#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_ORegAnno_bin	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
APPL1	26060	hgsc.bcm.edu	37	3	57280133	57280133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:57280133C>A	ENST00000288266.3	+	8	651	c.504C>A	c.(502-504)taC>taA	p.Y168*		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	168	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AAGATGTGTACACATCCAGAA	0.284																																																	0													144.0	132.0	136.0					3																	57280133		2203	4299	6502	SO:0001587	stop_gained	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.504C>A	3.37:g.57280133C>A	ENSP00000288266:p.Tyr168*		Q9P2B9	Nonsense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873884	0.91664	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.48	-0.285	0.12866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6837	9.272	0.37677	0.0:0.4035:0.0:0.5965	.	.	.	.	X	168	.	ENSP00000288266:Y168X	Y	+	3	2	APPL1	57255173	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	1.499000	0.35671	0.057000	0.16193	-0.216000	0.12614	TAC		0.284	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2		NM_012096	
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133103	119133103	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:119133103A>C	ENST00000264245.4	+	12	2859	c.2327A>C	c.(2326-2328)aAt>aCt	p.N776T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.N776T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCCCAGGCAATCTGTCTCCT	0.582																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	ovary(1)											54.0	58.0	56.0					3																	119133103		1948	4147	6095	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2327A>C	3.37:g.119133103A>C	ENSP00000264245:p.Asn776Thr		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340695	0.41498	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07327	3.2	5.3	4.11	0.48088	.	0.363586	0.26522	N	0.023912	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.26677	-1.0096	10	0.72032	D	0.01	.	9.3552	0.38161	0.9175:0.0:0.0825:0.0	.	776	Q2M1Z3	RHG31_HUMAN	T	776	ENSP00000264245:N776T	ENSP00000264245:N776T	N	+	2	0	ARHGAP31	120615793	0.087000	0.21565	0.024000	0.17045	0.101000	0.19017	1.302000	0.33459	2.225000	0.72522	0.533000	0.62120	AAT		0.582	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			
ASL	435	hgsc.bcm.edu	37	7	65554635	65554635	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr7:65554635A>G	ENST00000304874.9	+	14	1117	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.M339V|ASL_ENST00000380839.4_Missense_Mutation_p.M313V|AC068533.7_ENST00000450043.1_Missense_Mutation_p.Y107C|ASL_ENST00000395331.3_Missense_Mutation_p.M319V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	339					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTCAGACACTATGAGTGCCGT	0.637																																																	0													106.0	72.0	83.0					7																	65554635		2203	4300	6503	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1015A>G	7.37:g.65554635A>G	ENSP00000307188:p.Met339Val		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	CCDS5531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.419|0.419	-0.909478|-0.909478	0.02434|0.02434	.|.	.|.	ENSG00000126522|ENSG00000249319	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331|ENST00000450043	D;D;D;D|.	0.99005|.	-5.32;-5.32;-5.32;-5.32|.	5.26|5.26	1.55|1.55	0.23275|0.23275	L-Aspartase-like (1);|.	0.249082|.	0.39985|.	N|.	0.001203|.	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.00707|0.00707	-1.245|-1.245	0.28429|0.28429	N|N	0.917376|0.917376	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.35151|0.35151	-0.9800|-0.9800	10|5	0.02654|.	T|.	1|.	.|.	4.9656|4.9656	0.14089|0.14089	0.4909:0.1731:0.336:0.0|0.4909:0.1731:0.336:0.0	.|.	313;319;339|.	E9PE48;E7EMI0;P04424|.	.;.;ARLY_HUMAN|.	V|C	339;313;339;319|107	ENSP00000307188:M339V;ENSP00000370219:M313V;ENSP00000378741:M339V;ENSP00000378740:M319V|.	ENSP00000307188:M339V|.	M|Y	+|+	1|2	0|0	ASL|AC068533.7	65192070|65192070	0.924000|0.924000	0.31332|0.31332	0.998000|0.998000	0.56505|0.56505	0.841000|0.841000	0.47740|0.47740	0.733000|0.733000	0.26087|0.26087	0.308000|0.308000	0.22923|0.22923	-0.388000|-0.388000	0.06559|0.06559	ATG|TAT		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2		NM_000048	
ATXN7L1	222255	hgsc.bcm.edu	37	7	105254438	105254438	+	Silent	SNP	C	C	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr7:105254438C>T	ENST00000419735.3	-	10	2388	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	ATXN7L1_ENST00000388807.4_Silent_p.K441K|ATXN7L1_ENST00000477775.1_Silent_p.K657K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	781	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						AACTCGAGTTCTTACGCTTTT	0.512																																																	0													91.0	83.0	85.0					7																	105254438		692	1591	2283	SO:0001819	synonymous_variant	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2343G>A	7.37:g.105254438C>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	37	CCDS47682.1																																																																																				0.512	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			
KIAA0226L	80183	hgsc.bcm.edu;ucsc.edu	37	13	46918949	46918949	+	Silent	SNP	G	G	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr13:46918949G>A	ENST00000429979.1	-	14	2407	c.1803C>T	c.(1801-1803)ggC>ggT	p.G601G	KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000409879.2_Silent_p.G444G|KIAA0226L_ENST00000534925.1_Silent_p.G466G|KIAA0226L_ENST00000378784.4_Silent_p.G534G|KIAA0226L_ENST00000322896.6_Silent_p.G444G|KIAA0226L_ENST00000389908.3_Silent_p.G601G	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CACAAATAAAGCCCTTTCCTT	0.338																																																	0													80.0	72.0	75.0					13																	46918949		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1803C>T	13.37:g.46918949G>A			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990010	0.54041	.	.	ENSG00000102445	ENST00000378797;ENST00000378787	T;T	0.45276	0.9;0.9	5.93	3.18	0.36537	.	1.003200	0.08035	N	0.994137	T	0.27313	0.0670	.	.	.	0.80722	D	1	P	0.46142	0.873	B	0.36244	0.22	T	0.16188	-1.0411	9	0.34782	T	0.22	-20.6098	5.0614	0.14559	0.0752:0.1851:0.5385:0.2013	.	550	Q9H714-4	.	V	550	ENSP00000368074:A550V;ENSP00000368064:A550V	ENSP00000368064:A550V	A	-	2	0	KIAA0226L	45816950	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.351000	0.20096	1.522000	0.49001	0.591000	0.81541	GCT		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2		NM_025113	
C3	718	hgsc.bcm.edu;ucsc.edu	37	19	6702221	6702221	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:6702221A>T	ENST00000245907.6	-	19	2449	c.2357T>A	c.(2356-2358)aTc>aAc	p.I786N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	786					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTCGTAGAGATTCTGGATGG	0.507																																																	0													48.0	46.0	47.0					19																	6702221		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2357T>A	19.37:g.6702221A>T	ENSP00000245907:p.Ile786Asn		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592831	0.46214	.	.	ENSG00000125730	ENST00000245907	T	0.34667	1.35	5.79	5.79	0.91817	Alpha-2-macroglobulin (1);	1.457540	0.03518	N	0.220577	T	0.66626	0.2808	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.34153	-0.9840	10	0.46703	T	0.11	.	15.1124	0.72368	1.0:0.0:0.0:0.0	.	786	P01024	CO3_HUMAN	N	786	ENSP00000245907:I786N	ENSP00000245907:I786N	I	-	2	0	C3	6653221	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	4.420000	0.59841	2.208000	0.71279	0.482000	0.46254	ATC		0.507	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064	
C8orf86	389649	hgsc.bcm.edu	37	8	38386152	38386152	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr8:38386152T>C	ENST00000358138.1	-	1	28	c.4A>G	c.(4-6)Aga>Gga	p.R2G	C8orf86_ENST00000437935.2_Missense_Mutation_p.R2G	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	2										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CCCAGGGGTCTCATTCCCTCC	0.537																																																	0													41.0	38.0	39.0					8																	38386152		2203	4300	6503	SO:0001583	missense	389649			BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.4A>G	8.37:g.38386152T>C	ENSP00000350856:p.Arg2Gly		A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249686	0.22880	.	.	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.56941	0.48;0.43	4.06	2.87	0.33458	.	.	.	.	.	T	0.47395	0.1443	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.29212	-1.0019	9	0.87932	D	0	.	6.6861	0.23146	0.2108:0.0:0.0:0.7892	.	2	Q6ZUL3	CH086_HUMAN	G	2	ENSP00000350856:R2G;ENSP00000389615:R2G	ENSP00000350856:R2G	R	-	1	2	C8orf86	38505309	0.017000	0.18338	0.016000	0.15963	0.091000	0.18340	0.410000	0.21098	0.702000	0.31825	0.459000	0.35465	AGA		0.537	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1		NM_207412	
C9orf57	138240	hgsc.bcm.edu;ucsc.edu	37	9	74667326	74667326	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr9:74667326T>G	ENST00000377024.3	-	5	467	c.372A>C	c.(370-372)aaA>aaC	p.K124N	C9orf57_ENST00000424431.2_Missense_Mutation_p.K90N	NM_001128618.1	NP_001122090.1	Q5W0N0	CI057_HUMAN	chromosome 9 open reading frame 57	124						integral component of membrane (GO:0016021)				endometrium(1)	1						TTGTGCAGCCTTTGACTGAAT	0.423																																																	0													195.0	159.0	170.0					9																	74667326		692	1591	2283	SO:0001583	missense	138240			BC036255	CCDS47980.1	9q21.2	2012-03-15			ENSG00000204669	ENSG00000204669			27037	protein-coding gene	gene with protein product						12477932	Standard	NM_001128618		Approved		uc004aip.3	Q5W0N0	OTTHUMG00000020003	ENST00000377024.3:c.372A>C	9.37:g.74667326T>G	ENSP00000366223:p.Lys124Asn		A1L456	Missense_Mutation	SNP	ENST00000377024.3	37	CCDS47980.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985902	0.53934	.	.	ENSG00000204669	ENST00000377024;ENST00000424431	T;T	0.74209	-0.82;-0.82	4.78	4.78	0.61160	.	0.000000	0.38381	N	0.001720	T	0.74974	0.3787	N	0.24115	0.695	0.32978	D	0.52327	D;D	0.65815	0.995;0.995	D;D	0.66497	0.944;0.944	T	0.81241	-0.1022	10	0.87932	D	0	-20.8863	10.8783	0.46923	0.0:0.0:0.0:1.0	.	90;124	A1L456;Q5W0N0	.;CI057_HUMAN	N	124;90	ENSP00000366223:K124N;ENSP00000412956:K90N	ENSP00000366223:K124N	K	-	3	2	C9orf57	73857146	0.964000	0.33143	0.982000	0.44146	0.284000	0.27059	1.147000	0.31602	2.139000	0.66308	0.450000	0.29827	AAA		0.423	C9orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052631.1		NM_001128618	
CACNA1E	777	hgsc.bcm.edu	37	1	181453105	181453105	+	Silent	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:181453105T>C	ENST00000367573.2	+	1	225	c.225T>C	c.(223-225)gaT>gaC	p.D75D	CACNA1E_ENST00000358338.5_Silent_p.D26D|CACNA1E_ENST00000360108.3_Silent_p.D75D|CACNA1E_ENST00000526775.1_Silent_p.D75D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.D26D|CACNA1E_ENST00000367570.1_Silent_p.D75D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	75					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGGAGAAGATAACATTGTCA	0.507																																																	0													185.0	188.0	187.0					1																	181453105		1922	4141	6063	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.225T>C	1.37:g.181453105T>C			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721	
CC2D2A	57545	hgsc.bcm.edu;ucsc.edu	37	4	15538634	15538634	+	Missense_Mutation	SNP	T	T	C	rs376562389		TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:15538634T>C	ENST00000503292.1	+	16	1879	c.1699T>C	c.(1699-1701)Tac>Cac	p.Y567H	CC2D2A_ENST00000389652.5_Missense_Mutation_p.Y518H|CC2D2A_ENST00000424120.1_Missense_Mutation_p.Y567H|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.Y567H	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	567					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CACGGAGGAGTACGCACAGAA	0.433																																																	0								T	HIS/TYR	1,3993		0,1,1996	91.0	92.0	92.0		1699	4.4	0.0	4		92	0,8338		0,0,4169	no	missense	CC2D2A	NM_001080522.2	83	0,1,6165	CC,CT,TT		0.0,0.025,0.0081	benign	567/1621	15538634	1,12331	1997	4169	6166	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1699T>C	4.37:g.15538634T>C	ENSP00000421809:p.Tyr567His		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271372	0.40194	2.5E-4	0.0	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.58	4.38	0.52667	.	0.143795	0.48767	N	0.000180	T	0.20455	0.0492	L	0.42744	1.35	0.80722	D	1	B;B	0.22800	0.075;0.075	B;B	0.29785	0.107;0.107	T	0.02975	-1.1087	10	0.40728	T	0.16	.	10.7642	0.46283	0.0:0.0771:0.0:0.9229	.	567;518	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	H	567;567;518;518;567;567;518	ENSP00000403465:Y567H;ENSP00000398391:Y567H;ENSP00000422875:Y567H;ENSP00000421809:Y567H;ENSP00000374303:Y518H	ENSP00000374303:Y518H	Y	+	1	0	CC2D2A	15147732	0.991000	0.36638	0.016000	0.15963	0.007000	0.05969	2.446000	0.44908	0.923000	0.37045	0.533000	0.62120	TAC		0.433	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522	
CCR5	1234	hgsc.bcm.edu	37	3	46414947	46414947	+	Missense_Mutation	SNP	G	G	T	rs333|rs562091107|rs112590754	byFrequency	TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:46414947G>T	ENST00000292303.4	+	2	700	c.554G>T	c.(553-555)aGt>aTt	p.S185I	CCR5_ENST00000445772.1_Missense_Mutation_p.S185I|CCR5_ENST00000343801.4_Missense_Mutation_p.S185I|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	185			S -> N (in UGCCR5-145A).		calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTTCCATACAGTCAGTATCAA	0.458																																																	0													138.0	139.0	139.0					3																	46414947		2203	4277	6480	SO:0001583	missense	1234				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.554G>T	3.37:g.46414947G>T	ENSP00000292303:p.Ser185Ile		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	G	4.030	0.003117	0.07866	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.37235	1.21;1.21;1.21	5.3	-8.87	0.00792	GPCR, rhodopsin-like superfamily (1);	2.220010	0.02562	U	0.096813	T	0.24160	0.0585	L	0.35249	1.045	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.20806	-1.0264	10	0.59425	D	0.04	.	6.8575	0.24048	0.6377:0.0845:0.1932:0.0845	.	185	P51681	CCR5_HUMAN	I	185;165;185;185	ENSP00000343985:S185I;ENSP00000292303:S185I;ENSP00000404881:S185I	ENSP00000292303:S185I	S	+	2	0	CCR5	46389951	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.537000	0.02206	-2.214000	0.00734	-0.258000	0.10820	AGT		0.458	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579	
CDH18	1016	hgsc.bcm.edu	37	5	19544098	19544098	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:19544098T>G	ENST00000507958.1	-	11	2260	c.1270A>C	c.(1270-1272)Aat>Cat	p.N424H	CDH18_ENST00000502796.1_Missense_Mutation_p.N424H|CDH18_ENST00000274170.4_Missense_Mutation_p.N424H|CDH18_ENST00000382275.1_Missense_Mutation_p.N424H|CDH18_ENST00000511273.1_Missense_Mutation_p.N424H|CDH18_ENST00000506372.1_Missense_Mutation_p.N424H			Q13634	CAD18_HUMAN	cadherin 18, type 2	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTTCAACATTGTAGTTGATG	0.333																																																	0													89.0	85.0	86.0					5																	19544098		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1270A>C	5.37:g.19544098T>G	ENSP00000425093:p.Asn424His		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	1.810	-0.474972	0.04414	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.44	1.36	0.22044	Cadherin (4);Cadherin-like (1);	0.474466	0.24027	N	0.042240	T	0.30386	0.0763	N	0.10733	0.035	0.31173	N	0.702995	P;B	0.36660	0.564;0.024	P;B	0.46419	0.516;0.034	T	0.30822	-0.9965	9	.	.	.	.	6.3854	0.21558	0.0:0.0855:0.296:0.6185	.	424;424	B4DHG6;Q13634	.;CAD18_HUMAN	H	424;424;424;424;424;424;370;424	ENSP00000371710:N424H;ENSP00000425093:N424H;ENSP00000274170:N424H;ENSP00000424931:N424H;ENSP00000422138:N424H;ENSP00000427383:N370H;ENSP00000425854:N424H	.	N	-	1	0	CDH18	19579855	0.993000	0.37304	0.953000	0.39169	0.895000	0.52256	2.406000	0.44557	0.331000	0.23511	0.482000	0.46254	AAT		0.333	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934	
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172226	64172226	+	Silent	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr18:64172226A>G	ENST00000262150.2	-	12	2434	c.2142T>C	c.(2140-2142)ccT>ccC	p.P714P		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGGAATCAAAAGGAGGGGCAC	0.478																																																	0													123.0	118.0	120.0					18																	64172226		2203	4300	6503	SO:0001819	synonymous_variant	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2142T>C	18.37:g.64172226A>G			O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																				0.478	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1		NM_021153	
CHSY3	337876	hgsc.bcm.edu	37	5	129520699	129520699	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:129520699C>A	ENST00000305031.4	+	3	2222	c.1864C>A	c.(1864-1866)Cac>Aac	p.H622N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	622					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAAGAAAGTACACATTCTCGT	0.358																																																	0													66.0	67.0	66.0					5																	129520699		2203	4300	6503	SO:0001583	missense	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1864C>A	5.37:g.129520699C>A	ENSP00000302629:p.His622Asn		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	0.264	-0.997577	0.02145	.	.	ENSG00000198108	ENST00000305031	T	0.34072	1.38	4.12	2.32	0.28847	.	0.102000	0.42548	N	0.000688	T	0.18676	0.0448	N	0.10645	0.015	0.48975	D	0.999738	B	0.15930	0.015	B	0.19946	0.027	T	0.04635	-1.0937	9	.	.	.	-9.4431	13.4712	0.61283	0.2859:0.7141:0.0:0.0	.	622	Q70JA7	CHSS3_HUMAN	N	622	ENSP00000302629:H622N	.	H	+	1	0	CHSY3	129548598	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.908000	0.56355	0.665000	0.31066	-0.133000	0.14855	CAC		0.358	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1		NM_175856	
CLRN2	645104	hgsc.bcm.edu;ucsc.edu	37	4	17524535	17524535	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:17524535T>C	ENST00000511148.2	+	2	404	c.302T>C	c.(301-303)aTt>aCt	p.I101T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	101						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CATGTGATGATTCTGCTGCTC	0.542																																																	0													138.0	146.0	144.0					4																	17524535		2135	4240	6375	SO:0001583	missense	645104				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.302T>C	4.37:g.17524535T>C	ENSP00000424711:p.Ile101Thr			Missense_Mutation	SNP	ENST00000511148.2	37	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559517	0.45590	.	.	ENSG00000249581	ENST00000511148	T	0.78003	-1.14	4.94	3.76	0.43208	.	0.226336	0.39146	N	0.001452	T	0.74215	0.3687	L	0.59436	1.845	0.48830	D	0.99971	B	0.21147	0.052	B	0.32677	0.15	T	0.66775	-0.5838	10	0.30854	T	0.27	-4.3529	10.048	0.42199	0.0:0.0809:0.0:0.9191	.	101	A0PK11	CLRN2_HUMAN	T	101	ENSP00000424711:I101T	ENSP00000424711:I101T	I	+	2	0	CLRN2	17133633	0.997000	0.39634	0.120000	0.21714	0.945000	0.59286	3.372000	0.52387	0.753000	0.32945	0.383000	0.25322	ATT		0.542	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2		NM_001079827	
COMMD7	149951	hgsc.bcm.edu;ucsc.edu	37	20	31291229	31291229	+	Silent	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr20:31291229C>A	ENST00000278980.6	-	9	1163	c.558G>T	c.(556-558)ctG>ctT	p.L186L	COMMD7_ENST00000446419.2_Silent_p.L185L	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	186	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.L186L(1)		breast(1)|endometrium(1)|lung(3)	5						CCATCTCGTGCAGGAAGCTGT	0.493																																																	1	Substitution - coding silent(1)	lung(1)											87.0	91.0	90.0					20																	31291229		1928	4130	6058	SO:0001819	synonymous_variant	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.558G>T	20.37:g.31291229C>A			A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Silent	SNP	ENST00000278980.6	37	CCDS42864.1																																																																																				0.493	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2		NM_053041	
CT55	54967	hgsc.bcm.edu	37	X	134292203	134292203	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chrX:134292203A>G	ENST00000276241.6	-	4	684	c.458T>C	c.(457-459)gTt>gCt	p.V153A	CXorf48_ENST00000344129.2_Missense_Mutation_p.V153A	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		153										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGAATATTCAACTTCTAACAA	0.398																																																	0													107.0	95.0	99.0					X																	134292203		2203	4300	6503	SO:0001583	missense	54967																														ENST00000276241.6:c.458T>C	X.37:g.134292203A>G	ENSP00000276241:p.Val153Ala		Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	a	0.010	-1.768313	0.00645	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.30182	1.54;1.54	2.21	0.942	0.19525	.	0.817597	0.09988	N	0.730120	T	0.11110	0.0271	N	0.04508	-0.205	0.09310	N	1	P	0.40578	0.722	B	0.38296	0.27	T	0.11203	-1.0597	10	0.09843	T	0.71	-18.447	4.2139	0.10524	0.4847:0.0:0.5153:0.0	.	153	Q8WUE5	CX048_HUMAN	A	153	ENSP00000276241:V153A;ENSP00000343893:V153A	ENSP00000276241:V153A	V	-	2	0	CXorf48	134119869	0.971000	0.33674	0.001000	0.08648	0.011000	0.07611	1.791000	0.38744	0.177000	0.19895	0.231000	0.17811	GTT		0.398	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			
DIAPH1	1729	hgsc.bcm.edu;ucsc.edu	37	5	140905613	140905613	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:140905613A>G	ENST00000398557.4	-	26	3706	c.3566T>C	c.(3565-3567)aTg>aCg	p.M1189T	DIAPH1_ENST00000518047.1_Missense_Mutation_p.M1177T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.M1186T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.M1165T|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000389057.5_Missense_Mutation_p.M1180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.M1132T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.M1190T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.M1181T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1189					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCATTCATGTCTATGAG	0.507																																																	0													296.0	301.0	299.0					5																	140905613		2080	4218	6298	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3566T>C	5.37:g.140905613A>G	ENSP00000381565:p.Met1189Thr		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126435	0.56721	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.80033	-1.33;-1.32;-1.21;-1.33;-1.33;-1.33;-1.32;-1.33	5.0	5.0	0.66597	Actin-binding FH2/DRF autoregulatory (1);	0.048875	0.85682	D	0.000000	T	0.78496	0.4292	M	0.78049	2.395	0.58432	D	0.999997	P;P;P	0.48764	0.915;0.915;0.915	B;B;B	0.36244	0.169;0.22;0.22	T	0.82967	-0.0194	10	0.66056	D	0.02	.	13.9783	0.64285	1.0:0.0:0.0:0.0	.	1179;1180;1189	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	T	1186;1132;1165;1180;1181;1189;1190;1177	ENSP00000373706:M1186T;ENSP00000429282:M1132T;ENSP00000381570:M1165T;ENSP00000373709:M1180T;ENSP00000381572:M1181T;ENSP00000381565:M1189T;ENSP00000253811:M1190T;ENSP00000428268:M1177T	ENSP00000253811:M1190T	M	-	2	0	DIAPH1	140885797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	1.999000	0.58509	0.533000	0.62120	ATG		0.507	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_005219	
DNAH12	201625	hgsc.bcm.edu;ucsc.edu	37	3	57405106	57405106	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:57405106A>G	ENST00000351747.2	-	37	5825	c.5645T>C	c.(5644-5646)aTt>aCt	p.I1882T		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1882	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TGCATAGGTAATACTCAAATC	0.289																																																	0													116.0	98.0	104.0					3																	57405106		692	1591	2283	SO:0001583	missense	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.5645T>C	3.37:g.57405106A>G	ENSP00000295937:p.Ile1882Thr		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	A	13.40	2.226180	0.39300	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.18016	2.24;2.24	6.01	6.01	0.97437	.	.	.	.	.	T	0.22975	0.0555	L	0.55213	1.73	0.80722	D	1	P	0.35493	0.505	B	0.39617	0.305	T	0.01323	-1.1385	9	0.32370	T	0.25	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	1882	Q6ZR08	DYH12_HUMAN	T	1882;1901	ENSP00000295937:I1882T;ENSP00000418137:I1901T	ENSP00000295937:I1882T	I	-	2	0	DNAH12	57380146	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.779000	0.91792	2.307000	0.77673	0.528000	0.53228	ATT		0.289	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_178504	
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56495059	56495059	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr6:56495059A>T	ENST00000361203.3	-	27	3639	c.3632T>A	c.(3631-3633)cTa>cAa	p.L1211Q	DST_ENST00000370769.4_Missense_Mutation_p.L1211Q|DST_ENST00000312431.6_Missense_Mutation_p.L1211Q|DST_ENST00000421834.2_Missense_Mutation_p.L1211Q|DST_ENST00000518935.1_Missense_Mutation_p.L885Q|DST_ENST00000370754.5_Missense_Mutation_p.L1389Q|DST_ENST00000244364.6_Missense_Mutation_p.L885Q|DST_ENST00000446842.2_Missense_Mutation_p.L885Q|DST_ENST00000370788.2_Missense_Mutation_p.L1211Q|DST_ENST00000370765.6_Missense_Mutation_p.L885Q			Q03001	DYST_HUMAN	dystonin	1211					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTACTTATTAGATTCTCAAT	0.313																																																	0													76.0	79.0	78.0					6																	56495059		2202	4295	6497	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3632T>A	6.37:g.56495059A>T	ENSP00000354508:p.Leu1211Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	19.53	3.845626	0.71603	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-0.0;-0.0;0.14;0.94;-1.06;0.11;-0.02;-1.06;-1.06;-1.06;-1.06	5.9	5.9	0.94986	.	0.000000	0.42053	D	0.000775	T	0.78622	0.4312	L	0.40543	1.245	0.30725	N	0.747787	D;D;D;B;P;P;D;P	0.76494	0.99;0.999;0.996;0.129;0.508;0.841;0.99;0.57	P;D;P;B;B;P;P;B	0.85130	0.727;0.997;0.853;0.046;0.395;0.786;0.727;0.274	T	0.76269	-0.3021	9	0.25106	T	0.35	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	1211;1211;1389;885;885;885;1211;885	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Q	885;1389;1211;1211;885;1211;1211;1211;885;1251;885;885	ENSP00000244364:L885Q;ENSP00000359790:L1389Q;ENSP00000359805:L1211Q;ENSP00000400883:L1211Q;ENSP00000393645:L885Q;ENSP00000307959:L1211Q;ENSP00000359824:L1211Q;ENSP00000354508:L1211Q;ENSP00000404924:L885Q;ENSP00000431030:L1251Q;ENSP00000359801:L885Q;ENSP00000431003:L885Q	ENSP00000244364:L885Q	L	-	2	0	DST	56603018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.084000	0.76866	2.264000	0.75181	0.533000	0.62120	CTA		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
ETFB	2109	hgsc.bcm.edu	37	19	51850290	51850290	+	Missense_Mutation	SNP	G	G	A	rs1130426	byFrequency	TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:51850290G>A	ENST00000309244.4	-	5	552	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ETFB_ENST00000354232.4_Missense_Mutation_p.T245M|CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	154			T -> M (in dbSNP:rs1130426). {ECO:0000269|PubMed:10356313, ECO:0000269|PubMed:15498874}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		CCCCTCCAGCGTCACCTGGGA	0.617													G|||	2102	0.419728	0.472	0.451	5008	,	,		19007	0.2887		0.5686	False		,,,				2504	0.3088																0								G	MET/THR,MET/THR	2242,2164	588.3+/-386.9	549,1144,510	58.0	39.0	45.0		734,461	5.2	1.0	19	dbSNP_86	45	4805,3795	611.8+/-395.9	1350,2105,845	yes	missense,missense	ETFB	NM_001014763.1,NM_001985.2	81,81	1899,3249,1355	AA,AG,GG		44.1279,49.1148,45.8173	probably-damaging,probably-damaging	245/347,154/256	51850290	7047,5959	2203	4300	6503	SO:0001583	missense	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.461C>T	19.37:g.51850290G>A	ENSP00000311930:p.Thr154Met		A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	1013	0.46382783882783885	241	0.4898373983739837	178	0.49171270718232046	168	0.2937062937062937	426	0.5620052770448549	G	22.0	4.229291	0.79688	0.508852	0.558721	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.83075	-1.68;-1.68	5.2	5.2	0.72013	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.278610	0.35739	N	0.003016	T	0.00012	0.0000	L	0.55834	1.745	0.26377	P	0.9767906	D;D	0.76494	0.98;0.999	P;P	0.58210	0.696;0.835	T	0.49698	-0.8912	9	0.62326	D	0.03	.	11.6543	0.51309	0.0:0.0:0.8226:0.1773	rs1130426;rs1801446;rs2230253;rs3177751;rs3189246;rs17416267;rs52818865;rs60424048;rs3177751	154;245	P38117;P38117-2	ETFB_HUMAN;.	M	154;245	ENSP00000311930:T154M;ENSP00000346173:T245M	ENSP00000311930:T154M	T	-	2	0	ETFB	56542102	0.996000	0.38824	0.952000	0.39060	0.948000	0.59901	3.682000	0.54656	2.573000	0.86826	0.561000	0.74099	ACG		0.617	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			
HK3	3101	hgsc.bcm.edu	37	5	176308431	176308431	+	Silent	SNP	G	G	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:176308431G>T	ENST00000292432.5	-	18	2590	c.2499C>A	c.(2497-2499)tcC>tcA	p.S833S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	833	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.S833S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCCTCTGGGACACAGCCT	0.667																																																	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											50.0	54.0	53.0					5																	176308431		2203	4300	6503	SO:0001819	synonymous_variant	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2499C>A	5.37:g.176308431G>T			Q8N1E7	Silent	SNP	ENST00000292432.5	37	CCDS4407.1																																																																																				0.667	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32629146	32629146	+	Silent	SNP	G	G	A	rs3210168	byFrequency	TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr6:32629146G>A	ENST00000399084.1	-	5	928	c.750C>T	c.(748-750)atC>atT	p.I250I	HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000374943.4_Silent_p.I250I|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000434651.2_Silent_p.I250I|HLA-DQB1_ENST00000460185.1_5'Flank|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399079.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TTTGACGGATGATAAGGCCCA	0.552									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	1257	0.250998	0.1536	0.4078	5008	,	,		12457	0.3294		0.2396	False		,,,				2504	0.2025				Esophageal Squamous(151;720 1825 15000 40336 43415)												0								A		176,3772		2,172,1800	32.0	29.0	30.0		750	3.1	0.0	6	dbSNP_132	30	451,7403		4,443,3480	no	coding-synonymous	HLA-DQB1	NM_002123.4		6,615,5280	AA,AG,GG		5.7423,4.458,5.3127		250/262	32629146	627,11175	1974	3927	5901	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.750C>T	6.37:g.32629146G>A			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399084.1	37	CCDS43451.1																																																																																				0.552	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1		NM_002123	
ITPKC	80271	hgsc.bcm.edu	37	19	41223765	41223765	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:41223765C>A	ENST00000263370.2	+	1	758	c.725C>A	c.(724-726)aCa>aAa	p.T242K	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	242					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTCCCTGGACAGAGCCATAT	0.493																																																	0													57.0	58.0	57.0					19																	41223765		2203	4300	6503	SO:0001583	missense	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.725C>A	19.37:g.41223765C>A	ENSP00000263370:p.Thr242Lys		Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	C	2.380	-0.342335	0.05243	.	.	ENSG00000086544	ENST00000263370	.	.	.	4.32	-3.6	0.04570	.	1.208150	0.05890	N	0.628124	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.26002	0.139	B	0.16722	0.016	T	0.23476	-1.0187	9	0.05959	T	0.93	0.391	6.1052	0.20069	0.0:0.2288:0.1571:0.614	.	242	Q96DU7	IP3KC_HUMAN	K	242	.	ENSP00000263370:T242K	T	+	2	0	ITPKC	45915605	0.006000	0.16342	0.002000	0.10522	0.086000	0.17979	-0.265000	0.08644	-0.413000	0.07507	0.491000	0.48974	ACA		0.493	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1		NM_025194	
KCNJ12	3768	hgsc.bcm.edu	37	17	21319786	21319786	+	Missense_Mutation	SNP	G	G	A	rs78547883	byFrequency	TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr17:21319786G>A	ENST00000583088.1	+	3	2027	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E378K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	378				E -> K (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.E378K(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CTTCTGCTACGAGAACGAGCT	0.637										Prostate(3;0.18)																																							1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1132G>A	17.37:g.21319786G>A	ENSP00000463778:p.Glu378Lys		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902792	0.92035	.	.	ENSG00000184185	ENST00000331718	D	0.94613	-3.47	5.64	5.64	0.86602	.	0.102713	0.64402	D	0.000004	D	0.97182	0.9079	M	0.85197	2.74	0.80722	D	1	D	0.59767	0.986	P	0.60541	0.876	D	0.96627	0.9464	10	0.44086	T	0.13	.	19.6933	0.96010	0.0:0.0:1.0:0.0	.	378	Q14500	IRK12_HUMAN	K	378	ENSP00000328150:E378K	ENSP00000328150:E378K	E	+	1	0	KCNJ12	21260379	1.000000	0.71417	0.986000	0.45419	0.769000	0.43574	9.689000	0.98673	2.662000	0.90505	0.637000	0.83480	GAG		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
KIAA2022	340533	hgsc.bcm.edu;ucsc.edu	37	X	73962408	73962408	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chrX:73962408C>T	ENST00000055682.6	-	3	2595	c.1984G>A	c.(1984-1986)Gct>Act	p.A662T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	662					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATTACTAGCGTGCCTCTGA	0.398																																																	0													74.0	60.0	65.0					X																	73962408		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1984G>A	X.37:g.73962408C>T	ENSP00000055682:p.Ala662Thr		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278232	0.05679	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32988	1.43;1.43	5.97	1.31	0.21738	.	6.607850	0.00166	N	0.000000	T	0.26738	0.0654	L	0.36672	1.1	0.18873	N	0.999988	B	0.06786	0.001	B	0.06405	0.002	T	0.14727	-1.0462	10	0.31617	T	0.26	1.934	7.0346	0.24987	0.0:0.5296:0.1421:0.3282	.	662	Q5QGS0	K2022_HUMAN	T	662	ENSP00000362567:A662T;ENSP00000055682:A662T	ENSP00000055682:A662T	A	-	1	0	KIAA2022	73879133	0.740000	0.28207	0.006000	0.13384	0.124000	0.20399	1.216000	0.32443	-0.173000	0.10761	0.600000	0.82982	GCT		0.398	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537	
LIMCH1	22998	hgsc.bcm.edu	37	4	41664844	41664844	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:41664844A>C	ENST00000313860.7	+	15	2033	c.1979A>C	c.(1978-1980)cAg>cCg	p.Q660P	LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q660P|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q660P|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q501P|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q501P|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q660P|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q489P|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q494P|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q648P|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1045P|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q494P|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q506P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	660					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAGAACCACAGCATTTTACA	0.438																																																	0													88.0	88.0	88.0					4																	41664844		2203	4300	6503	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1979A>C	4.37:g.41664844A>C	ENSP00000316891:p.Gln660Pro		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.053|9.053	0.992600|0.992600	0.18966|0.18966	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.49139|.	0.83;1.39;1.4;1.4;0.79;1.41;0.8;0.81;0.81;0.81;0.81;0.81|.	5.21|5.21	4.01|4.01	0.46588|0.46588	.|.	0.556047|.	0.18147|.	N|.	0.150231|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.47716|0.47716	1.5|1.5	0.35645|0.35645	D|D	0.811318|0.811318	D;D;P;D;B;D;P;D;P;P;D|.	0.65815|.	0.97;0.962;0.902;0.961;0.12;0.981;0.877;0.975;0.856;0.911;0.995|.	P;P;P;P;B;D;P;P;B;P;P|.	0.76071|.	0.811;0.701;0.63;0.786;0.059;0.987;0.649;0.679;0.424;0.628;0.899|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.44086|.	T|.	0.13|.	-10.5908|-10.5908	8.2901|8.2901	0.31952|0.31952	0.8236:0.0:0.0:0.1764|0.8236:0.0:0.0:0.1764	.|.	411;494;660;494;506;1045;489;648;660;660;660|.	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	P|R	489;660;660;660;660;648;1045;501;1044;501;494;506;494;13|495	ENSP00000425222:Q489P;ENSP00000424825:Q660P;ENSP00000424645:Q660P;ENSP00000316891:Q660P;ENSP00000427045:Q660P;ENSP00000424437:Q648P;ENSP00000425631:Q1045P;ENSP00000421242:Q501P;ENSP00000426334:Q501P;ENSP00000422864:Q494P;ENSP00000379840:Q506P;ENSP00000371172:Q494P|.	ENSP00000316891:Q660P|.	Q|S	+|+	2|1	0|0	LIMCH1|LIMCH1	41359601|41359601	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.001000|0.001000	0.01503|0.01503	4.909000|4.909000	0.63314|0.63314	0.799000|0.799000	0.34018|0.34018	-0.333000|-0.333000	0.08304|0.08304	CAG|AGC		0.438	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2		NM_014988	
MRPL18	29074	hgsc.bcm.edu;ucsc.edu	37	6	160218373	160218373	+	Silent	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr6:160218373T>C	ENST00000367034.4	+	3	416	c.294T>C	c.(292-294)aaT>aaC	p.N98N	PNLDC1_ENST00000610273.1_5'Flank|PNLDC1_ENST00000392167.3_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	98					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		AGCATCAGAATGGCAAGGTTG	0.443																																																	0													136.0	118.0	124.0					6																	160218373		2203	4300	6503	SO:0001819	synonymous_variant	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.294T>C	6.37:g.160218373T>C			Q5TAP9|Q9NZW8	Silent	SNP	ENST00000367034.4	37	CCDS5270.1																																																																																				0.443	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1			
MTOR	2475	hgsc.bcm.edu;ucsc.edu	37	1	11182158	11182158	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:11182158A>C	ENST00000361445.4	-	48	6764	c.6688T>G	c.(6688-6690)Tta>Gta	p.L2230V	MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2230	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTGGTCGATAAAGGGATGACA	0.532																																																	0													117.0	118.0	117.0					1																	11182158		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6688T>G	1.37:g.11182158A>C	ENSP00000354558:p.Leu2230Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320499	0.60634	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.84223	-1.82;-1.82	5.36	1.73	0.24493	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	H	0.96748	3.875	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	10	0.87932	D	0	-22.7057	8.7127	0.34393	0.6089:0.0:0.3911:0.0	.	2230	P42345	MTOR_HUMAN	V	2230;435	ENSP00000354558:L2230V;ENSP00000366034:L435V	ENSP00000354558:L2230V	L	-	1	2	MTOR	11104745	0.610000	0.26983	0.334000	0.25495	0.735000	0.41995	0.660000	0.25009	0.044000	0.15775	0.528000	0.53228	TTA		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
NPR1	4881	hgsc.bcm.edu;ucsc.edu	37	1	153658648	153658648	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:153658648C>A	ENST00000368680.3	+	10	2202	c.1730C>A	c.(1729-1731)aCa>aAa	p.T577K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATTGAGCTGACACGAAAAGTC	0.552																																					Pancreas(141;1349 1870 15144 15830 40702)												0													145.0	118.0	127.0					1																	153658648		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1730C>A	1.37:g.153658648C>A	ENSP00000357669:p.Thr577Lys		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374872	0.82573	.	.	ENSG00000169418	ENST00000368680	D	0.81659	-1.52	3.92	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147360	0.42172	D	0.000757	T	0.77226	0.4099	L	0.45470	1.425	0.80722	D	1	P	0.46220	0.874	P	0.53760	0.734	T	0.77574	-0.2537	10	0.41790	T	0.15	.	13.8251	0.63346	0.0:1.0:0.0:0.0	.	577	P16066	ANPRA_HUMAN	K	577	ENSP00000357669:T577K	ENSP00000357669:T577K	T	+	2	0	NPR1	151925272	0.991000	0.36638	0.940000	0.37924	0.996000	0.88848	2.934000	0.48956	2.191000	0.70037	0.561000	0.74099	ACA		0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1		NM_000906	
PARP8	79668	hgsc.bcm.edu;ucsc.edu	37	5	50093052	50093052	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:50093052T>G	ENST00000281631.5	+	14	1718	c.1560T>G	c.(1558-1560)aaT>aaG	p.N520K	PARP8_ENST00000514342.2_Missense_Mutation_p.N273K|PARP8_ENST00000514067.2_Missense_Mutation_p.N520K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.N499K|PARP8_ENST00000505697.2_Missense_Mutation_p.N520K|PARP8_ENST00000503750.2_Missense_Mutation_p.N520K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	520						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGTTTCAAAATGGCCCTATGC	0.323																																																	0													130.0	117.0	121.0					5																	50093052		2203	4299	6502	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1560T>G	5.37:g.50093052T>G	ENSP00000281631:p.Asn520Lys		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191139	0.58017	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.76	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.43152	1.355	0.58432	D	0.999992	D;D;P	0.63880	0.993;0.989;0.826	D;D;B	0.72982	0.968;0.979;0.292	T	0.57236	-0.7846	8	.	.	.	-25.6327	9.6482	0.39881	0.0:0.1977:0.0:0.8023	.	412;520;520	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	K	520;520;273;520;520;499;273;273	.	.	N	+	3	2	PARP8	50128809	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.756000	0.38390	0.087000	0.17167	0.533000	0.62120	AAT		0.323	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52620674	52620674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:52620674G>A	ENST00000296302.7	-	20	3155	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1020*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1067*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1067*			Q86U86	PB1_HUMAN	polybromo 1	1052	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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.R1052*(3)|p.R1020*(2)		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)		TCCTCATCTCGGAAGTTTTCT	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	5	Substitution - Nonsense(5)	kidney(3)|central_nervous_system(2)											59.0	64.0	62.0					3																	52620674		2203	4300	6503	SO:0001587	stop_gained	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.3154C>T	3.37:g.52620674G>A	ENSP00000296302:p.Arg1052*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.964974	0.97967	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.24	0.945	0.19543	.	0.148125	0.43747	D	0.000526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-38.8081	10.2479	0.43352	0.0:0.1033:0.4046:0.4922	.	.	.	.	X	1020;1027;1052;1052;1052;1027;1067;1067;1051;1010	.	ENSP00000296302:R1052X	R	-	1	2	PBRM1	52595714	0.990000	0.36364	0.995000	0.50966	0.972000	0.66771	0.386000	0.20702	0.160000	0.19432	-0.324000	0.08512	CGA		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PLAG1	5324	hgsc.bcm.edu	37	8	57079842	57079842	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr8:57079842A>T	ENST00000316981.3	-	5	942	c.463T>A	c.(463-465)Tgt>Agt	p.C155S	PLAG1_ENST00000429357.2_Missense_Mutation_p.C155S|PLAG1_ENST00000423799.2_Missense_Mutation_p.C73S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	155	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGCAAACATACCTTACAG	0.463			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													94.0	77.0	83.0					8																	57079842		2203	4300	6503	SO:0001583	missense	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.463T>A	8.37:g.57079842A>T	ENSP00000325546:p.Cys155Ser		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504103	0.64410	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.59906	0.23;1.86;0.23	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88980	0.3407	10	0.87932	D	0	-13.7054	15.6915	0.77457	1.0:0.0:0.0:0.0	.	155	Q6DJT9	PLAG1_HUMAN	S	155;73;155	ENSP00000325546:C155S;ENSP00000404067:C73S;ENSP00000416537:C155S	ENSP00000325546:C155S	C	-	1	0	PLAG1	57242396	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	9.339000	0.96797	2.097000	0.63578	0.477000	0.44152	TGT		0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1		NM_002655	
PLOD2	5352	hgsc.bcm.edu;ucsc.edu	37	3	145804638	145804638	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:145804638T>C	ENST00000360060.3	-	10	1240	c.1063A>G	c.(1063-1065)Aaa>Gaa	p.K355E	PLOD2_ENST00000494950.1_Missense_Mutation_p.K300E|PLOD2_ENST00000282903.5_Missense_Mutation_p.K355E|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_5'Flank	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	355					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTTATAGTTTTGATTTCATGC	0.249																																																	0													43.0	42.0	42.0					3																	145804638		2186	4279	6465	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1063A>G	3.37:g.145804638T>C	ENSP00000353170:p.Lys355Glu		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	7.574	0.667306	0.14710	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.84730	-1.89;-1.89;-1.89	5.34	2.99	0.34606	.	0.635583	0.18464	N	0.140440	T	0.70219	0.3199	L	0.27053	0.805	0.22424	N	0.999112	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12837	0.008;0.001;0.001	T	0.51872	-0.8650	10	0.02654	T	1	-2.7134	7.6828	0.28524	0.0:0.2301:0.0:0.7699	.	300;355;355	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	E	355;355;300	ENSP00000282903:K355E;ENSP00000353170:K355E;ENSP00000420094:K300E	ENSP00000282903:K355E	K	-	1	0	PLOD2	147287328	0.906000	0.30813	0.989000	0.46669	0.950000	0.60333	1.389000	0.34453	0.369000	0.24510	0.402000	0.26972	AAA		0.249	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1		NM_000935	
POLR3B	55703	hgsc.bcm.edu	37	12	106895189	106895189	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr12:106895189C>G	ENST00000228347.4	+	26	3295	c.3073C>G	c.(3073-3075)Cgg>Ggg	p.R1025G	POLR3B_ENST00000539066.1_Missense_Mutation_p.R967G|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1025					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGCCCGGGCCCGGGGCCCACG	0.443																																																	0													43.0	50.0	47.0					12																	106895189		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3073C>G	12.37:g.106895189C>G	ENSP00000228347:p.Arg1025Gly		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158506	0.78114	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.73047	-0.71;-0.71	5.5	3.59	0.41128	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.88842	2.985	0.80722	D	1	P	0.50617	0.937	P	0.57425	0.82	D	0.86904	0.2056	10	0.87932	D	0	-17.1944	13.7121	0.62674	0.3991:0.6009:0.0:0.0	.	1025	Q9NW08	RPC2_HUMAN	G	1025;967	ENSP00000228347:R1025G;ENSP00000445721:R967G	ENSP00000228347:R1025G	R	+	1	2	POLR3B	105419319	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.982000	0.40638	1.281000	0.44480	0.655000	0.94253	CGG		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082	
PPFIA1	8500	hgsc.bcm.edu;ucsc.edu	37	11	70200406	70200406	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr11:70200406G>T	ENST00000253925.7	+	17	2378		c.e17-1		PPFIA1_ENST00000389547.3_Splice_Site|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCACCCCTCAGTTGCCACCTT	0.478																																																	0													75.0	72.0	73.0					11																	70200406		2200	4294	6494	SO:0001630	splice_region_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2164-1G>T	11.37:g.70200406G>T			A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005939	0.19199	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528750	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1276	0.89591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA1	69878054	1.000000	0.71417	0.983000	0.44433	0.228000	0.25075	8.413000	0.90235	2.526000	0.85167	0.561000	0.74099	.		0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626	Intron
PRKCZ	5590	hgsc.bcm.edu;ucsc.edu	37	1	2077494	2077494	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:2077494C>T	ENST00000400921.2	+	4	715	c.32C>T	c.(31-33)cCa>cTa	p.P11L	RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000400920.1_Missense_Mutation_p.P11L|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	194					actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CAAGAGCCTCCAGTAGACGAC	0.552																																																	0													89.0	74.0	79.0					1																	2077494		2203	4300	6503	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.32C>T	1.37:g.2077494C>T	ENSP00000383712:p.Pro11Leu		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578758	0.28180	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000400921;ENST00000495347;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000466352;ENST00000497183	T;D;T;T;T;T;T;T;T	0.88509	-0.33;-2.39;-0.14;-0.33;1.63;-0.14;0.42;1.05;1.06	5.04	4.05	0.47172	.	0.455201	0.23420	N	0.048378	T	0.72195	0.3430	N	0.08118	0	0.36190	D	0.849999	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.67225	-0.5724	10	0.08837	T	0.75	.	7.043	0.25031	0.4082:0.4622:0.1296:0.0	.	90;18;194	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	L	194;164;11;11;90;11;11;11;11;7;11;11;11;11;7	ENSP00000367830:P194L;ENSP00000424945:P164L;ENSP00000383712:P11L;ENSP00000426412:P90L;ENSP00000424228:P11L;ENSP00000383711:P11L;ENSP00000424763:P7L;ENSP00000421219:P11L;ENSP00000422764:P7L	ENSP00000367830:P194L	P	+	2	0	PRKCZ	2067354	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.390000	0.34464	2.348000	0.79779	0.462000	0.41574	CCA		0.552	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3		NM_002744	
PRODH2	58510	hgsc.bcm.edu	37	19	36303154	36303154	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:36303154T>C	ENST00000301175.3	-	4	637	c.620A>G	c.(619-621)aAc>aGc	p.N207S		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	207					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCACCGAGGTTCCCCTCATA	0.687																																																	0													74.0	72.0	73.0					19																	36303154		2203	4299	6502	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.620A>G	19.37:g.36303154T>C	ENSP00000301175:p.Asn207Ser			Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604796	0.66445	.	.	ENSG00000250799	ENST00000301175	T	0.27256	1.68	5.34	5.34	0.76211	.	.	.	.	.	T	0.43299	0.1241	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.58331	0.837	T	0.33752	-0.9856	9	0.17832	T	0.49	.	13.2741	0.60178	0.0:0.0:0.0:1.0	.	207	Q9UF12	PROD2_HUMAN	S	207	ENSP00000301175:N207S	ENSP00000301175:N207S	N	-	2	0	PRODH2	40994994	1.000000	0.71417	0.988000	0.46212	0.246000	0.25737	6.285000	0.72658	2.018000	0.59344	0.528000	0.53228	AAC		0.687	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2		NM_021232	
PTGFRN	5738	hgsc.bcm.edu	37	1	117484595	117484595	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:117484595A>G	ENST00000393203.2	+	2	455	c.308A>G	c.(307-309)gAg>gGg	p.E103G		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	103	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACGCCGTGGAGCTCCACATA	0.587																																																	0													104.0	95.0	98.0					1																	117484595		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.308A>G	1.37:g.117484595A>G	ENSP00000376899:p.Glu103Gly		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853325	0.71719	.	.	ENSG00000134247	ENST00000393203	T	0.02682	4.2	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109676	0.64402	D	0.000010	T	0.04407	0.0121	L	0.53249	1.67	0.41529	D	0.988444	D	0.89917	1.0	D	0.77557	0.99	T	0.52990	-0.8501	10	0.21014	T	0.42	-38.62	8.5845	0.33649	0.8284:0.0:0.0:0.1716	.	103	Q9P2B2	FPRP_HUMAN	G	103	ENSP00000376899:E103G	ENSP00000376899:E103G	E	+	2	0	PTGFRN	117286118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.529000	0.60588	2.058000	0.61347	0.383000	0.25322	GAG		0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1		NM_020440	
RPAP1	26015	hgsc.bcm.edu;ucsc.edu	37	15	41810335	41810335	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr15:41810335G>C	ENST00000304330.4	-	23	3957	c.3841C>G	c.(3841-3843)Ctg>Gtg	p.L1281V	RPAP1_ENST00000561603.1_Silent_p.T1028T	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1281	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGAGGGCCAGGTTGTCTTCA	0.562																																																	0													91.0	71.0	78.0					15																	41810335		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3841C>G	15.37:g.41810335G>C	ENSP00000306123:p.Leu1281Val		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525697	0.64860	.	.	ENSG00000103932	ENST00000304330	T	0.12147	2.71	5.23	3.38	0.38709	.	0.000000	0.64402	D	0.000001	T	0.17746	0.0426	L	0.45228	1.405	0.39724	D	0.971514	B	0.33000	0.393	B	0.42738	0.396	T	0.05550	-1.0878	10	0.87932	D	0	-13.312	10.7754	0.46346	0.2107:0.0:0.7893:0.0	.	1281	Q9BWH6	RPAP1_HUMAN	V	1281	ENSP00000306123:L1281V	ENSP00000306123:L1281V	L	-	1	2	RPAP1	39597627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.796000	0.38794	0.793000	0.33875	0.655000	0.94253	CTG		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540	
TAF15	8148	hgsc.bcm.edu	37	17	34171885	34171885	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr17:34171885C>A	ENST00000592237.1	+	18	1525	c.996C>A	c.(994-996)acC>acA	p.T332T	TAF15_ENST00000311979.3_Silent_p.R525R|TAF15_ENST00000588240.1_Silent_p.R528R			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTA	0.607			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	0													73.0	78.0	76.0					17																	34171885		2203	4300	6503	SO:0001630	splice_region_variant	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.995-1C>A	17.37:g.34171885C>A			D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000592237.1	37																																																																																					0.607	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1		NM_139215	Silent
THAP9	79725	hgsc.bcm.edu	37	4	83838547	83838547	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:83838547C>G	ENST00000302236.5	+	5	1233	c.1182C>G	c.(1180-1182)gaC>gaG	p.D394E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	394					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATGGAGACGACATGAAATGTA	0.393																																																	0													113.0	103.0	107.0					4																	83838547		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1182C>G	4.37:g.83838547C>G	ENSP00000305533:p.Asp394Glu		B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	0.325	-0.959480	0.02267	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90004	-2.6	3.27	0.604	0.17547	.	1.521620	0.04126	N	0.317148	T	0.75339	0.3836	N	0.14661	0.345	0.47183	D	0.99934	B	0.13145	0.007	B	0.09377	0.004	T	0.66176	-0.5989	10	0.05721	T	0.95	-7.5132	3.7015	0.08384	0.0:0.4396:0.211:0.3494	.	394	Q9H5L6	THAP9_HUMAN	E	394	ENSP00000305533:D394E	ENSP00000305533:D394E	D	+	3	2	THAP9	84057571	0.993000	0.37304	0.768000	0.31515	0.004000	0.04260	0.169000	0.16641	0.076000	0.16826	-0.143000	0.13931	GAC		0.393	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1		NM_024672	
TNR	7143	hgsc.bcm.edu;ucsc.edu	37	1	175293500	175293500	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:175293500G>T	ENST00000367674.2	-	22	4657	c.3949C>A	c.(3949-3951)Cac>Aac	p.H1317N	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.H1317N			Q92752	TENR_HUMAN	tenascin R	1317	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTGACTGTGCCTGGACTCC	0.498																																																	0													182.0	132.0	149.0					1																	175293500		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3949C>A	1.37:g.175293500G>T	ENSP00000356646:p.His1317Asn		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119474	0.94385	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.76316	-1.01;-1.01	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.053822	0.64402	D	0.000001	D	0.87313	0.6146	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	D	0.87020	0.2128	10	0.54805	T	0.06	.	19.3551	0.94408	0.0:0.0:1.0:0.0	.	1317	Q92752	TENR_HUMAN	N	1317;1317;1227	ENSP00000356646:H1317N;ENSP00000263525:H1317N	ENSP00000263525:H1317N	H	-	1	0	TNR	173560123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.731000	0.98807	2.666000	0.90696	0.655000	0.94253	CAC		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
TULP3	7289	hgsc.bcm.edu	37	12	3029963	3029963	+	Missense_Mutation	SNP	G	G	C	rs529548720		TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr12:3029963G>C	ENST00000448120.2	+	3	179	c.128G>C	c.(127-129)cGc>cCc	p.R43P	TULP3_ENST00000397132.2_Missense_Mutation_p.R43P	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	43	Required for association with the IFT complex A (IFT-A).				anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGGAAAAAGCGCCTTGAGCCA	0.498																																																	0													99.0	97.0	97.0					12																	3029963		2203	4300	6503	SO:0001583	missense	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.128G>C	12.37:g.3029963G>C	ENSP00000410051:p.Arg43Pro		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474941	0.84640	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.96041	-3.74;-3.89	5.32	5.32	0.75619	Tubby, N-terminal (1);	0.047801	0.85682	D	0.000000	D	0.97785	0.9273	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.98516	1.0621	10	0.87932	D	0	-12.3139	15.7158	0.77667	0.0:0.0:1.0:0.0	.	43;43	O75386;F8WBZ9	TULP3_HUMAN;.	P	24;43;43;43	ENSP00000410051:R43P;ENSP00000380321:R43P	ENSP00000228245:R43P	R	+	2	0	TULP3	2900224	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.565000	0.82337	2.501000	0.84356	0.655000	0.94253	CGC		0.498	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1		NM_003324	
ZNF804A	91752	hgsc.bcm.edu	37	2	185802211	185802211	+	Missense_Mutation	SNP	C	C	A	rs5836928|rs3046266	byFrequency	TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr2:185802211C>A	ENST00000302277.6	+	4	2682	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	696							metal ion binding (GO:0046872)	p.N696K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTAAAAAGAACACAATACTTT	0.289																																																	1	Substitution - Missense(1)	ovary(1)											73.0	68.0	70.0					2																	185802211		2194	4291	6485	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2088C>A	2.37:g.185802211C>A	ENSP00000303252:p.Asn696Lys		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663251	0.29515	.	.	ENSG00000170396	ENST00000302277	T	0.06068	3.35	5.63	3.8	0.43715	.	0.582383	0.16465	N	0.213215	T	0.06325	0.0163	L	0.46157	1.445	0.09310	N	1	B	0.24258	0.1	B	0.24541	0.054	T	0.29243	-1.0018	10	0.42905	T	0.14	-1.8543	4.6402	0.12545	0.1573:0.6004:0.0:0.2423	.	696	Q7Z570	Z804A_HUMAN	K	696	ENSP00000303252:N696K	ENSP00000303252:N696K	N	+	3	2	ZNF804A	185510456	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-0.003000	0.12901	1.353000	0.45828	0.655000	0.94253	AAC		0.289	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250	
