000460856;ENST00000240874	T;T	0.47528	0.92;0.84	5.35	5.35	0.76521	.	.	.	.	.	T	0.46014	0.1371	N	0.08118	0	0.80722	D	1	B;B	0.34399	0.323;0.452	P;P	0.51806	0.481;0.68	T	0.53236	-0.8467	9	0.62326	D	0.03	.	14.7506	0.69522	0.0:1.0:0.0:0.0	.	1650;1659	C9IZQ6;O60229-2	.;.	L	1650;1659	ENSP00000418611:F1650L;ENSP00000240874:F1659L	ENSP00000240874:F1659L	F	+	3	2	KALRN	125719984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.303000	0.51858	2.941000	0.99782	0.655000	0.94253	TTC		0.552	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
MLH1	4292	broad.mit.edu	37	3	37091981	37091981	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:37091981A>C	ENST00000231790.2	+	19	2324	c.2108A>C	c.(2107-2109)gAa>gCa	p.E703A	MLH1_ENST00000539477.1_Missense_Mutation_p.E462A|MLH1_ENST00000455445.2_Missense_Mutation_p.E462A|MLH1_ENST00000435176.1_Missense_Mutation_p.E605A|MLH1_ENST00000536378.1_Intron|MLH1_ENST00000458205.2_Missense_Mutation_p.E462A	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	703					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)|p.E703A(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCCAGAGTGAAGTGCCTGGC	0.478		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E703A		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.A2108C	3						.						89.0	79.0	82.0					3																	37091981		2203	4300	6503	37066985	SO:0001583	missense	4292	exon19	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.2108A>C	3.37:g.37091981A>C	ENSP00000231790:p.Glu703Ala		37066985	NM_000249	B4DI13|B4DQ11|E9PCU2	Nonstop_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	14.93|14.93|14.93	2.681168|2.681168|2.681168	0.47886|0.47886|0.47886	.|.|.	.|.|.	ENSG00000076242|ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176|ENST00000396438;ENST00000456676;ENST00000413740|ENST00000450420	D;D;D;D;D|D|.	0.90676|0.89270|.	-2.71;-2.71;-2.71;-2.71;-2.71|-2.49|.	5.41|5.41|5.41	4.24|4.24|4.24	0.50183|0.50183|0.50183	.|.|.	1.126930|.|.	0.06500|.|.	N|.|.	0.736220|.|.	T|T|.	0.53610|0.53610|.	0.1807|0.1807|.	M|M|M	0.63428|0.63428|0.63428	1.95|1.95|1.95	0.27443|0.27443|0.27443	N|N|N	0.953663|0.953663|0.953663	B;B;B;B;B|.|.	0.11235|.|.	0.004;0.004;0.004;0.004;0.002|.|.	B;B;B;B;B|.|.	0.08055|.|.	0.003;0.003;0.003;0.003;0.003|.|.	T|T|.	0.46748|0.46748|.	-0.9169|-0.9169|.	10|7|.	0.09084|0.66056|.	T|D|.	0.74|0.02|.	-0.4433|-0.4433|-0.4433	11.3433|11.3433|11.3433	0.49546|0.49546|0.49546	0.8481:0.1519:0.0:0.0|0.8481:0.1519:0.0:0.0|0.8481:0.1519:0.0:0.0	.|.|.	605;703;462;703;703|.|.	E9PCU2;B2R6K0;B4DI13;Q53GX1;P40692|.|.	.;.;.;.;MLH1_HUMAN|.|.	A|Q|C	703;498;121;462;462;462;605|101;626;99|62	ENSP00000231790:E703A;ENSP00000402667:E462A;ENSP00000443665:E462A;ENSP00000398272:E462A;ENSP00000402564:E605A|ENSP00000416476:K99Q|.	ENSP00000231790:E703A|ENSP00000379715:K101Q|.	E|K|X	+|+|+	2|1|3	0|0|0	MLH1|MLH1|MLH1	37066985|37066985|37066985	0.919000|0.919000|0.919000	0.31177|0.31177|0.31177	0.128000|0.128000|0.128000	0.21923|0.21923|0.21923	0.656000|0.656000|0.656000	0.38851|0.38851|0.38851	2.829000|2.829000|2.829000	0.48128|0.48128|0.48128	0.884000|0.884000|0.884000	0.36064|0.36064|0.36064	0.529000|0.529000|0.529000	0.55759|0.55759|0.55759	GAA|AAG|TGA		0.478	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
XIRP1	165904	broad.mit.edu	37	3	39228221	39228221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:39228221C>T	ENST00000340369.3	-	2	2944	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	XIRP1_ENST00000396251.1_Missense_Mutation_p.A906T|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	906					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.A906T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCAGTCAGTGCGACCAGGCCC	0.612																																					p.A906T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2716A	3						.						33.0	31.0	32.0					3																	39228221		2203	4300	6503	39203225	SO:0001583	missense	165904	exon2			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2716G>A	3.37:g.39228221C>T	ENSP00000343140:p.Ala906Thr		39203225	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	5.814	0.334536	0.11013	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04917	3.53;3.93	5.03	0.909	0.19332	.	0.578130	0.18015	N	0.154422	T	0.04543	0.0124	L	0.44542	1.39	0.09310	N	1	B;B	0.31680	0.297;0.335	B;B	0.25614	0.027;0.062	T	0.37549	-0.9701	10	0.32370	T	0.25	.	3.9515	0.09371	0.3315:0.4165:0.0:0.2519	.	906;906	Q702N8;Q702N8-2	XIRP1_HUMAN;.	T	906	ENSP00000379550:A906T;ENSP00000343140:A906T	ENSP00000343140:A906T	A	-	1	0	XIRP1	39203225	0.000000	0.05858	0.037000	0.18230	0.145000	0.21501	0.088000	0.14979	0.196000	0.20367	0.655000	0.94253	GCA		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
TGM4	7047	broad.mit.edu	37	3	44955078	44955078	+	Missense_Mutation	SNP	C	C	T	rs146688346	byFrequency	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:44955078C>T	ENST00000296125.4	+	14	1984	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	639					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T639M(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTTCCAGGACGGTGCAGCCT	0.433											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	72	0.014377	0.0507	0.0043	5008	,	,		20399	0.0		0.001	False		,,,				2504	0.001				p.T639M												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C1916T	3						.	C	MET/THR	119,4287	89.7+/-128.4	0,119,2084	76.0	72.0	73.0		1916	-0.6	0.0	3	dbSNP_134	73	0,8600		0,0,4300	yes	missense	TGM4	NM_003241.3	81	0,119,6384	TT,TC,CC		0.0,2.7009,0.915	possibly-damaging	639/685	44955078	119,12887	2203	4300	6503	44930082	SO:0001583	missense	7047	exon14			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1916C>T	3.37:g.44955078C>T	ENSP00000296125:p.Thr639Met	927	44930082	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	14	0.00641025641025641	10	0.02032520325203252	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	12.43	1.936427	0.34189	0.027009	0.0	ENSG00000163810	ENST00000296125	T	0.70749	-0.51	3.05	-0.609	0.11608	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.400014	0.15785	U	0.244713	T	0.33614	0.0869	L	0.54323	1.7	0.09310	N	1	P	0.39964	0.697	B	0.38842	0.283	T	0.43988	-0.9357	10	0.59425	D	0.04	.	3.2408	0.06780	0.3999:0.309:0.0:0.2911	.	639	P49221	TGM4_HUMAN	M	639	ENSP00000296125:T639M	ENSP00000296125:T639M	T	+	2	0	TGM4	44930082	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	-0.077000	0.11394	0.047000	0.15862	-0.345000	0.07892	ACG		0.433	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
USP4	7375	broad.mit.edu	37	3	49336062	49336062	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:49336062C>T	ENST00000265560.4	-	12	1565	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	USP4_ENST00000351842.4_Missense_Mutation_p.V460M|USP4_ENST00000488520.1_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	507	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V507M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GGCACAGTCACACGGTACTGC	0.587																																					p.V460M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1378A	3						.						144.0	127.0	133.0					3																	49336062		2203	4300	6503	49311066	SO:0001583	missense	7375	exon11			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1519G>A	3.37:g.49336062C>T	ENSP00000265560:p.Val507Met		49311066	NM_199443	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.094888|4.094888	0.76870|0.76870	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.28666	.|1.6;1.66	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.163095	.|0.53938	.|D	.|0.000049	T|T	0.59280|0.59280	0.2182|0.2182	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.50272	.|0.802;0.221;0.933	.|B;B;P	.|0.57057	.|0.382;0.216;0.812	T|T	0.63721|0.63721	-0.6573|-0.6573	5|10	.|0.87932	.|D	.|0	-25.1174|-25.1174	19.1729|19.1729	0.93588|0.93588	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|460;507;507	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	Y|M	245|460;507	.|ENSP00000341028:V460M;ENSP00000265560:V507M	.|ENSP00000265560:V507M	C|V	-|-	2|1	0|0	USP4|USP4	49311066|49311066	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.988000|0.988000	0.76386|0.76386	4.705000|4.705000	0.61838|0.61838	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.587	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	
DOCK3	1795	broad.mit.edu	37	3	51393610	51393610	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:51393610G>A	ENST00000266037.9	+	42	4363	c.4340G>A	c.(4339-4341)cGc>cAc	p.R1447H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1447H(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCTTCTATCGCGTCAACAAT	0.483																																					p.S1433S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4299A	3						.						133.0	126.0	128.0					3																	51393610		1954	4160	6114	51368650	SO:0001583	missense	1795	exon42			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4340G>A	3.37:g.51393610G>A	ENSP00000266037:p.Arg1447His		51368650	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889324	0.91889	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19250	2.16	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	M	0.66378	2.025	0.58432	D	0.999993	D	0.76494	0.999	D	0.65773	0.938	T	0.12016	-1.0564	10	0.49607	T	0.09	.	12.7559	0.57335	0.0753:0.0:0.9247:0.0	.	1447	Q8IZD9	DOCK3_HUMAN	H	1447;243	ENSP00000266037:R1447H	ENSP00000266037:R1447H	R	+	2	0	DOCK3	51368650	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	7.950000	0.87804	2.665000	0.90641	0.561000	0.74099	CGC		0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
PDE12	201626	broad.mit.edu	37	3	57542759	57542759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:57542759C>T	ENST00000311180.8	+	1	756	c.653C>T	c.(652-654)cCc>cTc	p.P218L	PDE12_ENST00000487257.1_Missense_Mutation_p.P218L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	218					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.P218L(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCATTGTCTCCCTCCTCACCT	0.597																																					p.P218L	Colon(125;308 1634 19198 50622 50717)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C653T	3						.						141.0	137.0	139.0					3																	57542759		2203	4300	6503	57517799	SO:0001583	missense	201626	exon1			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.653C>T	3.37:g.57542759C>T	ENSP00000309142:p.Pro218Leu		57517799	NM_177966	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	2.449	-0.326914	0.05350	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.22336	1.96;1.98	4.88	2.99	0.34606	.	0.820630	0.10733	N	0.640358	T	0.10766	0.0263	N	0.08118	0	0.22156	N	0.999329	B;B	0.12013	0.001;0.005	B;B	0.15484	0.005;0.013	T	0.34650	-0.9820	10	0.30078	T	0.28	-1.6022	7.8592	0.29499	0.1916:0.6373:0.171:0.0	.	218;218	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	L	218	ENSP00000420626:P218L;ENSP00000309142:P218L	ENSP00000309142:P218L	P	+	2	0	PDE12	57517799	0.965000	0.33210	0.325000	0.25375	0.017000	0.09413	0.000000	0.12993	0.509000	0.28195	0.561000	0.74099	CCC		0.597	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966	
DBR1	51163	broad.mit.edu	37	3	137882199	137882199	+	Silent	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr3:137882199C>A	ENST00000260803.4	-	7	1086	c.933G>T	c.(931-933)ctG>ctT	p.L311L	DBR1_ENST00000505015.2_Silent_p.L77L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	311					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.L311L(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACCTTGCATGCAGGCCATTAT	0.388																																					p.L311L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G933T	3						.						99.0	90.0	93.0					3																	137882199		2203	4300	6503	139364889	SO:0001819	synonymous_variant	51163	exon7			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.933G>T	3.37:g.137882199C>A			139364889	NM_016216	Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	37	CCDS33863.1																																																																																				0.388	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
ABLIM2	84448	broad.mit.edu	37	4	8022004	8022005	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:8022004_8022005insG	ENST00000341937.5	-	12	1258_1259	c.1194_1195insC	c.(1192-1197)cccagcfs	p.S399fs	ABLIM2_ENST00000545242.1_Frame_Shift_Ins_p.S399fs|RP11-338K13.1_ENST00000608962.1_RNA|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000296372.8_Frame_Shift_Ins_p.S399fs|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000447017.2_Frame_Shift_Ins_p.S432fs|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000361581.5_Frame_Shift_Ins_p.S399fs|ABLIM2_ENST00000428004.2_Intron	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	399					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.S432fs*7(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACGGAGAGGCTGGGGGTGCTCC	0.599																																					p.S432fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1294_1295insC	4						.																																			8072905	SO:0001589	frameshift_variant	84448	exon13			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1195dupC	4.37:g.8022009_8022009dupG	ENSP00000342813:p.Ser399fs		8072904	NM_001130083	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Frame_Shift_Ins	INS	ENST00000341937.5	37	CCDS47013.1																																																																																				0.599	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083	
GUCY1B3	2983	broad.mit.edu	37	4	156716530	156716530	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:156716530C>T	ENST00000264424.8	+	7	846	c.764C>T	c.(763-765)tCg>tTg	p.S255L	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.S187L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.S255L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.S187L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.S187L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.S235L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.S277L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	255					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.S255L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCTGTCTTCTCGCTGGTTCGT	0.348																																					p.S255L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C764T	4						.						141.0	132.0	135.0					4																	156716530		1849	4095	5944	156935980	SO:0001583	missense	2983	exon7			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.764C>T	4.37:g.156716530C>T	ENSP00000264424:p.Ser255Leu		156935980	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854729	0.71719	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.77	5.77	0.91146	Haem NO binding associated (1);	0.000000	0.85682	D	0.000000	D	0.84334	0.5449	N	0.19112	0.55	0.80722	D	1	B;B;D;B;B	0.53151	0.076;0.043;0.958;0.062;0.016	B;B;P;B;B	0.44623	0.01;0.023;0.455;0.006;0.01	T	0.82602	-0.0376	10	0.26408	T	0.33	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	235;277;187;255;255	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	L	187;277;235;187;255;255;187	ENSP00000427226:S187L;ENSP00000426786:S277L;ENSP00000426319:S235L;ENSP00000422313:S187L;ENSP00000264424:S255L;ENSP00000420842:S255L;ENSP00000425065:S187L	ENSP00000264424:S255L	S	+	2	0	GUCY1B3	156935980	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.283000	0.78640	2.885000	0.99019	0.655000	0.94253	TCG		0.348	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
EVC2	132884	broad.mit.edu	37	4	5624668	5624668	+	Silent	SNP	C	C	G	rs556009947		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:5624668C>G	ENST00000344408.5	-	14	2150	c.2097G>C	c.(2095-2097)acG>acC	p.T699T	EVC2_ENST00000344938.1_Silent_p.T699T|EVC2_ENST00000310917.2_Silent_p.T619T	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	699			T -> A (in dbSNP:rs730469).		smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T699T(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CATCCTCAACCGTTCGGAAGG	0.637																																					p.T619T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1857C	4						.						51.0	56.0	54.0					4																	5624668		2203	4300	6503	5675569	SO:0001819	synonymous_variant	132884	exon14			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2097G>C	4.37:g.5624668C>G			5675569	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.637	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EREG	2069	broad.mit.edu	37	4	75250454	75250454	+	Silent	SNP	C	C	A	rs376236920		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:75250454C>A	ENST00000244869.2	+	5	605	c.439C>A	c.(439-441)Cga>Aga	p.R147R	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	147	Arg/Lys-rich (basic).		R -> Q (in dbSNP:rs35275884).		anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)	p.R147R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GTACAGAAATCGAAAAAGTAA	0.418																																					p.R147R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C439A	4						.						84.0	86.0	85.0					4																	75250454		2203	4300	6503	75469318	SO:0001819	synonymous_variant	2069	exon5			D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.439C>A	4.37:g.75250454C>A			75469318	NM_001432	B2RC66|Q6FH69	Silent	SNP	ENST00000244869.2	37	CCDS3564.1																																																																																				0.418	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1		
DMP1	1758	broad.mit.edu	37	4	88584262	88584262	+	Silent	SNP	C	C	T	rs375513808		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:88584262C>T	ENST00000339673.6	+	6	1431	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	DMP1_ENST00000282479.7_Silent_p.S428S|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	444					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.S444S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGAGTCAGAGCGAGGAAAGCC	0.547																																					p.S428S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284T	4						.	C	,	0,4406		0,0,2203	68.0	63.0	65.0		1284,1332	-8.0	0.0	4		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DMP1	NM_001079911.2,NM_004407.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	428/498,444/514	88584262	1,13005	2203	4300	6503	88803286	SO:0001819	synonymous_variant	1758	exon5			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1332C>T	4.37:g.88584262C>T			88803286	NM_001079911	A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																				0.547	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1		
ABCG2	9429	broad.mit.edu	37	4	89036209	89036209	+	Splice_Site	SNP	A	A	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:89036209A>G	ENST00000237612.3	-	8	1388	c.843T>C	c.(841-843)ggT>ggC	p.G281G	ABCG2_ENST00000515655.1_Splice_Site_p.G281G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	281	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G281G(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CACAGTGATAACCTATGAAAG	0.418																																					p.G281G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T843C	4						.						79.0	78.0	78.0					4																	89036209		2203	4300	6503	89255233	SO:0001630	splice_region_variant	9429	exon8			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.842-1T>C	4.37:g.89036209A>G			89255233	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1																																																																																				0.418	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Silent
DCTD	1635	broad.mit.edu	37	4	183836627	183836627	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr4:183836627T>C	ENST00000438320.2	-	2	385	c.95A>G	c.(94-96)gAt>gGt	p.D32G	DCTD_ENST00000510370.1_Missense_Mutation_p.D32G|DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000357067.3_Missense_Mutation_p.D43G	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	32					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.D32G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	GGAATTTGGATCTTTGCTTCT	0.458																																					p.D32G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A95G	4						.						117.0	125.0	122.0					4																	183836627		2203	4300	6503	184073621	SO:0001583	missense	1635	exon2			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.95A>G	4.37:g.183836627T>C	ENSP00000398194:p.Asp32Gly		184073621	NM_001921	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598476	0.87055	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.7	4.7	0.59300	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68183	-0.5476	10	0.87932	D	0	-2.3715	14.6315	0.68660	0.0:0.0:0.0:1.0	.	43;32	P32321-2;P32321	.;DCTD_HUMAN	G	43;32;32;32;32;32;32;32;32	ENSP00000349576:D43G;ENSP00000398194:D32G;ENSP00000424017:D32G;ENSP00000422662:D32G;ENSP00000424050:D32G;ENSP00000423182:D32G;ENSP00000423894:D32G;ENSP00000421792:D32G;ENSP00000422729:D32G	ENSP00000349576:D43G	D	-	2	0	DCTD	184073621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.510000	0.81708	2.095000	0.63458	0.533000	0.62120	GAT		0.458	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2		
APC	324	broad.mit.edu	37	5	112175429	112175430	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:112175429_112175430insC	ENST00000457016.1	+	16	4518_4519	c.4138_4139insC	c.(4138-4140)accfs	p.T1380fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.T1380fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.T1380fs			P25054	APC_HUMAN	adenomatous polyposis coli	1380	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L1382fs*4(2)|p.?(1)|p.Q1378fs*5(1)|p.T1380fs*6(1)|p.K1192fs*3(1)|p.T1380fs*5(1)|p.P1381fs*4(1)|p.Y1376fs*41(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTTCAGGAGACCCCACTCATG	0.47		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.T1380fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	9	Deletion - Frameshift(5)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(7)|soft_tissue(1)|skin(1)	c.4138_4139insC	5						.																																			112203329	SO:0001589	frameshift_variant	324	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4142dupC	5.37:g.112175433_112175433dupC	ENSP00000413133:p.Thr1380fs		112203328	NM_000038	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.470	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TGFBI	7045	broad.mit.edu	37	5	135391453	135391454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:135391453_135391454insC	ENST00000442011.2	+	11	1656_1657	c.1495_1496insC	c.(1495-1497)accfs	p.T499fs	TGFBI_ENST00000305126.8_Frame_Shift_Ins_p.T499fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	499					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.M502fs*15(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGGGTGCTGACCCCCCCAATG	0.589																																					p.T499fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1495_1496insC	5						.																																			135419353	SO:0001589	frameshift_variant	7045	exon11			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1502dupC	5.37:g.135391460_135391460dupC	ENSP00000416330:p.Thr499fs		135419352	NM_000358	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Frame_Shift_Ins	INS	ENST00000442011.2	37	CCDS47266.1																																																																																				0.589	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1		
APC	324	broad.mit.edu	37	5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	rs587781392		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:112116592C>T	ENST00000457016.1	+	6	1017	c.637C>T	c.(637-639)Cga>Tga	p.R213*	APC_ENST00000508376.2_Nonsense_Mutation_p.R213*|APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|RNU6-482P_ENST00000391068.1_RNA			P25054	APC_HUMAN	adenomatous polyposis coli	213	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R213*(20)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATGGAAAAACGAGCACAGGT	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R223X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Nonsense,0 	.	20	Substitution - Nonsense(20)	large_intestine(19)|lung(1)	c.C667T	5	GRCh37	CM920027	APC	M		.						58.0	57.0	58.0					5																	112116592		2202	4300	6502	112144491	SO:0001587	stop_gained	324	exon5	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.637C>T	5.37:g.112116592C>T	ENSP00000413133:p.Arg213*		112144491	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046788	0.97231	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.56	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0079	14.2561	0.66053	0.4075:0.5925:0.0:0.0	.	.	.	.	X	213;223;213;213;213	.	ENSP00000257430:R213X	R	+	1	2	APC	112144491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	0.659000	0.30945	0.655000	0.94253	CGA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112176570	112176570	+	Missense_Mutation	SNP	C	C	G	rs562142144		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:112176570C>G	ENST00000457016.1	+	16	5659	c.5279C>G	c.(5278-5280)cCc>cGc	p.P1760R	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1760R|APC_ENST00000257430.4_Missense_Mutation_p.P1760R			P25054	APC_HUMAN	adenomatous polyposis coli	1760	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1760R(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTTCTGCACCCAACAAAAAT	0.393		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.P1742R	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	c.C5225G	5						.						51.0	51.0	51.0					5																	112176570		2202	4299	6501	112204469	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5279C>G	5.37:g.112176570C>G	ENSP00000413133:p.Pro1760Arg		112204469	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	0.713	-0.786438	0.02907	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89485	-2.52;-2.52;-2.52	6.16	2.1	0.27182	.	0.478517	0.26492	N	0.024069	T	0.73845	0.3639	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.003;0.006	T	0.59037	-0.7529	9	.	.	.	-0.5692	9.3022	0.37853	0.3969:0.2495:0.3536:0.0	.	1762;1760	Q4LE70;P25054	.;APC_HUMAN	R	1760	ENSP00000413133:P1760R;ENSP00000257430:P1760R;ENSP00000427089:P1760R	.	P	+	2	0	APC	112204469	0.765000	0.28485	0.851000	0.33527	0.060000	0.15804	1.217000	0.32455	0.899000	0.36444	-0.181000	0.13052	CCC		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA10	56139	broad.mit.edu	37	5	140236081	140236081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:140236081C>T	ENST00000307360.5	+	1	448	c.448C>T	c.(448-450)Cga>Tga	p.R150*	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.R150*|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R150*(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGATTTCCACT	0.438																																					p.R150X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C448T	5						.						123.0	129.0	127.0					5																	140236081		2197	4270	6467	140216265	SO:0001587	stop_gained	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.448C>T	5.37:g.140236081C>T	ENSP00000304234:p.Arg150*		140216265	NM_031860	A1L493|O75280|Q9NRU2	Nonsense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186629	0.78789	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	.	.	.	4.38	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0496	0.80745	0.6466:0.3534:0.0:0.0	.	.	.	.	X	150	.	ENSP00000304234:R150X	R	+	1	2	PCDHA10	140216265	0.000000	0.05858	0.414000	0.26521	0.980000	0.70556	-0.585000	0.05794	-0.067000	0.12976	-0.314000	0.08810	CGA		0.438	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA11	56138	broad.mit.edu	37	5	140250022	140250022	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:140250022C>A	ENST00000398640.2	+	1	1334	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	445	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTGGCCGACGTGAAC	0.632																																					p.A445D												.	.	0			c.C1334A	5						.						136.0	142.0	140.0					5																	140250022		2203	4300	6503	140230206	SO:0001583	missense	56138	exon1			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1334C>A	5.37:g.140250022C>A	ENSP00000381636:p.Ala445Asp		140230206	NM_031861	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908575	0.52439	.	.	ENSG00000249158	ENST00000398640	T	0.20598	2.06	5.66	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.31167	0.0788	L	0.59436	1.845	0.23101	N	0.998296	P;P	0.46912	0.708;0.886	P;P	0.50825	0.651;0.457	T	0.13926	-1.0491	9	0.87932	D	0	.	9.3581	0.38179	0.0:0.6758:0.2397:0.0845	.	445;445	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	D	445	ENSP00000381636:A445D	ENSP00000381636:A445D	A	+	2	0	PCDHA11	140230206	0.000000	0.05858	0.998000	0.56505	0.808000	0.45660	0.615000	0.24329	2.676000	0.91093	0.556000	0.70494	GCC		0.632	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHB3	56132	broad.mit.edu	37	5	140480345	140480346	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:140480345_140480346GA>CT	ENST00000231130.2	+	1	112_113	c.112_113GA>CT	c.(112-114)GAa>CTa	p.E38L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	38	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E38>?(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGCTGAGGAAAAAGAGAAG	0.51																																					.												.	.	1	Complex(1)	large_intestine(1)	c.112_113CT	5						.																																			140460530	SO:0001583	missense	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	Exception_encountered	5.37:g.140480345_140480346delinsCT	ENSP00000231130:p.Glu38Leu		140460529	NM_018937	B2R8P2	Missense_Mutation	DNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.510	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHGB3	56102	broad.mit.edu	37	5	140778448	140778448	+	Intron	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:140778448C>T	ENST00000576222.1	+	1	2546				PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGCCTTCGGGAAAACGT	0.537																																					p.R252W												.	.	0			c.C754T	5						.						77.0	85.0	82.0					5																	140778448		2079	4211	6290	140758632	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26072C>T	5.37:g.140778448C>T			140758632	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.537	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
ADAM19	8728	broad.mit.edu	37	5	156917413	156917413	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:156917413C>T	ENST00000517905.1	-	19	2189	c.2145G>A	c.(2143-2145)gcG>gcA	p.A715A	ADAM19_ENST00000394020.1_Silent_p.A717A|ADAM19_ENST00000430702.2_Silent_p.A448A|ADAM19_ENST00000257527.4_Silent_p.A715A			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	715					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A716A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCATGAGGACCGCCAGCACCA	0.532																																					p.A715A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2145A	5						.						187.0	169.0	175.0					5																	156917413		2203	4300	6503	156849991	SO:0001819	synonymous_variant	8728	exon19			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2145G>A	5.37:g.156917413C>T			156849991	NM_033274	Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	C	5.340	0.248114	0.10130	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.41	-3.55	0.04639	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26395	-1.0104	4	.	.	.	.	0.5251	0.00619	0.2932:0.2895:0.2089:0.2084	.	.	.	.	Q	286	.	.	R	-	2	0	ADAM19	156849991	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.141000	0.03207	-0.450000	0.07107	-0.165000	0.13383	CGG		0.532	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
CDH18	1016	broad.mit.edu	37	5	19612633	19612633	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:19612633T>G	ENST00000507958.1	-	8	1711	c.721A>C	c.(721-723)Atg>Ctg	p.M241L	CDH18_ENST00000502796.1_Missense_Mutation_p.M241L|CDH18_ENST00000511273.1_Missense_Mutation_p.M241L|CDH18_ENST00000506372.1_Missense_Mutation_p.M241L|CDH18_ENST00000382275.1_Missense_Mutation_p.M241L|CDH18_ENST00000274170.4_Missense_Mutation_p.M241L			Q13634	CAD18_HUMAN	cadherin 18, type 2	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M241L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCCCAGCCATGTCTTTGGCT	0.413																																					p.M241L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A721C	5						.						143.0	132.0	136.0					5																	19612633		2203	4300	6503	19648390	SO:0001583	missense	1016	exon6			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.721A>C	5.37:g.19612633T>G	ENSP00000425093:p.Met241Leu		19648390	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	31	5.072176	0.93950	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	N	0.25380	0.74	0.52501	D	0.999954	D;D	0.71674	0.976;0.998	D;D	0.83275	0.912;0.996	T	0.53450	-0.8437	9	.	.	.	.	15.2309	0.73386	0.0:0.0:0.0:1.0	.	241;241	B4DHG6;Q13634	.;CAD18_HUMAN	L	241;241;241;241;241;241;187;241	ENSP00000371710:M241L;ENSP00000425093:M241L;ENSP00000274170:M241L;ENSP00000424931:M241L;ENSP00000422138:M241L;ENSP00000427383:M187L;ENSP00000425854:M241L	.	M	-	1	0	CDH18	19648390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.890000	0.87313	2.272000	0.75746	0.460000	0.39030	ATG		0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
ADAMTS2	9509	broad.mit.edu	37	5	178585769	178585769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr5:178585769C>T	ENST00000251582.7	-	6	1188	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A363T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	363	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A363T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGAAGATGGCGTGATCGTGG	0.612																																					p.A363T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1087A	5						.						158.0	136.0	144.0					5																	178585769		2203	4300	6503	178518375	SO:0001583	missense	9509	exon6			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1087G>A	5.37:g.178585769C>T	ENSP00000251582:p.Ala363Thr		178518375	NM_021599		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365399	0.95900	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.70282	-0.47;-0.47	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000031	D	0.83741	0.5320	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.84683	0.0718	10	0.87932	D	0	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	363;363	O95450-2;O95450	.;ATS2_HUMAN	T	363	ENSP00000251582:A363T;ENSP00000274609:A363T	ENSP00000251582:A363T	A	-	1	0	ADAMTS2	178518375	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.669000	0.83911	2.695000	0.91970	0.650000	0.86243	GCC		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
PRIM2	5558	broad.mit.edu	37	6	57513140	57513141	+	3'UTR	INS	-	-	AACA	rs140765588|rs56224260|rs566383684	byFrequency	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	-	-	-	AACA	-	AACA	Unknown	Valid	Germline	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:57513140_57513141insAACA	ENST00000389488.2	+	0	2055_2056				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTGAGGTAACGAGACTTTCAC	0.366																																					.												.	.	0			.	6						.																																			57621100	SO:0001624	3_prime_UTR_variant	5558	.				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*2053->AACA	6.37:g.57513140_57513141insAACA			57621099	.	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37																																																																																					0.366	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	
SOGA3	387104	broad.mit.edu	37	6	127796588	127796588	+	Silent	SNP	G	G	A	rs374876819		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:127796588G>A	ENST00000525778.1	-	6	3328	c.2583C>T	c.(2581-2583)gaC>gaT	p.D861D	SOGA3_ENST00000556132.1_Silent_p.D861D|SOGA3_ENST00000465909.2_Silent_p.D861D|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Silent_p.D861D|SOGA3_ENST00000368268.2_Silent_p.D861D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	861					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D861D(1)									TGCGGCTGCCGTCGTCCTCCT	0.642																																					p.D861D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2583T	6						.						55.0	67.0	63.0					6																	127796588		2169	4269	6438	127838281	SO:0001819	synonymous_variant	9729	exon6			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2583C>T	6.37:g.127796588G>A			127838281	NM_001012279		De_novo_Start_OutOfFrame	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																				0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
FNDC1	84624	broad.mit.edu	37	6	159653499	159653499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:159653499G>A	ENST00000297267.9	+	11	2155	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R589H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	652					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R652H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAGATGAGCGCGCTGTGGGC	0.677																																					p.R652H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1955A	6						.						30.0	35.0	33.0					6																	159653499		2050	4170	6220	159573489	SO:0001583	missense	84624	exon11			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1955G>A	6.37:g.159653499G>A	ENSP00000297267:p.Arg652His		159573489	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	g	11.03	1.517544	0.27123	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08282	3.11;3.87	4.06	-5.09	0.02920	.	1.251300	0.05499	N	0.558041	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.0	T	0.46275	-0.9203	10	0.49607	T	0.09	2.5948	0.4558	0.00508	0.3328:0.2595:0.123:0.2847	.	589;652	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	652;589	ENSP00000297267:R652H;ENSP00000342460:R589H	ENSP00000297267:R652H	R	+	2	0	FNDC1	159573489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.235000	0.01202	-0.707000	0.05022	-1.718000	0.00708	CGC		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
HIST1H1C	3006	broad.mit.edu	37	6	26056599	26056599	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:26056599C>G	ENST00000343677.2	-	1	100	c.58G>C	c.(58-60)Gta>Cta	p.V20L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	20					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.V20L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTCTTCTTTACAGGGGCCTTC	0.607																																					p.V20L												.	.	1	Substitution - Missense(1)	prostate(1)	c.G58C	6						.						32.0	38.0	36.0					6																	26056599		2201	4298	6499	26164578	SO:0001583	missense	3006	exon1			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.58G>C	6.37:g.26056599C>G	ENSP00000339566:p.Val20Leu		26164578	NM_005319	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.907029	0.17833	.	.	ENSG00000187837	ENST00000343677	T	0.07021	3.23	5.73	5.73	0.89815	.	0.633028	0.14780	N	0.298876	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.19148	0.024	T	0.45366	-0.9266	10	0.33141	T	0.24	-16.8637	12.5567	0.56257	0.0:0.9244:0.0:0.0756	.	20	P16403	H12_HUMAN	L	20	ENSP00000339566:V20L	ENSP00000339566:V20L	V	-	1	0	HIST1H1C	26164578	0.168000	0.22989	0.018000	0.16275	0.008000	0.06430	1.803000	0.38863	2.861000	0.98227	0.655000	0.94253	GTA		0.607	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319	
PM20D2	135293	broad.mit.edu	37	6	89864489	89864489	+	Silent	SNP	A	A	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:89864489A>T	ENST00000275072.4	+	4	875	c.780A>T	c.(778-780)gtA>gtT	p.V260V		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	260						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.V260V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ATGGTGGTGTAAAACCCAATA	0.318																																					p.V260V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A780T	6						.						75.0	87.0	83.0					6																	89864489		2203	4300	6503	89921208	SO:0001819	synonymous_variant	135293	exon4			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.780A>T	6.37:g.89864489A>T			89921208	NM_001010853	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Silent	SNP	ENST00000275072.4	37	CCDS34499.1																																																																																				0.318	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853	
CASP8AP2	9994	broad.mit.edu	37	6	90577712	90577728	+	RNA	DEL	CTTTGCCCAGACATGGA	CTTTGCCCAGACATGGA	-	rs202101805|rs202111256|rs201189413|rs199515704|rs202116886|rs200213073|rs537929246|rs200862023|rs199694900|rs201534830	byFrequency	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	CTTTGCCCAGACATGGA	CTTTGCCCAGACATGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:90577712_90577728delCTTTGCCCAGACATGGA	ENST00000551025.1	+	0	6140_6156									caspase 8 associated protein 2									p.S1568fs*1(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTATTGACATCTTTGCCCAGACATGGAAAGGAAGCTG	0.378														405	0.0808706	0.0061	0.0908	5008	,	,		25479	0.0437		0.1471	False		,,,				2504	0.1452				p.1568_1573del	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4703_4719del	6						.		,,	39,3633		3,33,1800					,,	1.7	0.1			158	479,7383		54,371,3506	no	frameshift,frameshift,frameshift	CASP8AP2	NM_012115.3,NM_001137668.1,NM_001137667.1	,,	57,404,5306	A1A1,A1R,RR		6.0926,1.0621,4.4911	,,	,,		518,11016				90634449			9994	exon8			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577712_90577728delCTTTGCCCAGACATGGA			90634433	NM_001137667		Frame_Shift_Del	DEL	ENST00000551025.1	37																																																																																					0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
C6orf118	168090	broad.mit.edu	37	6	165706921	165706921	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr6:165706921C>T	ENST00000230301.8	-	6	1121	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	C6orf118_ENST00000494696.2_5'Flank|C6orf118_ENST00000543069.1_Silent_p.Q263Q	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	367								p.Q367Q(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTTGCAGACTGCAGCAATG	0.453																																					p.Q367Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1101A	6						.						289.0	241.0	257.0					6																	165706921		2203	4300	6503	165626911	SO:0001819	synonymous_variant	168090	exon6				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1101G>A	6.37:g.165706921C>T			165626911	NM_144980	Q8TC11	Silent	SNP	ENST00000230301.8	37	CCDS5288.1																																																																																				0.453	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
SYPL1	6856	broad.mit.edu	37	7	105733415	105733415	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:105733415C>T	ENST00000011473.2	-	5	671	c.625G>A	c.(625-627)Gga>Aga	p.G209R	SYPL1_ENST00000470347.1_Missense_Mutation_p.G191R|SYPL1_ENST00000455385.2_Missense_Mutation_p.G191R	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	209	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)	p.G209R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						TTTAGGGATCCCATACTGGTC	0.323																																					p.G191R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	7						.						81.0	69.0	73.0					7																	105733415		2203	4300	6503	105520651	SO:0001583	missense	6856	exon4				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.625G>A	7.37:g.105733415C>T	ENSP00000011473:p.Gly209Arg		105520651	NM_182715	A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	CCDS5736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.433964|4.433964	0.83776|0.83776	.|.	.|.	ENSG00000008282|ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347|ENST00000464029	T;T;T|.	0.26067|.	1.76;1.76;1.76|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Marvel (1);MARVEL-like domain (1);|.	0.109613|.	0.64402|.	D|.	0.000007|.	T|.	0.74604|.	0.3738|.	M|M	0.67569|0.67569	2.06|2.06	0.51012|0.51012	D|D	0.999902|0.999902	D|.	0.65815|.	0.995|.	P|.	0.62298|.	0.9|.	T|.	0.72447|.	-0.4291|.	10|.	0.46703|.	T|.	0.11|.	-0.0354|-0.0354	18.5358|18.5358	0.91010|0.91010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209|.	Q16563|.	SYPL1_HUMAN|.	R|X	191;209;191|114	ENSP00000388336:G191R;ENSP00000011473:G209R;ENSP00000419070:G191R|.	ENSP00000011473:G209R|.	G|W	-|-	1|3	0|0	SYPL1|SYPL1	105520651|105520651	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.780000|3.780000	0.55386|0.55386	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.323	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1		
NRCAM	4897	broad.mit.edu	37	7	107880489	107880489	+	Missense_Mutation	SNP	G	G	A	rs368773637		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:107880489G>A	ENST00000425651.2	-	1	19	c.20C>T	c.(19-21)cCg>cTg	p.P7L	NRCAM_ENST00000413765.2_Missense_Mutation_p.P7L|NRCAM_ENST00000379028.3_Missense_Mutation_p.P7L|NRCAM_ENST00000379024.4_Missense_Mutation_p.P7L|NRCAM_ENST00000379022.4_Missense_Mutation_p.P7L|NRCAM_ENST00000351718.4_Missense_Mutation_p.P7L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	7					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.P7L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTTCTTTTTCGGCATTATTTT	0.423																																					p.P7L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C20T	7						.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	117.0	117.0	117.0		20,20,20,20,20	3.1	1.0	7		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRCAM	NM_001037132.2,NM_001193582.1,NM_001193583.1,NM_001193584.1,NM_005010.4	98,98,98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	7/1305,7/1212,7/1193,7/1181,7/1184	107880489	1,13005	2203	4300	6503	107667725	SO:0001583	missense	4897	exon1				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.20C>T	7.37:g.107880489G>A	ENSP00000401244:p.Pro7Leu		107667725	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096450	0.36952	0.0	1.16E-4	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.74209	0.45;0.72;0.44;0.51;0.45;0.49;-0.18;-0.8;-0.82;-0.82	5.87	3.12	0.35913	.	0.411883	0.26609	N	0.023435	T	0.53626	0.1808	L	0.29908	0.895	0.34040	D	0.654912	B;B;B;B;B	0.24618	0.101;0.037;0.012;0.02;0.107	B;B;B;B;B	0.18561	0.022;0.011;0.006;0.014;0.01	T	0.48937	-0.8990	10	0.12430	T	0.62	.	4.3774	0.11277	0.3465:0.0:0.5076:0.1459	.	7;7;7;7;7	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	L	7	ENSP00000368314:P7L;ENSP00000407858:P7L;ENSP00000325269:P7L;ENSP00000368310:P7L;ENSP00000401244:P7L;ENSP00000368308:P7L;ENSP00000390421:P7L;ENSP00000390868:P7L;ENSP00000397544:P7L;ENSP00000408203:P7L	ENSP00000325269:P7L	P	-	2	0	NRCAM	107667725	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.023000	0.30065	0.498000	0.27948	0.655000	0.94253	CCG		0.423	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
ASZ1	136991	broad.mit.edu	37	7	117025787	117025787	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:117025787C>T	ENST00000284629.2	-	5	579	c.517G>A	c.(517-519)Gca>Aca	p.A173T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.A173T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTAACTTCTGCTCCATGAGCA	0.393																																					p.A173T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	7						.						106.0	101.0	102.0					7																	117025787		2203	4300	6503	116813023	SO:0001583	missense	136991	exon5			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.517G>A	7.37:g.117025787C>T	ENSP00000284629:p.Ala173Thr		116813023	NM_130768		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640876	0.87859	.	.	ENSG00000154438	ENST00000284629	T	0.77358	-1.09	5.91	5.91	0.95273	Ankyrin repeat-containing domain (4);	0.052546	0.85682	D	0.000000	D	0.83991	0.5374	L	0.50847	1.595	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	D	0.84836	0.0805	10	0.87932	D	0	-6.0222	14.565	0.68168	0.1469:0.8531:0.0:0.0	.	173;173	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	173	ENSP00000284629:A173T	ENSP00000284629:A173T	A	-	1	0	ASZ1	116813023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.106000	0.57804	2.804000	0.96469	0.650000	0.86243	GCA		0.393	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
PLXNA4	91584	broad.mit.edu	37	7	131878889	131878889	+	Missense_Mutation	SNP	C	C	T	rs141839043		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:131878889C>T	ENST00000359827.3	-	14	3750	c.2788G>A	c.(2788-2790)Gtg>Atg	p.V930M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V930M			Q9HCM2	PLXA4_HUMAN	plexin A4	930	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V930M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATCTCCACGAAGCCTGCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19018	0.001		0.0	False		,,,				2504	0.0				p.V930M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2788A	7						.						85.0	87.0	86.0					7																	131878889		2070	4205	6275	131529429	SO:0001583	missense	91584	exon14			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2788G>A	7.37:g.131878889C>T	ENSP00000352882:p.Val930Met		131529429	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.8	4.776141	0.90195	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78924	-1.22;-1.22	4.48	4.48	0.54585	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93464	0.6813	10	0.72032	D	0.01	.	17.3305	0.87262	0.0:1.0:0.0:0.0	.	930	Q9HCM2	PLXA4_HUMAN	M	930	ENSP00000323194:V930M;ENSP00000352882:V930M	ENSP00000323194:V930M	V	-	1	0	PLXNA4	131529429	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.806000	0.69150	2.317000	0.78254	0.484000	0.47621	GTG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CHST12	55501	broad.mit.edu	37	7	2472883	2472883	+	Silent	SNP	G	G	A	rs531272657		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:2472883G>A	ENST00000258711.6	+	2	744	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	203					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.P203P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGCGCATCCCGCGCGAGCACG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17290	0.001		0.0	False		,,,				2504	0.0				p.P203P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G609A	7						.						45.0	38.0	40.0					7																	2472883		2203	4297	6500	2439409	SO:0001819	synonymous_variant	55501	exon2			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.609G>A	7.37:g.2472883G>A			2439409	NM_018641	A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	CCDS5333.1																																																																																				0.657	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641	
COL28A1	340267	broad.mit.edu	37	7	7400110	7400110	+	Missense_Mutation	SNP	G	G	A	rs184264025		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:7400110G>A	ENST00000399429.3	-	34	3256	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1039					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T1039M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ATCAGCCCACGTTGGCTCTGG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		16456	0.001		0.0	False		,,,				2504	0.0				p.T1039M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3116T	7						.						90.0	105.0	100.0					7																	7400110		2030	4181	6211	7366635	SO:0001583	missense	340267	exon34			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3116C>T	7.37:g.7400110G>A	ENSP00000382356:p.Thr1039Met		7366635	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	11.41	1.631971	0.29068	.	.	ENSG00000215018	ENST00000399429	D	0.89552	-2.53	3.93	3.04	0.35103	.	0.758160	0.10717	U	0.642129	T	0.73040	0.3536	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	B	0.38296	0.27	T	0.67726	-0.5596	10	0.59425	D	0.04	.	7.3625	0.26754	0.1184:0.0:0.8816:0.0	.	1039	Q2UY09	COSA1_HUMAN	M	1039	ENSP00000382356:T1039M	ENSP00000382356:T1039M	T	-	2	0	COL28A1	7366635	0.003000	0.15002	0.005000	0.12908	0.072000	0.16883	0.195000	0.17155	1.225000	0.43566	0.655000	0.94253	ACG		0.493	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
CHN2	1124	broad.mit.edu	37	7	29552201	29552201	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:29552201C>G	ENST00000222792.6	+	13	1787	c.1257C>G	c.(1255-1257)gaC>gaG	p.D419E	CHN2_ENST00000539389.1_Missense_Mutation_p.D275E|CHN2_ENST00000424025.2_Missense_Mutation_p.D238E|CHN2_ENST00000410098.1_3'UTR|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000495789.2_Missense_Mutation_p.D432E|CHN2_ENST00000421775.2_Missense_Mutation_p.D225E|CHN2_ENST00000539406.1_Missense_Mutation_p.D494E|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000409041.4_Missense_Mutation_p.D283E|CHN2_ENST00000435288.2_Missense_Mutation_p.D143E|CHN2_ENST00000546235.1_Missense_Mutation_p.D404E|CHN2_ENST00000439711.2_Missense_Mutation_p.D237E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	419	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.D419E(2)|p.D283E(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ATGAAAAAGACAATTTCATGA	0.428																																					p.D283E	Ovarian(1;44 48 13232 18918 31480)											.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C849G	7						.						83.0	86.0	85.0					7																	29552201		2203	4300	6503	29518726	SO:0001583	missense	1124	exon7			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1257C>G	7.37:g.29552201C>G	ENSP00000222792:p.Asp419Glu		29518726	NM_001039936	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	3.179	-0.168227	0.06461	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.20332	2.29;2.29;2.08;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.41	1.14	0.20703	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.250957	0.45867	D	0.000331	T	0.05227	0.0139	N	0.01771	-0.73	0.41896	D	0.990391	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11235	0.0;0.0;0.002;0.004;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11329	0.0;0.001;0.004;0.006;0.0;0.006;0.0;0.001;0.001;0.001;0.0;0.003;0.001;0.003	T	0.38499	-0.9658	10	0.02654	T	1	.	5.6351	0.17532	0.0:0.3815:0.1983:0.4202	.	212;404;432;494;238;192;211;179;237;225;275;419;283;419	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	E	494;419;143;432;275;404;283;238;237;225	ENSP00000444063:D494E;ENSP00000222792:D419E;ENSP00000400282:D143E;ENSP00000438587:D432E;ENSP00000440526:D275E;ENSP00000442812:D404E;ENSP00000386849:D283E;ENSP00000406337:D238E;ENSP00000387425:D237E;ENSP00000394284:D225E	ENSP00000222792:D419E	D	+	3	2	CHN2	29518726	0.980000	0.34600	1.000000	0.80357	0.809000	0.45718	0.198000	0.17217	0.358000	0.24211	-0.808000	0.03180	GAC		0.428	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
ANLN	54443	broad.mit.edu	37	7	36460248	36460248	+	Silent	SNP	T	T	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:36460248T>C	ENST00000265748.2	+	12	2279	c.2058T>C	c.(2056-2058)cgT>cgC	p.R686R	ANLN_ENST00000396068.2_Silent_p.R649R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	686					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.R686R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAACAGAACGTCCATCAATAA	0.348																																					p.R686R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2058C	7						.						146.0	138.0	141.0					7																	36460248		2203	4300	6503	36426773	SO:0001819	synonymous_variant	54443	exon12			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2058T>C	7.37:g.36460248T>C			36426773	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343751	0.24339	.	.	ENSG00000011426	ENST00000446635	.	.	.	5.84	-5.44	0.02624	.	.	.	.	.	T	0.35393	0.0930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-14.0887	1.1178	0.01718	0.1929:0.3146:0.1911:0.3013	.	.	.	.	A	40	.	.	V	+	2	0	ANLN	36426773	0.081000	0.21417	0.974000	0.42286	0.984000	0.73092	-0.698000	0.05092	-0.511000	0.06514	-0.256000	0.11100	GTC		0.348	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
OGDH	4967	broad.mit.edu	37	7	44684931	44684931	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:44684931G>T	ENST00000222673.5	+	3	270	c.228G>T	c.(226-228)tgG>tgT	p.W76C	OGDH_ENST00000444676.1_Missense_Mutation_p.W76C|OGDH_ENST00000443864.2_Missense_Mutation_p.W76C|OGDH_ENST00000447398.1_Missense_Mutation_p.W76C|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.W16C|OGDH_ENST00000449767.1_Missense_Mutation_p.W76C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	76					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.W76C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TTTAGTCATGGGACATTTTTT	0.577																																					p.W76C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G228T	7						.						126.0	119.0	122.0					7																	44684931		2203	4300	6503	44651456	SO:0001583	missense	4967	exon3			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.228G>T	7.37:g.44684931G>T	ENSP00000222673:p.Trp76Cys		44651456	NM_001003941	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436584	0.83885	.	.	ENSG00000105953	ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.91717	3.235	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;1.0;1.0	T	0.79519	-0.1770	10	0.87932	D	0	-19.3376	19.4043	0.94642	0.0:0.0:1.0:0.0	.	76;76;76;76	E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;ODO1_HUMAN;.	C	76;76;76;76;76;76;16	ENSP00000388084:W76C;ENSP00000392878:W76C;ENSP00000388183:W76C;ENSP00000411830:W76C;ENSP00000414662:W76C;ENSP00000222673:W76C;ENSP00000443821:W16C	ENSP00000222673:W76C	W	+	3	0	OGDH	44651456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.668000	0.90789	0.563000	0.77884	TGG		0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
DTX2	113878	broad.mit.edu	37	7	76126737	76126737	+	Missense_Mutation	SNP	C	C	T	rs145964625		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:76126737C>T	ENST00000324432.5	+	7	1603	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	DTX2_ENST00000446600.1_Missense_Mutation_p.R274C|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000430490.2_Missense_Mutation_p.R365C|DTX2_ENST00000413936.2_Missense_Mutation_p.R365C|DTX2_ENST00000307569.8_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	365					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R365C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCCCGCCTCCCGTCTGGCTTC	0.557																																					p.R365C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1093T	7						.						34.0	34.0	34.0					7																	76126737		2199	4273	6472	75964673	SO:0001583	missense	113878	exon5				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1093C>T	7.37:g.76126737C>T	ENSP00000322885:p.Arg365Cys		75964673	NM_001102595	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.224425	0.39300	.	.	ENSG00000091073	ENST00000324432;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490	T;T;T;T	0.12147	2.72;2.71;2.72;2.72	5.41	-3.71	0.04424	.	1.247470	0.05079	N	0.483163	T	0.07188	0.0182	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.22243	-1.0222	10	0.42905	T	0.14	-0.0088	12.0171	0.53319	0.1235:0.6798:0.0:0.1966	.	274;274;365	F5GX89;E7ET89;Q86UW9	.;.;DTX2_HUMAN	C	365;274;274;365;365	ENSP00000322885:R365C;ENSP00000397648:R274C;ENSP00000390218:R365C;ENSP00000411986:R365C	ENSP00000322885:R365C	R	+	1	0	AC005522.1	75964673	0.878000	0.30173	0.971000	0.41717	0.991000	0.79684	-0.087000	0.11215	-0.633000	0.05545	-0.302000	0.09304	CGT		0.557	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
WEE2	494551	broad.mit.edu	37	7	141424003	141424003	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr7:141424003C>T	ENST00000397541.2	+	8	1555	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.H383H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACCTGGGCCACGCAACATCAA	0.348																																					p.H383H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1149T	7						.						88.0	84.0	85.0					7																	141424003		1831	4081	5912	141070472	SO:0001819	synonymous_variant	494551	exon8			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1149C>T	7.37:g.141424003C>T			141070472	NM_001105558		Silent	SNP	ENST00000397541.2	37	CCDS43660.1																																																																																				0.348	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
DLGAP2	9228	broad.mit.edu	37	8	1626719	1626719	+	Silent	SNP	C	C	T	rs556653998		TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr8:1626719C>T	ENST00000421627.2	+	9	2522	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	875					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.H804H(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCTGCTGCACGCAGAGACAA	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15684	0.0		0.0	False		,,,				2504	0.0				p.H796H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2388T	8						.						22.0	24.0	23.0					8																	1626719		1971	4176	6147	1614126	SO:0001819	synonymous_variant	9228	exon9			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2388C>T	8.37:g.1626719C>T			1614126	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.258	-1.001426	0.02128	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.32	4.44	0.53790	.	.	.	.	.	T	0.58991	0.2161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56420	-0.7982	4	.	.	.	-13.8788	8.4854	0.33067	0.0:0.7122:0.0:0.2878	.	.	.	.	M	799	.	.	T	+	2	0	DLGAP2	1614126	1.000000	0.71417	0.559000	0.28332	0.028000	0.11728	0.928000	0.28831	1.236000	0.43740	0.650000	0.86243	ACG		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
ARHGEF10	9639	broad.mit.edu	37	8	1833837	1833837	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr8:1833837C>T	ENST00000398564.1	+	11	1221	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	ARHGEF10_ENST00000262112.6_Silent_p.I407I|ARHGEF10_ENST00000520359.1_Silent_p.I344I|ARHGEF10_ENST00000349830.3_Silent_p.I382I|ARHGEF10_ENST00000518288.1_Silent_p.I407I|ARHGEF10_ENST00000398560.1_Silent_p.I368I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	407					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I407I(1)|p.I159I(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGGAAGCCATCTTGACCCCGA	0.438																																					p.I382I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1146T	8						.						81.0	78.0	79.0					8																	1833837		2203	4300	6503	1821244	SO:0001819	synonymous_variant	9639	exon11			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1221C>T	8.37:g.1833837C>T			1821244	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																					0.438	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
GGH	8836	broad.mit.edu	37	8	63927965	63927965	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr8:63927965C>G	ENST00000260118.6	-	9	1285	c.883G>C	c.(883-885)Gca>Cca	p.A295P	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	295	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)	p.A295P(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TAAATCAATGCTTTCTCCTCT	0.289																																					p.A295P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883C	8						.						75.0	75.0	75.0					8																	63927965		2198	4293	6491	64090519	SO:0001583	missense	8836	exon9			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.883G>C	8.37:g.63927965C>G	ENSP00000260118:p.Ala295Pro		64090519	NM_003878		Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909001	0.33721	.	.	ENSG00000137563	ENST00000260118	T	0.44083	0.93	5.74	2.72	0.32119	.	0.250811	0.46145	D	0.000306	T	0.58352	0.2116	M	0.84585	2.705	0.09310	N	1	D	0.59767	0.986	P	0.53861	0.736	T	0.56962	-0.7892	10	0.36615	T	0.2	-32.7596	14.0398	0.64667	0.4809:0.5191:0.0:0.0	.	295	Q92820	GGH_HUMAN	P	295	ENSP00000260118:A295P	ENSP00000260118:A295P	A	-	1	0	GGH	64090519	0.225000	0.23685	0.017000	0.16124	0.249000	0.25844	1.202000	0.32271	0.218000	0.20820	-0.158000	0.13435	GCA		0.289	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1		
CRISPLD1	83690	broad.mit.edu	37	8	75929156	75929156	+	Silent	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr8:75929156C>T	ENST00000262207.4	+	8	1377	c.909C>T	c.(907-909)tgC>tgT	p.C303C	CRISPLD1_ENST00000523524.1_Silent_p.C115C|CRISPLD1_ENST00000517786.1_Silent_p.C117C	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	303	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.C303C(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GAGATCAGTGCAAAGGAACAA	0.234																																					p.C303C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909T	8						.						31.0	30.0	30.0					8																	75929156		2138	4233	6371	76091711	SO:0001819	synonymous_variant	83690	exon8			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.909C>T	8.37:g.75929156C>T			76091711	NM_031461	B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	CCDS6219.1																																																																																				0.234	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	
SLC26A7	115111	broad.mit.edu	37	8	92307815	92307815	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr8:92307815C>G	ENST00000276609.3	+	4	600	c.361C>G	c.(361-363)Cag>Gag	p.Q121E	SLC26A7_ENST00000523719.1_Missense_Mutation_p.Q121E|SLC26A7_ENST00000309536.2_Missense_Mutation_p.Q121E	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.Q121E(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GATTGTCCCTCAGAACATGCA	0.463																																					p.Q121E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361G	8						.						160.0	133.0	142.0					8																	92307815		2203	4300	6503	92376991	SO:0001583	missense	115111	exon4			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.361C>G	8.37:g.92307815C>G	ENSP00000276609:p.Gln121Glu		92376991	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	1.070	-0.670182	0.03403	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.91894	-2.7;-2.93;-2.93;-2.92	5.48	4.54	0.55810	.	0.598219	0.15429	N	0.262839	D	0.82379	0.5024	N	0.12182	0.205	0.19300	N	0.999971	B;B	0.18741	0.03;0.017	B;B	0.18561	0.022;0.01	T	0.67277	-0.5711	10	0.16420	T	0.52	.	9.3963	0.38404	0.0:0.8131:0.0:0.1869	.	121;121	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	E	121	ENSP00000428881:Q121E;ENSP00000428849:Q121E;ENSP00000276609:Q121E;ENSP00000309504:Q121E	ENSP00000276609:Q121E	Q	+	1	0	SLC26A7	92376991	0.088000	0.21588	0.849000	0.33467	0.766000	0.43426	0.461000	0.21940	1.181000	0.42912	0.563000	0.77884	CAG		0.463	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
RAD54B	25788	broad.mit.edu	37	8	95419784	95419784	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr8:95419784G>C	ENST00000336148.5	-	5	788	c.664C>G	c.(664-666)Cag>Gag	p.Q222E		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	222					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.Q222E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTGGCAACCTGAGAAGAATGC	0.408								Direct reversal of damage;Homologous recombination																													p.Q222E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664G	8						.						109.0	107.0	108.0					8																	95419784		2203	4300	6503	95488960	SO:0001583	missense	25788	exon5			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.664C>G	8.37:g.95419784G>C	ENSP00000336606:p.Gln222Glu		95488960	NM_012415	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	4.269	0.049011	0.08243	.	.	ENSG00000197275	ENST00000336148	D	0.88124	-2.34	6.16	6.16	0.99307	.	0.316589	0.36628	N	0.002482	D	0.82866	0.5130	L	0.55990	1.75	0.80722	D	1	B	0.31026	0.304	B	0.22386	0.039	T	0.78996	-0.1983	10	0.02654	T	1	-18.5133	20.8598	0.99761	0.0:0.0:1.0:0.0	.	222	Q9Y620	RA54B_HUMAN	E	222	ENSP00000336606:Q222E	ENSP00000336606:Q222E	Q	-	1	0	RAD54B	95488960	1.000000	0.71417	0.929000	0.37066	0.250000	0.25880	3.919000	0.56439	2.937000	0.99478	0.650000	0.86243	CAG		0.408	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
OR1L4	254973	broad.mit.edu	37	9	125486298	125486298	+	Silent	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr9:125486298C>A	ENST00000259466.1	+	1	30	c.30C>A	c.(28-30)acC>acA	p.T10T		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T10T(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCAGCAGCACCTCAGGCTTCA	0.493																																					p.T10T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30A	9						.						177.0	170.0	173.0					9																	125486298		2203	4300	6503	124526119	SO:0001819	synonymous_variant	254973	exon1				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.30C>A	9.37:g.125486298C>A			124526119	NM_001005235	Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	CCDS35129.1																																																																																				0.493	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1		
RANBP6	26953	broad.mit.edu	37	9	6015355	6015356	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr9:6015355_6015356CC>GT	ENST00000259569.5	-	1	262_263	c.252_253GG>AC	c.(250-255)gaGGtt>gaACtt	p.V85L	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	85					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E84>?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTGGATAAACCTCCTCAAACC	0.45																																					.												.	.	1	Complex(1)	large_intestine(1)	c.252_253AC	9						.																																			6005356	SO:0001583	missense	26953	exon1			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.252_253delinsGT	9.37:g.6015355_6015356delinsGT	ENSP00000259569:p.Val85Leu		6005355	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	DNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.450	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
IFNA21	3452	broad.mit.edu	37	9	21166548	21166548	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr9:21166548G>T	ENST00000380225.1	-	1	111	c.64C>A	c.(64-66)Ctg>Atg	p.L22M		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	22					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)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.L22M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCACAGCCCAGAGAACAGATG	0.512																																					p.L22M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C64A	9						.						57.0	59.0	58.0					9																	21166548		2202	4280	6482	21156548	SO:0001583	missense	3452	exon1				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.64C>A	9.37:g.21166548G>T	ENSP00000369574:p.Leu22Met		21156548	NM_002175	Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	16.39	3.110775	0.56398	.	.	ENSG00000137080	ENST00000380225	T	0.04156	3.69	4.02	3.09	0.35607	Four-helical cytokine-like, core (1);	0.000000	0.64402	D	0.000016	T	0.13329	0.0323	M	0.92604	3.325	0.25128	N	0.990592	P	0.47350	0.894	P	0.45310	0.476	T	0.13072	-1.0523	10	0.87932	D	0	.	7.8745	0.29586	0.1179:0.0:0.8821:0.0	.	22	P01568	IFN21_HUMAN	M	22	ENSP00000369574:L22M	ENSP00000369574:L22M	L	-	1	2	IFNA21	21156548	0.838000	0.29461	0.767000	0.31495	0.871000	0.50021	4.958000	0.63660	2.080000	0.62538	0.644000	0.83932	CTG		0.512	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175	
AGTPBP1	23287	broad.mit.edu	37	9	88162140	88162140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr9:88162140C>T	ENST00000357081.3	-	26	3709	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	AGTPBP1_ENST00000432218.1_Silent_p.V637V|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A1201T|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A1149T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1189					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A1149T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTACTTTCTGCACTGTAATCA	0.388																																					p.A1149T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3445A	9						.						155.0	140.0	145.0					9																	88162140		2203	4300	6503	87351960	SO:0001583	missense	23287	exon26			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3565G>A	9.37:g.88162140C>T	ENSP00000349592:p.Ala1189Thr		87351960	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.577545	0.86645	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.21932	2.03;2.02;1.98	5.89	5.89	0.94794	.	0.049644	0.85682	D	0.000000	T	0.24353	0.0590	L	0.32530	0.975	0.80722	D	1	B;D;P	0.53151	0.42;0.958;0.949	B;P;P	0.46917	0.143;0.531;0.496	T	0.00589	-1.1656	10	0.23891	T	0.37	-24.3728	20.2566	0.98424	0.0:1.0:0.0:0.0	.	1201;1189;1149	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	T	1189;1149;1201	ENSP00000349592:A1189T;ENSP00000365251:A1149T;ENSP00000365277:A1201T	ENSP00000349592:A1189T	A	-	1	0	AGTPBP1	87351960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	2.793000	0.96121	0.561000	0.74099	GCA		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
ZCCHC6	79670	broad.mit.edu	37	9	88960699	88960699	+	Splice_Site	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr9:88960699C>T	ENST00000375963.3	-	4	876	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	ZCCHC6_ENST00000375947.1_Splice_Site_p.R68Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Splice_Site_p.R235Q|ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000375960.2_Splice_Site_p.R235Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	235					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R235Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTTTCGTGGTCGCTATAATTT	0.363																																					p.R235Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G704A	9						.						120.0	118.0	118.0					9																	88960699		2203	4300	6503	88150519	SO:0001630	splice_region_variant	79670	exon4			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.703-1G>A	9.37:g.88960699C>T			88150519	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684521	0.47991	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.34	2.51	0.30379	.	0.646670	0.14877	N	0.293194	T	0.22360	0.0539	L	0.33485	1.01	0.31005	N	0.7199	B;P;B;B	0.35628	0.077;0.513;0.313;0.034	B;B;B;B	0.20577	0.013;0.03;0.03;0.013	T	0.14952	-1.0454	10	0.54805	T	0.06	2.3792	9.1826	0.37152	0.0:0.6885:0.0:0.3115	.	235;235;235;235	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	Q	235;235;235;68;68	ENSP00000365127:R235Q;ENSP00000365128:R235Q;ENSP00000365130:R235Q;ENSP00000365114:R68Q	ENSP00000365114:R68Q	R	-	2	0	ZCCHC6	88150519	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	1.216000	0.32443	0.642000	0.30620	0.467000	0.42956	CGA		0.363	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	Missense_Mutation
CAMSAP1	157922	broad.mit.edu	37	9	138712922	138712922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chr9:138712922C>A	ENST00000389532.4	-	11	3649	c.3585G>T	c.(3583-3585)atG>atT	p.M1195I	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.M1206I|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.M917I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1195					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTTGAGGCTCATCTGCTCCG	0.527																																					p.M1195I												.	.	0			c.G3585T	9						.						131.0	124.0	126.0					9																	138712922		2203	4300	6503	137852743	SO:0001583	missense	157922	exon11			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3585G>T	9.37:g.138712922C>A	ENSP00000374183:p.Met1195Ile		137852743	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887575	0.17540	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.13307	2.6;2.6;2.6	4.89	2.93	0.34026	.	1.239890	0.05064	N	0.480313	T	0.15609	0.0376	L	0.45137	1.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.34104	-0.9842	10	0.87932	D	0	.	8.7122	0.34391	0.0:0.7976:0.0:0.2024	.	1195;1206	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	I	1195;917;1206	ENSP00000374183:M1195I;ENSP00000312463:M917I;ENSP00000386420:M1206I	ENSP00000312463:M917I	M	-	3	0	CAMSAP1	137852743	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	1.076000	0.30729	0.506000	0.28125	-0.345000	0.07892	ATG		0.527	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
MSL3	10943	broad.mit.edu	37	X	11793182	11793182	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chrX:11793182C>T	ENST00000312196.4	+	13	1655	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	MSL3_ENST00000380693.3_Missense_Mutation_p.P351L|MSL3_ENST00000361672.2_Missense_Mutation_p.P368L|MSL3_ENST00000398527.2_Missense_Mutation_p.P505L	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	517	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P517L(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACCAAGAACCCCCGGGCAATT	0.458																																					p.P351L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1052T	X						.						59.0	58.0	58.0					X																	11793182		2203	4300	6503	11703103	SO:0001583	missense	10943	exon12			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1550C>T	X.37:g.11793182C>T	ENSP00000312244:p.Pro517Leu		11703103	NM_006800	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738797	0.89573	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T	0.29142	2.35;1.58;1.92;1.64	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.998;0.996	T	0.63620	-0.6596	10	0.87932	D	0	.	17.7149	0.88333	0.0:1.0:0.0:0.0	.	505;368;458;517	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2	.;.;.;MS3L1_HUMAN	L	517;368;505;351	ENSP00000312244:P517L;ENSP00000354562:P368L;ENSP00000381538:P505L;ENSP00000370069:P351L	ENSP00000312244:P517L	P	+	2	0	MSL3	11703103	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.571000	0.67404	2.201000	0.70794	0.600000	0.82982	CCC		0.458	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	
CUL4B	8450	broad.mit.edu	37	X	119681025	119681025	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chrX:119681025C>G	ENST00000404115.3	-	5	1197	c.796G>C	c.(796-798)Gat>Cat	p.D266H	CUL4B_ENST00000371322.5_Missense_Mutation_p.D248H|snoU13_ENST00000605987.1_RNA|CUL4B_ENST00000336592.6_Missense_Mutation_p.D253H	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	266					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D266H(1)|p.D248H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGATGTGATCTTCGCAGATC	0.373																																					p.D248H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G742C	X						.						105.0	92.0	96.0					X																	119681025		2203	4300	6503	119565053	SO:0001583	missense	8450	exon3			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.796G>C	X.37:g.119681025C>G	ENSP00000384109:p.Asp266His		119565053	NM_001079872	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414303	0.83449	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	6.07	6.07	0.98685	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.182943	0.56097	D	0.000025	T	0.80003	0.4544	L	0.45470	1.425	0.80722	D	1	P;P	0.47409	0.895;0.872	P;P	0.55455	0.776;0.549	T	0.77005	-0.2748	9	.	.	.	-15.6091	18.371	0.90407	0.0:1.0:0.0:0.0	.	266;248	Q13620;Q13620-1	CUL4B_HUMAN;.	H	248;253;266;70	ENSP00000360373:D248H;ENSP00000338919:D253H;ENSP00000384109:D266H;ENSP00000360374:D70H	.	D	-	1	0	CUL4B	119565053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.565000	0.86533	0.600000	0.82982	GAT		0.373	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	
GRIA3	2892	broad.mit.edu	37	X	122532533	122532533	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chrX:122532533C>T	ENST00000371251.1	+	7	1011	c.959C>T	c.(958-960)gCt>gTt	p.A320V	GRIA3_ENST00000371256.5_Missense_Mutation_p.A320V|GRIA3_ENST00000542149.1_Missense_Mutation_p.A320V|GRIA3_ENST00000264357.5_Missense_Mutation_p.A320V|GRIA3_ENST00000541091.1_Missense_Mutation_p.A304V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	320					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.A320V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATAGCAGAAGCTTTCCGCTAC	0.453																																					p.A320V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C959T	X						.						109.0	86.0	93.0					X																	122532533		2203	4300	6503	122360214	SO:0001583	missense	2892	exon7			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.959C>T	X.37:g.122532533C>T	ENSP00000360297:p.Ala320Val		122360214	NM_007325	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001859	0.93227	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.959;0.988;0.979	T	0.73069	-0.4099	10	0.87932	D	0	.	18.0905	0.89474	0.0:1.0:0.0:0.0	.	304;320;320	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	V	320;320;320;320;304	ENSP00000264357:A320V;ENSP00000446146:A320V;ENSP00000360302:A320V;ENSP00000360297:A320V;ENSP00000446440:A304V	ENSP00000264357:A320V	A	+	2	0	GRIA3	122360214	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.494000	0.84150	0.600000	0.82982	GCT		0.453	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
ASMT	438	broad.mit.edu	37	X	1752173	1752174	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chrX:1752173_1752174CT>AG	ENST00000381229.4	+	6	729_730	c.693_694CT>AG	c.(691-696)gaCTtc>gaAGtc	p.231_232DF>EV	ASMT_ENST00000381233.3_Intron|ASMT_ENST00000381241.3_Missense_Mutation_p.259_260DF>EV|ASMT_ENST00000509780.1_Intron			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	231					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.D259>?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AACAGATTGACTTCCAGGAAGG	0.5																																					.												.	.	1	Complex(1)	large_intestine(1)	c.777_778AG	X						.																																			1712174	SO:0001583	missense	438	exon7			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	Exception_encountered	X.37:g.1752173_1752174delinsAG	ENSP00000370627:p.D231_F232delinsEV		1712173	NM_001171038	B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	DNP	ENST00000381229.4	37																																																																																					0.500	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043	
STS	412	broad.mit.edu	37	X	7194044	7194044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chrX:7194044G>A	ENST00000217961.4	+	6	1094	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	292					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.A292T(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CGTGCACACAGCCCTGTTCTC	0.468									Ichthyosis																												p.A292T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874A	X						.						107.0	73.0	84.0					X																	7194044		2203	4299	6502	7204044	SO:0001583	missense	412	exon6	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.874G>A	X.37:g.7194044G>A	ENSP00000217961:p.Ala292Thr		7204044	NM_000351	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399895	0.42613	.	.	ENSG00000101846	ENST00000217961	D	0.93488	-3.23	3.91	3.91	0.45181	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.113072	0.64402	D	0.000015	D	0.95245	0.8458	M	0.73372	2.23	0.30087	N	0.808651	D	0.67145	0.996	D	0.68943	0.961	D	0.91907	0.5536	10	0.87932	D	0	.	9.1847	0.37163	0.0:0.2183:0.7817:0.0	.	292	P08842	STS_HUMAN	T	292	ENSP00000217961:A292T	ENSP00000217961:A292T	A	+	1	0	STS	7204044	0.987000	0.35691	0.232000	0.24009	0.032000	0.12392	2.139000	0.42149	1.582000	0.49881	0.506000	0.49869	GCC		0.468	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351	
GPR112	139378	broad.mit.edu	37	X	135430093	135430093	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A02J-01A-01W-A00E-09	TCGA-AA-A02J-10A-01W-A00E-09	g.chrX:135430093G>A	ENST00000394143.1	+	6	4519	c.4228G>A	c.(4228-4230)Ggc>Agc	p.G1410S	GPR112_ENST00000287534.4_Missense_Mutation_p.G1347S|GPR112_ENST00000394141.1_Missense_Mutation_p.G1205S|GPR112_ENST00000370652.1_Missense_Mutation_p.G1410S|GPR112_ENST00000412101.1_Missense_Mutation_p.G1205S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1410					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1410S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTCTCATATGGCCAGGATAC	0.423																																					p.G1410S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4228A	X						.						151.0	142.0	145.0					X																	135430093		2203	4300	6503	135257759	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4228G>A	X.37:g.135430093G>A	ENSP00000377699:p.Gly1410Ser		135257759	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.511468	0.00153	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28454	1.64;1.64;1.61;1.75;1.61	2.71	-2.04	0.07343	.	.	.	.	.	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.31861	-0.9928	9	0.11794	T	0.64	.	0.834	0.01136	0.3888:0.2666:0.1979:0.1468	.	1347;1205;1410	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1410;1410;1205;1347;1205	ENSP00000377699:G1410S;ENSP00000359686:G1410S;ENSP00000416526:G1205S;ENSP00000287534:G1347S;ENSP00000377697:G1205S	ENSP00000287534:G1347S	G	+	1	0	GPR112	135257759	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.079000	0.00614	-0.369000	0.08028	-1.277000	0.01392	GGC		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
