#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACIN1	22985	hgsc.bcm.edu	37	14	23549881	23549881	+	Silent	SNP	C	C	T	rs3841035|rs57580458	byFrequency	TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr14:23549881C>T	ENST00000262710.1	-	6	1164	c.837G>A	c.(835-837)gaG>gaA	p.E279E	ACIN1_ENST00000605057.1_Silent_p.E221E|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Silent_p.E239E|ACIN1_ENST00000555053.1_Silent_p.E279E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	279	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		catcttcttcctcctcctcct	0.458																																																	0													131.0	127.0	128.0					14																	23549881		2203	4300	6503	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.837G>A	14.37:g.23549881C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																				0.458	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977	
ACIN1	22985	hgsc.bcm.edu	37	14	23549896	23549896	+	Silent	SNP	C	C	T	rs398102304		TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr14:23549896C>T	ENST00000262710.1	-	6	1149	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ACIN1_ENST00000605057.1_Silent_p.E216E|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Silent_p.E234E|ACIN1_ENST00000555053.1_Silent_p.E274E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	274	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		cctcctcctcctcttcttcct	0.473																																																	0													126.0	121.0	123.0					14																	23549896		2203	4300	6503	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.822G>A	14.37:g.23549896C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																				0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977	
ALPI	248	broad.mit.edu;ucsc.edu	37	2	233322764	233322764	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:233322764C>A	ENST00000295463.3	+	8	990	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	305					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.P305T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACACTGGACCCCTCCCTGAT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											82.0	89.0	87.0					2																	233322764		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.913C>A	2.37:g.233322764C>A	ENSP00000295463:p.Pro305Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828650	0.71258	.	.	ENSG00000163295	ENST00000295463	D	0.99474	-5.97	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98218	4.175	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96969	0.9707	10	0.87932	D	0	.	16.2794	0.82664	0.0:1.0:0.0:0.0	.	305	P09923	PPBI_HUMAN	T	305	ENSP00000295463:P305T	ENSP00000295463:P305T	P	+	1	0	ALPI	233031008	1.000000	0.71417	0.990000	0.47175	0.578000	0.36192	7.299000	0.78831	2.318000	0.78349	0.561000	0.74099	CCC		0.632	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2		NM_001631	
ANKRD26	22852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27324608	27324608	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:27324608A>C	ENST00000376087.4	-	24	2936	c.2771T>G	c.(2770-2772)cTa>cGa	p.L924R	ANKRD26_ENST00000376070.3_Missense_Mutation_p.L481R|ANKRD26_ENST00000436985.2_Missense_Mutation_p.L940R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	923					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.L924R(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCTAGTCTTAGCATAGCAAT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											57.0	47.0	50.0					10																	27324608		1811	4078	5889	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2771T>G	10.37:g.27324608A>C	ENSP00000365255:p.Leu924Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120229	0.56613	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.21932	1.98;1.98;1.98	5.64	4.49	0.54785	.	0.000000	0.43416	D	0.000565	T	0.48132	0.1483	M	0.84846	2.72	0.18873	N	0.999989	D;D;D	0.89917	1.0;0.999;0.966	D;D;P	0.72338	0.977;0.95;0.452	T	0.47156	-0.9139	10	0.87932	D	0	.	11.0529	0.47901	0.8439:0.1561:0.0:0.0	.	924;923;940	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	R	481;924;940	ENSP00000365238:L481R;ENSP00000365255:L924R;ENSP00000405112:L940R	ENSP00000365238:L481R	L	-	2	0	ANKRD26	27364614	0.919000	0.31177	0.043000	0.18650	0.980000	0.70556	5.934000	0.70138	0.956000	0.37904	0.482000	0.46254	CTA		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			
BOD1L1	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13610222	13610222	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:13610222T>A	ENST00000040738.5	-	8	1809	c.1674A>T	c.(1672-1674)gaA>gaT	p.E558D		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	558	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E558D(1)									CTTTAAGGACTTCTTTAATTC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											53.0	51.0	52.0					4																	13610222		2202	4296	6498	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1674A>T	4.37:g.13610222T>A	ENSP00000040738:p.Glu558Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881729	0.72294	.	.	ENSG00000038219	ENST00000040738	T	0.09073	3.02	5.35	4.18	0.49190	.	0.000000	0.45126	D	0.000396	T	0.07413	0.0187	M	0.62723	1.935	0.25045	N	0.991171	B	0.32467	0.372	B	0.25614	0.062	T	0.32693	-0.9897	10	0.17832	T	0.49	-7.983	4.9327	0.13925	0.2059:0.0879:0.0:0.7062	.	558	Q8NFC6	BOD1L_HUMAN	D	558	ENSP00000040738:E558D	ENSP00000040738:E558D	E	-	3	2	BOD1L	13219320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.968000	0.40500	0.883000	0.36040	0.528000	0.53228	GAA		0.333	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894	
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93784687	93784687	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:93784687A>G	ENST00000265990.6	+	35	5346	c.5038A>G	c.(5038-5040)Agc>Ggc	p.S1680G	BTAF1_ENST00000544642.1_Missense_Mutation_p.S508G	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1680	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1680G(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAGATGGCAGCATACCTCC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											145.0	135.0	139.0					10																	93784687		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5038A>G	10.37:g.93784687A>G	ENSP00000265990:p.Ser1680Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323096	0.81580	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.74737	-0.87;-0.87	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	L	0.55834	1.745	0.80722	D	1	P	0.41131	0.739	P	0.48873	0.593	T	0.77378	-0.2610	10	0.41790	T	0.15	-10.9014	16.4892	0.84195	1.0:0.0:0.0:0.0	.	1680	O14981	BTAF1_HUMAN	G	1680;508;530	ENSP00000265990:S1680G;ENSP00000439924:S508G	ENSP00000265990:S1680G	S	+	1	0	BTAF1	93774667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.300000	0.96151	2.296000	0.77279	0.533000	0.62120	AGC		0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972	
NDUFAF5	79133	hgsc.bcm.edu	37	20	13769227	13769227	+	Intron	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr20:13769227T>C	ENST00000378106.5	+	3	382				NDUFAF5_ENST00000475968.1_Intron|NDUFAF5_ENST00000463598.1_Intron	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5						mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										CTGTGTCTTTTTTTTTAGAAA	0.313																																																	0													131.0	121.0	124.0					20																	13769227		2202	4300	6502	SO:0001627	intron_variant	0				CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.264-8T>C	20.37:g.13769227T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K166|Q6GPH3|Q9H6F4	RNA	SNP	ENST00000378106.5	37	CCDS13118.1																																																																																				0.313	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2		NM_001039375	
CD163L1	283316	broad.mit.edu;ucsc.edu	37	12	7527159	7527159	+	Silent	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr12:7527159C>T	ENST00000313599.3	-	13	3345	c.3288G>A	c.(3286-3288)ggG>ggA	p.G1096G	CD163L1_ENST00000416109.2_Silent_p.G1106G|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Silent_p.G1096G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1096	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G1096G(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAGATGGGCCCTGACCCCT	0.632											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											88.0	80.0	83.0					12																	7527159		2203	4300	6503	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3288G>A	12.37:g.7527159C>T		Somatic	642	WXS	Illumina GAIIx	Phase_I	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.632	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1		NM_174941	
CYLC1	1538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83128364	83128364	+	Silent	SNP	A	A	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chrX:83128364A>G	ENST00000329312.4	+	4	685	c.648A>G	c.(646-648)acA>acG	p.T216T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	216					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T215T(1)|p.T216T(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCCTACATACAAAGAACAATC	0.313																																																	2	Substitution - coding silent(2)	kidney(2)											25.0	24.0	25.0					X																	83128364		2194	4277	6471	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.648A>G	X.37:g.83128364A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																				0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1		NM_021118	
DNHD1	144132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6592961	6592961	+	Silent	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:6592961C>T	ENST00000527990.2	+	41	14007	c.14007C>T	c.(14005-14007)gcC>gcT	p.A4669A	DNHD1_ENST00000254579.6_Silent_p.A4669A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4669					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.A4669A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAGCTGGAGCCTTGCAGGACA	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	51.0	47.0					11																	6592961		2127	4236	6363	SO:0001819	synonymous_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14007C>T	11.37:g.6592961C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																				0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666	
DQX1	165545	broad.mit.edu;ucsc.edu	37	2	74746760	74746760	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:74746760A>C	ENST00000404568.3	-	10	1948	c.1729T>G	c.(1729-1731)Ttg>Gtg	p.L577V	DQX1_ENST00000393951.2_Missense_Mutation_p.L577V	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	577						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.L459V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGTAGGGACAAGGGAAGTTCA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											147.0	142.0	144.0					2																	74746760		2203	4300	6503	SO:0001583	missense	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1729T>G	2.37:g.74746760A>C	ENSP00000384621:p.Leu577Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	A	4.037	0.004525	0.07866	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02863	4.13;4.13	5.69	-3.27	0.05048	Domain of unknown function DUF1605 (1);	0.110918	0.38111	N	0.001815	T	0.01287	0.0042	N	0.10707	0.03	0.22745	N	0.998782	B	0.14805	0.011	B	0.23574	0.047	T	0.48043	-0.9069	10	0.15066	T	0.55	-16.6152	6.0856	0.19964	0.298:0.2921:0.41:0.0	.	577	Q8TE96	DQX1_HUMAN	V	577	ENSP00000377523:L577V;ENSP00000384621:L577V	ENSP00000377523:L577V	L	-	1	2	DQX1	74600268	0.001000	0.12720	0.976000	0.42696	0.987000	0.75469	-0.083000	0.11286	-0.167000	0.10871	-0.290000	0.09829	TTG		0.522	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637	
FAM160B2	64760	broad.mit.edu;ucsc.edu	37	8	21951993	21951994	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr8:21951993_21951994delTG	ENST00000289921.7	+	2	134_135	c.88_89delTG	c.(88-90)tggfs	p.W30fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	30										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGTGGAGCACTGGAAGGGCATC	0.668																																																	0																																										SO:0001589	frameshift_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.88_89delTG	8.37:g.21951993_21951994delTG	ENSP00000289921:p.Trp30fs	Somatic		WXS	Illumina GAIIx	Phase_I	B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Frame_Shift_Del	DEL	ENST00000289921.7	37	CCDS6021.2																																																																																				0.668	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127700355	127700355	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:127700355C>A	ENST00000508053.1	-	24	3340	c.2366G>T	c.(2365-2367)gGt>gTt	p.G789V	FBN2_ENST00000508989.1_Missense_Mutation_p.G756V|FBN2_ENST00000262464.4_Missense_Mutation_p.G789V|FBN2_ENST00000511489.1_5'Flank			P35556	FBN2_HUMAN	fibrillin 2	789	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G789V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGGTAACTACCACGTAAGTT	0.338																																																	2	Substitution - Missense(2)	kidney(2)											95.0	89.0	91.0					5																	127700355		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2366G>T	5.37:g.127700355C>A	ENSP00000424571:p.Gly789Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720084	0.89205	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.43	4.43	0.53597	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.99796	0.9913	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.87578	0.998;0.935	D	0.96801	0.9589	10	0.87932	D	0	.	18.3499	0.90335	0.0:1.0:0.0:0.0	.	756;789	D6RJI3;P35556	.;FBN2_HUMAN	V	789;789;756	ENSP00000262464:G789V;ENSP00000424571:G789V;ENSP00000425596:G756V	ENSP00000262464:G789V	G	-	2	0	FBN2	127728254	0.998000	0.40836	0.995000	0.50966	0.976000	0.68499	7.609000	0.82925	2.756000	0.94617	0.655000	0.94253	GGT		0.338	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150948482	150948482	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:150948482G>A	ENST00000261800.5	-	1	23	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCAGCAGGGCAATAGTCAT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											64.0	67.0	66.0					5																	150948482		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11C>T	5.37:g.150948482G>A	ENSP00000261800:p.Ala4Val	Somatic		WXS	Illumina HiSeq	Phase_I	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	1.585	-0.530651	0.04112	.	.	ENSG00000086570	ENST00000261800	T	0.70282	-0.47	5.46	3.31	0.37934	.	0.804157	0.11318	N	0.576313	T	0.47710	0.1460	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27502	-1.0072	10	0.09084	T	0.74	.	8.4325	0.32766	0.3312:0.0:0.6688:0.0	.	4	Q9NYQ8	FAT2_HUMAN	V	4	ENSP00000261800:A4V	ENSP00000261800:A4V	A	-	2	0	FAT2	150928675	0.065000	0.20965	0.980000	0.43619	0.880000	0.50808	-0.001000	0.12947	1.274000	0.44362	0.561000	0.74099	GCC		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447	
FKBPL	63943	broad.mit.edu;ucsc.edu	37	6	32097100	32097100	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:32097100T>C	ENST00000375156.3	-	2	728	c.458A>G	c.(457-459)gAg>gGg	p.E153G	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	153					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E153G(1)									CCAAGTTTCCTCCCTCCATGG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											195.0	209.0	204.0					6																	32097100		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.458A>G	6.37:g.32097100T>C	ENSP00000364298:p.Glu153Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.546444	0.45383	.	.	ENSG00000204315	ENST00000375156	D	0.81739	-1.53	5.23	5.23	0.72850	.	0.521070	0.18963	N	0.126342	T	0.57475	0.2056	N	0.24115	0.695	0.33773	D	0.62327	B	0.27498	0.18	B	0.25405	0.06	T	0.63492	-0.6625	10	0.62326	D	0.03	-10.9275	13.1165	0.59303	0.0:0.0:0.0:1.0	.	153	Q9UIM3	FKBPL_HUMAN	G	153	ENSP00000364298:E153G	ENSP00000364298:E153G	E	-	2	0	FKBPL	32205078	0.950000	0.32346	0.920000	0.36463	0.945000	0.59286	1.784000	0.38674	2.202000	0.70862	0.379000	0.24179	GAG		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			
FKTN	2218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	108363427	108363427	+	Splice_Site	SNP	G	G	A	rs146951171	byFrequency	TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr9:108363427G>A	ENST00000223528.2	+	4	291	c.167G>A	c.(166-168)cGt>cAt	p.R56H	FKTN_ENST00000602661.1_Splice_Site_p.R56H|FKTN_ENST00000357998.5_Splice_Site_p.R56H|FKTN_ENST00000540160.1_Splice_Site_p.R56H|FKTN_ENST00000448551.2_Splice_Site_p.R56H	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	56			R -> C (in dbSNP:rs41277797).		muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.R56H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CTCAAACAGCGTGCAGTTAAA	0.289													g|||	12	0.00239617	0.0091	0.0	5008	,	,		17992	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						A	HIS/ARG,HIS/ARG,HIS/ARG	27,4373	33.5+/-64.1	0,27,2173	46.0	47.0	47.0		167,167,167	4.8	1.0	9	dbSNP_134	47	0,8592		0,0,4296	yes	missense-near-splice,missense-near-splice,missense-near-splice	FKTN	NM_001079802.1,NM_001198963.1,NM_006731.2	29,29,29	0,27,6469	AA,AG,GG		0.0,0.6136,0.2078	benign,benign,benign	56/462,56/431,56/462	108363427	27,12965	2200	4296	6496	SO:0001630	splice_region_variant	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.166-1G>A	9.37:g.108363427G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	12.95	2.091871	0.36952	0.006136	0.0	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998;ENST00000374705	D;D;D;D;D	0.90900	-2.42;-2.75;-1.56;-2.75;-1.55	5.65	4.76	0.60689	.	0.219502	0.47455	N	0.000231	T	0.76948	0.4059	L	0.27053	0.805	0.40629	D	0.98183	B;B;B	0.30211	0.273;0.014;0.006	B;B;B	0.22880	0.042;0.002;0.002	T	0.75766	-0.3202	10	0.22706	T	0.39	-11.9669	10.2882	0.43579	0.1658:0.0:0.8342:0.0	.	56;56;56	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	H	56;56;56;56;33	ENSP00000223528:R56H;ENSP00000399140:R56H;ENSP00000439423:R56H;ENSP00000350687:R56H;ENSP00000363837:R33H	ENSP00000223528:R56H	R	+	2	0	FKTN	107403248	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.259000	0.43259	1.410000	0.46936	-0.349000	0.07799	CGT		0.289	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1		NM_006731	Missense_Mutation
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78425928	78425928	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:78425928G>C	ENST00000370768.2	-	16	1598	c.1517C>G	c.(1516-1518)gCt>gGt	p.A506G	FUBP1_ENST00000436586.2_Missense_Mutation_p.A527G|FUBP1_ENST00000370767.1_Missense_Mutation_p.A506G	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	506	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.A506G(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCCTGGGGAGCATATGGGGC	0.433			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	1	Substitution - Missense(1)	kidney(1)											50.0	54.0	52.0					1																	78425928		2203	4300	6503	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1517C>G	1.37:g.78425928G>C	ENSP00000359804:p.Ala506Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638188	0.47153	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.32753	1.44;1.44;1.46	5.6	5.6	0.85130	.	0.179148	0.50627	D	0.000117	T	0.15478	0.0373	L	0.40543	1.245	0.40950	D	0.984539	B;B	0.19817	0.039;0.039	B;B	0.17098	0.017;0.01	T	0.06991	-1.0796	10	0.16420	T	0.52	-18.9362	19.6187	0.95647	0.0:0.0:1.0:0.0	.	527;506	B4DT31;Q96AE4	.;FUBP1_HUMAN	G	505;506;506;491;527	ENSP00000359803:A506G;ENSP00000359804:A506G;ENSP00000389536:A527G	ENSP00000294623:A505G	A	-	2	0	FUBP1	78198516	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.046000	0.76592	2.627000	0.88993	0.650000	0.86243	GCT		0.433	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3		NM_003902	
HOXA2	3199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	27140542	27140542	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr7:27140542C>T	ENST00000222718.5	-	2	1244	c.934G>A	c.(934-936)Gac>Aac	p.D312N	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	312					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D312N(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TCAGGACTGTCATTGTTTAGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											89.0	87.0	87.0					7																	27140542		2203	4300	6503	SO:0001583	missense	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.934G>A	7.37:g.27140542C>T	ENSP00000222718:p.Asp312Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334481	0.24253	.	.	ENSG00000105996	ENST00000222718	T	0.09723	2.95	4.89	4.89	0.63831	.	0.095718	0.64402	D	0.000001	T	0.10165	0.0249	L	0.34521	1.04	0.47819	D	0.999528	B	0.09022	0.002	B	0.09377	0.004	T	0.17930	-1.0353	10	0.16420	T	0.52	.	18.0474	0.89337	0.0:1.0:0.0:0.0	.	312	O43364	HXA2_HUMAN	N	312	ENSP00000222718:D312N	ENSP00000222718:D312N	D	-	1	0	HOXA2	27107067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.491000	0.66887	2.415000	0.81967	0.655000	0.94253	GAC		0.498	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53239736	53239736	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chrX:53239736C>A	ENST00000375401.3	-	12	2138	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	KDM5C_ENST00000404049.3_Missense_Mutation_p.G535W|KDM5C_ENST00000465402.1_5'Flank|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000452825.3_Missense_Mutation_p.G469W|KDM5C_ENST00000375383.3_Missense_Mutation_p.G495W|KDM5C_ENST00000375379.3_Missense_Mutation_p.G536W	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	536	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.G536W(1)|p.G469W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAGGGCACCCCATACCAGGTC	0.517			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											128.0	115.0	119.0					X																	53239736		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1606G>T	X.37:g.53239736C>A	ENSP00000364550:p.Gly536Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587682	0.66105	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.41	5.41	0.78517	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92028	0.5631	10	0.87932	D	0	-25.7564	15.4841	0.75551	0.0:1.0:0.0:0.0	.	469;535;536	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	W	469;536;535;536;495	ENSP00000445176:G469W;ENSP00000364550:G536W;ENSP00000385394:G535W;ENSP00000364528:G536W;ENSP00000364532:G495W	ENSP00000364528:G536W	G	-	1	0	KDM5C	53256461	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.818000	0.86416	2.248000	0.74166	0.600000	0.82982	GGG		0.517	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KLB	152831	broad.mit.edu;hgsc.bcm.edu	37	4	39436298	39436298	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:39436298G>T	ENST00000257408.4	+	2	1391	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	432	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.A432S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGACACCACGGCCATCTACAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											60.0	60.0	60.0					4																	39436298		2203	4300	6503	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1294G>T	4.37:g.39436298G>T	ENSP00000257408:p.Ala432Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076910	0.36662	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	6.06	6.06	0.98353	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159988	0.56097	D	0.000034	T	0.23886	0.0578	L	0.36672	1.1	0.33597	D	0.601819	P;P	0.39809	0.689;0.689	B;B	0.37091	0.241;0.241	T	0.33471	-0.9867	10	0.36615	T	0.2	-16.2588	10.8732	0.46896	0.1388:0.0:0.8612:0.0	.	432;432	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	432	ENSP00000257408:A432S	ENSP00000257408:A432S	A	+	1	0	KLB	39112693	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	4.575000	0.60908	2.871000	0.98454	0.655000	0.94253	GCC		0.393	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737	
LPHN2	23266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	82372717	82372717	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:82372717C>A	ENST00000370728.1	+	6	734	c.89C>A	c.(88-90)gCt>gAt	p.A30D	LPHN2_ENST00000271029.4_Missense_Mutation_p.A30D|LPHN2_ENST00000370713.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A30D|LPHN2_ENST00000370721.1_Missense_Mutation_p.A30D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A30D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A30D|LPHN2_ENST00000370725.1_Missense_Mutation_p.A30D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A30D|LPHN2_ENST00000319517.6_Missense_Mutation_p.A30D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A30D|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370715.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A30D			O95490	LPHN2_HUMAN	latrophilin 2	30					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A30D(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCAGAGCAGCTTTACCATTT	0.348																																																	2	Substitution - Missense(2)	kidney(2)											59.0	58.0	58.0					1																	82372717		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.89C>A	1.37:g.82372717C>A	ENSP00000359763:p.Ala30Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.904321	0.92035	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70282	-0.44;-0.47;-0.45;-0.38;-0.41;-0.37;-0.41;-0.43;-0.42;-0.41;-0.41;-0.37;-0.38;-0.45	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.994	D;D;D;D	0.81914	0.94;0.995;0.956;0.946	T	0.78658	-0.2118	10	0.87932	D	0	.	19.1389	0.93439	0.0:1.0:0.0:0.0	.	30;30;30;30	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	D	30	ENSP00000359756:A30D;ENSP00000359763:A30D;ENSP00000359765:A30D;ENSP00000359762:A30D;ENSP00000359760:A30D;ENSP00000359758:A30D;ENSP00000353006:A30D;ENSP00000359750:A30D;ENSP00000359748:A30D;ENSP00000322270:A30D;ENSP00000359752:A30D;ENSP00000378344:A30D;ENSP00000271029:A30D;ENSP00000337306:A30D	ENSP00000271029:A30D	A	+	2	0	LPHN2	82145305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.684000	0.84104	2.587000	0.87381	0.557000	0.71058	GCT		0.348	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302	
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113633959	113633959	+	Silent	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:113633959T>C	ENST00000361127.5	+	2	457	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	87					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L87L(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCATAATCGGTTGTCTAACTG	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	78.0	78.0					1																	113633959		2203	4300	6503	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.259T>C	1.37:g.113633959T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSN2	Silent	SNP	ENST00000361127.5	37	CCDS30808.1																																																																																				0.299	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813	
LTBP4	8425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41105107	41105107	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:41105107G>A	ENST00000308370.7	+	2	151	c.151G>A	c.(151-153)Gct>Act	p.A51T	LTBP4_ENST00000545697.1_De_novo_Start_InFrame|LTBP4_ENST00000204005.9_Silent_p.L7L|LTBP4_ENST00000396819.3_5'Flank|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	51					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.A51T(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTATAGCGTTGCTGTTTGTCG	0.572											OREG0025473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											39.0	41.0	40.0					19																	41105107		1963	4134	6097	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.151G>A	19.37:g.41105107G>A	ENSP00000311905:p.Ala51Thr	Somatic	898	WXS	Illumina HiSeq	Phase_I	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875342	0.33162	.	.	ENSG00000090006	ENST00000308370	T	0.80909	-1.43	3.5	2.43	0.29744	.	.	.	.	.	T	0.67429	0.2892	.	.	.	0.09310	N	0.999997	B	0.27498	0.18	B	0.19391	0.025	T	0.54476	-0.8288	8	0.33940	T	0.23	.	8.7961	0.34881	0.0:0.2324:0.7676:0.0	.	51	Q8N2S1	LTBP4_HUMAN	T	51	ENSP00000311905:A51T	ENSP00000311905:A51T	A	+	1	0	LTBP4	45796947	0.000000	0.05858	0.005000	0.12908	0.802000	0.45316	0.459000	0.21908	0.795000	0.33922	0.455000	0.32223	GCT		0.572	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573	
MACF1	23499	broad.mit.edu;ucsc.edu	37	1	39919424	39919425	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:39919424_39919425GC>AT	ENST00000372915.3	+	87	20572_20573	c.20485_20486GC>AT	c.(20485-20487)GCa>ATa	p.A6829I	MACF1_ENST00000564288.1_Missense_Mutation_p.A6930I|MACF1_ENST00000567887.1_Missense_Mutation_p.A6967I|MACF1_ENST00000317713.7_Missense_Mutation_p.A4871I|MACF1_ENST00000289893.4_Missense_Mutation_p.A5373I|MACF1_ENST00000361689.2_Missense_Mutation_p.A4871I|MACF1_ENST00000539005.1_Missense_Mutation_p.A4741I|MACF1_ENST00000545844.1_Missense_Mutation_p.A4871I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6829					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A4871T(1)|p.A4871V(1)|p.A5373T(1)|p.A5373V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGTTAACTCAGCAGTAGCCATG	0.446																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	Exception_encountered	1.37:g.39919424_39919425delinsAT	ENSP00000362006:p.Ala6829Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37																																																																																					0.446	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
MAP3K1	4214	hgsc.bcm.edu	37	5	56177851	56177851	+	Missense_Mutation	SNP	A	A	T	rs570353965|rs10552703|rs398064829|rs5868032|rs532800605	byFrequency	TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:56177851A>T	ENST00000399503.3	+	14	2824	c.2824A>T	c.(2824-2826)Aca>Tca	p.T942S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	942	Poly-Thr.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCTAGTTcaacaacaacaac	0.423																																																	0													38.0	31.0	33.0					5																	56177851		1872	4107	5979	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2824A>T	5.37:g.56177851A>T	ENSP00000382423:p.Thr942Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	A	4.249	0.045185	0.08196	.	.	ENSG00000095015	ENST00000399503	T	0.66280	-0.2	.	.	.	.	.	.	.	.	T	0.28366	0.0701	N	0.01705	-0.755	0.09310	N	0.999998	B	0.15141	0.012	B	0.01281	0.0	T	0.19877	-1.0292	7	0.19147	T	0.46	.	.	.	.	.	942	Q13233	M3K1_HUMAN	S	942	ENSP00000382423:T942S	ENSP00000382423:T942S	T	+	1	0	MAP3K1	56213608	0.130000	0.22417	0.931000	0.37212	0.933000	0.57130	-0.172000	0.09868	0.000000	0.14550	0.000000	0.15137	ACA		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066	
MAP3K14	9020	hgsc.bcm.edu;ucsc.edu	37	17	43368049	43368049	+	RNA	DEL	T	T	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:43368049delT	ENST00000344686.2	-	0	171							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTTGGGGAGTTCCTTCTGCT	0.587																																																	0													68.0	74.0	72.0					17																	43368049		1957	4134	6091			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43368049delT		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2D8|D3DX67|Q8IYN1	Frame_Shift_Del	DEL	ENST00000344686.2	37																																																																																					0.587	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript			NM_003954	
MTO1	25821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	74192199	74192199	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:74192199A>T	ENST00000370300.4	+	10	1658	c.1568A>T	c.(1567-1569)cAa>cTa	p.Q523L	MTO1_ENST00000415954.2_Missense_Mutation_p.Q538L|MTO1_ENST00000370305.1_Missense_Mutation_p.Q449L|MTO1_ENST00000498286.1_Missense_Mutation_p.Q498L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	523					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.Q523L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGTGTGTCCCAACAACGATAT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											87.0	88.0	88.0					6																	74192199		2203	4300	6503	SO:0001583	missense	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1568A>T	6.37:g.74192199A>T	ENSP00000359323:p.Gln523Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687162	0.48097	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.37	1.57	0.23409	.	0.572974	0.19931	N	0.102854	T	0.17916	0.0430	M	0.64404	1.975	0.23689	N	0.997109	P;P;B;B	0.36412	0.552;0.493;0.082;0.084	B;B;B;B	0.31614	0.133;0.109;0.133;0.063	T	0.07520	-1.0768	9	0.87932	D	0	-2.9502	7.6566	0.28379	0.6531:0.2764:0.0705:0.0	.	538;401;498;523	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	L	538;498;401;449;523;53	.	ENSP00000350506:Q401L	Q	+	2	0	MTO1	74248920	1.000000	0.71417	0.982000	0.44146	0.924000	0.55760	2.338000	0.43957	0.406000	0.25560	0.378000	0.23410	CAA		0.358	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2		NM_012123	
NDUFB6	4712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32571008	32571008	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr9:32571008C>A	ENST00000379847.3	-	2	324	c.223G>T	c.(223-225)Gta>Tta	p.V75L	NDUFB6_ENST00000350021.2_Missense_Mutation_p.V75L	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V75L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		GGTACAAGTACATGAGTGAAA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											52.0	52.0	52.0					9																	32571008		2203	4296	6499	SO:0001583	missense	4712			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.223G>T	9.37:g.32571008C>A	ENSP00000369176:p.Val75Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	C	0.783	-0.761689	0.02996	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.41	-1.24	0.09435	.	0.448463	0.24052	N	0.041993	T	0.22003	0.0530	L	0.33189	0.99	0.22266	N	0.999246	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.08994	-1.0695	9	0.20519	T	0.43	-24.0646	2.8638	0.05595	0.1146:0.4224:0.1035:0.3595	.	75;75	Q5VYT2;O95139	.;NDUB6_HUMAN	L	75	.	ENSP00000297983:V75L	V	-	1	0	NDUFB6	32561008	0.606000	0.26949	0.845000	0.33349	0.001000	0.01503	-0.105000	0.10907	-0.066000	0.12998	-1.916000	0.00518	GTA		0.308	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1		NM_002493	
NEURL4	84461	hgsc.bcm.edu;ucsc.edu	37	17	7222420	7222420	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:7222420delT	ENST00000399464.2	-	22	3648	c.3633delA	c.(3631-3633)aaafs	p.K1211fs	NEURL4_ENST00000315614.7_Frame_Shift_Del_p.K1209fs|RP11-542C16.2_ENST00000575474.1_Frame_Shift_Del_p.N25fs|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Frame_Shift_Del_p.K1187fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1211	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGCTGCCCGTTTGAGGGCAC	0.587																																																	0													52.0	62.0	59.0					17																	7222420		2008	4163	6171	SO:0001589	frameshift_variant	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3633delA	17.37:g.7222420delT	ENSP00000382390:p.Lys1211fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	CCDS42251.1																																																																																				0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442	
NSA2	10412	broad.mit.edu;hgsc.bcm.edu	37	5	74069762	74069762	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:74069762G>A	ENST00000296802.5	+	5	961	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	198					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.G198S(1)		breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ACCAATACTTGGTGTAAAGAA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											105.0	93.0	97.0					5																	74069762		2203	4300	6503	SO:0001583	missense	10412			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.592G>A	5.37:g.74069762G>A	ENSP00000296802:p.Gly198Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000296802.5	37	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058709	0.76074	.	.	ENSG00000164346	ENST00000296802	T	0.29917	1.55	5.4	5.4	0.78164	.	0.046129	0.85682	D	0.000000	T	0.26666	0.0652	L	0.37630	1.12	0.80722	D	1	B	0.34255	0.445	B	0.32289	0.143	T	0.03278	-1.1053	10	0.18276	T	0.48	.	19.5387	0.95266	0.0:0.0:1.0:0.0	.	198	O95478	NSA2_HUMAN	S	198	ENSP00000296802:G198S	ENSP00000296802:G198S	G	+	1	0	NSA2	74105518	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.345000	0.97053	2.686000	0.91538	0.555000	0.69702	GGT		0.413	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3		NM_014886	
OR51D1	390038	hgsc.bcm.edu;ucsc.edu	37	11	4661043	4661044	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:4661043_4661044insCC	ENST00000357605.2	+	1	99_100	c.23_24insCC	c.(22-27)gtccctfs	p.VP8fs		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCTCTTGGTCCCTATCATAG	0.48																																																	0																																										SO:0001589	frameshift_variant	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.24_25dupCC	11.37:g.4661044_4661045dupCC	ENSP00000350222:p.Val8fs	Somatic		WXS	Illumina HiSeq	Phase_I	B9EIK4	Frame_Shift_Ins	INS	ENST00000357605.2	37	CCDS31357.1																																																																																				0.480	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751	
NXF1	10482	broad.mit.edu;ucsc.edu	37	11	62569079	62569079	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:62569079C>G	ENST00000532297.1	-	8	1293	c.664G>C	c.(664-666)Ggc>Cgc	p.G222R	NXF1_ENST00000294172.2_Missense_Mutation_p.G222R|NXF1_ENST00000531131.1_Missense_Mutation_p.G85R|NXF1_ENST00000439713.2_Missense_Mutation_p.G222R|NXF1_ENST00000531709.2_Missense_Mutation_p.G222R			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	222					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.G222R(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						TGTTGGGAGCCATCGTATCGT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											167.0	166.0	167.0					11																	62569079		2201	4299	6500	SO:0001583	missense	10482			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.664G>C	11.37:g.62569079C>G	ENSP00000436679:p.Gly222Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194396	0.78902	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.46	5.46	0.80206	.	0.049894	0.85682	D	0.000000	T	0.53932	0.1827	L	0.38175	1.15	0.80722	D	1	P;D;D;D	0.89917	0.804;0.976;1.0;0.997	B;B;D;P	0.91635	0.319;0.361;0.999;0.767	T	0.41574	-0.9501	10	0.22706	T	0.39	-28.0921	16.8154	0.85733	0.0:1.0:0.0:0.0	.	85;265;235;222	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	R	222;222;265;222	ENSP00000294172:G222R;ENSP00000436679:G222R;ENSP00000435742:G265R;ENSP00000408864:G222R	ENSP00000294172:G222R	G	-	1	0	NXF1	62325655	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.174000	0.65015	2.573000	0.86826	0.655000	0.94253	GGC		0.512	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362	
PANK1	53354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91344174	91344174	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:91344174C>A	ENST00000307534.4	-	7	1941	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	PANK1_ENST00000322191.6_Missense_Mutation_p.D312Y|PANK1_ENST00000342512.3_Missense_Mutation_p.D371Y|PANK1_ENST00000371774.2_Missense_Mutation_p.D398Y	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	596					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.D596Y(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TACTTGTCATCAGTCATTTTG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											173.0	168.0	169.0					10																	91344174		2203	4300	6503	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1786G>T	10.37:g.91344174C>A	ENSP00000302108:p.Asp596Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388926	0.42308	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99704	-6.2;-6.01;-6.27;-6.46	4.8	4.8	0.61643	.	0.189189	0.44097	D	0.000495	D	0.98438	0.9480	N	0.08118	0	0.53005	D	0.999968	P;P;P;P	0.48407	0.763;0.91;0.676;0.891	P;P;P;B	0.47673	0.452;0.554;0.447;0.347	D	0.99490	1.0950	10	0.66056	D	0.02	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	398;596;312;371	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	Y	371;312;398;596;459	ENSP00000345118:D371Y;ENSP00000318526:D312Y;ENSP00000360839:D398Y;ENSP00000302108:D596Y	ENSP00000302108:D596Y	D	-	1	0	PANK1	91334154	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	2.941000	0.49011	2.642000	0.89623	0.655000	0.94253	GAT		0.438	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52637689	52637689	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr3:52637689C>A	ENST00000296302.7	-	17	2628	c.2627G>T	c.(2626-2628)cGt>cTt	p.R876L	PBRM1_ENST00000394830.3_Missense_Mutation_p.R876L|PBRM1_ENST00000356770.4_Missense_Mutation_p.R844L|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876L|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891L|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876L|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891L|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876L			Q86U86	PB1_HUMAN	polybromo 1	876					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R876L(2)|p.R844L(1)|p.R844H(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGTTCATCACGAATTTTAAT	0.353			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Missense(4)	kidney(3)|NS(1)											68.0	65.0	66.0					3																	52637689		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2627G>T	3.37:g.52637689C>A	ENSP00000296302:p.Arg876Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	34	5.335196	0.95758	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60171	0.22;0.28;0.21;0.21;0.22;0.25;0.69;0.22;0.28;0.34	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;0.999;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:1.0:0.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	L	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844L;ENSP00000378307:R876L;ENSP00000296302:R876L;ENSP00000338302:R876L;ENSP00000386593:R876L;ENSP00000386529:R876L;ENSP00000386643:R891L;ENSP00000386601:R891L;ENSP00000387775:R876L;ENSP00000397662:R835L	ENSP00000296302:R876L	R	-	2	0	PBRM1	52612729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.850000	0.98022	0.650000	0.86243	CGT		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PKHD1	5314	hgsc.bcm.edu;ucsc.edu	37	6	51777241	51777241	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:51777241T>A	ENST00000371117.3	-	38	6530	c.6255A>T	c.(6253-6255)aaA>aaT	p.K2085N	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2085N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2085					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTTGGCACCTTTAACACCTG	0.488																																																	0													183.0	167.0	172.0					6																	51777241		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6255A>T	6.37:g.51777241T>A	ENSP00000360158:p.Lys2085Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.910	0.537588	0.13188	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92397	-3.03;-3.03	5.99	3.55	0.40652	.	0.746945	0.12817	N	0.436712	T	0.66137	0.2759	N	0.08118	0	0.09310	N	1	B;B;B	0.24426	0.001;0.103;0.029	B;B;B	0.26094	0.002;0.066;0.019	T	0.58261	-0.7667	10	0.20519	T	0.43	.	6.0887	0.19983	0.0:0.083:0.1634:0.7537	.	2085;2085;2085	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	N	2085	ENSP00000360158:K2085N;ENSP00000341097:K2085N	ENSP00000341097:K2085N	K	-	3	2	PKHD1	51885200	0.136000	0.22515	0.051000	0.19133	0.173000	0.22820	1.317000	0.33631	0.483000	0.27608	0.533000	0.62120	AAA		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
PPIB	5479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	64448267	64448268	+	Missense_Mutation	DNP	GC	GC	AT	rs143287832		TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr15:64448267_64448268GC>AT	ENST00000300026.3	-	5	823_824	c.605_606GC>AT	c.(604-606)tGC>tAT	p.C202Y	SNX22_ENST00000325881.4_3'UTR|PPIB_ENST00000558492.1_5'Flank	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.C202C(1)|p.C202Y(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CGATCTTGCCGCAGTCTGCGAT	0.569																																					GBM(105;399 1481 32889 33051 36637)												2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.605_606delinsAT	15.37:g.64448267_64448268delinsAT	ENSP00000300026:p.Cys202Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K534|Q6IBH5|Q9BVK5	Silent|Missense_Mutation	SNP	ENST00000300026.3	37	CCDS10191.1																																																																																				0.569	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			
PTPN13	5783	broad.mit.edu;ucsc.edu	37	4	87643378	87643378	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:87643378A>C	ENST00000411767.2	+	10	1462	c.1399A>C	c.(1399-1401)Aca>Cca	p.T467P	PTPN13_ENST00000511467.1_Missense_Mutation_p.T467P|PTPN13_ENST00000316707.6_Missense_Mutation_p.T467P|PTPN13_ENST00000436978.1_Missense_Mutation_p.T467P|PTPN13_ENST00000427191.2_Missense_Mutation_p.T467P			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	467					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.T467P(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAATATGAAACACCCTTTGA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											66.0	60.0	62.0					4																	87643378		1853	4104	5957	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1399A>C	4.37:g.87643378A>C	ENSP00000407249:p.Thr467Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569216	0.45798	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.51574	0.7;0.72;0.79;0.7;0.72	4.79	3.59	0.41128	.	0.500057	0.16583	N	0.208135	T	0.48607	0.1509	L	0.51422	1.61	0.27696	N	0.945965	D;P;P;P	0.56968	0.978;0.82;0.725;0.82	P;P;B;P	0.52646	0.705;0.527;0.424;0.628	T	0.34675	-0.9819	10	0.35671	T	0.21	.	7.0731	0.25189	0.7469:0.0:0.2531:0.0	.	467;467;467;467	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	P	467;467;467;467;467;435	ENSP00000408368:T467P;ENSP00000394794:T467P;ENSP00000322675:T467P;ENSP00000407249:T467P;ENSP00000426626:T467P	ENSP00000322675:T467P	T	+	1	0	PTPN13	87862402	0.997000	0.39634	0.999000	0.59377	0.988000	0.76386	0.728000	0.26013	0.754000	0.32968	0.460000	0.39030	ACA		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			
RAB3C	115827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	57913493	57913493	+	Silent	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:57913493G>A	ENST00000282878.4	+	2	217	c.48G>A	c.(46-48)agG>agA	p.R16R		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	16					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.R16R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AAGATGCCAGGTACGGCCAGA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	68.0	70.0					5																	57913493		2203	4300	6503	SO:0001819	synonymous_variant	115827			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.48G>A	5.37:g.57913493G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000282878.4	37	CCDS3976.1																																																																																				0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2		NM_138453	
RAD50	10111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131894990	131894990	+	Silent	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:131894990T>C	ENST00000265335.6	+	2	531	c.144T>C	c.(142-144)tgT>tgC	p.C48C	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	48					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.C48C(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATTGAATGTCTAAAATATA	0.284								Homologous recombination																																									1	Substitution - coding silent(1)	kidney(1)											45.0	50.0	49.0					5																	131894990		2201	4283	6484	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.144T>C	5.37:g.131894990T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	CCDS34233.1																																																																																				0.284	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732	
RBM28	55131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127950874	127950874	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr7:127950874C>G	ENST00000223073.2	-	19	2370	c.2256G>C	c.(2254-2256)aaG>aaC	p.K752N	RBM28_ENST00000415472.2_Missense_Mutation_p.K611N|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	752					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K752N(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATTTGCTCCTCTTTGCAAGAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											175.0	170.0	172.0					7																	127950874		2203	4300	6503	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2256G>C	7.37:g.127950874C>G	ENSP00000223073:p.Lys752Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466183	0.63625	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.25579	2.75;1.79	5.6	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.71581	2.175	0.48632	D	0.999686	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.959;0.991;0.988	T	0.36163	-0.9759	10	0.72032	D	0.01	-19.1546	7.6175	0.28167	0.0:0.7422:0.0:0.2578	.	611;752;611	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	N	752;611	ENSP00000223073:K752N;ENSP00000390517:K611N	ENSP00000223073:K752N	K	-	3	2	RBM28	127738110	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.879000	0.28146	0.735000	0.32537	-0.258000	0.10820	AAG		0.483	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2		NM_018077	
RBPJ	3516	broad.mit.edu;ucsc.edu	37	4	26432360	26432360	+	Missense_Mutation	SNP	C	C	G	rs1064382		TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:26432360C>G	ENST00000361572.6	+	11	1428	c.1234C>G	c.(1234-1236)Cga>Gga	p.R412G	RBPJ_ENST00000504907.1_Missense_Mutation_p.P363R|RBPJ_ENST00000342320.4_Missense_Mutation_p.R398G|RBPJ_ENST00000345843.3_Missense_Mutation_p.R397G|RBPJ_ENST00000348160.4_Missense_Mutation_p.R399G|RBPJ_ENST00000342295.1_Missense_Mutation_p.R412G|RBPJ_ENST00000355476.3_Missense_Mutation_p.R398G|RBPJ_ENST00000507561.1_Missense_Mutation_p.R377G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	412	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R398G(1)|p.R399G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTCTGCATTCCGAGAAGGTTG	0.438																																																	2	Substitution - Missense(2)	kidney(2)											81.0	82.0	82.0					4																	26432360		2203	4300	6503	SO:0001583	missense	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1234C>G	4.37:g.26432360C>G	ENSP00000354528:p.Arg412Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.91|14.91	2.675893|2.675893	0.47886|0.47886	.|.	.|.	ENSG00000168214|ENSG00000168214	ENST00000504907|ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423	T|T;T;T;T;T;T;T;T	0.56941|0.14266	0.43|2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33731|0.33731	0.0873|0.0873	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	B|P;P;P;P	0.24186|0.51351	0.099|0.944;0.931;0.931;0.944	B|P;P;P;P	0.25759|0.55055	0.063|0.767;0.655;0.655;0.767	T|T	0.02411|0.02411	-1.1163|-1.1163	9|10	0.40728|0.25751	T|T	0.16|0.34	-9.992|-9.992	19.3944|19.3944	0.94601|0.94601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	363|399;398;397;412	D6R927|B4DY22;Q06330-6;Q06330-4;Q06330	.|.;.;.;SUH_HUMAN	R|G	363|397;412;412;399;398;377;398;98	ENSP00000423703:P363R|ENSP00000305815:R397G;ENSP00000345206:R412G;ENSP00000354528:R412G;ENSP00000339699:R399G;ENSP00000347659:R398G;ENSP00000423907:R377G;ENSP00000340124:R398G;ENSP00000421804:R98G	ENSP00000423703:P363R|ENSP00000345206:R412G	P|R	+|+	2|1	0|2	RBPJ|RBPJ	26041458|26041458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.479000|4.479000	0.60236|0.60236	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.438	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2		NM_015874	
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237947442	237947442	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:237947442C>T	ENST00000366574.2	+	90	12747	c.12430C>T	c.(12430-12432)Cgc>Tgc	p.R4144C	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R4128C|RYR2_ENST00000360064.6_Missense_Mutation_p.R4150C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4144					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4142C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCGCCAAACGCATCGAGAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											78.0	79.0	78.0					1																	237947442		1920	4143	6063	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12430C>T	1.37:g.237947442C>T	ENSP00000355533:p.Arg4144Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237775	0.79800	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97752	-4.52;-4.52;-4.52	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	D	0.98295	0.9435	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.76071	0.891;0.987	D	0.98891	1.0773	10	0.87932	D	0	.	14.3396	0.66617	0.1482:0.8518:0.0:0.0	.	1118;4144	B4DGV4;Q92736	.;RYR2_HUMAN	C	4144;4150;4128;1118	ENSP00000355533:R4144C;ENSP00000353174:R4150C;ENSP00000443798:R4128C	ENSP00000353174:R4150C	R	+	1	0	RYR2	236014065	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.793000	0.55484	2.610000	0.88304	0.655000	0.94253	CGC		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SEC63	11231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	108204350	108204350	+	Splice_Site	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:108204350C>T	ENST00000369002.4	-	17	1854	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	559					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.E559K(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACTGCAGCTTCCTAAAAGGGA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											99.0	86.0	91.0					6																	108204350		2203	4300	6503	SO:0001630	splice_region_variant	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1675-1G>A	6.37:g.108204350C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187350	0.38609	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.70399	-0.48	5.15	5.15	0.70609	Sec63 domain (2);	0.179695	0.64402	D	0.000013	T	0.39253	0.1071	L	0.27053	0.805	0.80722	D	1	B;P	0.34522	0.007;0.455	B;B	0.27076	0.004;0.076	T	0.50524	-0.8818	10	0.07813	T	0.8	-10.7889	18.9898	0.92786	0.0:1.0:0.0:0.0	.	559;559	Q9UGP8;B3KQF0	SEC63_HUMAN;.	K	559;210	ENSP00000357998:E559K	ENSP00000357998:E559K	E	-	1	0	SEC63	108311043	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.776000	0.62354	2.555000	0.86185	0.650000	0.86243	GAA		0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4		NM_007214	Missense_Mutation
SEL1L3	23231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	25819801	25819801	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:25819801G>T	ENST00000399878.3	-	9	1645	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H	SEL1L3_ENST00000264868.5_Missense_Mutation_p.P473H|SEL1L3_ENST00000502949.1_Missense_Mutation_p.P355H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	508						integral component of membrane (GO:0016021)		p.P508H(1)|p.P355H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAACAAGCTGGGGTGTTTGTC	0.552																																																	2	Substitution - Missense(2)	kidney(2)											74.0	76.0	75.0					4																	25819801		1967	4159	6126	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1523C>A	4.37:g.25819801G>T	ENSP00000382767:p.Pro508His	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388908	0.04932	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14022	2.75;2.75;2.54	5.95	0.64	0.17752	.	0.878737	0.10361	N	0.683956	T	0.06962	0.0177	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44236	-0.9341	10	0.12766	T	0.61	-5.1565	4.7615	0.13110	0.0865:0.4535:0.3155:0.1444	.	508	Q68CR1	SE1L3_HUMAN	H	508;473;355	ENSP00000382767:P508H;ENSP00000264868:P473H;ENSP00000425438:P355H	ENSP00000264868:P473H	P	-	2	0	SEL1L3	25428899	0.390000	0.25213	0.060000	0.19600	0.443000	0.32047	0.132000	0.15891	0.404000	0.25506	0.655000	0.94253	CCC		0.552	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		NM_015187	
SEMA4G	57715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102738875	102738875	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:102738875A>T	ENST00000370250.4	+	8	1203	c.830A>T	c.(829-831)aAg>aTg	p.K277M	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.K277M|SEMA4G_ENST00000517724.1_Missense_Mutation_p.K277M|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000318325.2_3'UTR	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	277	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K277M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTGGGAGGGAAGAAGATCCTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											86.0	78.0	81.0					10																	102738875		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.830A>T	10.37:g.102738875A>T	ENSP00000359270:p.Lys277Met	Somatic		WXS	Illumina HiSeq	Phase_I	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	a	18.42	3.620926	0.66787	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.76	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.139743	0.64402	D	0.000003	T	0.27663	0.0680	L	0.60455	1.87	0.40355	D	0.979174	P;P;B	0.52463	0.723;0.953;0.017	P;P;B	0.59761	0.705;0.863;0.053	T	0.01504	-1.1338	10	0.62326	D	0.03	.	10.0695	0.42324	0.914:0.0:0.086:0.0	.	277;277;277	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	M	277	ENSP00000428896:K277M;ENSP00000359270:K277M;ENSP00000430175:K277M;ENSP00000210633:K277M	ENSP00000210633:K277M	K	+	2	0	SEMA4G	102728865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.652000	0.46682	0.958000	0.37956	0.392000	0.25879	AAG		0.592	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			
SF3B1	23451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198260796	198260796	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:198260796C>A	ENST00000335508.6	-	23	3614	c.3523G>T	c.(3523-3525)Gat>Tat	p.D1175Y		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1175					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.D1175Y(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTAAAGCATCTTCAAGTAAC	0.308			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	1	Substitution - Missense(1)	kidney(1)											96.0	93.0	94.0					2																	198260796		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3523G>T	2.37:g.198260796C>A	ENSP00000335321:p.Asp1175Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.354225|3.354225	0.61293|0.61293	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000335508|ENST00000424674	T|.	0.66638|.	-0.22|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85923|0.85923	0.5810|0.5810	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88278|0.88278	0.2934|0.2934	10|5	0.87932|.	D|.	0|.	.|.	19.0887|19.0887	0.93217|0.93217	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1175|.	O75533|.	SF3B1_HUMAN|.	Y|N	1175|190	ENSP00000335321:D1175Y|.	ENSP00000335321:D1175Y|.	D|K	-|-	1|3	0|2	SF3B1|SF3B1	197969041|197969041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.534000|7.534000	0.82004|0.82004	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.308	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			
SND1	27044	hgsc.bcm.edu;ucsc.edu	37	7	127343341	127343341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr7:127343341delC	ENST00000354725.3	+	7	998	c.804delC	c.(802-804)tgcfs	p.C268fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	268	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGGAGAGCTGCCACAACCAGA	0.493																																																	0													77.0	70.0	72.0					7																	127343341		2203	4300	6503	SO:0001589	frameshift_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.804delC	7.37:g.127343341delC	ENSP00000346762:p.Cys268fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q13122|Q96AG0	Frame_Shift_Del	DEL	ENST00000354725.3	37	CCDS34747.1																																																																																				0.493	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390	
SPEF2	79925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35759818	35759818	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:35759818T>C	ENST00000356031.3	+	25	3771	c.3617T>C	c.(3616-3618)cTt>cCt	p.L1206P	SPEF2_ENST00000440995.2_Missense_Mutation_p.L1201P|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1206					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.L1206P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAGCCAGCTTAGGTAAGGC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											85.0	83.0	84.0					5																	35759818		1849	4078	5927	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3617T>C	5.37:g.35759818T>C	ENSP00000348314:p.Leu1206Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069990	0.36566	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.29142	1.58;1.58	5.33	-0.0587	0.13796	.	1.148590	0.06373	N	0.713787	T	0.33294	0.0858	M	0.65975	2.015	0.09310	N	1	P;P	0.47677	0.899;0.697	P;B	0.44990	0.466;0.201	T	0.31024	-0.9958	10	0.35671	T	0.21	.	5.1804	0.15158	0.5629:0.0847:0.0:0.3523	.	1201;1206	Q9C093-2;Q9C093	.;SPEF2_HUMAN	P	1206;1201	ENSP00000348314:L1206P;ENSP00000412125:L1201P	ENSP00000348314:L1206P	L	+	2	0	SPEF2	35795575	0.003000	0.15002	0.144000	0.22314	0.016000	0.09150	0.395000	0.20850	0.385000	0.24970	-0.336000	0.08194	CTT		0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722	
SPTBN2	6712	hgsc.bcm.edu	37	11	66461311	66461312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:66461311_66461312insC	ENST00000533211.1	-	23	4855_4856	c.4524_4525insG	c.(4522-4527)ctgcccfs	p.P1509fs	SPTBN2_ENST00000309996.2_Frame_Shift_Ins_p.P1509fs|SPTBN2_ENST00000529997.1_Frame_Shift_Ins_p.P1509fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1509					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGCCATGGGCAGCCGCTCTG	0.589																																																	0																																										SO:0001589	frameshift_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4525dupG	11.37:g.66461312_66461312dupC	ENSP00000432568:p.Pro1509fs	Somatic		WXS	Illumina HiSeq	Phase_I	O14872|O14873	Frame_Shift_Ins	INS	ENST00000533211.1	37	CCDS8150.1																																																																																				0.589	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946	
TECPR2	9895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102906859	102906859	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr14:102906859G>A	ENST00000359520.7	+	11	2891	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E889K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	889					autophagy (GO:0006914)|cell death (GO:0008219)			p.E889K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCACTGGTACGAAGCCCTGCC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											73.0	74.0	74.0					14																	102906859		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2665G>A	14.37:g.102906859G>A	ENSP00000352510:p.Glu889Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036452	0.75617	.	.	ENSG00000196663	ENST00000359520	T	0.80393	-1.37	5.86	5.86	0.93980	.	0.049705	0.85682	D	0.000000	T	0.71476	0.3344	N	0.14661	0.345	0.48696	D	0.999694	B;D;P	0.54964	0.315;0.969;0.92	B;B;B	0.43536	0.018;0.423;0.313	T	0.71437	-0.4593	10	0.31617	T	0.26	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	72;889;889	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	K	889	ENSP00000352510:E889K	ENSP00000352510:E889K	E	+	1	0	TECPR2	101976612	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.558000	0.82253	2.937000	0.99478	0.650000	0.86243	GAA		0.547	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2		NM_014844	
TGFBR3	7049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92184975	92184975	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:92184975C>A	ENST00000525962.1	-	9	1521	c.1460G>T	c.(1459-1461)tGc>tTc	p.C487F	TGFBR3_ENST00000370399.2_Missense_Mutation_p.C486F|TGFBR3_ENST00000212355.4_Missense_Mutation_p.C487F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	487	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.C487F(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTTGGCCTTGCAGGTAGGATC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											155.0	133.0	141.0					1																	92184975		2203	4300	6503	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1460G>T	1.37:g.92184975C>A	ENSP00000436127:p.Cys487Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842737	0.71488	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49	5.88	5.88	0.94601	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.961;0.997	D	0.96416	0.9308	10	0.87932	D	0	-15.811	18.4171	0.90574	0.0:1.0:0.0:0.0	.	487;486;487	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	F	487;486;487;486	ENSP00000212355:C487F;ENSP00000359426:C486F;ENSP00000436127:C487F;ENSP00000432638:C486F	ENSP00000212355:C487F	C	-	2	0	TGFBR3	91957563	1.000000	0.71417	0.998000	0.56505	0.500000	0.33767	6.365000	0.73090	2.792000	0.96026	0.557000	0.71058	TGC		0.542	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243	
THADA	63892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43805654	43805654	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:43805654A>T	ENST00000405006.4	-	9	1165	c.814T>A	c.(814-816)Ttg>Atg	p.L272M	THADA_ENST00000415080.2_De_novo_Start_InFrame|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000405975.2_Missense_Mutation_p.L272M|THADA_ENST00000403856.1_Missense_Mutation_p.L272M|THADA_ENST00000402360.2_Missense_Mutation_p.L272M|THADA_ENST00000404790.1_Missense_Mutation_p.L272M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	272								p.L272M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCACTTACCAAATGAGGAATC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											54.0	54.0	54.0					2																	43805654		1825	4084	5909	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.814T>A	2.37:g.43805654A>T	ENSP00000385995:p.Leu272Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.301829	0.60195	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.39787	2.54;2.54;1.16;1.13;1.06	4.85	3.69	0.42338	.	0.198010	0.36268	N	0.002690	T	0.58466	0.2124	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.79108	0.992;0.988;0.596;0.991	T	0.56153	-0.8026	10	0.37606	T	0.19	-0.5067	9.2736	0.37686	0.9178:0.0:0.0822:0.0	.	272;272;272;272	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	M	272	ENSP00000386088:L272M;ENSP00000385995:L272M;ENSP00000385441:L272M;ENSP00000384266:L272M;ENSP00000385469:L272M	ENSP00000349464:L272M	L	-	1	2	THADA	43659158	0.732000	0.28121	0.780000	0.31762	0.792000	0.44763	2.101000	0.41787	0.979000	0.38497	0.533000	0.62120	TTG		0.348	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3		NM_022065	
TMEM100	55273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53798317	53798317	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:53798317C>G	ENST00000575734.1	-	4	923	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	TMEM100_ENST00000424486.2_Missense_Mutation_p.E39Q|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	39					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.E39Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						AACTGAATCTCACTGACCAGA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											142.0	136.0	138.0					17																	53798317		2203	4300	6503	SO:0001583	missense	55273			AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.115G>C	17.37:g.53798317C>G	ENSP00000465638:p.Glu39Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053235	0.93793	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.91	5.91	0.95273	.	0.095882	0.64402	D	0.000001	T	0.79747	0.4499	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79541	-0.1761	9	0.59425	D	0.04	.	19.2867	0.94077	0.0:1.0:0.0:0.0	.	39	Q9NV29	TM100_HUMAN	Q	39	.	ENSP00000299377:E39Q	E	-	1	0	TMEM100	51153316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.136000	0.77285	2.793000	0.96121	0.655000	0.94253	GAG		0.567	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2		NM_018286	
VHL	7428	hgsc.bcm.edu	37	3	10183755	10183755	+	Frame_Shift_Del	DEL	T	T	-	rs5030648		TCGA-B0-4816-01A-01W-1528-10	TCGA-B0-4816-11A-02W-1528-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5ee9c73-2794-4e3c-bcaa-9d6b3bd63024	076ea472-3ea0-410f-b24f-f2e5659e0b90	g.chr3:10183755delT	ENST00000256474.2	+	1	1064	c.224delT	c.(223-225)atcfs	p.I75fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.I75fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	75			Missing (in VHLD). {ECO:0000269|PubMed:8493574}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.F76del(3)|p.S72_V87>L(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.I75fs*54(1)|p.I75fs*57(1)|p.P71fs*56(1)|p.V74fs*77(1)|p.V74fs*82(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCCAGGTCATCTTCTGCAAT	0.731		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(10)|soft_tissue(1)	GRCh37	CM071136	VHL	M							11.0	14.0	13.0					3																	10183755		2171	4237	6408	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.224delT	3.37:g.10183755delT	ENSP00000256474:p.Ile75fs	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.731	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR78	79819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67340463	67340463	+	Splice_Site	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:67340463C>T	ENST00000371026.3	-	5	856		c.e5+1		WDR78_ENST00000431318.1_Splice_Site|WDR78_ENST00000371022.3_Splice_Site|WDR78_ENST00000371023.3_Splice_Site	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)			p.?(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACCATACATACGTTACTTTCT	0.403																																																	1	Unknown(1)	kidney(1)											160.0	153.0	155.0					1																	67340463		2203	4300	6503	SO:0001630	splice_region_variant	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.800+1G>A	1.37:g.67340463C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538982	0.45176	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2912	0.49252	0.0:0.9151:0.0:0.0849	.	.	.	.	.	-1	.	.	.	-	.	.	WDR78	67113051	0.998000	0.40836	0.914000	0.36105	0.611000	0.37282	4.129000	0.57957	2.467000	0.83353	0.591000	0.81541	.		0.403	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1		NM_024763	Intron
ZNF169	169841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	97062172	97062172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr9:97062172C>T	ENST00000395395.2	+	5	422	c.332C>T	c.(331-333)gCg>gTg	p.A111V	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	111					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.A111V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGACAATATGCGCTAAGTGGC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	72.0					9																	97062172		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.332C>T	9.37:g.97062172C>T	ENSP00000378792:p.Ala111Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.620357	0.00828	.	.	ENSG00000175787	ENST00000395395	T	0.06294	3.32	2.59	1.46	0.22682	.	.	.	.	.	T	0.01870	0.0059	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48293	-0.9048	9	0.10377	T	0.69	.	4.1834	0.10387	0.0:0.1726:0.0:0.8274	.	111	Q14929	ZN169_HUMAN	V	111	ENSP00000378792:A111V	ENSP00000378792:A111V	A	+	2	0	ZNF169	96101993	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.237000	0.17985	0.440000	0.26502	-0.438000	0.05819	GCG		0.498	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1		NM_194320	
ZNF33A	7581	hgsc.bcm.edu	37	10	38343924	38343924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:38343924delC	ENST00000458705.2	+	5	1027	c.869delC	c.(868-870)tctfs	p.S290fs	ZNF33A_ENST00000307441.9_Frame_Shift_Del_p.S290fs|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Frame_Shift_Del_p.S291fs|ZNF33A_ENST00000432900.2_Frame_Shift_Del_p.S297fs			Q06730	ZN33A_HUMAN	zinc finger protein 33A	290					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCCACCCTTTCTAAACCTCAT	0.393																																																	0													74.0	74.0	74.0					10																	38343924		2203	4299	6502	SO:0001589	frameshift_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.869delC	10.37:g.38343924delC	ENSP00000387713:p.Ser290fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Frame_Shift_Del	DEL	ENST00000458705.2	37	CCDS31182.1																																																																																				0.393	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1		NM_006974	
ZNF57	126295	broad.mit.edu;hgsc.bcm.edu	37	19	2917940	2917940	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:2917940A>T	ENST00000306908.5	+	4	1469	c.1321A>T	c.(1321-1323)Att>Ttt	p.I441F	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.I409F	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	441					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.I441F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGTGAGAATTCACACGCA	0.463																																					NSCLC(150;910 1964 4303 10464 26498)												1	Substitution - Missense(1)	kidney(1)											111.0	101.0	104.0					19																	2917940		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1321A>T	19.37:g.2917940A>T	ENSP00000303696:p.Ile441Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958034	0.73902	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.08807	3.05;3.05	2.02	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	L	0.58925	1.835	0.31557	N	0.658023	D	0.71674	0.998	D	0.65874	0.939	T	0.08046	-1.0741	9	0.66056	D	0.02	.	7.6452	0.28316	1.0:0.0:0.0:0.0	.	441	Q68EA5	ZNF57_HUMAN	F	441;443;409	ENSP00000303696:I441F;ENSP00000430223:I409F	ENSP00000303696:I441F	I	+	1	0	ZNF57	2868940	0.000000	0.05858	0.005000	0.12908	0.649000	0.38597	0.278000	0.18753	0.939000	0.37446	0.418000	0.28097	ATT		0.463	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1		NM_173480	
ZNF829	374899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37382715	37382715	+	Silent	SNP	A	A	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:37382715A>G	ENST00000391711.3	-	6	1342	c.978T>C	c.(976-978)tgT>tgC	p.C326C	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.C407C|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	326					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.C326C(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTGCTTACATTCATAAG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	76.0	75.0					19																	37382715		2199	4300	6499	SO:0001819	synonymous_variant	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.978T>C	19.37:g.37382715A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	CCDS42557.1																																																																																				0.398	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3		NM_001037232	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3945845	3945845	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:3945845C>T	ENST00000381638.2	-	39	6308	c.6184G>A	c.(6184-6186)Gtg>Atg	p.V2062M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2062							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.V2062M(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGAGATGACACTTCTGAATCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											110.0	104.0	106.0					17																	3945845		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6184G>A	17.37:g.3945845C>T	ENSP00000371051:p.Val2062Met	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369325	0.24771	.	.	ENSG00000074755	ENST00000381638	T	0.23348	1.91	5.07	0.657	0.17850	.	2.058680	0.01745	N	0.029612	T	0.13628	0.0330	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.0	T	0.23797	-1.0178	10	0.41790	T	0.15	6.5226	7.2273	0.26022	0.0:0.6656:0.1219:0.2125	.	2062;2062	O43149-2;O43149	.;ZZEF1_HUMAN	M	2062	ENSP00000371051:V2062M	ENSP00000371051:V2062M	V	-	1	0	ZZEF1	3892594	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.619000	0.36965	-0.008000	0.14320	0.591000	0.81541	GTG		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
GMIP	51291	broad.mit.edu	37	19	19744707	19744708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:19744707_19744708insA	ENST00000203556.4	-	19	2513_2514	c.2376_2377insT	c.(2374-2379)gacccafs	p.P793fs	GMIP_ENST00000445806.2_Frame_Shift_Ins_p.P764fs|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Frame_Shift_Ins_p.P767fs	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	793	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						tgggagtctgggtcaaggtgcg	0.693																																																	0																																										SO:0001589	frameshift_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2376_2377insT	19.37:g.19744707_19744708insA	ENSP00000203556:p.Pro793fs	Somatic		WXS	Illumina GAIIx	Phase_I	A0AVN9|B7ZLZ0	Frame_Shift_Ins	INS	ENST00000203556.4	37	CCDS12408.1																																																																																				0.693	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1		NM_016573	
ITIH5	80760	broad.mit.edu	37	10	7621991	7621991	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:7621991C>G	ENST00000256861.6	-	9	1223	c.1145G>C	c.(1144-1146)aGg>aCg	p.R382T	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R382T|ITIH5_ENST00000446830.2_Missense_Mutation_p.R164T|ITIH5_ENST00000298441.6_Missense_Mutation_p.R168T|ITIH5_ENST00000397145.2_Missense_Mutation_p.R382T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	382	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R382T(2)|p.R382M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTGAGGAGCCTGATGGCCCT	0.612																																																	3	Substitution - Missense(3)	kidney(2)|lung(1)											45.0	41.0	43.0					10																	7621991		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1145G>C	10.37:g.7621991C>G	ENSP00000256861:p.Arg382Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074473	0.07184	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.33	0.808	0.18719	von Willebrand factor, type A (3);	1.046220	0.07308	N	0.875263	T	0.64571	0.2610	.	.	.	0.09310	N	1	B;B;B	0.33000	0.062;0.393;0.341	B;B;B	0.33846	0.171;0.124;0.076	T	0.50432	-0.8829	9	0.24483	T	0.36	-1.6162	8.0759	0.30716	0.0:0.4466:0.0:0.5534	.	382;382;168	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	382;382;168;164;382	ENSP00000256861:R382T;ENSP00000380333:R382T;ENSP00000298441:R168T;ENSP00000387969:R164T;ENSP00000380332:R382T	ENSP00000256861:R382T	R	-	2	0	ITIH5	7661997	0.048000	0.20356	0.757000	0.31301	0.156000	0.22039	0.618000	0.24373	0.247000	0.21414	0.561000	0.74099	AGG		0.612	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1		NM_030569	
KANK4	163782	broad.mit.edu	37	1	62740313	62740313	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:62740313C>T	ENST00000371153.4	-	3	841	c.463G>A	c.(463-465)Gga>Aga	p.G155R	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	155						cytoplasm (GO:0005737)		p.G155R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGGGCCGTCCACTCCCAAAA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											31.0	36.0	34.0					1																	62740313		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.463G>A	1.37:g.62740313C>T	ENSP00000360195:p.Gly155Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161292	0.57368	.	.	ENSG00000132854	ENST00000371153	T	0.76316	-1.01	4.88	3.02	0.34903	.	0.218384	0.23442	N	0.048121	T	0.71492	0.3346	L	0.56769	1.78	0.26682	N	0.971516	B	0.15930	0.015	B	0.15052	0.012	T	0.60757	-0.7200	10	0.34782	T	0.22	-2.8325	10.6987	0.45913	0.0:0.844:0.0:0.156	.	155	Q5T7N3	KANK4_HUMAN	R	155	ENSP00000360195:G155R	ENSP00000360195:G155R	G	-	1	0	KANK4	62512901	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.520000	0.22878	0.670000	0.31165	0.563000	0.77884	GGA		0.642	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1		NM_181712	
RIMBP2	23504	broad.mit.edu	37	12	130926698	130926698	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr12:130926698G>A	ENST00000261655.4	-	8	1311	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T291M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T291M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	383	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T383M(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACCAGCAGCGTGCACTGCAG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											114.0	102.0	106.0					12																	130926698		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1148C>T	12.37:g.130926698G>A	ENSP00000261655:p.Thr383Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	17.47	3.398389	0.62177	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.55052	0.54;0.54;0.54	4.23	4.23	0.50019	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.83953	2.67	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.83275	0.826;0.972;0.996	T	0.80491	-0.1359	10	0.72032	D	0.01	-24.31	16.6129	0.84899	0.0:0.0:1.0:0.0	.	291;291;383	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	383;291;291;291	ENSP00000261655:T383M;ENSP00000440347:T291M;ENSP00000439159:T291M	ENSP00000261655:T383M	T	-	2	0	RIMBP2	129492651	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	4.555000	0.60767	1.867000	0.54127	0.537000	0.68136	ACG		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347	
TCHH	7062	broad.mit.edu	37	1	152080550	152080550	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:152080550G>T	ENST00000368804.1	-	2	5142	c.5143C>A	c.(5143-5145)Cag>Aag	p.Q1715K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1715	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.Q1715K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCGCAGCTGCTGTTCCTCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											54.0	54.0	54.0					1																	152080550		1877	4111	5988	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5143C>A	1.37:g.152080550G>T	ENSP00000357794:p.Gln1715Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	9.237	1.037414	0.19669	.	.	ENSG00000159450	ENST00000368804	T	0.05649	3.41	4.53	2.57	0.30868	.	.	.	.	.	T	0.01387	0.0045	L	0.49126	1.545	0.09310	N	1	B	0.33413	0.411	B	0.26614	0.071	T	0.46512	-0.9186	9	0.08599	T	0.76	-15.4551	6.8095	0.23796	0.0967:0.0:0.7277:0.1756	.	1715	Q07283	TRHY_HUMAN	K	1715	ENSP00000357794:Q1715K	ENSP00000357794:Q1715K	Q	-	1	0	TCHH	150347174	0.001000	0.12720	0.011000	0.14972	0.022000	0.10575	0.843000	0.27640	0.337000	0.23665	0.440000	0.28878	CAG		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113	
