#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
RRM1	6240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	4159521	4159521	+	Missense_Mutation	SNP	G	G	A	rs112706528		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:4159521G>A	ENST00000300738.5	+	19	2491	c.2287G>A	c.(2287-2289)Gta>Ata	p.V763I	RRM1_ENST00000423050.2_Missense_Mutation_p.V666I|RRM1_ENST00000537197.1_Missense_Mutation_p.V425I|RRM1-AS1_ENST00000529323.1_RNA|RRM1_ENST00000534285.1_Missense_Mutation_p.V541I	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	763					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAAGAAAAGGTATCAAAAGA	0.418																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											0													84.0	83.0	83.0					11																	4159521		2201	4298	6499	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.2287G>A	11.37:g.4159521G>A	ENSP00000300738:p.Val763Ile		Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153711	0.06585	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.42	-2.46	0.06461	.	0.740801	0.13368	N	0.393120	T	0.12817	0.0311	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15809	-1.0424	10	0.32370	T	0.25	-0.134	4.3243	0.11032	0.4059:0.0:0.3534:0.2407	.	763	P23921	RIR1_HUMAN	I	763;666;676;541;541;425	ENSP00000300738:V763I;ENSP00000390539:V666I;ENSP00000431464:V541I;ENSP00000442148:V425I	ENSP00000300738:V763I	V	+	1	0	RRM1	4116097	0.001000	0.12720	0.278000	0.24718	0.107000	0.19398	-0.053000	0.11846	-0.853000	0.04136	-2.205000	0.00302	GTA		0.418	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		17	58	17	58
OR4S1	256148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	48328354	48328354	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:48328354G>T	ENST00000319988.1	+	1	580	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTACATGGTAGGTCTCATCGT	0.453																																																0													171.0	137.0	149.0					11																	48328354		2201	4298	6499	SO:0001583	missense	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.580G>T	11.37:g.48328354G>T	ENSP00000321447:p.Gly194Cys		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615987	0.46631	.	.	ENSG00000176555	ENST00000319988	T	0.00130	8.69	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00524	0.0017	M	0.88105	2.93	0.27964	N	0.936669	D	0.89917	1.0	D	0.76071	0.987	T	0.26121	-1.0112	9	0.87932	D	0	.	10.0859	0.42417	0.0961:0.0:0.9039:0.0	.	194	Q8NGB4	OR4S1_HUMAN	C	194	ENSP00000321447:G194C	ENSP00000321447:G194C	G	+	1	0	OR4S1	48284930	0.469000	0.25846	0.244000	0.24202	0.676000	0.39594	3.271000	0.51608	1.220000	0.43490	0.655000	0.94253	GGT		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		43	65	43	65
OR8K1	390157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56113589	56113589	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:56113589C>A	ENST00000279783.2	+	1	169	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGATTACAGACAACCCTGGGC	0.443										HNSCC(65;0.19)																																						0													113.0	105.0	108.0					11																	56113589		2201	4296	6497	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.75C>A	11.37:g.56113589C>A	ENSP00000279783:p.Asp25Glu		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891064	0.52014	.	.	ENSG00000150261	ENST00000279783	T	0.00428	7.44	5.18	-0.332	0.12675	.	0.513748	0.17875	N	0.159045	T	0.00241	0.0007	L	0.39397	1.21	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.47407	-0.9120	10	0.45353	T	0.12	-3.6811	1.1517	0.01787	0.2285:0.3998:0.1112:0.2606	.	25	Q8NGG5	OR8K1_HUMAN	E	25	ENSP00000279783:D25E	ENSP00000279783:D25E	D	+	3	2	OR8K1	55870165	0.000000	0.05858	0.000000	0.03702	0.775000	0.43874	-1.856000	0.01662	-0.050000	0.13356	-0.275000	0.10095	GAC		0.443	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		21	73	21	73
ZNF202	7753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	123601198	123601198	+	Silent	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:123601198C>A	ENST00000529691.1	-	2	618	c.399G>T	c.(397-399)cgG>cgT	p.R133R	ZNF202_ENST00000336139.4_Silent_p.R133R|ZNF202_ENST00000530393.1_Silent_p.R133R			O95125	ZN202_HUMAN	zinc finger protein 202	133					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCTCACCCACCGCCTTGGTC	0.582																																																0													114.0	103.0	107.0					11																	123601198		2202	4299	6501	SO:0001819	synonymous_variant	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.399G>T	11.37:g.123601198C>A			B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	CCDS8443.1																																																																																				0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		40	96	40	96
FGF6	2251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	4553372	4553372	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:4553372C>T	ENST00000228837.2	-	2	420	c.377G>A	c.(376-378)gGc>gAc	p.G126D		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	126					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACTCACCACGCCTCGCTCCAC	0.542																																																0													87.0	71.0	77.0					12																	4553372		2203	4300	6503	SO:0001583	missense	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.377G>A	12.37:g.4553372C>T	ENSP00000228837:p.Gly126Asp		Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799404	0.70567	.	.	ENSG00000111241	ENST00000543077;ENST00000228837	D;T	0.88354	-2.37;1.2	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97934	1.0322	10	0.87932	D	0	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	126	P10767	FGF6_HUMAN	D	5;126	ENSP00000445479:G5D;ENSP00000228837:G126D	ENSP00000228837:G126D	G	-	2	0	FGF6	4423633	1.000000	0.71417	0.982000	0.44146	0.829000	0.46940	7.794000	0.85869	2.659000	0.90383	0.561000	0.74099	GGC		0.542	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		24	52	24	52
PKP2	5318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	32974416	32974416	+	Silent	SNP	G	G	A	rs368325383		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:32974416G>A	ENST00000070846.6	-	10	2043	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	PKP2_ENST00000340811.4_Silent_p.G629G	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	673			G -> V (in a patient with arrhythmogenic right ventricular cardiomyopathy). {ECO:0000269|PubMed:19955750}.		adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCACTCCACGCCCTTGGGGT	0.493																																																0								G	,	0,4406		0,0,2203	87.0	75.0	79.0		1887,2019	-5.7	0.9	12		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PKP2	NM_001005242.2,NM_004572.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	629/838,673/882	32974416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2019C>T	12.37:g.32974416G>A			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	CCDS8731.1																																																																																				0.493	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		23	79	23	79
NOS1	4842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	117705872	117705872	+	Silent	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:117705872A>G	ENST00000338101.4	-	10	1921	c.1917T>C	c.(1915-1917)aaT>aaC	p.N639N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.N639N			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAACCGCGATATTGATCTCCA	0.512																																					Esophageal Squamous(162;1748 2599 51982 52956)											0													91.0	92.0	92.0					12																	117705872		1923	4130	6053	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1917T>C	12.37:g.117705872A>G				Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.512	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			33	79	33	79
TP53BP1	7158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	43714318	43714318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr15:43714318C>A	ENST00000263801.3	-	19	4072	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E1279*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1274					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTGGCTCTTCAGTCTCCTGC	0.433								Other conserved DNA damage response genes																																								0													70.0	74.0	72.0					15																	43714318		2201	4298	6499	SO:0001587	stop_gained	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3820G>T	15.37:g.43714318C>A	ENSP00000263801:p.Glu1274*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	43	10.262352	0.99370	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.7288	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	1274;1279;1279;1279	.	ENSP00000263801:E1274X	E	-	1	0	TP53BP1	41501610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.536000	0.82023	2.894000	0.99253	0.655000	0.94253	GAA		0.433	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			31	64	31	64
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	29563007	29563007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:29563007G>A	ENST00000358273.4	+	29	4325	c.3942G>A	c.(3940-3942)tgG>tgA	p.W1314*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1314*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1314	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTCTGATTGGCAACATGTTA	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	GRCh37	CM971045	NF1	M							138.0	129.0	132.0					17																	29563007		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3942G>A	17.37:g.29563007G>A	ENSP00000351015:p.Trp1314*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	47	13.056461	0.99716	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	.	.	.	X	1314;1314;980	.	ENSP00000348498:W1314X	W	+	3	0	NF1	26587133	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.842000	0.86851	2.868000	0.98415	0.557000	0.71058	TGG		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		36	48	36	48
SPACA3	124912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	31323997	31323997	+	Missense_Mutation	SNP	C	C	A	rs370908916		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:31323997C>A	ENST00000269053.3	+	3	550	c.480C>A	c.(478-480)aaC>aaA	p.N160K	SPACA3_ENST00000394638.1_Missense_Mutation_p.N57K|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.N91K	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	160					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ACGTCCCCAACGTGTGCCGGA	0.582																																																0													87.0	76.0	80.0					17																	31323997		2203	4300	6503	SO:0001583	missense	124912			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.480C>A	17.37:g.31323997C>A	ENSP00000269053:p.Asn160Lys		Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725775	0.48833	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.72615	-0.67;-0.67	4.71	0.053	0.14305	Lysozyme-like domain (1);	0.067472	0.53938	N	0.000047	T	0.76800	0.4038	M	0.67625	2.065	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.74231	-0.3732	10	0.87932	D	0	-8.2567	1.4801	0.02435	0.1697:0.466:0.1654:0.1989	.	160	Q8IXA5	SACA3_HUMAN	K	160;57;161;68	ENSP00000269053:N160K;ENSP00000378134:N57K	ENSP00000269053:N160K	N	+	3	2	SPACA3	28348110	0.057000	0.20700	0.000000	0.03702	0.019000	0.09904	0.151000	0.16283	-5.926000	0.00008	-0.816000	0.03127	AAC		0.582	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		36	45	36	45
SERPINB3	6317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	61326675	61326675	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:61326675G>A	ENST00000283752.5	-	4	452	c.309C>T	c.(307-309)atC>atT	p.I103I	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.I103I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	103					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTGTTGGCGATCTTCAGCT	0.398																																																0													163.0	157.0	159.0					18																	61326675		2203	4300	6503	SO:0001819	synonymous_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.309C>T	18.37:g.61326675G>A			A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	CCDS11987.1																																																																																				0.398	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		28	96	28	96
UNC13A	23025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	17778978	17778978	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:17778978C>A	ENST00000519716.2	-	6	415	c.416G>T	c.(415-417)cGc>cTc	p.R139L	UNC13A_ENST00000550896.1_Missense_Mutation_p.R139L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R139L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R139L|UNC13A_ENST00000552293.1_Missense_Mutation_p.R139L|UNC13A_ENST00000428389.2_Missense_Mutation_p.R227L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	139					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCCCAGTAGCGAGCCTCCTC	0.582																																																0													77.0	79.0	78.0					19																	17778978		2011	4186	6197	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.416G>T	19.37:g.17778978C>A	ENSP00000429562:p.Arg139Leu		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306294	0.40795	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.38	4.38	0.52667	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.57169	0.2035	L	0.51422	1.61	0.37478	D	0.915885	P	0.35894	0.526	B	0.27262	0.078	T	0.65492	-0.6155	10	0.41790	T	0.15	-14.5696	14.4334	0.67266	0.0:1.0:0.0:0.0	.	139	Q9UPW8	UN13A_HUMAN	L	139;227;139;139;139;139	ENSP00000429562:R139L;ENSP00000400409:R227L;ENSP00000252773:R139L;ENSP00000447236:R139L;ENSP00000447572:R139L;ENSP00000446831:R139L	ENSP00000252773:R139L	R	-	2	0	UNC13A	17639978	0.985000	0.35326	0.980000	0.43619	0.789000	0.44602	4.748000	0.62148	1.995000	0.58328	0.561000	0.74099	CGC		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		13	34	13	34
PLCH2	9651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:2411404G>A	ENST00000419816.2	+	3	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H|PLCH2_ENST00000449969.1_Missense_Mutation_p.R141H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	168					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687																																																0													24.0	28.0	27.0					1																	2411404		2112	4183	6295	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.503G>A	1.37:g.2411404G>A	ENSP00000389803:p.Arg168His		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996538	0.93167	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.45668	0.89;0.89;0.89	4.92	4.92	0.64577	.	1.134970	0.07106	N	0.841378	T	0.60418	0.2267	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51585	-0.8687	10	0.52906	T	0.07	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	168	O75038	PLCH2_HUMAN	H	141;168;168;15	ENSP00000397289:R141H;ENSP00000367747:R168H;ENSP00000367749:R168H	ENSP00000341313:R15H	R	+	2	0	PLCH2	2401264	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.121000	0.94375	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		22	58	22	58
AADACL4	343066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	12711261	12711261	+	Silent	SNP	G	G	A	rs539452254		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:12711261G>A	ENST00000376221.1	+	2	288	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	96						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTTTGGGACGATACCCGTGA	0.517																																																0													82.0	80.0	81.0					1																	12711261		2203	4300	6503	SO:0001819	synonymous_variant	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.288G>A	1.37:g.12711261G>A				Silent	SNP	ENST00000376221.1	37	CCDS30590.1																																																																																				0.517	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		33	56	33	56
ZNF362	149076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	33745746	33745746	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:33745746C>T	ENST00000539719.1	+	5	541	c.371C>T	c.(370-372)aCc>aTc	p.T124I	ZNF362_ENST00000373428.5_Missense_Mutation_p.T124I	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCACCCGGACCCCGTCTGTG	0.682																																					Pancreas(162;1431 2676 35353 38425)											0													26.0	33.0	31.0					1																	33745746		2201	4295	6496	SO:0001583	missense	149076				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.371C>T	1.37:g.33745746C>T	ENSP00000446335:p.Thr124Ile		Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510647	0.64522	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.08008	3.14;3.14	6.03	6.03	0.97812	.	1.288130	0.05766	N	0.605906	T	0.12433	0.0302	L	0.44542	1.39	0.48087	D	0.999582	B	0.23058	0.079	B	0.18263	0.021	T	0.25572	-1.0128	10	0.31617	T	0.26	-21.228	16.0569	0.80812	0.0:1.0:0.0:0.0	.	124	Q5T0B9	ZN362_HUMAN	I	111;124;124	ENSP00000446335:T124I;ENSP00000362527:T124I	ENSP00000362527:T124I	T	+	2	0	ZNF362	33518333	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.993000	0.70616	2.861000	0.98227	0.655000	0.94253	ACC		0.682	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		12	61	12	61
DAB1	1600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	57756661	57756661	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:57756661G>A	ENST00000371231.1	-	1	76	c.42C>T	c.(40-42)agC>agT	p.S14S	DAB1_ENST00000439789.2_Silent_p.S14S|DAB1_ENST00000371234.4_Silent_p.S14S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Silent_p.S14S|DAB1_ENST00000420954.2_Silent_p.S14S|DAB1_ENST00000371236.2_Silent_p.S14S|DAB1_ENST00000414851.2_Silent_p.S14S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	14					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTGGCGCTGGTTTTCA	0.443																																																0													148.0	137.0	141.0					1																	57756661		2203	4300	6503	SO:0001819	synonymous_variant	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.42C>T	1.37:g.57756661G>A			A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37																																																																																					0.443	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		30	81	30	81
CDC14A	8556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	100818540	100818540	+	Silent	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:100818540G>T	ENST00000336454.3	+	1	385	c.30G>T	c.(28-30)ggG>ggT	p.G10G	CDC14A_ENST00000370125.2_Silent_p.G10G|CDC14A_ENST00000361544.6_Silent_p.G10G|CDC14A_ENST00000544534.1_Silent_p.G10G|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Silent_p.G10G	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	10	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACTAATCGGGGCTTGTGAGT	0.627																																																0													92.0	84.0	87.0					1																	100818540		2203	4300	6503	SO:0001819	synonymous_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.30G>T	1.37:g.100818540G>T			A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																				0.627	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		21	56	21	56
TRPC4AP	26133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	33657162	33657162	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:33657162C>A	ENST00000252015.2	-	3	440	c.351G>T	c.(349-351)agG>agT	p.R117S	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R117S|TRPC4AP_ENST00000432634.2_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	117	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTAAGTTTCCTCTCTTCAG	0.333																																																0													129.0	130.0	129.0					20																	33657162		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.351G>T	20.37:g.33657162C>A	ENSP00000252015:p.Arg117Ser		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485873	0.44147	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000541994	.	.	.	5.5	1.4	0.22301	.	0.040777	0.85682	D	0.000000	T	0.32041	0.0816	L	0.27053	0.805	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.30401	0.115;0.115	T	0.07790	-1.0754	9	0.44086	T	0.13	.	9.0011	0.36083	0.0:0.6205:0.0:0.3795	.	117;117	E1P5Q0;Q8TEL6	.;TP4AP_HUMAN	S	117;117;102	.	ENSP00000252015:R117S	R	-	3	2	TRPC4AP	33120823	0.973000	0.33851	1.000000	0.80357	0.996000	0.88848	0.093000	0.15086	0.446000	0.26666	0.555000	0.69702	AGG		0.333	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		15	108	15	108
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	57829784	57829784	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:57829784G>A	ENST00000371030.2	+	5	5020	c.5020G>A	c.(5020-5022)Gtt>Att	p.V1674I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1674							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACCGATTAGTTATAGAAAT	0.443																																																0													49.0	47.0	48.0					20																	57829784		1903	4126	6029	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.5020G>A	20.37:g.57829784G>A	ENSP00000360069:p.Val1674Ile		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252106	0.59212	.	.	ENSG00000124203	ENST00000371030	T	0.12569	2.67	5.66	5.66	0.87406	.	0.000000	0.46758	D	0.000263	T	0.36276	0.0961	M	0.66939	2.045	0.33940	D	0.643121	D	0.76494	0.999	D	0.78314	0.991	T	0.47812	-0.9088	10	0.87932	D	0	-22.1498	15.2536	0.73568	0.0:0.0:1.0:0.0	.	1674	Q5JPB2	ZN831_HUMAN	I	1674	ENSP00000360069:V1674I	ENSP00000360069:V1674I	V	+	1	0	ZNF831	57263179	1.000000	0.71417	0.917000	0.36280	0.778000	0.44026	5.937000	0.70162	2.673000	0.90976	0.650000	0.86243	GTT		0.443	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		15	91	15	91
ANTXR1	84168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	69409664	69409664	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:69409664A>G	ENST00000303714.4	+	16	1547	c.1225A>G	c.(1225-1227)Aag>Gag	p.K409E	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	409					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAAGGTGCTAAGTTGGAAAA	0.433									Familial Infantile Hemangioma																																							0													119.0	112.0	114.0					2																	69409664		2203	4300	6503	SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1225A>G	2.37:g.69409664A>G	ENSP00000301945:p.Lys409Glu		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863736	0.71949	.	.	ENSG00000169604	ENST00000303714	T	0.79749	-1.3	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89518	0.3776	10	0.66056	D	0.02	-22.692	14.6042	0.68466	1.0:0.0:0.0:0.0	.	409	Q9H6X2	ANTR1_HUMAN	E	409	ENSP00000301945:K409E	ENSP00000301945:K409E	K	+	1	0	ANTXR1	69263168	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.509000	0.90529	2.235000	0.73313	0.459000	0.35465	AAG		0.433	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		24	52	24	52
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	198273241	198273241	+	Silent	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:198273241A>G	ENST00000335508.6	-	8	1060	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	323	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGTTTCACCAATAGAATCTC	0.468			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													80.0	84.0	82.0					2																	198273241		2203	4300	6503	SO:0001819	synonymous_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.969T>C	2.37:g.198273241A>G			E9PCH3	Silent	SNP	ENST00000335508.6	37	CCDS33356.1																																																																																				0.468	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			31	82	31	82
VGLL3	389136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	87027678	87027678	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr3:87027678C>T	ENST00000398399.2	-	2	764	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.R134Q	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCTTACCTCGCCATAGGGG	0.502																																																0													102.0	98.0	99.0					3																	87027678		1885	4114	5999	SO:0001583	missense	389136			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.401G>A	3.37:g.87027678C>T	ENSP00000381436:p.Arg134Gln			Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269379	0.80469	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.48836	0.84;0.8	5.28	5.28	0.74379	.	0.069103	0.56097	D	0.000026	T	0.56761	0.2007	M	0.70275	2.135	0.37889	D	0.930651	D	0.69078	0.997	P	0.51415	0.669	T	0.66276	-0.5964	10	0.66056	D	0.02	-12.8909	12.28	0.54759	0.0:0.9221:0.0:0.0779	.	134	A8MV65	VGLL3_HUMAN	Q	134	ENSP00000381436:R134Q;ENSP00000373199:R134Q	ENSP00000373199:R134Q	R	-	2	0	VGLL3	87110368	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.161000	0.58170	2.463000	0.83235	0.561000	0.74099	CGA		0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		37	113	37	113
PDE6B	5158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	619541	619541	+	Silent	SNP	G	G	A	rs533513647	byFrequency	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:619541G>A	ENST00000496514.1	+	1	147	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PDE6B_ENST00000255622.6_Silent_p.P42P			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	42					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGTGCCCGCCGGACTGCGACA	0.642													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15755	0.0		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)											0													39.0	42.0	41.0					4																	619541		2203	4300	6503	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.126G>A	4.37:g.619541G>A			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	CCDS33932.1																																																																																				0.642	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		18	41	18	41
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	85612794	85612794	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:85612794T>A	ENST00000295888.4	-	60	9601	c.9194A>T	c.(9193-9195)gAg>gTg	p.E3065V	WDFY3_ENST00000322366.6_Missense_Mutation_p.E3048V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3065	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTCTGACTCATAGGTTCC	0.438																																																0													121.0	108.0	112.0					4																	85612794		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9194A>T	4.37:g.85612794T>A	ENSP00000295888:p.Glu3065Val		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889972	0.91889	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.34667	1.35;1.35	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049631	0.85682	D	0.000000	T	0.41305	0.1153	L	0.59436	1.845	0.80722	D	1	P	0.38677	0.642	B	0.40534	0.332	T	0.40421	-0.9564	10	0.66056	D	0.02	.	15.9079	0.79445	0.0:0.0:0.0:1.0	.	3065	Q8IZQ1	WDFY3_HUMAN	V	3048;3065	ENSP00000318466:E3048V;ENSP00000295888:E3065V	ENSP00000295888:E3065V	E	-	2	0	WDFY3	85831818	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.213000	0.71641	0.528000	0.53228	GAG		0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		35	64	35	64
FSTL5	56884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	162463805	162463805	+	Silent	SNP	T	T	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:162463805T>C	ENST00000306100.5	-	9	1492	c.1056A>G	c.(1054-1056)agA>agG	p.R352R	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.R351R|FSTL5_ENST00000536695.1_Silent_p.R351R|FSTL5_ENST00000427802.2_Silent_p.R351R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	352	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCCAGGCTCTCTAGCCTGAC	0.423																																																0													73.0	73.0	73.0					4																	162463805		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1056A>G	4.37:g.162463805T>C			E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	CCDS3802.1																																																																																				0.423	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		35	88	35	88
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu	37	5	13923478	13923478	+	Missense_Mutation	SNP	C	C	T	rs116128702		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:13923478C>T	ENST00000265104.4	-	4	453	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	117	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		17925	0.0		0.001	False		,,,				2504	0.0															0													194.0	184.0	187.0					5																	13923478		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.349G>A	5.37:g.13923478C>T	ENSP00000265104:p.Glu117Lys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.66	3.184577	0.57909	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	5.68	5.68	0.88126	.	0.048882	0.85682	D	0.000000	T	0.29061	0.0722	M	0.72118	2.19	0.58432	D	0.999999	B	0.21381	0.055	B	0.11329	0.006	T	0.03463	-1.1034	10	0.34782	T	0.22	.	19.7966	0.96487	0.0:1.0:0.0:0.0	.	117	Q8TE73	DYH5_HUMAN	K	117	ENSP00000265104:E117K	ENSP00000265104:E117K	E	-	1	0	DNAH5	13976478	1.000000	0.71417	0.946000	0.38457	0.588000	0.36517	7.162000	0.77515	2.676000	0.91093	0.650000	0.86243	GAG		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		67	138	67	138
MROH2B	133558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	41055887	41055887	+	Silent	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:41055887T>A	ENST00000399564.4	-	10	1440	c.990A>T	c.(988-990)cgA>cgT	p.R330R	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	330																	AGATTCCCACTCGAATGGCTT	0.413																																																0													121.0	120.0	120.0					5																	41055887		1872	4103	5975	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.990A>T	5.37:g.41055887T>A			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		46	105	46	105
ULBP1	80329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	150289853	150289853	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr6:150289853T>A	ENST00000229708.3	+	2	239	c.196T>A	c.(196-198)Tgt>Agt	p.C66S		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	66	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCACTATGACTGTGTTAACCA	0.453																																																0													134.0	136.0	136.0					6																	150289853		2203	4300	6503	SO:0001583	missense	80329			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.196T>A	6.37:g.150289853T>A	ENSP00000229708:p.Cys66Ser		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.652717	0.47362	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.03920	3.76;3.76	1.7	1.7	0.24286	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.03095	0.0091	L	0.43701	1.375	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17319	-1.0373	9	0.02654	T	1	.	5.4621	0.16622	0.0:0.0:0.0:1.0	.	66	Q9BZM6	N2DL1_HUMAN	S	66	ENSP00000356314:C66S;ENSP00000229708:C66S	ENSP00000229708:C66S	C	+	1	0	ULBP1	150331546	0.000000	0.05858	0.022000	0.16811	0.363000	0.29612	-0.105000	0.10907	1.041000	0.40125	0.254000	0.18369	TGT		0.453	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			68	76	68	76
KEL	3792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	142637545	142637545	+	IGR	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:142637545G>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Silent_p.T105T	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTCCAAGACGGCAGCTGTTC	0.532																																																0													226.0	200.0	209.0					7																	142637545		2203	4300	6503	SO:0001628	intergenic_variant	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637545G>A			B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	0.065	-1.215916	0.01542	.	.	ENSG00000165131	ENST00000458732	.	.	.	4.38	-8.73	0.00841	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	4	.	.	.	-3.3097	8.2532	0.31739	0.384:0.4988:0.1172:0.0	.	.	.	.	S	111	.	.	G	+	1	0	C7orf34	142347667	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.299000	0.00521	-1.229000	0.02564	-0.265000	0.10407	GGC		0.532	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		48	189	48	189
KMT2C	58508	hgsc.bcm.edu;broad.mit.edu	37	7	151945104	151945104	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:151945104A>T	ENST00000262189.6	-	14	2633	c.2415T>A	c.(2413-2415)agT>agA	p.S805R	KMT2C_ENST00000355193.2_Missense_Mutation_p.S805R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	805					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGCAGAGGAACTAAGAGCTG	0.438																																																0													485.0	436.0	453.0					7																	151945104		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2415T>A	7.37:g.151945104A>T	ENSP00000262189:p.Ser805Arg		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.06|10.06	1.247843|1.247843	0.22880|0.22880	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.83075	.|-1.68;-1.68	5.57|5.57	-0.514|-0.514	0.11958|0.11958	.|.	.|1.513640	.|0.04138	.|N	.|0.319029	T|T	0.66896|0.66896	0.2836|0.2836	N|N	0.19112|0.19112	0.55|0.55	0.21064|0.21064	N|N	0.999795|0.999795	.|B	.|0.20887	.|0.049	.|B	.|0.16722	.|0.016	T|T	0.48811|0.48811	-0.9002|-0.9002	5|10	.|0.18276	.|T	.|0.48	.|.	1.4701|1.4701	0.02414|0.02414	0.4514:0.2509:0.1762:0.1215|0.4514:0.2509:0.1762:0.1215	.|.	.|805	.|Q8NEZ4	.|MLL3_HUMAN	I|R	1|805	.|ENSP00000262189:S805R;ENSP00000347325:S805R	.|ENSP00000262189:S805R	F|S	-|-	1|3	0|2	MLL3|MLL3	151576037|151576037	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.056000|0.056000	0.15407|0.15407	-0.155000|-0.155000	0.10115|0.10115	-0.018000|-0.018000	0.14079|0.14079	0.528000|0.528000	0.53228|0.53228	TTC|AGT		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			56	891	56	891
TLN1	7094	hgsc.bcm.edu;broad.mit.edu	37	9	35714763	35714763	+	Missense_Mutation	SNP	G	G	C	rs368090910		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:35714763G>C	ENST00000314888.9	-	22	3218	c.2865C>G	c.(2863-2865)agC>agG	p.S955R	TLN1_ENST00000540444.1_Missense_Mutation_p.S955R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	955					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCTTGCAGCTCTGCACCA	0.597																																																0													55.0	64.0	61.0					9																	35714763		2201	4298	6499	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2865C>G	9.37:g.35714763G>C	ENSP00000316029:p.Ser955Arg		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402457	0.62288	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69175	-0.38;-0.38	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	L	0.60455	1.87	0.80722	D	1	B	0.27068	0.167	B	0.29598	0.104	T	0.63042	-0.6725	10	0.54805	T	0.06	-17.5819	13.6054	0.62044	0.0706:0.0:0.9294:0.0	.	955	Q9Y490	TLN1_HUMAN	R	955	ENSP00000316029:S955R;ENSP00000442981:S955R	ENSP00000316029:S955R	S	-	3	2	TLN1	35704763	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.876000	0.63079	2.837000	0.97791	0.655000	0.94253	AGC		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		11	204	11	204
FAM120A	23196	hgsc.bcm.edu;broad.mit.edu	37	9	96326729	96326729	+	Silent	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:96326729C>T	ENST00000277165.6	+	18	3458	c.3264C>T	c.(3262-3264)tgC>tgT	p.C1088C	FAM120A_ENST00000333936.5_Silent_p.C1116C|AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000340893.4_Silent_p.C1042C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1088	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAAAACGTGCAATACAAATC	0.502																																																0													77.0	82.0	80.0					9																	96326729		2203	4300	6503	SO:0001819	synonymous_variant	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3264C>T	9.37:g.96326729C>T			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	CCDS6706.1																																																																																				0.502	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		12	184	12	184
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	114246646	114246646	+	Silent	SNP	A	A	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:114246646A>C	ENST00000259335.4	-	2	266	c.267T>G	c.(265-267)ccT>ccG	p.P89P	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCTGTCCAAAGGAAGAGACG	0.697																																																0													11.0	16.0	14.0					9																	114246646		1843	3961	5804	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.267T>G	9.37:g.114246646A>C			O15074|Q8WU82	Silent	SNP	ENST00000259335.4	37	CCDS48006.1																																																																																				0.697	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686		11	28	11	28
TMEM27	57393	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	15682843	15682843	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:15682843G>C	ENST00000380342.3	-	1	311	c.56C>G	c.(55-57)cCa>cGa	p.P19R		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	19					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTACATACCTGGTTGACAGAG	0.363																																																0													61.0	58.0	59.0					X																	15682843		2203	4299	6502	SO:0001583	missense	57393			AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.56C>G	X.37:g.15682843G>C	ENSP00000369699:p.Pro19Arg		B2R9M1|Q6UW07	Missense_Mutation	SNP	ENST00000380342.3	37	CCDS14170.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412880	0.62511	.	.	ENSG00000147003	ENST00000380342	T	0.52983	0.64	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	M	0.86268	2.805	0.42787	D	0.993886	D	0.89917	1.0	D	0.91635	0.999	T	0.77140	-0.2697	10	0.87932	D	0	-40.0517	14.1461	0.65351	0.0:0.1457:0.8543:0.0	.	19	Q9HBJ8	TMM27_HUMAN	R	19	ENSP00000369699:P19R	ENSP00000369699:P19R	P	-	2	0	TMEM27	15592764	1.000000	0.71417	0.986000	0.45419	0.943000	0.58893	6.069000	0.71209	1.164000	0.42652	0.529000	0.55759	CCA		0.363	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		35	75	35	75
MAP7D2	256714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	20044027	20044027	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:20044027G>A	ENST00000379651.3	-	8	946	c.928C>T	c.(928-930)Cct>Tct	p.P310S	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P351S|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P195S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P265S|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P258S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	310					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTAGGGAGGTTTCGTTGTC	0.488																																																0													192.0	178.0	182.0					X																	20044027		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.928C>T	X.37:g.20044027G>A	ENSP00000368972:p.Pro310Ser		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	8.778	0.927592	0.18056	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.3	3.51	0.40186	.	0.547984	0.18753	N	0.132111	T	0.07593	0.0191	L	0.59436	1.845	0.23168	N	0.998189	B;B;B;B;B	0.19583	0.022;0.005;0.037;0.022;0.021	B;B;B;B;B	0.18871	0.015;0.009;0.023;0.01;0.023	T	0.30937	-0.9961	10	0.30078	T	0.28	-0.0686	8.1351	0.31050	0.0906:0.1561:0.7533:0.0	.	265;258;351;310;195	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	S	310;351;195;265;258	ENSP00000368972:P310S;ENSP00000368964:P351S;ENSP00000440691:P195S;ENSP00000388239:P265S;ENSP00000413301:P258S	ENSP00000368964:P351S	P	-	1	0	MAP7D2	19953948	0.994000	0.37717	0.097000	0.21041	0.011000	0.07611	0.936000	0.28938	0.527000	0.28560	0.594000	0.82650	CCT		0.488	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		114	283	114	283
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	31747756	31747756	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:31747756G>A	ENST00000357033.4	-	52	7858	c.7652C>T	c.(7651-7653)aCg>aTg	p.T2551M	DMD_ENST00000541735.1_Missense_Mutation_p.T91M|DMD_ENST00000359836.1_Missense_Mutation_p.T91M|DMD_ENST00000378707.3_Missense_Mutation_p.T91M|DMD_ENST00000474231.1_Missense_Mutation_p.T91M|DMD_ENST00000343523.2_Missense_Mutation_p.T91M|DMD_ENST00000378677.2_Missense_Mutation_p.T2547M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2551					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTCGATCCGTAATGATTGT	0.393																																																7	Substitution - Missense(7)	central_nervous_system(4)|prostate(3)											235.0	198.0	211.0					X																	31747756		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7652C>T	X.37:g.31747756G>A	ENSP00000354923:p.Thr2551Met		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146006	0.77888	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.23	5.23	0.72850	.	0.000000	0.35936	U	0.002897	T	0.69611	0.3130	M	0.74258	2.255	0.53005	D	0.999962	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.87578	0.974;0.993;0.998;0.993;0.995;0.955;0.993;0.993;0.995;0.989	T	0.71009	-0.4716	10	0.46703	T	0.11	.	18.1287	0.89595	0.0:0.0:1.0:0.0	.	2543;2551;2547;1210;1207;91;91;91;91;91	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	M	2543;1210;1207;247;2547;2551;91;91;2551;2428;91;91;91	ENSP00000350765:T247M;ENSP00000367948:T2547M;ENSP00000354923:T2551M;ENSP00000352894:T91M;ENSP00000340057:T91M;ENSP00000367979:T91M;ENSP00000444119:T91M;ENSP00000417123:T91M	ENSP00000340057:T91M	T	-	2	0	DMD	31657677	1.000000	0.71417	0.981000	0.43875	0.802000	0.45316	8.299000	0.89946	2.304000	0.77564	0.506000	0.49869	ACG		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		80	188	80	188
BCOR	54880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	39932304	39932304	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:39932304G>A	ENST00000378444.4	-	4	2523	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_ENST00000342274.4_Silent_p.S765S|BCOR_ENST00000378455.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	765					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													137.0	131.0	133.0					X																	39932304		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2295C>T	X.37:g.39932304G>A			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		103	229	103	229
ZNF41	7592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	47308566	47308566	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:47308566G>T	ENST00000377065.4	-	5	1242	c.603C>A	c.(601-603)aaC>aaA	p.N201K	ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328																																																1	Substitution - Missense(1)	lung(1)											130.0	121.0	124.0					X																	47308566		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.603C>A	X.37:g.47308566G>T	ENSP00000366265:p.Asn201Lys		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.727778	0.00694	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.05925	3.37;3.37;3.37	2.96	1.12	0.20585	.	0.196738	0.25127	N	0.032924	T	0.02267	0.0070	N	0.08118	0	0.24121	N	0.995802	B;B;P;B;B	0.38370	0.002;0.002;0.628;0.0;0.0	B;B;B;B;B	0.37601	0.003;0.003;0.254;0.001;0.0	T	0.35968	-0.9767	10	0.07644	T	0.81	.	3.0035	0.06021	0.2823:0.2338:0.4839:0.0	.	201;203;211;235;243	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	K	201;201;211	ENSP00000315173:N201K;ENSP00000366265:N201K;ENSP00000380243:N211K	ENSP00000315173:N201K	N	-	3	2	ZNF41	47193510	0.475000	0.25894	0.340000	0.25575	0.007000	0.05969	-0.108000	0.10857	0.180000	0.19960	-0.371000	0.07208	AAC		0.328	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		47	124	47	124
HAUS5	23354	broad.mit.edu;ucsc.edu	37	19	36108982	36108982	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:36108982A>G	ENST00000203166.5	+	10	731	c.706A>G	c.(706-708)Aca>Gca	p.T236A	HAUS5_ENST00000379045.2_Missense_Mutation_p.T236A	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	236					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GACGCTGCTGACAAACCACCC	0.637																																																0													84.0	93.0	90.0					19																	36108982		2075	4211	6286	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.706A>G	19.37:g.36108982A>G	ENSP00000439056:p.Thr236Ala		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089396	0.36855	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.31769	1.48;1.48	4.73	3.68	0.42216	.	0.451134	0.23752	N	0.044905	T	0.48259	0.1490	M	0.71581	2.175	0.27855	N	0.940593	D	0.67145	0.996	D	0.77557	0.99	T	0.31806	-0.9930	10	0.42905	T	0.14	.	7.2073	0.25915	0.8966:0.0:0.1034:0.0	.	236	O94927	HAUS5_HUMAN	A	236	ENSP00000439056:T236A;ENSP00000444373:T236A	ENSP00000439056:T236A	T	+	1	0	HAUS5	40800822	0.996000	0.38824	1.000000	0.80357	0.239000	0.25481	1.369000	0.34227	1.979000	0.57680	0.533000	0.62120	ACA		0.637	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			42	153	42	153
TRAV8-2	28684	broad.mit.edu;ucsc.edu	37	14	22315244	22315244	+	RNA	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr14:22315244A>G	ENST00000390434.3	+	0	407									T cell receptor alpha variable 8-2																		CACCCCAACAAAGGACTCCAG	0.498											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													159.0	158.0	158.0					14																	22315244		1976	4173	6149			28684			AE000659		14q11.2	2012-02-07			ENSG00000211786	ENSG00000211786		"""T cell receptors / TRA locus"""	12147	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168991		14.37:g.22315244A>G		755		RNA	SNP	ENST00000390434.3	37																																																																																					0.498	TRAV8-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401889.1	NG_001332		82	152	82	152
PLEK	5341	broad.mit.edu;ucsc.edu	37	2	68620306	68620306	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:68620306A>G	ENST00000234313.7	+	7	954	c.775A>G	c.(775-777)Aaa>Gaa	p.K259E		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	259	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATAGAAGGAAAAACTGGAA	0.433																																																0													167.0	154.0	159.0					2																	68620306		2203	4300	6503	SO:0001583	missense	5341			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.775A>G	2.37:g.68620306A>G	ENSP00000234313:p.Lys259Glu		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007586	0.93287	.	.	ENSG00000115956	ENST00000234313	T	0.37235	1.21	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.93594	3.435	0.80722	D	1	D;D	0.69078	0.997;0.989	D;D	0.79784	0.985;0.993	T	0.78730	-0.2090	10	0.72032	D	0.01	.	15.7711	0.78170	1.0:0.0:0.0:0.0	.	277;259	Q59GZ2;P08567	.;PLEK_HUMAN	E	259	ENSP00000234313:K259E	ENSP00000234313:K259E	K	+	1	0	PLEK	68473810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.215000	0.71742	0.459000	0.35465	AAA		0.433	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		52	138	52	138
MTCL1	23255	broad.mit.edu;ucsc.edu	37	18	8821483	8821483	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:8821483G>A	ENST00000306329.11	+	12	4132	c.4132G>A	c.(4132-4134)Gga>Aga	p.G1378R	SOGA2_ENST00000359865.3_Missense_Mutation_p.G1059R|SOGA2_ENST00000517570.1_Missense_Mutation_p.G1018R|SOGA2_ENST00000400050.3_Missense_Mutation_p.G1018R|SOGA2_ENST00000518815.1_Missense_Mutation_p.G384R|SOGA2_ENST00000306285.7_Missense_Mutation_p.G384R																							AAATCACAAAGGAAATCTTCA	0.299																																																0													32.0	34.0	33.0					18																	8821483		2192	4298	6490	SO:0001583	missense	23255																														ENST00000306329.11:c.4132G>A	18.37:g.8821483G>A	ENSP00000305027:p.Gly1378Arg			Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	14.89	2.670982	0.47781	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T;T	0.59502	0.26;2.4;2.4;2.4;1.4	6.16	5.3	0.74995	.	0.277051	0.26723	N	0.022839	T	0.57681	0.2070	M	0.71581	2.175	0.38763	D	0.95437	P;B	0.38110	0.618;0.418	B;B	0.37508	0.142;0.252	T	0.64470	-0.6400	10	0.51188	T	0.08	-16.9929	12.7543	0.57325	0.0745:0.0:0.9255:0.0	.	1369;1059	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	R	1080;1018;1059;1018;384	ENSP00000305027:G1080R;ENSP00000429556:G1018R;ENSP00000352927:G1059R;ENSP00000382924:G1018R;ENSP00000303670:G384R	ENSP00000303670:G384R	G	+	1	0	CCDC165	8811483	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.514000	0.60482	1.627000	0.50400	0.650000	0.86243	GGA		0.299	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			11	35	11	35
PSD3	23362	broad.mit.edu;ucsc.edu	37	8	18725328	18725328	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr8:18725328G>C	ENST00000327040.8	-	4	1592	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.S432*|PSD3_ENST00000440756.2_Nonsense_Mutation_p.S497*	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	497					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCTCCCCCTGATGTCCTCTC	0.488																																																0													224.0	222.0	222.0					8																	18725328		2123	4236	6359	SO:0001587	stop_gained	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1490C>G	8.37:g.18725328G>C	ENSP00000324127:p.Ser497*		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Nonsense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002256	0.93227	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	.	.	.	5.28	4.39	0.52855	.	0.508491	0.17964	N	0.156076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.2871	0.21039	0.0923:0.0:0.7226:0.1851	.	.	.	.	X	497;497;432	.	ENSP00000324127:S497X	S	-	2	0	PSD3	18769608	0.164000	0.22935	0.014000	0.15608	0.099000	0.18886	2.834000	0.48167	2.637000	0.89404	0.585000	0.79938	TCA		0.488	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		78	198	78	198
NANOGP1	404635	broad.mit.edu;ucsc.edu	37	12	8048160	8048160	+	RNA	SNP	C	C	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:8048160C>G	ENST00000607111.1	+	0	88							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|lung(4)|prostate(1)	6						CCCACTACTGCAGAGAAGAGT	0.478																																																0																																												404635			AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8048160C>G				RNA	SNP	ENST00000607111.1	37		.	.	.	.	.	.	.	.	.	.	C	4.962	0.178723	0.09443	.	.	ENSG00000176654	ENST00000530989;ENST00000525030	.	.	.	1.77	-3.54	0.04653	.	2.177700	0.01562	N	0.020175	T	0.17238	0.0414	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.04796	-1.0926	8	0.20519	T	0.43	5.8675	0.2042	0.00148	0.2089:0.263:0.2073:0.3209	.	23	E9PQ94	.	G	23;41	.	ENSP00000435164:A41G	A	+	2	0	NANOGP1	7939427	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.033000	0.00636	-1.064000	0.03172	0.289000	0.19496	GCA		0.478	NANOGP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470953.1			33	93	33	93
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu	37	5	140431875	140431875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:140431875delA	ENST00000306549.3	+	1	897	c.820delA	c.(820-822)aacfs	p.N274fs		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGCACCAACAAAGCGAT	0.512																																																0													63.0	62.0	62.0					5																	140431875		2203	4300	6503	SO:0001589	frameshift_variant	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.820delA	5.37:g.140431875delA	ENSP00000307234:p.Asn274fs		Q2M257	Frame_Shift_Del	DEL	ENST00000306549.3	37	CCDS4243.1																																																																																				0.512	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		14	47	14	47
GDPD3	79153	broad.mit.edu;hgsc.bcm.edu	37	16	30119725	30119725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:30119725delG	ENST00000406256.3	-	8	1113	c.736delC	c.(736-738)ctgfs	p.L246fs	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	246	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AACTGGTTCAGGCAAGAGCAG	0.577																																																0													172.0	153.0	159.0					16																	30119725		2197	4300	6497	SO:0001589	frameshift_variant	79153			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.736delC	16.37:g.30119725delG	ENSP00000384363:p.Leu246fs		Q9H652	Frame_Shift_Del	DEL	ENST00000406256.3	37	CCDS10671.2																																																																																				0.577	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		128	213	128	213
