#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48315960	48315961	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:48315960_48315961insA	ENST00000435803.1	+	17	6721_6722	c.6697_6698insA	c.(6697-6699)caafs	p.Q2233fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2233					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACTGACCTTCAAATAATGAAT	0.347																																																	0																																										SO:0001589	frameshift_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6700dupA	7.37:g.48315963_48315963dupA	ENSP00000411096:p.Gln2233fs	Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Ins	INS	ENST00000435803.1	37	CCDS47584.1																																																																																				0.347	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ACVR1C	130399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158412667	158412667	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:158412667A>G	ENST00000243349.8	-	3	842	c.482T>C	c.(481-483)gTa>gCa	p.V161A	ACVR1C_ENST00000409680.3_Missense_Mutation_p.V111A|ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.V161A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCCAGCATTTACCAGATTGCA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					2																	158412667		2203	4300	6503	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.482T>C	2.37:g.158412667A>G	ENSP00000243349:p.Val161Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804717	0.31961	.	.	ENSG00000123612	ENST00000243349;ENST00000409680	D;D	0.87809	-2.3;-2.18	5.95	3.61	0.41365	.	0.132404	0.33732	N	0.004612	T	0.81356	0.4805	L	0.50333	1.59	0.26048	N	0.981521	B	0.22003	0.063	B	0.24974	0.057	T	0.70706	-0.4798	10	0.46703	T	0.11	.	5.2996	0.15770	0.7304:0.0:0.1394:0.1302	.	161	Q8NER5	ACV1C_HUMAN	A	161;111	ENSP00000243349:V161A;ENSP00000387168:V111A	ENSP00000243349:V161A	V	-	2	0	ACVR1C	158120913	0.008000	0.16893	0.361000	0.25849	0.744000	0.42396	2.363000	0.44178	0.520000	0.28426	-0.263000	0.10527	GTA		0.443	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2		NM_145259	
AHNAK2	113146	broad.mit.edu;ucsc.edu	37	14	105420074	105420074	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:105420074C>T	ENST00000333244.5	-	7	1833	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	572						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G572S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCCCTGCCCTTGTCCTGT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											338.0	355.0	349.0					14																	105420074		2152	4251	6403	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1714G>A	14.37:g.105420074C>T	ENSP00000353114:p.Gly572Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.24	1.877341	0.33162	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	4.83	-5.45	0.02616	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.47433	-0.9118	9	0.13108	T	0.6	.	7.8066	0.29206	0.0:0.2917:0.407:0.3013	.	572	Q8IVF2	AHNK2_HUMAN	S	572	ENSP00000353114:G572S	ENSP00000353114:G572S	G	-	1	0	AHNAK2	104491119	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	-1.581000	0.01642	-0.379000	0.06801	GGC		0.527	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
AKAP2	11217	hgsc.bcm.edu	37	9	112900482	112900483	+	Frame_Shift_Ins	INS	-	-	C	rs376237093		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:112900482_112900483insC	ENST00000259318.7	+	2	2172_2173	c.1965_1966insC	c.(1966-1968)cccfs	p.P656fs	AKAP2_ENST00000434623.2_Frame_Shift_Ins_p.P745fs|AKAP2_ENST00000510514.5_Frame_Shift_Ins_p.P887fs|PALM2-AKAP2_ENST00000374530.3_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000374525.1_Frame_Shift_Ins_p.P745fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000555236.1_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000482335.1_3'UTR	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	656										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGGAAAGGGGGCCCCCCCAGCC	0.564																																																	0																																										SO:0001589	frameshift_variant	11217			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1972dupC	9.37:g.112900489_112900489dupC	ENSP00000259318:p.Pro656fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Frame_Shift_Ins	INS	ENST00000259318.7	37	CCDS48003.1																																																																																				0.564	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3		NM_001004065	
ARL15	54622	hgsc.bcm.edu;ucsc.edu	37	5	53409047	53409047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:53409047delA	ENST00000504924.1	-	4	540	c.447delT	c.(445-447)gctfs	p.A149fs	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_Frame_Shift_Del_p.A149fs	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	149					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GTACTGAGCGAGCTGCTGGCT	0.428																																																	0													69.0	74.0	72.0					5																	53409047		1994	4174	6168	SO:0001589	frameshift_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.447delT	5.37:g.53409047delA	ENSP00000433427:p.Ala149fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IAD0	Frame_Shift_Del	DEL	ENST00000504924.1	37	CCDS54850.1																																																																																				0.428	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2		NM_019087	
ARL15	54622	hgsc.bcm.edu;ucsc.edu	37	5	53409049	53409049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:53409049delC	ENST00000504924.1	-	4	538	c.445delG	c.(445-447)gctfs	p.A149fs	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_Frame_Shift_Del_p.A149fs	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	149					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				ACTGAGCGAGCTGCTGGCTTG	0.428																																																	0													69.0	74.0	73.0					5																	53409049		1993	4175	6168	SO:0001589	frameshift_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.445delG	5.37:g.53409049delC	ENSP00000433427:p.Ala149fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IAD0	Frame_Shift_Del	DEL	ENST00000504924.1	37	CCDS54850.1																																																																																				0.428	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2		NM_019087	
ARMC3	219681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	23321851	23321851	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:23321851G>C	ENST00000298032.5	+	18	2392	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	ARMC3_ENST00000409983.3_Missense_Mutation_p.E763Q|ARMC3_ENST00000376528.4_Missense_Mutation_p.E507Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	770						extracellular vesicular exosome (GO:0070062)		p.E770Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCAGCTGGGAACTTCACAT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											98.0	92.0	94.0					10																	23321851		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2308G>C	10.37:g.23321851G>C	ENSP00000298032:p.Glu770Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307762	0.60305	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.42900	0.96;0.96;2.18	5.37	3.48	0.39840	.	1.031960	0.07611	N	0.925358	T	0.65739	0.2720	M	0.62723	1.935	0.45139	D	0.998159	D;D	0.89917	0.999;1.0	D;D	0.85130	0.953;0.997	T	0.57682	-0.7769	10	0.72032	D	0.01	-10.3076	16.0661	0.80878	0.0:0.2539:0.7461:0.0	.	763;770	Q5W041-4;Q5W041	.;ARMC3_HUMAN	Q	770;763;507	ENSP00000298032:E770Q;ENSP00000386943:E763Q;ENSP00000365711:E507Q	ENSP00000298032:E770Q	E	+	1	0	ARMC3	23361857	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.279000	0.58953	0.722000	0.32252	-0.315000	0.08773	GAA		0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2		NM_173081	
ARMC6	93436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19166161	19166161	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:19166161G>C	ENST00000535612.1	+	7	1543	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	ARMC6_ENST00000269932.6_Missense_Mutation_p.E346Q|ARMC6_ENST00000392335.2_Missense_Mutation_p.E346Q|ARMC6_ENST00000546344.1_Missense_Mutation_p.E278Q|ARMC6_ENST00000392336.3_Missense_Mutation_p.E371Q	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	371					hematopoietic progenitor cell differentiation (GO:0002244)			p.E346Q(1)|p.E371Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGGTGGGACGGAGTCCATCGT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											115.0	90.0	98.0					19																	19166161		2203	4300	6503	SO:0001583	missense	93436			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1111G>C	19.37:g.19166161G>C	ENSP00000444156:p.Glu371Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.373592|1.373592	0.24857|0.24857	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535478;ENST00000535795	T;T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73;0.73|.	4.88|4.88	2.55|2.55	0.30701|0.30701	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.388275|.	0.28135|.	N|.	0.016475|.	T|T	0.32941|0.32941	0.0846|0.0846	N|N	0.17800|0.17800	0.525|0.525	0.30168|0.30168	N|N	0.801591|0.801591	B|.	0.26002|.	0.139|.	B|.	0.21917|.	0.037|.	T|T	0.29150|0.29150	-1.0021|-1.0021	10|5	0.20519|.	T|.	0.43|.	-19.4361|-19.4361	13.8085|13.8085	0.63248|0.63248	0.0:0.2911:0.7089:0.0|0.0:0.2911:0.7089:0.0	.|.	371|.	Q6NXE6|.	ARMC6_HUMAN|.	Q|A	346;371;346;278;282;371|60;34	ENSP00000376147:E346Q;ENSP00000444156:E371Q;ENSP00000269932:E346Q;ENSP00000444341:E278Q;ENSP00000376148:E371Q|.	ENSP00000269932:E346Q|.	E|G	+|+	1|2	0|0	ARMC6|ARMC6	19027161|19027161	0.954000|0.954000	0.32549|0.32549	0.686000|0.686000	0.30086|0.30086	0.351000|0.351000	0.29236|0.29236	2.588000|2.588000	0.46137|0.46137	1.035000|1.035000	0.39972|0.39972	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.612	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1		NM_033415	
ARMCX2	9823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100912452	100912452	+	Silent	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:100912452G>A	ENST00000328766.5	-	5	576	c.123C>T	c.(121-123)ccC>ccT	p.P41P	ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Silent_p.P41P|ARMCX2_ENST00000356824.4_Silent_p.P41P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	41						integral component of membrane (GO:0016021)		p.P41P(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						cccGGTTTTTGGGCTTGGCCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	63.0	64.0					X																	100912452		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.123C>T	X.37:g.100912452G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	CCDS14490.1																																																																																				0.587	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1		NM_014782	
ASCC1	51008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73912709	73912709	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:73912709C>A	ENST00000342444.4	-	8	849	c.748G>T	c.(748-750)Gca>Tca	p.A250S	ASCC1_ENST00000317126.4_Missense_Mutation_p.A222S|ASCC1_ENST00000317168.6_Missense_Mutation_p.A222S|ASCC1_ENST00000545550.1_Missense_Mutation_p.A244S|ASCC1_ENST00000394915.3_Missense_Mutation_p.A250S|ASCC1_ENST00000394919.1_Missense_Mutation_p.A222S	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	250				A -> P (in Ref. 1 and 2). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)	p.A222S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCTATCCCTGCCATCTCCACT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											138.0	113.0	122.0					10																	73912709		2203	4300	6503	SO:0001583	missense	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.748G>T	10.37:g.73912709C>A	ENSP00000339404:p.Ala250Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	ENST00000342444.4	37	CCDS55713.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.293|8.293|8.293	0.818182|0.818182|0.818182	0.16607|0.16607|0.16607	.|.|.	.|.|.	ENSG00000138303|ENSG00000138303|ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915|ENST00000486689|ENST00000530394	T;T;T;T;T;T|.|.	0.62639|.|.	0.01;0.01;0.01;0.01;0.01;0.01|.|.	5.24|5.24|5.24	-0.644|-0.644|-0.644	0.11479|0.11479|0.11479	Protein kinase A anchor protein, nuclear localisation signal domain (1);|.|.	0.868004|.|.	0.10439|.|.	N|.|.	0.674533|.|.	T|T|T	0.24547|0.24547|0.24547	0.0595|0.0595|0.0595	L|L|L	0.31664|0.31664|0.31664	0.95|0.95|0.95	0.19775|0.19775|0.19775	N|N|N	0.999956|0.999956|0.999956	B;B;B|.|.	0.23249|.|.	0.016;0.036;0.082|.|.	B;B;B|.|.	0.20955|.|.	0.006;0.026;0.032|.|.	T|T|T	0.28776|0.28776|0.28776	-1.0033|-1.0033|-1.0033	10|5|5	0.17832|.|.	T|.|.	0.49|.|.	-13.9385|-13.9385|-13.9385	5.5375|5.5375|5.5375	0.17020|0.17020|0.17020	0.4341:0.388:0.1093:0.0686|0.4341:0.388:0.1093:0.0686|0.4341:0.388:0.1093:0.0686	.|.|.	244;250;137|.|.	F5H874;Q8N9N2;B3KU20|.|.	.;ASCC1_HUMAN;.|.|.	S|V|C	222;250;222;222;137;222;244;250|153|19	ENSP00000378377:A222S;ENSP00000339404:A250S;ENSP00000320810:A222S;ENSP00000320461:A222S;ENSP00000442121:A244S;ENSP00000378373:A250S|.|.	ENSP00000320461:A222S|.|.	A|G|W	-|-|-	1|2|3	0|0|0	ASCC1|ASCC1|ASCC1	73582715|73582715|73582715	0.190000|0.190000|0.190000	0.23276|0.23276|0.23276	0.573000|0.573000|0.573000	0.28510|0.28510|0.28510	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	-0.010000|-0.010000|-0.010000	0.12743|0.12743|0.12743	-0.010000|-0.010000|-0.010000	0.14271|0.14271|0.14271	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCA|GGC|TGG		0.393	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2		NM_015947	
ATP12A	479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25266644	25266644	+	Silent	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr13:25266644C>T	ENST00000381946.3	+	9	1313	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	ATP12A_ENST00000218548.6_Silent_p.L388L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	382				L -> P (in Ref. 9; AAA35576). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.L382L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGAGACCCTCGGCTCCACCT	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)												1	Substitution - coding silent(1)	kidney(1)											88.0	80.0	83.0					13																	25266644		2203	4300	6503	SO:0001819	synonymous_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1146C>T	13.37:g.25266644C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																				0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676	
BRF1	2972	hgsc.bcm.edu;ucsc.edu	37	14	105684036	105684049	+	Frame_Shift_Del	DEL	ATTGATCTTGCTGG	ATTGATCTTGCTGG	-	rs200027756		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	ATTGATCTTGCTGG	ATTGATCTTGCTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:105684036_105684049delATTGATCTTGCTGG	ENST00000546474.1	-	15	16563_16576	c.1604_1617delCCAGCAAGATCAAT	c.(1603-1617)tccagcaagatcaatfs	p.SSKIN535fs	BRF1_ENST00000446501.2_Frame_Shift_Del_p.SSKIN297fs|BRF1_ENST00000547530.1_Frame_Shift_Del_p.SSKIN61fs|BRF1_ENST00000327359.3_Frame_Shift_Del_p.SSKIN420fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000379937.2_Frame_Shift_Del_p.SSKIN508fs|BRF1_ENST00000392557.4_Frame_Shift_Del_p.SSKIN331fs|BRF1_ENST00000440513.3_Frame_Shift_Del_p.SSKIN442fs|BRF1_ENST00000551787.1_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	535					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCACGCTATAATTGATCTTGCTGGAGATCTTCTT	0.607																																																	0																																										SO:0001589	frameshift_variant	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1604_1617delCCAGCAAGATCAAT	14.37:g.105684036_105684049delATTGATCTTGCTGG	ENSP00000448323:p.Ser535fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Frame_Shift_Del	DEL	ENST00000546474.1	37	CCDS10001.1																																																																																				0.607	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4		NM_001519	
NREP	9315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	111310973	111310973	+	Intron	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:111310973delA	ENST00000450761.2	-	1	141				NREP-AS1_ENST00000503242.1_RNA|NREP-AS1_ENST00000507222.1_RNA|NREP_ENST00000395634.3_Frame_Shift_Del_p.C45fs			Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGTCTTACACAATTCAGAACA	0.448																																																	0													255.0	229.0	237.0					5																	111310973		692	1591	2283	SO:0001627	intron_variant	0			AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000450761.2:c.57+22047T>-	5.37:g.111310973delA		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDN8|B7Z5D2|D3DSZ8	Frame_Shift_Del	DEL	ENST00000450761.2	37	CCDS4105.1																																																																																				0.448	NREP-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370888.1		NM_004772	
SUGCT	79783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40900017	40900017	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:40900017A>G	ENST00000335693.4	+	14	1300	c.1277A>G	c.(1276-1278)gAt>gGt	p.D426G	C7orf10_ENST00000401647.2_Missense_Mutation_p.D378G|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Missense_Mutation_p.D452G	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		426					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.D452G(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CTGAGATACGATGACAGGGCC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											78.0	87.0	84.0					7																	40900017		2127	4221	6348	SO:0001583	missense	79783																														ENST00000335693.4:c.1277A>G	7.37:g.40900017A>G	ENSP00000338475:p.Asp426Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	A	4.811	0.150815	0.09185	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.86297	-2.1;0.64;0.64	5.7	5.7	0.88788	CoA-transferase family III domain (1);	0.305248	0.35646	N	0.003068	T	0.80401	0.4616	L	0.29908	0.895	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.002;0.001;0.005	T	0.74731	-0.3566	10	0.16420	T	0.52	-15.189	15.6243	0.76840	1.0:0.0:0.0:0.0	.	378;426;415	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	G	452;378;426	ENSP00000312054:D452G;ENSP00000385222:D378G;ENSP00000338475:D426G	ENSP00000312054:D452G	D	+	2	0	C7orf10	40866542	0.356000	0.24930	0.893000	0.35052	0.013000	0.08279	3.239000	0.51360	2.165000	0.68154	0.533000	0.62120	GAT		0.562	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			
C7orf49	78996	broad.mit.edu;ucsc.edu	37	7	134853617	134853617	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:134853617G>T	ENST00000393114.3	-	2	239	c.58C>A	c.(58-60)Cag>Aag	p.Q20K	C7orf49_ENST00000430372.1_Missense_Mutation_p.P5Q|C7orf49_ENST00000459937.1_5'UTR|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000424142.1_5'UTR			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	20						cytoplasm (GO:0005737)		p.Q20K(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTAGCCACCTGGGCTGTCAGC	0.527											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											133.0	130.0	131.0					7																	134853617		2203	4300	6503	SO:0001583	missense	78996			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.58C>A	7.37:g.134853617G>T	ENSP00000376823:p.Gln20Lys	Somatic	1613	WXS	Illumina GAIIx	Phase_I	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	CCDS5838.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.968|4.968	0.179823|0.179823	0.09443|0.09443	.|.	.|.	ENSG00000122783|ENSG00000122783	ENST00000430372|ENST00000393114	.|.	.|.	.|.	4.4|4.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|T	0.20981|0.20981	0.0505|0.0505	L|L	0.29908|0.29908	0.895|0.895	0.23673|0.23673	N|N	0.997145|0.997145	D|P	0.57257|0.36909	0.979|0.573	P|B	0.60949|0.38378	0.881|0.272	T|T	0.16335|0.16335	-1.0406|-1.0406	8|8	0.87932|0.02654	D|T	0|1	-5.2487|-5.2487	5.95|5.95	0.19239|0.19239	0.1045:0.1934:0.7021:0.0|0.1045:0.1934:0.7021:0.0	.|.	5|20	C9JKC7|Q9BWK5	.|MRI_HUMAN	Q|K	5|20	.|.	ENSP00000389941:P5Q|ENSP00000376823:Q20K	P|Q	-|-	2|1	0|0	C7orf49|C7orf49	134504157|134504157	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.155000|0.155000	0.21991|0.21991	1.503000|1.503000	0.35715|0.35715	0.490000|0.490000	0.27771|0.27771	-0.379000|-0.379000	0.06801|0.06801	CCA|CAG		0.527	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1		NM_024033	
CCDC42	146849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8638483	8638483	+	Missense_Mutation	SNP	C	C	A	rs147736220	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:8638483C>A	ENST00000293845.3	-	6	1030	c.804G>T	c.(802-804)caG>caT	p.Q268H	CCDC42_ENST00000539522.2_Missense_Mutation_p.Q194H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	268								p.Q268H(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGCTCACGATCTGGAAGAGGT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											128.0	104.0	112.0					17																	8638483		2203	4300	6503	SO:0001583	missense	146849			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.804G>T	17.37:g.8638483C>A	ENSP00000293845:p.Gln268His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560654	0.65538	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29142	1.66;1.58	5.11	4.08	0.47627	.	0.000000	0.53938	D	0.000048	T	0.48768	0.1518	L	0.59436	1.845	0.33089	D	0.537621	D	0.76494	0.999	D	0.79784	0.993	T	0.57476	-0.7805	10	0.46703	T	0.11	-41.4642	12.6809	0.56922	0.0:0.9066:0.0:0.0934	.	268	Q96M95	CCD42_HUMAN	H	268;194	ENSP00000293845:Q268H;ENSP00000444359:Q194H	ENSP00000293845:Q268H	Q	-	3	2	CCDC42	8579208	0.818000	0.29161	1.000000	0.80357	0.995000	0.86356	1.303000	0.33470	2.666000	0.90696	0.655000	0.94253	CAG		0.602	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1		NM_144681	
CCNE1	898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	30303636	30303637	+	Missense_Mutation	DNP	GC	GC	CT	rs578227778		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:30303636_30303637GC>CT	ENST00000262643.3	+	3	343_344	c.64_65GC>CT	c.(64-66)GCg>CTg	p.A22L	CCNE1_ENST00000444983.2_Missense_Mutation_p.A7L|CCNE1_ENST00000357943.5_Missense_Mutation_p.A22L	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	22					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.A22V(1)|p.A22P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGACGGCGGCGCGGAGTTCTCG	0.673			A		serous ovarian																																			Dom	yes		19	19q12	898	cyclin E1		E	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	898			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	Exception_encountered	19.37:g.30303636_30303637delinsCT	ENSP00000262643:p.Ala22Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	CCDS12419.1																																																																																				0.673	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1		NM_001238	
CDH23	64072	broad.mit.edu	37	10	73442209	73442209	+	Silent	SNP	C	C	T	rs397517312		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:73442209C>T	ENST00000224721.6	+	17	1886	c.1881C>T	c.(1879-1881)agC>agT	p.S627S	CDH23_ENST00000299366.7_Silent_p.S667S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.S627S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGTGATCAGCGTCAGTCGCC	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	58.0	58.0					10																	73442209		2012	4187	6199	SO:0001819	synonymous_variant	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1881C>T	10.37:g.73442209C>T		Somatic		WXS	Illumina GAIIx	Phase_I	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																					0.552	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836	
CHRD	8646	broad.mit.edu	37	3	184100196	184100196	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:184100196C>T	ENST00000204604.1	+	7	965	c.719C>T	c.(718-720)gCa>gTa	p.A240V	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A240V|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.A240V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	240	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.A240V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGCGGGCAGTGCCTCGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											144.0	154.0	150.0					3																	184100196		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.719C>T	3.37:g.184100196C>T	ENSP00000204604:p.Ala240Val	Somatic		WXS	Illumina GAIIx	Phase_I	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383067	0.61845	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.42900	0.96;0.96;0.96	4.8	3.92	0.45320	CHRD (3);	0.237237	0.41938	D	0.000787	T	0.40909	0.1136	L	0.44542	1.39	0.80722	D	1	B;P	0.42161	0.213;0.772	B;B	0.43701	0.21;0.428	T	0.37641	-0.9697	10	0.52906	T	0.07	-1.9799	13.9793	0.64295	0.0:0.8273:0.1726:0.0	.	240;240	E7ESX1;Q9H2X0	.;CHRD_HUMAN	V	240	ENSP00000204604:A240V;ENSP00000408972:A240V;ENSP00000334036:A240V	ENSP00000204604:A240V	A	+	2	0	CHRD	185582890	0.852000	0.29690	1.000000	0.80357	0.994000	0.84299	1.574000	0.36482	1.323000	0.45263	0.655000	0.94253	GCA		0.602	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741	
CHST1	8534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45671655	45671655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:45671655delG	ENST00000308064.2	-	4	1489	c.819delC	c.(817-819)accfs	p.T274fs	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	274					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCACACCGTGGTCAGCTGCG	0.652																																																	0													92.0	76.0	82.0					11																	45671655		2203	4299	6502	SO:0001589	frameshift_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.819delC	11.37:g.45671655delG	ENSP00000309270:p.Thr274fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQP2	Frame_Shift_Del	DEL	ENST00000308064.2	37	CCDS7913.1																																																																																				0.652	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1		NM_003654	
CLNS1A	1207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77348740	77348742	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	AAA	AAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:77348740_77348742delAAA	ENST00000525428.1	-	1	108_110	c.18_20delTTT	c.(16-21)agtttc>agc	p.F7del	CLNS1A_ENST00000532069.1_In_Frame_Del_p.F7del|CLNS1A_ENST00000263309.3_In_Frame_Del_p.F7del|CLNS1A_ENST00000528364.1_In_Frame_Del_p.F7del|CLNS1A_ENST00000525064.1_In_Frame_Del_p.F7del	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	7					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			AGGCGGCGGGAAACTTTTGAGGA	0.64																																																	0																																										SO:0001651	inframe_deletion	1207			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.18_20delTTT	11.37:g.77348740_77348742delAAA	ENSP00000433919:p.Phe7del	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	In_Frame_Del	DEL	ENST00000525428.1	37	CCDS8252.1																																																																																				0.640	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2		NM_001293	
CYP2R1	120227	hgsc.bcm.edu	37	11	14913615	14913616	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:14913615_14913616insG	ENST00000334636.5	-	1	182_183	c.136_137insC	c.(136-138)ctgfs	p.L46fs	CYP2R1_ENST00000532378.1_5'Flank|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	46					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GATAAATGGCAGCCCCGGCGGC	0.658																																					NSCLC(173;1584 2058 26117 29365 41534)												0																																										SO:0001589	frameshift_variant	120227			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.137dupC	11.37:g.14913616_14913616dupG	ENSP00000334592:p.Leu46fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3H3|Q5RT65	Frame_Shift_Ins	INS	ENST00000334636.5	37	CCDS7818.1																																																																																				0.658	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1		NM_024514	
DCAF11	80344	hgsc.bcm.edu;ucsc.edu	37	14	24590696	24590697	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:24590696_24590697insAC	ENST00000446197.3	+	13	2096_2097	c.1369_1370insAC	c.(1369-1371)tacfs	p.Y457fs	RP11-468E2.6_ENST00000558325.1_Frame_Shift_Ins_p.Q47fs|DCAF11_ENST00000396941.4_Frame_Shift_Ins_p.Y431fs|DCAF11_ENST00000396936.1_Frame_Shift_Ins_p.Y357fs|DCAF11_ENST00000559115.1_Frame_Shift_Ins_p.Y457fs	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	457					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GCAGTTCATCTACAGTGGCTGC	0.574																																																	0																																										SO:0001589	frameshift_variant	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1370_1371dupAC	14.37:g.24590697_24590698dupAC	ENSP00000415556:p.Tyr457fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Frame_Shift_Ins	INS	ENST00000446197.3	37	CCDS9610.1																																																																																				0.574	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			
DDX6	1656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118635936	118635937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:118635936_118635937insA	ENST00000526070.2	-	6	986_987	c.626_627insT	c.(625-627)atafs	p.I209fs	DDX6_ENST00000264018.4_Frame_Shift_Ins_p.I209fs|DDX6_ENST00000534980.1_Frame_Shift_Ins_p.I209fs	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	209	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CAAGCCTCATTATGTCATCTCG	0.381			T	IGH@	B-NHL																																			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0																																										SO:0001589	frameshift_variant	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.627dupT	11.37:g.118635937_118635937dupA	ENSP00000433704:p.Ile209fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5D048	Frame_Shift_Ins	INS	ENST00000526070.2	37	CCDS44751.1																																																																																				0.381	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2		NM_004397	
PHF2P2	100873793	broad.mit.edu	37	13	19626616	19626616	+	IGR	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr13:19626616G>T								RP11-301J16.7 (23775 upstream) : RNA5SP24 (36010 downstream)																							TTGGTGTCATGAGTGGAGTGT	0.453																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.19626616G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.453									
EFTUD2	9343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42936450	42936450	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:42936450T>C	ENST00000426333.2	-	19	2257	c.1960A>G	c.(1960-1962)Aag>Gag	p.K654E	EFTUD2_ENST00000402521.3_Missense_Mutation_p.K619E|EFTUD2_ENST00000592576.1_Missense_Mutation_p.K644E|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K654E	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	654					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K654E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGCTGTACCTTGATGTCTATC	0.522																																					Ovarian(10;65 485 10258 29980 30707)												1	Substitution - Missense(1)	kidney(1)											114.0	93.0	100.0					17																	42936450		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1960A>G	17.37:g.42936450T>C	ENSP00000392094:p.Lys654Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	T	34	5.314916	0.95655	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.71698	-0.59;-0.59	6.03	6.03	0.97812	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89173	0.3538	10	0.87932	D	0	-12.7297	16.5582	0.84512	0.0:0.0:0.0:1.0	.	644;654	B4DMC0;Q15029	.;U5S1_HUMAN	E	654;644;619	ENSP00000392094:K654E;ENSP00000385873:K619E	ENSP00000262414:K644E	K	-	1	0	EFTUD2	40291976	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	AAG		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1		NM_004247	
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76491993	76491993	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:76491993C>T	ENST00000585328.1	-	38	5976	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.R1942H|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_5'Flank	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1942	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1951H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCTCCGCGCGTCCGGCGTA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											93.0	94.0	93.0					17																	76491993		2062	4237	6299	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5852G>A	17.37:g.76491993C>T	ENSP00000465516:p.Arg1951His	Somatic		WXS	Illumina HiSeq	Phase_I	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	c	18.71	3.682614	0.68157	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.15017	2.46	4.49	4.49	0.54785	.	.	.	.	.	T	0.57902	0.2085	H	0.96748	3.875	0.50313	D	0.999865	.	.	.	.	.	.	T	0.74910	-0.3503	7	0.87932	D	0	.	17.7846	0.88533	0.0:1.0:0.0:0.0	.	.	.	.	H	1951;1942	ENSP00000374490:R1942H	ENSP00000300671:R1951H	R	-	2	0	DNAH17	74003588	1.000000	0.71417	0.963000	0.40424	0.030000	0.12068	7.472000	0.80996	2.501000	0.84356	0.537000	0.68136	CGC		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628	
F8	2157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	154194857	154194857	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:154194857G>A	ENST00000360256.4	-	8	1315	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	372					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S372F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCATTTCAGAATCAGTAAG	0.398																																																	2	Substitution - Missense(2)	kidney(2)											202.0	155.0	171.0					X																	154194857		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1115C>T	X.37:g.154194857G>A	ENSP00000353393:p.Ser372Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772629	0.31411	.	.	ENSG00000185010	ENST00000360256	D	0.98835	-5.17	5.13	4.23	0.50019	.	0.964192	0.08594	N	0.922532	D	0.97993	0.9339	M	0.73962	2.25	0.09310	N	0.999999	P	0.45902	0.868	B	0.43052	0.406	D	0.93296	0.6672	10	0.72032	D	0.01	-0.3718	11.447	0.50129	0.0:0.0:0.6754:0.3245	.	372	P00451	FA8_HUMAN	F	372	ENSP00000353393:S372F	ENSP00000353393:S372F	S	-	2	0	F8	153848051	0.001000	0.12720	0.376000	0.26042	0.441000	0.31987	0.738000	0.26158	0.998000	0.38996	0.529000	0.55759	TCT		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96318810	96318810	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:96318810C>G	ENST00000277165.6	+	13	2615	c.2421C>G	c.(2419-2421)ttC>ttG	p.F807L	FAM120A_ENST00000340893.4_Missense_Mutation_p.F807L|FAM120A_ENST00000333936.5_Missense_Mutation_p.F835L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	807						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.F807L(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAAGCTCTTCCAATCCAAAC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											166.0	167.0	166.0					9																	96318810		2203	4300	6503	SO:0001583	missense	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.2421C>G	9.37:g.96318810C>G	ENSP00000277165:p.Phe807Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770879	0.49680	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.92	5.03	0.67393	.	0.069009	0.64402	D	0.000009	T	0.40372	0.1114	N	0.26042	0.785	0.44409	D	0.997322	B;B;B	0.26258	0.009;0.011;0.145	B;B;B	0.29353	0.006;0.008;0.101	T	0.29150	-1.0021	10	0.42905	T	0.14	-15.3522	10.6503	0.45645	0.0:0.7995:0.1318:0.0688	.	807;835;807	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	L	807;835;807;229	ENSP00000277165:F807L;ENSP00000334918:F835L;ENSP00000344698:F807L;ENSP00000412440:F229L	ENSP00000277165:F807L	F	+	3	2	FAM120A	95358631	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.652000	0.37313	1.520000	0.48965	0.655000	0.94253	TTC		0.522	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2		NM_014612	
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99144587	99144587	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:99144587A>C	ENST00000449309.1	-	2	1823	c.1444T>G	c.(1444-1446)Tca>Gca	p.S482A		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	482						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.S482A(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gtgaatgatgaactgagctgc	0.299																																																	1	Substitution - Missense(1)	kidney(1)											27.0	30.0	29.0					7																	99144587		1493	2618	4111	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1444T>G	7.37:g.99144587A>C	ENSP00000411372:p.Ser482Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	9.176	1.022252	0.19433	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.24151	1.87;1.87	1.69	1.69	0.24217	.	0.885835	0.09342	N	0.815391	T	0.12347	0.0300	N	0.17800	0.525	0.19775	N	0.999956	B	0.24823	0.112	B	0.24006	0.05	T	0.33599	-0.9862	10	0.02654	T	1	.	5.4497	0.16556	1.0:0.0:0.0:0.0	.	482	Q8TCP9	F200A_HUMAN	A	482	ENSP00000411372:S482A;ENSP00000386191:S482A	ENSP00000386191:S482A	S	-	1	0	FAM200A	98982523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.041000	0.41213	1.024000	0.39682	0.383000	0.25322	TCA		0.299	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1		NM_145111	
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99144589	99144589	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:99144589C>T	ENST00000449309.1	-	2	1821	c.1442G>A	c.(1441-1443)aGt>aAt	p.S481N		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	481						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.S481N(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gaatgatgaactgagctgcaa	0.303																																																	1	Substitution - Missense(1)	kidney(1)											26.0	29.0	28.0					7																	99144589		1493	2627	4120	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1442G>A	7.37:g.99144589C>T	ENSP00000411372:p.Ser481Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678840	0.47886	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.26518	1.73;1.73	1.69	1.69	0.24217	.	0.244264	0.25897	N	0.027583	T	0.38427	0.1040	M	0.73962	2.25	0.20975	N	0.999818	D	0.63046	0.992	P	0.58520	0.84	T	0.07046	-1.0793	10	0.37606	T	0.19	.	6.8453	0.23984	0.0:1.0:0.0:0.0	.	481	Q8TCP9	F200A_HUMAN	N	481	ENSP00000411372:S481N;ENSP00000386191:S481N	ENSP00000386191:S481N	S	-	2	0	FAM200A	98982525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.167000	0.16602	1.243000	0.43853	0.467000	0.42956	AGT		0.303	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1		NM_145111	
FCAR	2204	broad.mit.edu;hgsc.bcm.edu	37	19	55396904	55396904	+	Missense_Mutation	SNP	C	C	T	rs143972917		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:55396904C>T	ENST00000355524.3	+	3	338	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	FCAR_ENST00000359272.4_Missense_Mutation_p.R98W|FCAR_ENST00000391725.3_Missense_Mutation_p.R110W|FCAR_ENST00000391724.3_Missense_Mutation_p.R98W|FCAR_ENST00000391726.3_Missense_Mutation_p.R98W|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Missense_Mutation_p.R98W|FCAR_ENST00000345937.4_Missense_Mutation_p.R110W|FCAR_ENST00000469767.1_Missense_Mutation_p.R110W|FCAR_ENST00000353758.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	110					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R110W(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTACAGATTCCGGTACAGTGA	0.458																																																	2	Substitution - Missense(2)	kidney(2)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	62.0	64.0		328,328,328,292,292,292,,292,328	-2.3	0.0	19	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,intron,missense,missense	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2,NM_133279.2	101,101,101,101,101,101,,101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging	110/288,110/266,110/192,98/276,98/180,98/210,,98/254,110/240	55396904	2,13004	2203	4300	6503	SO:0001583	missense	2204			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.328C>T	19.37:g.55396904C>T	ENSP00000347714:p.Arg110Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205053	0.38905	2.27E-4	1.16E-4	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T;T	0.12774	2.75;2.65;2.65;2.75;2.65;2.65;2.65	3.18	-2.27	0.06846	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.454240	0.02391	N	0.079716	T	0.26159	0.0638	L	0.44542	1.39	0.09310	N	1	P;D;D;D;D;D;D;D	0.89917	0.522;1.0;1.0;0.998;0.999;1.0;0.998;1.0	B;P;D;P;D;P;P;D	0.64042	0.074;0.894;0.915;0.789;0.921;0.886;0.789;0.913	T	0.34650	-0.9820	10	0.87932	D	0	.	7.5722	0.27915	0.1153:0.5927:0.292:0.0	.	98;98;98;98;110;110;110;110	Q92588;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071;P24071-4	.;.;.;.;.;.;FCAR_HUMAN;.	W	110;98;110;110;110;98;98;98	ENSP00000375606:R98W;ENSP00000347714:R110W;ENSP00000375605:R110W;ENSP00000338257:R110W;ENSP00000352218:R98W;ENSP00000375603:R98W;ENSP00000375604:R98W	ENSP00000338257:R110W	R	+	1	2	FCAR	60088716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.219000	0.02973	-0.278000	0.09180	-0.310000	0.09108	CGG		0.458	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1		NM_002000	
FPGT-TNNI3K	100526835	broad.mit.edu;hgsc.bcm.edu	37	1	74819043	74819043	+	Splice_Site	SNP	T	T	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:74819043T>A	ENST00000370899.3	+	12	1366	c.1329T>A	c.(1327-1329)acT>acA	p.T443T	FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.T443T|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.T456T|TNNI3K_ENST00000326637.3_Splice_Site_p.T342T|TNNI3K_ENST00000370891.2_Splice_Site_p.T443T|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.T342T(1)									ATGGGCACACTGGTAAGACTG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	85.0	89.0					1																	74819043		2203	4300	6503	SO:0001630	splice_region_variant	100526835					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1330+1T>A	1.37:g.74819043T>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000370899.3	37																																																																																					0.418	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			Silent
FMN2	56776	broad.mit.edu	37	1	240370978	240370978	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:240370978C>A	ENST00000319653.9	+	5	3096	c.2866C>A	c.(2866-2868)Ccg>Acg	p.P956T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATACCCCCTCCGCCCCCTCT	0.697																																																	1	Substitution - Missense(1)	kidney(1)											21.0	25.0	24.0					1																	240370978		2203	4297	6500	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2866C>A	1.37:g.240370978C>A	ENSP00000318884:p.Pro956Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727412	0.15439	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	3.8	-0.779	0.10973	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.59609	0.2206	M	0.90483	3.12	0.54753	D	0.999987	B	0.26445	0.149	B	0.25884	0.064	T	0.52071	-0.8624	8	.	.	.	.	1.929	0.03323	0.1491:0.3829:0.2912:0.1768	.	956	Q9NZ56	FMN2_HUMAN	T	956	ENSP00000318884:P956T	.	P	+	1	0	FMN2	238437601	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.165000	0.03132	-0.203000	0.10251	-0.385000	0.06624	CCG		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	71804019	71804019	+	Silent	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:71804019G>T	ENST00000304411.2	+	1	819	c.819G>T	c.(817-819)ctG>ctT	p.L273L	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	273					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L273L(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCCTCGTGCTGGAAGAATTCA	0.711																																																	1	Substitution - coding silent(1)	kidney(1)											20.0	25.0	24.0					3																	71804019		2186	4300	6486	SO:0001819	synonymous_variant	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.819G>T	3.37:g.71804019G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000304411.2	37	CCDS2915.1																																																																																				0.711	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1		NM_018971	
GSTA3	2940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52764813	52764813	+	Silent	SNP	T	T	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr6:52764813T>C	ENST00000211122.3	-	5	398	c.333A>G	c.(331-333)ttA>ttG	p.L111L	GSTA3_ENST00000370968.1_Silent_p.L61L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	111	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L111L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGGTCGACATAAGGGCAGAA	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											187.0	169.0	175.0					6																	52764813		2203	4300	6503	SO:0001819	synonymous_variant	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.333A>G	6.37:g.52764813T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O43468|Q068V6|Q8WWA8|Q9H415	Silent	SNP	ENST00000211122.3	37	CCDS4947.1																																																																																				0.403	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			
HECTD3	79654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45471468	45471468	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:45471468G>T	ENST00000372172.4	-	15	2004	c.1933C>A	c.(1933-1935)Ctg>Atg	p.L645M	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.L255M	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	645	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L361M(1)|p.L255M(1)|p.L645M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTACTCACCAGCACAGAGTCC	0.547																																																	3	Substitution - Missense(3)	kidney(3)											76.0	78.0	77.0					1																	45471468		2104	4208	6312	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1933C>A	1.37:g.45471468G>T	ENSP00000361245:p.Leu645Met	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.827474	0.50845	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61859	0.07;0.07	5.07	3.2	0.36748	HECT (4);	0.000000	0.64402	D	0.000002	T	0.68256	0.2981	L	0.53671	1.685	0.54753	D	0.99998	D;D	0.76494	0.999;0.967	D;P	0.87578	0.998;0.693	T	0.68032	-0.5516	10	0.66056	D	0.02	.	9.8051	0.40789	0.2225:0.0:0.7775:0.0	.	645;255	Q5T447;Q5T447-2	HECD3_HUMAN;.	M	645;255	ENSP00000361245:L645M;ENSP00000361241:L255M	ENSP00000361241:L255M	L	-	1	2	HECTD3	45244055	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	2.996000	0.49449	0.718000	0.32166	0.561000	0.74099	CTG		0.547	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1		NM_024602	
IFI30	10437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18286174	18286174	+	Silent	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:18286174G>A	ENST00000407280.3	+	3	544	c.369G>A	c.(367-369)gaG>gaA	p.E123E	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	123					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)	p.E123E(1)		endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GAGAAGAGGAGTGCAAATTCA	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	45.0	44.0					19																	18286174		2027	4170	6197	SO:0001819	synonymous_variant	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.369G>A	19.37:g.18286174G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Silent	SNP	ENST00000407280.3	37	CCDS46015.1																																																																																				0.597	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3		NM_006332	
IL36G	56300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113736198	113736198	+	5'UTR	SNP	T	T	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:113736198T>A	ENST00000259205.4	+	0	52				IL36G_ENST00000376489.2_5'UTR	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma						cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTTTCACAGGTGCTGAGACAA	0.517																																																	0													115.0	109.0	111.0					2																	113736198		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.-18T>A	2.37:g.113736198T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q56B91|Q6UVX7|Q7RTZ9	Splice_Site	SNP	ENST00000259205.4	37	CCDS2108.1																																																																																				0.517	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2		NM_019618	
JAG2	3714	broad.mit.edu	37	14	105618587	105618587	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:105618587A>G	ENST00000331782.3	-	6	1233	c.830T>C	c.(829-831)gTc>gCc	p.V277A	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.V277A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	277	EGF-like 2; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.V277A(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGGTAGGGGACACACTCATC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											64.0	51.0	56.0					14																	105618587		2202	4300	6502	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.830T>C	14.37:g.105618587A>G	ENSP00000328169:p.Val277Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651208	0.47362	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.54479	0.57;0.57	3.49	3.49	0.39957	Epidermal growth factor-like (1);	0.382580	0.23512	U	0.047400	T	0.60392	0.2265	M	0.62209	1.925	0.34836	D	0.740179	P;D	0.55800	0.868;0.973	P;P	0.56042	0.79;0.633	T	0.70051	-0.4978	10	0.42905	T	0.14	.	10.254	0.43385	1.0:0.0:0.0:0.0	.	277;277	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	A	277	ENSP00000328169:V277A;ENSP00000328566:V277A	ENSP00000328169:V277A	V	-	2	0	JAG2	104689632	0.032000	0.19561	0.945000	0.38365	0.157000	0.22087	2.894000	0.48640	1.353000	0.45828	0.255000	0.18592	GTC		0.632	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			
KANK3	256949	hgsc.bcm.edu	37	19	8389893	8389895	+	In_Frame_Del	DEL	TCC	TCC	-	rs367746100|rs111905975	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:8389893_8389895delTCC	ENST00000593649.1	-	8	2087_2089	c.2022_2024delGGA	c.(2020-2025)gaggac>gac	p.E674del	KANK3_ENST00000330915.3_In_Frame_Del_p.E674del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	674										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CACAGCCATGTCCTCCTCTTCCT	0.626														770	0.153754	0.2958	0.1383	5008	,	,		19550	0.0655		0.1223	False		,,,				2504	0.0961																0										1092,3172		142,808,1182						3.3	1.0		dbSNP_132	62	1089,7165		100,889,3138	no	coding	KANK3	NM_198471.2		242,1697,4320	A1A1,A1R,RR		13.1936,25.6098,17.4229				2181,10337				SO:0001651	inframe_deletion	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2022_2024delGGA	19.37:g.8389896_8389898delTCC	ENSP00000470728:p.Glu674del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37																																																																																					0.626	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1		NM_198471	
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67049417	67049417	+	Missense_Mutation	SNP	C	C	G	rs552167639	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:67049417C>G	ENST00000417314.2	+	2	78	c.29C>G	c.(28-30)tCt>tGt	p.S10C	KBTBD8_ENST00000295568.4_5'UTR|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	10						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.S10C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTAAGTAAGTCTTCCCCAACA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											69.0	66.0	67.0					3																	67049417		2202	4300	6502	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.29C>G	3.37:g.67049417C>G	ENSP00000401878:p.Ser10Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107730	0.37242	.	.	ENSG00000163376	ENST00000417314	T	0.73047	-0.71	5.37	1.22	0.21188	.	.	.	.	.	T	0.41442	0.1159	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	9	0.59425	D	0.04	.	3.4028	0.07330	0.1646:0.2336:0.4845:0.1174	.	10	Q8NFY9	KBTB8_HUMAN	C	10	ENSP00000401878:S10C	ENSP00000401878:S10C	S	+	2	0	KBTBD8	67132107	1.000000	0.71417	0.978000	0.43139	0.969000	0.65631	2.246000	0.43142	0.696000	0.31696	0.467000	0.42956	TCT		0.468	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505	
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67049444	67049444	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:67049444C>G	ENST00000417314.2	+	2	105	c.56C>G	c.(55-57)tCt>tGt	p.S19C	KBTBD8_ENST00000295568.4_5'UTR|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	19						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.S19C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGATTCCATCTTCAGACCCA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											88.0	81.0	83.0					3																	67049444		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.56C>G	3.37:g.67049444C>G	ENSP00000401878:p.Ser19Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476587	0.63737	.	.	ENSG00000163376	ENST00000417314	T	0.72725	-0.68	5.52	4.64	0.57946	.	.	.	.	.	T	0.58892	0.2154	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55724	-0.8096	9	0.56958	D	0.05	.	16.628	0.84984	0.0:0.8697:0.1303:0.0	.	19	Q8NFY9	KBTB8_HUMAN	C	19	ENSP00000401878:S19C	ENSP00000401878:S19C	S	+	2	0	KBTBD8	67132134	1.000000	0.71417	0.983000	0.44433	0.945000	0.59286	4.430000	0.59907	1.442000	0.47568	0.467000	0.42956	TCT		0.468	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505	
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67049590	67049590	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:67049590C>G	ENST00000417314.2	+	2	251	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	KBTBD8_ENST00000295568.4_Missense_Mutation_p.L42V|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	68	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.L42V(1)|p.L68V(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TAGAAACGTTCTTGCTGCAAT	0.428																																																	2	Substitution - Missense(2)	kidney(2)											183.0	171.0	175.0					3																	67049590		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.202C>G	3.37:g.67049590C>G	ENSP00000401878:p.Leu68Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258681	0.80246	.	.	ENSG00000163376	ENST00000295568;ENST00000417314;ENST00000460784	D;D;D	0.89485	-2.52;-2.52;-2.52	5.43	5.43	0.79202	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.123151	0.56097	D	0.000026	D	0.95999	0.8697	H	0.96015	3.755	0.51233	D	0.999918	D	0.76494	0.999	D	0.80764	0.994	D	0.96631	0.9467	10	0.87932	D	0	.	12.9082	0.58164	0.0:0.9255:0.0:0.0745	.	68	Q8NFY9	KBTB8_HUMAN	V	42;68;42	ENSP00000295568:L42V;ENSP00000401878:L68V;ENSP00000418075:L42V	ENSP00000295568:L42V	L	+	1	0	KBTBD8	67132280	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.754000	0.85163	2.708000	0.92522	0.467000	0.42956	CTT		0.428	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505	
KDM5C	8242	hgsc.bcm.edu	37	X	53222460	53222460	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4710-01A-01W-1528-10	TCGA-B0-4710-11A-02W-1528-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0a4d83b9-b7a5-4ab4-b9ca-92627f361b07	d71c3e47-a16b-4744-94f8-301369d6774b	g.chrX:53222460G>A	ENST00000375401.3	-	26	4904	c.4372C>T	c.(4372-4374)Cgg>Tgg	p.R1458W	KDM5C_ENST00000375379.3_Missense_Mutation_p.R1455W|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.R1414W|KDM5C_ENST00000404049.3_Missense_Mutation_p.R1457W	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1458					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGCCGCCGCCGCCTCTCCAGG	0.667			"""N, F, S"""		clear cell renal carcinoma																																	.		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													17.0	16.0	16.0					X																	53222460		2191	4271	6462	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4372C>T	X.37:g.53222460G>A	ENSP00000364550:p.Arg1458Trp	Somatic		WXS	Illumina MiSeq	Phase_I	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	15.00	2.702256	0.48307	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85702	-1.87;-1.87;-1.87;-2.02	3.97	0.689	0.18033	.	0.384012	0.21197	U	0.078538	D	0.88815	0.6539	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.87056	0.2150	10	0.87932	D	0	-15.3545	10.2919	0.43601	0.0:0.0:0.3597:0.6403	.	1457;1458	B0QZ44;P41229	.;KDM5C_HUMAN	W	1458;1457;1455;1414	ENSP00000364550:R1458W;ENSP00000385394:R1457W;ENSP00000364528:R1455W;ENSP00000364532:R1414W	ENSP00000364528:R1455W	R	-	1	2	KDM5C	53239185	0.734000	0.28142	0.997000	0.53966	0.995000	0.86356	0.350000	0.20079	0.172000	0.19760	0.407000	0.27541	CGG		0.667	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KIAA0368	23392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114159361	114159361	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:114159361C>A	ENST00000338205.5	-	24	2944	c.2725G>T	c.(2725-2727)Gct>Tct	p.A909S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1087S			Q5VYK3	ECM29_HUMAN	KIAA0368	915					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)		p.A1087S(1)		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						TCTCGGGCAGCCACAGAACTA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											109.0	107.0	108.0					9																	114159361		1890	4109	5999	SO:0001583	missense	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	ENST00000338205.5:c.2725G>T	9.37:g.114159361C>A	ENSP00000339889:p.Ala909Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471120	0.63625	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.44482	0.92	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.50333	1.59	0.80722	D	1	B	0.29988	0.264	B	0.26864	0.074	T	0.17471	-1.0368	10	0.18276	T	0.48	-12.5349	19.3973	0.94612	0.0:1.0:0.0:0.0	.	384	B3KXF2	.	S	909;1087;384	ENSP00000259335:A1087S	ENSP00000259335:A1087S	A	-	1	0	KIAA0368	113199182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.687000	0.68219	2.660000	0.90430	0.655000	0.94253	GCT		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686	
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10318553	10318553	+	Silent	SNP	C	C	T	rs141998703	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:10318553C>T	ENST00000377086.1	+	4	388	c.186C>T	c.(184-186)ccC>ccT	p.P62P	KIF1B_ENST00000377083.1_Silent_p.P62P|KIF1B_ENST00000377093.4_Silent_p.P62P|KIF1B_ENST00000263934.6_Silent_p.P62P|KIF1B_ENST00000377081.1_Silent_p.P62P			O60333	KIF1B_HUMAN	kinesin family member 1B	62	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.P62P(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTTACAGCCCGAAGATCCCT	0.353													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18586	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)						C	,	9,4397	14.3+/-33.2	0,9,2194	107.0	103.0	105.0		186,186	-3.3	1.0	1	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	KIF1B	NM_015074.3,NM_183416.3	,	0,11,6492	TT,TC,CC		0.0233,0.2043,0.0846	,	62/1771,62/1154	10318553	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.186C>T	1.37:g.10318553C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																					0.353	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			
LGALS9B	284194	hgsc.bcm.edu	37	17	20370782	20370783	+	Start_Codon_Ins	INS	-	-	TC	rs10687699|rs554373055|rs372509656	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								carbohydrate binding (GO:0030246)	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584														831	0.165935	0.2504	0.1326	5008	,	,		9041	0.127		0.1481	False		,,,				2504	0.1339																1	Insertion - Frameshift(1)	central_nervous_system(1)								372,1470		152,68,701						2.5	0.7		dbSNP_130	3	715,5069		234,247,2411	no	frameshift	LGALS9B	NM_001042685.1		386,315,3112	A1A1,A1R,RR		12.3617,20.1954,14.2539				1087,6539				SO:0001582	initiator_codon_variant	284194				CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.0_1dupGA	17.37:g.20370785_20370786dupTC		Somatic		WXS	Illumina HiSeq	Phase_I	A6NLF8|A8K2J8	Frame_Shift_Ins	INS	ENST00000423676.3	37																																																																																					0.584	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2		NM_001042685	
LILRA2	11027	broad.mit.edu;ucsc.edu	37	19	55085835	55085835	+	Silent	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:55085835C>A	ENST00000251377.3	+	4	271	c.138C>A	c.(136-138)acC>acA	p.T46T	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.T46T|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.T34T|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.T46T			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	46	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T46T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTCCTGTGACCCTCAGGTGTC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	96.0	95.0					19																	55085835		2203	4300	6503	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.138C>A	19.37:g.55085835C>A		Somatic		WXS	Illumina GAIIx	Phase_I	O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.542	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			
MAOA	4128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	43571201	43571201	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:43571201C>T	ENST00000338702.3	+	4	512	c.389C>T	c.(388-390)aCa>aTa	p.T130I	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	130					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.T130I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGTGGAGGACAATAGATAAC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											135.0	124.0	128.0					X																	43571201		2203	4300	6503	SO:0001583	missense	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.389C>T	X.37:g.43571201C>T	ENSP00000340684:p.Thr130Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578248	0.28180	.	.	ENSG00000189221	ENST00000338702	D	0.92249	-3.0	5.48	4.59	0.56863	Amine oxidase (1);	0.144865	0.64402	D	0.000008	D	0.91043	0.7182	M	0.66439	2.03	0.80722	D	1	B	0.30104	0.268	B	0.32583	0.148	D	0.88482	0.3069	10	0.45353	T	0.12	.	14.5407	0.67990	0.1475:0.8525:0.0:0.0	.	130	P21397	AOFA_HUMAN	I	130	ENSP00000340684:T130I	ENSP00000340684:T130I	T	+	2	0	MAOA	43456145	1.000000	0.71417	0.984000	0.44739	0.113000	0.19764	3.859000	0.55987	1.025000	0.39708	0.508000	0.49915	ACA		0.393	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1		NM_000240	
MAGEC1	9947	broad.mit.edu;ucsc.edu	37	X	140996270	140996270	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:140996270G>C	ENST00000285879.4	+	4	3366	c.3080G>C	c.(3079-3081)gGg>gCg	p.G1027A	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G94A	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1027	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G1027A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGAATAGGGGTGCGTGCT	0.542										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	kidney(1)											87.0	81.0	83.0					X																	140996270		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3080G>C	X.37:g.140996270G>C	ENSP00000285879:p.Gly1027Ala	Somatic		WXS	Illumina GAIIx	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.976	0.750117	0.15778	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.08634	3.07;3.07	0.484	0.484	0.16825	.	.	.	.	.	T	0.32224	0.0822	M	0.93106	3.38	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.04811	-1.0925	8	0.87932	D	0	.	.	.	.	.	1027	O60732	MAGC1_HUMAN	A	1027;94	ENSP00000285879:G1027A;ENSP00000385500:G94A	ENSP00000285879:G1027A	G	+	2	0	MAGEC1	140823936	0.001000	0.12720	0.032000	0.17829	0.232000	0.25224	0.410000	0.21098	0.491000	0.27793	0.279000	0.19357	GGG		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MAGEA10	4109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151303633	151303633	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:151303633G>T	ENST00000370323.4	-	4	776	c.460C>A	c.(460-462)Ccg>Acg	p.P154T	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P154T	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	154	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.P154T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGATCGGCTCCTTCATT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											106.0	102.0	103.0					X																	151303633		2203	4300	6503	SO:0001583	missense	4109				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.460C>A	X.37:g.151303633G>T	ENSP00000359347:p.Pro154Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000370323.4	37	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	3.717	-0.058390	0.07317	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.08546	3.34;3.34;3.34;3.08	2.68	-2.28	0.06826	.	0.342563	0.31301	N	0.007882	T	0.20780	0.0500	M	0.94021	3.485	0.09310	N	1	P	0.52170	0.951	P	0.56127	0.792	T	0.12811	-1.0533	10	0.51188	T	0.08	.	1.0168	0.01509	0.138:0.1873:0.2929:0.3818	.	154	P43363	MAGAA_HUMAN	T	154	ENSP00000359347:P154T;ENSP00000244096:P154T;ENSP00000406161:P154T;ENSP00000391977:P154T	ENSP00000244096:P154T	P	-	1	0	MAGEA10	151054289	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.387000	0.20718	-0.738000	0.04817	0.292000	0.19580	CCG		0.443	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3		NM_021048	
MBLAC2	153364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89757120	89757120	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:89757120A>C	ENST00000316610.6	-	2	1179	c.704T>G	c.(703-705)tTt>tGt	p.F235C		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	235						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F235C(1)		kidney(1)|liver(1)|lung(3)	5						TTCAGCACCAAAGGTATTGAA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											93.0	89.0	90.0					5																	89757120		2203	4300	6503	SO:0001583	missense	153364			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.704T>G	5.37:g.89757120A>C	ENSP00000314776:p.Phe235Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969785	0.74246	.	.	ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000556122;ENST00000546270	T	0.46451	0.87	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73056	-0.4103	10	0.87932	D	0	-5.1307	16.6438	0.85155	1.0:0.0:0.0:0.0	.	235	Q68D91	MBLC2_HUMAN	C	235;235;165	ENSP00000314776:F235C	ENSP00000314776:F235C	F	-	2	0	AC093510.2;MBLAC2	89792876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.239000	0.89811	2.333000	0.79357	0.533000	0.62120	TTT		0.408	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2		NM_203406	
METAP1	23173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	99955422	99955422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr4:99955422G>T	ENST00000296411.6	+	3	342	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	METAP1_ENST00000506548.1_3'UTR|METAP1_ENST00000544031.1_Nonsense_Mutation_p.E20*	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	70					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.E70*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CTGGACTGTGGAAGGTGATAT	0.428																																																	1	Substitution - Nonsense(1)	kidney(1)											154.0	131.0	138.0					4																	99955422		692	1591	2283	SO:0001587	stop_gained	23173			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.208G>T	4.37:g.99955422G>T	ENSP00000296411:p.Glu70*	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2E6	Nonsense_Mutation	SNP	ENST00000296411.6	37	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243687	0.95272	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	.	.	.	5.24	5.24	0.73138	.	0.105502	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.89	17.0421	0.86492	0.0:0.0:1.0:0.0	.	.	.	.	X	70;20	.	.	E	+	1	0	METAP1	100174445	1.000000	0.71417	0.947000	0.38551	0.967000	0.64934	8.046000	0.89438	2.456000	0.83038	0.655000	0.94253	GAA		0.428	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1		NM_015143	
MGAT4A	11320	broad.mit.edu;ucsc.edu	37	2	99272830	99272830	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:99272830G>A	ENST00000264968.3	-	6	1046	c.683C>T	c.(682-684)tCc>tTc	p.S228F	MGAT4A_ENST00000409391.1_Missense_Mutation_p.S228F|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Missense_Mutation_p.S228F|MGAT4A_ENST00000414521.2_Missense_Mutation_p.S100F			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	228					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.S228F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TCTTTCTTTGGAGTCTCCAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											157.0	164.0	162.0					2																	99272830		2203	4300	6503	SO:0001583	missense	11320			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.683C>T	2.37:g.99272830G>A	ENSP00000264968:p.Ser228Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623143	0.87460	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.88241	2.94	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.99;0.977;0.998	T	0.79509	-0.1774	10	0.66056	D	0.02	-3.4992	18.3238	0.90246	0.0:0.0:1.0:0.0	.	100;100;228	E9PEN2;B4E2R6;Q9UM21	.;.;MGT4A_HUMAN	F	228;100;228;228	ENSP00000377127:S228F;ENSP00000404889:S100F;ENSP00000264968:S228F;ENSP00000386841:S228F	ENSP00000264968:S228F	S	-	2	0	MGAT4A	98639262	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	9.467000	0.97671	2.571000	0.86741	0.585000	0.79938	TCC		0.368	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2		NM_012214	
MOGAT2	80168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75439854	75439854	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:75439854T>C	ENST00000198801.5	+	5	740	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L	MOGAT2_ENST00000526712.1_Missense_Mutation_p.F142L	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	224					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.F224L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGTGCCAATCTTCTCCTTCGG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											87.0	87.0	87.0					11																	75439854		2200	4293	6493	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.670T>C	11.37:g.75439854T>C	ENSP00000198801:p.Phe224Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403135	0.62288	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.16597	2.33;2.33	6.17	6.17	0.99709	.	0.142318	0.64402	D	0.000004	T	0.30355	0.0762	M	0.65975	2.015	0.80722	D	1	P	0.41848	0.763	P	0.48571	0.582	T	0.01136	-1.1440	10	0.30854	T	0.27	-6.9472	15.6572	0.77150	0.0:0.0:0.0:1.0	.	224	Q3SYC2	MOGT2_HUMAN	L	224;142	ENSP00000198801:F224L;ENSP00000436283:F142L	ENSP00000198801:F224L	F	+	1	0	MOGAT2	75117502	1.000000	0.71417	0.976000	0.42696	0.360000	0.29518	7.654000	0.83653	2.371000	0.80710	0.533000	0.62120	TTC		0.537	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1		NM_025098	
MTNR1B	4544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92714908	92714908	+	Silent	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:92714908G>C	ENST00000257068.2	+	2	525	c.519G>C	c.(517-519)ctG>ctC	p.L173L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	173					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.L173L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGCCTTGCTGCCCAACTTCT	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	103.0	104.0					11																	92714908		2201	4298	6499	SO:0001819	synonymous_variant	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.519G>C	11.37:g.92714908G>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000257068.2	37	CCDS8290.1																																																																																				0.612	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			
MUC4	4585	broad.mit.edu	37	3	195505867	195505867	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:195505867A>T	ENST00000463781.3	-	2	13043	c.12584T>A	c.(12583-12585)gTc>gAc	p.V4195D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V4195D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4195D(6)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTGTCGGTGACAGGAAGAGG	0.607																																																	6	Substitution - Missense(6)	endometrium(3)|kidney(3)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12584T>A	3.37:g.195505867A>T	ENSP00000417498:p.Val4195Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	0.384	-0.927152	0.02377	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36157	1.42;1.27	.	.	.	.	.	.	.	.	T	0.34513	0.0900	N	0.19112	0.55	0.29126	N	0.879938	D	0.67145	0.996	D	0.69479	0.964	T	0.27938	-1.0059	7	.	.	.	.	4.4413	0.11575	0.3374:0.0:0.6626:0.0	.	4067	E7ESK3	.	D	4195	ENSP00000417498:V4195D;ENSP00000420243:V4195D	.	V	-	2	0	MUC4	196990646	0.000000	0.05858	0.033000	0.17914	0.055000	0.15305	-2.347000	0.01095	-0.475000	0.06852	0.063000	0.15292	GTC		0.607	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195506746	195506746	+	Missense_Mutation	SNP	G	G	A	rs192522651		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:195506746G>A	ENST00000463781.3	-	2	12164	c.11705C>T	c.(11704-11706)gCc>gTc	p.A3902V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A3902V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A3902V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGGGTGGCGTGACGTGT	0.597																																																	2	Substitution - Missense(2)	kidney(2)											10.0	9.0	9.0					3																	195506746		528	1056	1584	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11705C>T	3.37:g.195506746G>A	ENSP00000417498:p.Ala3902Val	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	108	0.04945054945054945	8	0.016260162601626018	19	0.052486187845303865	56	0.0979020979020979	25	0.032981530343007916	g	7.407	0.633932	0.14322	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.45;1.42	.	.	.	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.09377	0.004	T	0.24048	-1.0171	7	.	.	.	.	2.8356	0.05513	3.0E-4:2.0E-4:0.5012:0.4983	.	3774	E7ESK3	.	V	3902	ENSP00000417498:A3902V;ENSP00000420243:A3902V	.	A	-	2	0	MUC4	196991525	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.241000	0.18065	0.064000	0.16427	0.064000	0.15345	GCC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195506775	195506775	+	Silent	SNP	G	G	A	rs79609066	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:195506775G>A	ENST00000463781.3	-	2	12135	c.11676C>T	c.(11674-11676)acC>acT	p.T3892T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T3892T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3892T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.592													.|||	23	0.00459265	0.0	0.0014	5008	,	,		8217	0.0		0.0	False		,,,				2504	0.0225																1	Substitution - coding silent(1)	kidney(1)											11.0	9.0	10.0					3																	195506775		565	1303	1868	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11676C>T	3.37:g.195506775G>A		Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50812921	50812921	+	Silent	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:50812921C>G	ENST00000596571.1	+	40	5862	c.5862C>G	c.(5860-5862)acC>acG	p.T1954T	CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000598205.1_Silent_p.T1962T|MYH14_ENST00000440075.2_Silent_p.T1995T|MYH14_ENST00000262269.8_Silent_p.T1995T|MYH14_ENST00000425460.1_Silent_p.T1962T|MYH14_ENST00000376970.2_Silent_p.T1987T|MYH14_ENST00000601313.1_Silent_p.T1995T			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1954					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1995T(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCTTCACCACCCGCACGGTGC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											23.0	25.0	24.0					19																	50812921		1986	4157	6143	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5862C>G	19.37:g.50812921C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.657	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2		NM_024729	
MYO19	80179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34857066	34857066	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:34857066G>T	ENST00000431794.3	-	22	2612	c.2090C>A	c.(2089-2091)cCa>cAa	p.P697Q	MYO19_ENST00000268852.9_Missense_Mutation_p.P497Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	697	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P697Q(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCGCTGTGTGGACACCATTC	0.567																																																	2	Substitution - Missense(2)	kidney(2)											58.0	60.0	59.0					17																	34857066		2124	4240	6364	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2090C>A	17.37:g.34857066G>T	ENSP00000409936:p.Pro697Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	2.512	-0.312797	0.05422	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89050	-2.22;-2.46	4.52	2.5	0.30297	Myosin head, motor domain (1);	0.374902	0.19507	N	0.112582	D	0.85796	0.5780	L	0.51422	1.61	0.18873	N	0.999983	B;P	0.44195	0.048;0.828	B;P	0.47705	0.031;0.555	T	0.74200	-0.3742	10	0.23302	T	0.38	.	6.2879	0.21043	0.2321:0.0:0.7679:0.0	.	697;497	Q96H55;Q96H55-4	MYO19_HUMAN;.	Q	697;497	ENSP00000409936:P697Q;ENSP00000268852:P497Q	ENSP00000268852:P497Q	P	-	2	0	MYO19	31931179	0.005000	0.15991	0.005000	0.12908	0.015000	0.08874	0.310000	0.19356	0.616000	0.30141	0.462000	0.41574	CCA		0.567	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1		NM_025109	
MYT1L	23040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1927018	1927018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:1927018delA	ENST00000399161.2	-	10	1270	c.523delT	c.(523-525)tgtfs	p.C175fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C175fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	175					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTATTGTGACAATTCATTTGA	0.343																																																	0													42.0	37.0	39.0					2																	1927018		1861	4114	5975	SO:0001589	frameshift_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.523delT	2.37:g.1927018delA	ENSP00000382114:p.Cys175fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37																																																																																					0.343	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025	
NLRP5	126206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56552314	56552314	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:56552314C>T	ENST00000390649.3	+	11	2813	c.2813C>T	c.(2812-2814)aCg>aTg	p.T938M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	938					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.T938M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATCACAGCCACGGGTTGCCAG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											73.0	72.0	72.0					19																	56552314		2006	4191	6197	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2813C>T	19.37:g.56552314C>T	ENSP00000375063:p.Thr938Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101867	0.37048	.	.	ENSG00000171487	ENST00000390649	T	0.53640	0.61	4.37	-1.11	0.09840	.	1.358130	0.05646	N	0.584366	T	0.47507	0.1449	L	0.38838	1.175	0.09310	N	1	D	0.65815	0.995	P	0.57911	0.829	T	0.36504	-0.9745	10	0.62326	D	0.03	.	1.5208	0.02515	0.1632:0.4646:0.1594:0.2128	.	938	P59047	NALP5_HUMAN	M	938	ENSP00000375063:T938M	ENSP00000375063:T938M	T	+	2	0	NLRP5	61244126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.316000	0.08071	-0.152000	0.11156	-1.087000	0.02190	ACG		0.537	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447	
NPHP1	4867	hgsc.bcm.edu;ucsc.edu	37	2	110922107	110922107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:110922107delG	ENST00000393272.3	-	8	1026	c.929delC	c.(928-930)cctfs	p.P310fs	NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000316534.4_Frame_Shift_Del_p.P310fs	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	310					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGGAGCACAGGCTTAGAAAC	0.383																																																	0													140.0	133.0	135.0					2																	110922107		2203	4300	6503	SO:0001589	frameshift_variant	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.929delC	2.37:g.110922107delG	ENSP00000376953:p.Pro310fs	Somatic		WXS	Illumina HiSeq	Phase_I	O14837	Frame_Shift_Del	DEL	ENST00000393272.3	37	CCDS46385.1																																																																																				0.383	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3		NM_000272	
NR6A1	2649	hgsc.bcm.edu;ucsc.edu	37	9	127298262	127298262	+	Frame_Shift_Del	DEL	T	T	-	rs147044555		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:127298262delT	ENST00000487099.2	-	7	1131	c.974delA	c.(973-975)cagfs	p.Q325fs	NR6A1_ENST00000344523.4_Frame_Shift_Del_p.Q324fs|NR6A1_ENST00000416460.2_Frame_Shift_Del_p.Q320fs|NR6A1_ENST00000373584.3_Frame_Shift_Del_p.Q321fs	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	325					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GATTAGCTCCTGCCACGTAGA	0.512																																					Esophageal Squamous(192;272 2884 6208 20560)												0													137.0	112.0	120.0					9																	127298262		2203	4300	6503	SO:0001589	frameshift_variant	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.974delA	9.37:g.127298262delT	ENSP00000420267:p.Gln325fs	Somatic		WXS	Illumina HiSeq	Phase_I	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Frame_Shift_Del	DEL	ENST00000487099.2	37	CCDS35137.1																																																																																				0.512	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			
OR5T3	390154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56020415	56020415	+	Missense_Mutation	SNP	C	C	A	rs149435695		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:56020415C>A	ENST00000303059.3	+	1	740	c.740C>A	c.(739-741)tCc>tAc	p.S247Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S247Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTCCTCATTTCCTGTGATTTC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											252.0	228.0	236.0					11																	56020415		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.740C>A	11.37:g.56020415C>A	ENSP00000305403:p.Ser247Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831488	0.32329	.	.	ENSG00000172489	ENST00000303059	T	0.46063	0.88	4.65	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000248	T	0.77798	0.4184	H	0.98901	4.365	0.30985	N	0.722022	D	0.89917	1.0	D	0.75484	0.986	D	0.85108	0.0961	10	0.87932	D	0	.	14.5716	0.68216	0.1473:0.8527:0.0:0.0	.	247	Q8NGG3	OR5T3_HUMAN	Y	247	ENSP00000305403:S247Y	ENSP00000305403:S247Y	S	+	2	0	OR5T3	55776991	0.996000	0.38824	0.011000	0.14972	0.007000	0.05969	4.202000	0.58446	1.296000	0.44742	0.643000	0.83706	TCC		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1		NM_001004747	
PABPC5	140886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	90691460	90691460	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:90691460A>C	ENST00000312600.3	+	2	1098	c.884A>C	c.(883-885)gAa>gCa	p.E295A	PABPC5_ENST00000373105.1_Missense_Mutation_p.E131A|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	295						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E295A(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGGTTAAAAGAAAAAAGTCGG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											31.0	33.0	32.0					X																	90691460		2202	4297	6499	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.884A>C	X.37:g.90691460A>C	ENSP00000308012:p.Glu295Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644760	0.29246	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.99;1.94	4.14	4.14	0.48551	.	0.207646	0.49305	D	0.000146	T	0.05410	0.0143	N	0.00621	-1.32	0.40687	D	0.982362	B	0.30889	0.299	B	0.17098	0.017	T	0.27297	-1.0078	10	0.41790	T	0.15	.	8.6145	0.33822	1.0:0.0:0.0:0.0	.	295	Q96DU9	PABP5_HUMAN	A	131;295;263	ENSP00000362197:E131A;ENSP00000308012:E295A	ENSP00000308012:E295A	E	+	2	0	PABPC5	90578116	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.306000	0.72810	1.854000	0.53819	0.430000	0.28490	GAA		0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1		NM_080832	
PCDHGB4	8641	hgsc.bcm.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-	rs145222727|rs370380135	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	TGCCAG	TGCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctgccagtg>ctg	p.PV15del	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	15					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166	0.033147	0.0045	0.0476	5008	,	,		16199	0.0		0.0944	False		,,,				2504	0.0327																1	Deletion - In frame(1)	prostate(1)							,,,,,,,,,,,	50,3074		6,38,1518					,,,,,,,,,,,	3.7	0.9		dbSNP_134	6	518,6570		64,390,3090	no	coding,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032098.1,NM_018924.2,NM_018923.2,NM_018922.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018912.2,NM_003736.2	,,,,,,,,,,,	70,428,4608	A1A1,A1R,RR		7.3081,1.6005,5.5621	,,,,,,,,,,,	,,,,,,,,,,,		568,9644				SO:0001651	inframe_deletion	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.41_46delTGCCAG	5.37:g.140767492_140767497delTGCCAG	ENSP00000428288:p.Pro15_Val16del	Somatic	1658	WXS	Illumina HiSeq	Phase_I	O15099|Q2M267|Q9UN64	In_Frame_Del	DEL	ENST00000519479.1	37	CCDS54928.1																																																																																				0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736	
PEX1	5189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92136429	92136429	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:92136429G>C	ENST00000248633.4	-	10	1777	c.1682C>G	c.(1681-1683)tCc>tGc	p.S561C	PEX1_ENST00000428214.1_Missense_Mutation_p.S561C|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.S239C	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	561					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.S561C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TACGCCTAAGGAATTCACTCC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											65.0	65.0	65.0					7																	92136429		2203	4300	6503	SO:0001583	missense	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1682C>G	7.37:g.92136429G>C	ENSP00000248633:p.Ser561Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000207	0.35320	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94793	-3.43;-3.44;-3.52	5.92	4.97	0.65823	.	0.567780	0.20879	N	0.084027	D	0.91033	0.7179	L	0.36672	1.1	0.80722	D	1	P;P;P	0.48162	0.906;0.761;0.761	B;B;B	0.43018	0.405;0.24;0.24	D	0.91075	0.4895	10	0.72032	D	0.01	-5.1172	11.2295	0.48903	0.0:0.0:0.6977:0.3023	.	239;353;561	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	C	239;561;561;561	ENSP00000410438:S239C;ENSP00000248633:S561C;ENSP00000394413:S561C	ENSP00000248633:S561C	S	-	2	0	PEX1	91974365	0.519000	0.26242	0.292000	0.24919	0.071000	0.16799	3.338000	0.52128	2.794000	0.96219	0.650000	0.86243	TCC		0.428	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466	
PLCB4	5332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9382178	9382178	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr20:9382178A>C	ENST00000378493.1	+	17	1567	c.1552A>C	c.(1552-1554)Aat>Cat	p.N518H	PLCB4_ENST00000278655.4_Missense_Mutation_p.N518H|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.N518H|PLCB4_ENST00000414679.2_Missense_Mutation_p.N518H|PLCB4_ENST00000378501.2_Missense_Mutation_p.N518H|PLCB4_ENST00000378473.3_Missense_Mutation_p.N518H			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	518					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.N518H(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAAATTTGGAAATGAACTTTC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											67.0	61.0	63.0					20																	9382178		2203	4300	6503	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1552A>C	20.37:g.9382178A>C	ENSP00000367754:p.Asn518His	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338313	0.60963	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22743	2.17;2.14;2.17;2.17;2.17;1.94	6.08	6.08	0.98989	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.714986	0.15119	N	0.279521	T	0.20820	0.0501	N	0.22421	0.69	0.32142	N	0.585406	B;P;B;B	0.37708	0.127;0.606;0.042;0.084	B;B;B;B	0.40285	0.237;0.325;0.037;0.115	T	0.15235	-1.0444	10	0.52906	T	0.07	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	518;365;518;518	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	H	518;518;518;518;518;354	ENSP00000334105:N518H;ENSP00000367734:N518H;ENSP00000278655:N518H;ENSP00000367754:N518H;ENSP00000367762:N518H;ENSP00000390616:N354H	ENSP00000278655:N518H	N	+	1	0	PLCB4	9330178	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.661000	0.54503	2.333000	0.79357	0.533000	0.62120	AAT		0.458	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			
PLEKHA5	54477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	19436378	19436378	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr12:19436378G>C	ENST00000299275.6	+	11	1466	c.1460G>C	c.(1459-1461)gGa>gCa	p.G487A	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G487A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G379A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G487A|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.G487A|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G487A|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.G245A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G379A|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G487A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G493A	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	487					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.G487A(1)|p.G493A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTAGGACCCGGAGCGGAGGAG	0.498																																					Pancreas(196;329 2193 11246 14234 19524)												2	Substitution - Missense(2)	kidney(2)											92.0	86.0	88.0					12																	19436378		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1460G>C	12.37:g.19436378G>C	ENSP00000299275:p.Gly487Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.312643	0.00237	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.19	-0.289	0.12851	.	1.001330	0.08054	N	0.997056	T	0.06600	0.0169	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.19706	0.013;0.004;0.001;0.001;0.038;0.02;0.001	B;B;B;B;B;B;B	0.15484	0.012;0.005;0.002;0.002;0.013;0.008;0.004	T	0.29549	-1.0008	10	0.05351	T	0.99	-7.3721	18.7381	0.91764	0.0:0.5438:0.4562:0.0	.	487;379;379;493;493;487;487	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	A	487;487;487;494;487;493;487;245;487;379;379;379	ENSP00000325155:G487A;ENSP00000347560:G487A;ENSP00000352104:G487A;ENSP00000311239:G487A;ENSP00000404296:G493A;ENSP00000299275:G487A;ENSP00000440611:G245A;ENSP00000439673:G487A;ENSP00000400411:G379A;ENSP00000439837:G379A;ENSP00000440371:G379A	ENSP00000299275:G487A	G	+	2	0	PLEKHA5	19327645	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	-0.168000	0.09925	0.122000	0.18314	0.655000	0.94253	GGA		0.498	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012	
POGZ	23126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151400320	151400320	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:151400320C>T	ENST00000271715.2	-	7	1371	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	POGZ_ENST00000392723.1_Missense_Mutation_p.G300R|POGZ_ENST00000368863.2_Missense_Mutation_p.G258R|POGZ_ENST00000409503.1_Missense_Mutation_p.G344R|POGZ_ENST00000361398.3_Missense_Mutation_p.G300R|POGZ_ENST00000491586.1_Missense_Mutation_p.G300R|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Missense_Mutation_p.G291R	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	353					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G300R(1)|p.G353R(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTCAGGTCCGCTGGTTCTT	0.458																																																	2	Substitution - Missense(2)	kidney(2)											53.0	49.0	50.0					1																	151400320		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1057G>A	1.37:g.151400320C>T	ENSP00000271715:p.Gly353Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439512	0.43326	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	T;T;T;T;T;T;T	0.01059	5.92;5.95;5.92;5.91;5.94;5.93;5.39	4.96	4.96	0.65561	.	0.275064	0.30584	N	0.009315	T	0.00967	0.0032	N	0.08118	0	0.80722	D	1	P;P;D;D;D;D;P	0.89917	0.898;0.645;0.966;1.0;0.972;0.972;0.824	B;B;B;D;B;B;B	0.85130	0.132;0.04;0.421;0.997;0.33;0.258;0.084	T	0.75777	-0.3198	10	0.38643	T	0.18	-10.6268	9.2026	0.37268	0.0:0.9036:0.0:0.0964	.	291;344;258;353;300;300;353	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	R	300;353;300;258;344;291;300;353	ENSP00000376484:G300R;ENSP00000271715:G353R;ENSP00000354467:G300R;ENSP00000357856:G258R;ENSP00000386836:G344R;ENSP00000431259:G291R;ENSP00000418408:G300R	ENSP00000271715:G353R	G	-	1	0	POGZ	149666944	0.983000	0.35010	0.998000	0.56505	0.923000	0.55619	2.063000	0.41423	2.569000	0.86673	0.563000	0.77884	GGA		0.458	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2		NM_207171	
PRKRA	8575	hgsc.bcm.edu	37	2	179315735	179315736	+	Frame_Shift_Del	DEL	GC	GC	-	rs141354030|rs79769305	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:179315735_179315736delGC	ENST00000325748.4	-	1	222_223	c.22_23delGC	c.(22-24)gccfs	p.A8fs	PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000487082.1_5'Flank|DFNB59_ENST00000375129.4_5'Flank|DFNB59_ENST00000409117.3_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	8	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CGGGGCCTCGGCGCGGTGCCTG	0.757														1193	0.238219	0.1649	0.3545	5008	,	,		12129	0.123		0.339	False		,,,				2504	0.2699				Melanoma(200;68 3001 23825 48764)												0										658,2174		225,208,983						-1.9	0.8		dbSNP_134	7	2206,4138		751,704,1717	no	frameshift	PRKRA	NM_003690.4		976,912,2700	A1A1,A1R,RR		34.773,23.2345,31.2119				2864,6312				SO:0001589	frameshift_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.22_23delGC	2.37:g.179315737_179315738delGC	ENSP00000318176:p.Ala8fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Frame_Shift_Del	DEL	ENST00000325748.4	37	CCDS2279.1																																																																																				0.757	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2		NM_003690	
PRLR	5618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35084671	35084671	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:35084671A>G	ENST00000382002.5	-	5	700	c.274T>C	c.(274-276)Tac>Cac	p.Y92H	PRLR_ENST00000231423.3_Missense_Mutation_p.Y92H|PRLR_ENST00000348262.3_Missense_Mutation_p.Y92H|PRLR_ENST00000542609.1_Missense_Mutation_p.Y92H|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000397391.3_Missense_Mutation_p.Y21H|PRLR_ENST00000310101.5_Missense_Mutation_p.Y92H|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Y92H	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	92	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.Y92H(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATGGAGGTGTACTGCTTGCCA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											197.0	188.0	191.0					5																	35084671		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.274T>C	5.37:g.35084671A>G	ENSP00000371432:p.Tyr92His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	1.692	-0.503657	0.04261	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330	T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.78	2.0	0.26442	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.430719	0.30879	N	0.008686	T	0.23210	0.0561	N	0.01817	-0.705	0.80722	D	1	B;B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.001;0.001	B;B;B;B;B;B	0.15052	0.009;0.012;0.011;0.009;0.003;0.004	T	0.29336	-1.0015	10	0.02654	T	1	-4.3519	8.9346	0.35691	0.31:0.0:0.69:0.0	.	92;92;21;92;92;92	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	H	92;92;92;21;92;92;92;92;92;92	ENSP00000231423:Y92H;ENSP00000424841:Y92H;ENSP00000311613:Y92H;ENSP00000380546:Y21H;ENSP00000441813:Y92H;ENSP00000371432:Y92H;ENSP00000309008:Y92H;ENSP00000423493:Y92H;ENSP00000427060:Y92H;ENSP00000422385:Y92H	ENSP00000231423:Y92H	Y	-	1	0	PRLR	35120428	0.985000	0.35326	0.998000	0.56505	0.773000	0.43773	0.220000	0.17660	0.084000	0.17077	-0.242000	0.12053	TAC		0.453	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			
PRSS3	5646	hgsc.bcm.edu	37	9	33799094	33799094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:33799094delT	ENST00000361005.5	+	5	831	c.831delT	c.(829-831)tgtfs	p.C277fs	PRSS3_ENST00000429677.3_Frame_Shift_Del_p.C213fs|PRSS3_ENST00000342836.4_Frame_Shift_Del_p.C234fs|PRSS3_ENST00000379405.3_Frame_Shift_Del_p.C220fs|PRSS3_ENST00000495682.1_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCCATGGCTGTGCCTGGAAGA	0.557																																																	0													92.0	88.0	90.0					9																	33799094		2203	4300	6503	SO:0001589	frameshift_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.831delT	9.37:g.33799094delT	ENSP00000354280:p.Cys277fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Frame_Shift_Del	DEL	ENST00000361005.5	37	CCDS47958.1																																																																																				0.557	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1		NM_002771	
RPA4	29935	broad.mit.edu;hgsc.bcm.edu	37	X	96139817	96139817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:96139817A>T	ENST00000373040.3	+	1	911	c.508A>T	c.(508-510)Aaa>Taa	p.K170*	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	170					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.K170*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GATGCTGGATAAAGCCCGTCG	0.458								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Nonsense(1)	kidney(1)											142.0	112.0	122.0					X																	96139817		2203	4300	6503	SO:0001587	stop_gained	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.508A>T	X.37:g.96139817A>T	ENSP00000362131:p.Lys170*	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SY03	Nonsense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	A	37	6.023423	0.97211	.	.	ENSG00000204086	ENST00000373040	.	.	.	3.66	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5884	6.4038	0.21652	0.6468:0.3532:0.0:0.0	.	.	.	.	X	170	.	ENSP00000362131:K170X	K	+	1	0	RPA4	96026473	0.264000	0.24093	0.003000	0.11579	0.231000	0.25187	2.139000	0.42149	0.530000	0.28619	0.486000	0.48141	AAA		0.458	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1		NM_013347	
SCN9A	6335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167055543	167055543	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	G	T	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:167055543G>T	ENST00000409435.1	-	26	5605	c.5606C>A	c.(5605-5607)tCt>tAt	p.S1869Y	SCN9A_ENST00000303354.6_Missense_Mutation_p.S1870Y|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1858Y|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1870Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1869					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S1858F(1)|p.S1858Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATTTGCAGACATGAACCT	0.428																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											173.0	186.0	182.0					2																	167055543		2203	4300	6503	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5606C>A	2.37:g.167055543G>T	ENSP00000386330:p.Ser1869Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731318	0.69189	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96041	-3.86;-3.89;-3.89;-3.89	6.07	6.07	0.98685	.	0.098072	0.45126	D	0.000391	D	0.93058	0.7790	N	0.19112	0.55	0.45704	D	0.998611	P	0.50272	0.933	P	0.48089	0.566	D	0.93838	0.7134	10	0.87932	D	0	.	16.1789	0.81887	0.0:0.0:0.8662:0.1338	.	1858	E7EUN6	.	Y	1858;1870;1870;1869	ENSP00000386306:S1858Y;ENSP00000364536:S1870Y;ENSP00000304748:S1870Y;ENSP00000386330:S1869Y	ENSP00000304748:S1870Y	S	-	2	0	SCN9A	166763789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.885000	0.99019	0.655000	0.94253	TCT		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977	
SCO1	6341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10596183	10596183	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:10596183C>G	ENST00000255390.5	-	3	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.D154H	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	154					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)	p.D154H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CCCAAGTAGTCCTTGTCAGTT	0.448																																					Melanoma(128;591 1731 19711 31891 44645)												1	Substitution - Missense(1)	kidney(1)											115.0	97.0	103.0					17																	10596183		2203	4300	6503	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.460G>C	17.37:g.10596183C>G	ENSP00000255390:p.Asp154His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632151	0.87660	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.90385	-2.66	6.08	6.08	0.98989	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	H	0.95982	3.75	0.80722	D	1	P;P	0.51351	0.944;0.851	P;P	0.61275	0.708;0.886	D	0.97222	0.9878	10	0.72032	D	0.01	-31.5468	16.8679	0.86033	0.0:0.872:0.128:0.0	.	154;154	A8MY34;O75880	.;SCO1_HUMAN	H	154	ENSP00000255390:D154H	ENSP00000255390:D154H	D	-	1	0	SCO1	10536908	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.702000	0.68332	2.894000	0.99253	0.591000	0.81541	GAC		0.448	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2		NM_004589	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47143045	47143045	+	Splice_Site	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:47143045A>T	ENST00000409792.3	-	8	4960	c.4918T>A	c.(4918-4920)Tgg>Agg	p.W1640R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1640	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W1137R(1)|p.W1640R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCACAGTCCACTGAGATGAT	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											112.0	111.0	111.0					3																	47143045		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4918-1T>A	3.37:g.47143045A>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734184	0.89482	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80393	-1.37	5.85	5.85	0.93711	SET domain (3);	0.000000	0.50627	D	0.000110	D	0.91848	0.7420	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93512	0.6854	10	0.87932	D	0	.	16.2291	0.82321	1.0:0.0:0.0:0.0	.	1640;1640	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1640	ENSP00000386759:W1640R	ENSP00000386759:W1640R	W	-	1	0	SETD2	47118049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.238000	0.95380	2.238000	0.73509	0.528000	0.53228	TGG		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	Missense_Mutation
SLC16A11	162515	broad.mit.edu	37	17	6946682	6946682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:6946682delG	ENST00000308009.1	-	1	560	c.223delC	c.(223-225)cagfs	p.Q75fs	SLC16A11_ENST00000447225.1_Frame_Shift_Del_p.Q51fs	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	75					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GCAGTGTCCTGGGCGCTTCGG	0.701																																																	0													18.0	19.0	19.0					17																	6946682		2193	4281	6474	SO:0001589	frameshift_variant	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.223delC	17.37:g.6946682delG	ENSP00000310490:p.Gln75fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000308009.1	37	CCDS11086.1																																																																																				0.701	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1		NM_153357	
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35087006	35087006	+	Splice_Site	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr6:35087006A>T	ENST00000512012.1	-	8	1434	c.1278T>A	c.(1276-1278)atT>atA	p.I426I	TCP11_ENST00000444780.2_Splice_Site_p.I434I|TCP11_ENST00000412155.2_Splice_Site_p.I388I|TCP11_ENST00000373979.2_Splice_Site_p.I364I|TCP11_ENST00000418521.2_Splice_Site_p.I363I|TCP11_ENST00000311875.5_Splice_Site_p.I439I|TCP11_ENST00000244645.3_Splice_Site_p.I364I|TCP11_ENST00000373974.4_Splice_Site_p.I393I			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	426					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I439I(1)|p.I364I(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATACTCACCAATAACACTGC	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											313.0	267.0	283.0					6																	35087006		2203	4300	6503	SO:0001630	splice_region_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1279+1T>A	6.37:g.35087006A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	A	9.004	0.980766	0.18812	.	.	ENSG00000124678	ENST00000502480	.	.	.	4.91	2.51	0.30379	.	.	.	.	.	T	0.40862	0.1134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-13.1343	7.5135	0.27587	0.7429:0.0:0.2571:0.0	.	.	.	.	S	234	.	.	C	-	1	0	TCP11	35194984	0.991000	0.36638	1.000000	0.80357	0.402000	0.30811	0.159000	0.16442	0.327000	0.23409	0.383000	0.25322	TGC		0.453	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1		NM_001093728	Silent
TP53	7157	broad.mit.edu;ucsc.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	rs587778720		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:7578211C>T	ENST00000269305.4	-	6	827	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000420246.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACACTATGTCGAAAAGTGTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	GRCh37	CM004906|CM022474	TP53	M							132.0	118.0	122.0					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.638G>A	17.37:g.7578211C>T	ENSP00000269305:p.Arg213Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233765	0.97399	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	N	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.50039	D	0.999845	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.996;1.0;0.995;0.994;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213Q;ENSP00000352610:R213Q;ENSP00000269305:R213Q;ENSP00000398846:R213Q;ENSP00000391127:R213Q;ENSP00000391478:R213Q;ENSP00000425104:R81Q;ENSP00000423862:R120Q	ENSP00000269305:R213Q	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546	
TRHDE	29953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	73012774	73012774	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr12:73012774C>A	ENST00000261180.4	+	13	2386	c.2290C>A	c.(2290-2292)Cta>Ata	p.L764I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L764I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTTTATCCTCTAGATAAATT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											50.0	53.0	52.0					12																	73012774		2202	4300	6502	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2290C>A	12.37:g.73012774C>A	ENSP00000261180:p.Leu764Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349596	0.61183	.	.	ENSG00000072657	ENST00000261180	T	0.05447	3.44	5.77	4.87	0.63330	.	0.000000	0.64402	D	0.000001	T	0.06234	0.0161	N	0.24115	0.695	0.53688	D	0.999974	B	0.24882	0.113	B	0.32724	0.151	T	0.44967	-0.9293	10	0.14252	T	0.57	.	15.7537	0.78009	0.0:0.9315:0.0:0.0685	.	764	Q9UKU6	TRHDE_HUMAN	I	764	ENSP00000261180:L764I	ENSP00000261180:L764I	L	+	1	2	TRHDE	71299041	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.492000	0.53259	2.885000	0.99019	0.655000	0.94253	CTA		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381	
TRIM24	8805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138265317	138265317	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:138265317A>C	ENST00000343526.4	+	16	2811	c.2596A>C	c.(2596-2598)Att>Ctt	p.I866L	TRIM24_ENST00000415680.2_Missense_Mutation_p.I832L			O15164	TIF1A_HUMAN	tripartite motif containing 24	866					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I866L(1)|p.I832L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGAGAGTGGATTTGCACTTT	0.403																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												2	Substitution - Missense(2)	kidney(2)											223.0	205.0	211.0					7																	138265317		2203	4300	6503	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2596A>C	7.37:g.138265317A>C	ENSP00000340507:p.Ile866Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642124	0.47153	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	D;T	0.84223	-1.82;1.06	5.66	5.66	0.87406	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.148239	0.64402	D	0.000012	T	0.76090	0.3939	N	0.12663	0.25	0.45183	D	0.99819	B;B	0.15719	0.012;0.014	B;B	0.33254	0.16;0.099	T	0.69957	-0.5004	10	0.13108	T	0.6	-11.5083	15.5469	0.76108	1.0:0.0:0.0:0.0	.	866;832	O15164;O15164-2	TIF1A_HUMAN;.	L	866;777;832	ENSP00000340507:I866L;ENSP00000390829:I832L	ENSP00000340507:I866L	I	+	1	0	TRIM24	137915857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.661000	0.54503	2.143000	0.66587	0.533000	0.62120	ATT		0.403	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1		NM_015905	
TRIP12	9320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	230675664	230675665	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:230675664_230675665insT	ENST00000283943.5	-	14	2186_2187	c.2008_2009insA	c.(2008-2010)atgfs	p.M670fs	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.M373fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.M718fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	670					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCGAACCACCATTATAAACATC	0.381																																																	0																																										SO:0001589	frameshift_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2009dupA	2.37:g.230675666_230675666dupT	ENSP00000283943:p.Met670fs	Somatic		WXS	Illumina HiSeq	Phase_I	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	CCDS33391.1																																																																																				0.381	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238	
TTC24	164118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156552877	156552877	+	Silent	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:156552877C>T	ENST00000368237.3	+	3	954	c.954C>T	c.(952-954)agC>agT	p.S318S	TTC24_ENST00000478081.1_Intron|TTC24_ENST00000368236.3_Silent_p.S318S			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	318								p.S318S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTTTGGCAGCCTGGCCTTTG	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											34.0	39.0	37.0					1																	156552877		2015	4172	6187	SO:0001819	synonymous_variant	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.954C>T	1.37:g.156552877C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3H7	Silent	SNP	ENST00000368237.3	37	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298875	0.23650	.	.	ENSG00000187862	ENST00000340086;ENST00000413282	.	.	.	4.72	3.81	0.43845	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50988	-0.8762	4	.	.	.	-14.1546	11.4641	0.50227	0.0:0.9118:0.0:0.0882	.	.	.	.	V	91;83	.	.	A	+	2	0	TTC24	154819501	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.626000	0.37039	1.223000	0.43536	0.455000	0.32223	GCC		0.652	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1		XM_089384	
ULK3	25989	hgsc.bcm.edu	37	15	75134624	75134624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr15:75134624delA	ENST00000440863.2	-	2	331	c.240delT	c.(238-240)tttfs	p.F80fs	ULK3_ENST00000568667.1_Frame_Shift_Del_p.F91fs|ULK3_ENST00000569437.1_Frame_Shift_Del_p.F80fs	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						CTCACACCTGAAAGTCTTTCA	0.562																																																	0													100.0	102.0	101.0					15																	75134624		1988	4158	6146	SO:0001589	frameshift_variant	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.240delT	15.37:g.75134624delA	ENSP00000400312:p.Phe80fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Frame_Shift_Del	DEL	ENST00000440863.2	37	CCDS45305.1																																																																																				0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4		NM_015518	
UPK3B	80761	broad.mit.edu;hgsc.bcm.edu	37	7	76140064	76140064	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:76140064G>T	ENST00000257632.5	+	1	223	c.95G>T	c.(94-96)gGg>gTg	p.G32V	UPK3B_ENST00000448265.3_Missense_Mutation_p.G32V|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Missense_Mutation_p.G32V|UPK3B_ENST00000334348.3_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	32					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G32V(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGTGAGTGGGGGTCCTGGATG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											16.0	19.0	18.0					7																	76140064		2201	4297	6498	SO:0001583	missense	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.95G>T	7.37:g.76140064G>T	ENSP00000257632:p.Gly32Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778480	0.31502	.	.	ENSG00000243566	ENST00000419923;ENST00000448265;ENST00000257632	T;T;T	0.42513	0.97;0.97;0.97	4.36	0.199	0.15175	.	1.128010	0.07027	U	0.827866	T	0.21962	0.0529	N	0.08118	0	0.09310	N	0.999998	B	0.32031	0.352	B	0.32342	0.144	T	0.26087	-1.0113	10	0.87932	D	0	.	3.9566	0.09393	0.2883:0.0:0.5456:0.1661	.	32	Q9BT76	UPK3B_HUMAN	V	32	ENSP00000441602:G32V;ENSP00000441284:G32V;ENSP00000257632:G32V	ENSP00000257632:G32V	G	+	2	0	UPK3B	75978000	0.147000	0.22687	0.101000	0.21167	0.104000	0.19210	0.078000	0.14761	0.052000	0.16007	0.407000	0.27541	GGG		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2		NM_030570	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216219777	216219777	+	Silent	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:216219777G>T	ENST00000307340.3	-	32	6707	c.6321C>A	c.(6319-6321)gtC>gtA	p.V2107V	USH2A_ENST00000366943.2_Silent_p.V2107V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2107	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2107V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTACCTGTGACTATGTAGT	0.398										HNSCC(13;0.011)																																							2	Substitution - coding silent(2)	lung(1)|kidney(1)											100.0	85.0	90.0					1																	216219777		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6321C>A	1.37:g.216219777G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VHL	7428	hgsc.bcm.edu	37	3	10183776	10183776	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01W-1528-10	TCGA-B0-4710-11A-02W-1528-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0a4d83b9-b7a5-4ab4-b9ca-92627f361b07	d71c3e47-a16b-4744-94f8-301369d6774b	g.chr3:10183776G>C	ENST00000256474.2	+	1	1085	c.245G>C	c.(244-246)cGc>cCc	p.R82P	VHL_ENST00000345392.2_Missense_Mutation_p.R82P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	82			Missing (in VHLD).|R -> P (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R82P(4)|p.P81fs*49(2)|p.S72_V87>L(1)|p.R82fs*75(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83fs*48(1)|p.V74fs*77(1)|p.R82L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCAGTCCGCGCGTCGTGCTG	0.716		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Deletion - Frameshift(7)|Substitution - Missense(5)|Complex - deletion inframe(1)	kidney(12)|adrenal_gland(1)	GRCh37	CD941806|CM023994	VHL	D|M							12.0	15.0	14.0					3																	10183776		2160	4219	6379	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.245G>C	3.37:g.10183776G>C	ENSP00000256474:p.Arg82Pro	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402333	0.96030	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.101946	0.64402	D	0.000001	D	0.99799	0.9914	M	0.80183	2.485	0.43787	D	0.996324	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97000	0.9728	10	0.72032	D	0.01	-8.5138	16.8166	0.85735	0.0:0.0:1.0:0.0	.	82;82	P40337-2;P40337	.;VHL_HUMAN	P	82	ENSP00000256474:R82P;ENSP00000344757:R82P	ENSP00000256474:R82P	R	+	2	0	VHL	10158776	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.961000	0.70356	2.558000	0.86282	0.550000	0.68814	CGC		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR18	57418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	994289	994289	+	Silent	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:994289C>T	ENST00000251289.5	+	10	1268	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	WDR18_ENST00000587001.2_Silent_p.I392I	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	415					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I415I(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGCAAGATCAATCGGGACC	0.697																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	52.0	58.0					19																	994289		2200	4298	6498	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.1245C>T	19.37:g.994289C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.697	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			
YY1AP1	55249	broad.mit.edu	37	1	155642422	155642422	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:155642422A>G	ENST00000295566.4	-	7	733	c.710T>C	c.(709-711)aTg>aCg	p.M237T	YY1AP1_ENST00000361831.5_Missense_Mutation_p.M160T|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M309T|YY1AP1_ENST00000535662.1_Missense_Mutation_p.M37T|YY1AP1_ENST00000368340.5_Missense_Mutation_p.M309T|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M160T|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M171T|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M171T|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M309T|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M160T|YY1AP1_ENST00000438245.2_Missense_Mutation_p.M171T|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M160T|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M171T|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M171T|MSTO1_ENST00000452804.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	237					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M237T(1)|p.M309T(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AATCAGCTGCATAGCTCCCAT	0.473																																																	2	Substitution - Missense(2)	kidney(2)											72.0	70.0	70.0					1																	155642422		2202	4280	6482	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.710T>C	1.37:g.155642422A>G	ENSP00000295566:p.Met237Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000307	0.35320	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T;T	0.24151	1.96;1.97;1.95;1.97;1.96;1.91;1.92;1.97;1.95;1.94;1.94;1.87	3.44	3.44	0.39384	.	0.417341	0.27379	N	0.019639	T	0.13841	0.0335	L	0.54323	1.7	0.35852	D	0.826877	B;B;B;B;P;B;B;B	0.40660	0.218;0.336;0.11;0.152;0.726;0.11;0.332;0.43	B;B;B;B;B;B;B;B	0.39119	0.117;0.185;0.04;0.053;0.291;0.04;0.075;0.152	T	0.05053	-1.0909	10	0.72032	D	0.01	.	10.5675	0.45181	1.0:0.0:0.0:0.0	.	171;237;309;171;309;237;171;309	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	T	160;171;160;171;160;309;237;171;160;171;309;37;309;171;160;171	ENSP00000352134:M160T;ENSP00000347686:M171T;ENSP00000311138:M160T;ENSP00000316079:M171T;ENSP00000355298:M160T;ENSP00000357324:M309T;ENSP00000295566:M237T;ENSP00000357314:M171T;ENSP00000385791:M160T;ENSP00000385390:M171T;ENSP00000357323:M309T;ENSP00000437926:M37T	ENSP00000295566:M237T	M	-	2	0	YY1AP1	153909046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.892000	0.69790	1.549000	0.49425	0.460000	0.39030	ATG		0.473	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118	
ZBTB4	57659	broad.mit.edu	37	17	7369782	7369782	+	Silent	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:7369782A>G	ENST00000311403.4	-	3	678	c.339T>C	c.(337-339)ccT>ccC	p.P113P	ZBTB4_ENST00000380599.4_Silent_p.P113P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	113	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.P113P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGAGGCTGGAGGGGGagagg	0.582																																																	2	Substitution - coding silent(2)	kidney(2)											14.0	17.0	16.0					17																	7369782		2196	4289	6485	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.339T>C	17.37:g.7369782A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	CCDS11107.1																																																																																				0.582	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2		NM_020899	
ZMYM3	9203	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70467240	70467240	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:70467240G>T	ENST00000353904.2	-	13	2456	c.2269C>A	c.(2269-2271)Caa>Aaa	p.Q757K	ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q759K|ZMYM3_ENST00000373998.1_Missense_Mutation_p.Q757K|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q757K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q759K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	757					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q757K(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGTTGGGTTGGTTCTGCTGG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											57.0	45.0	49.0					X																	70467240		2202	4300	6502	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2269C>A	X.37:g.70467240G>T	ENSP00000343909:p.Gln757Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586623	0.46110	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43294	1.54;0.95;1.54;1.54;1.54	5.16	5.16	0.70880	.	0.082793	0.51477	N	0.000083	T	0.44498	0.1296	L	0.44542	1.39	0.46849	D	0.999225	P;P	0.37573	0.56;0.6	P;B	0.47015	0.534;0.333	T	0.16217	-1.0410	10	0.07813	T	0.8	-7.5565	17.8553	0.88761	0.0:0.0:1.0:0.0	.	757;757	Q14202-2;Q14202	.;ZMYM3_HUMAN	K	757;757;757;759;759	ENSP00000322845:Q757K;ENSP00000363110:Q757K;ENSP00000343909:Q757K;ENSP00000363096:Q759K;ENSP00000363100:Q759K	ENSP00000322845:Q757K	Q	-	1	0	ZMYM3	70383965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.335000	0.65929	2.405000	0.81733	0.529000	0.55759	CAA		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599	
ZNF221	7638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44470618	44470618	+	Silent	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:44470618A>C	ENST00000251269.5	+	6	1292	c.964A>C	c.(964-966)Aga>Cga	p.R322R	ZNF221_ENST00000587682.1_Silent_p.R322R|ZNF221_ENST00000592350.1_Silent_p.R322R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R322R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTCCGTGTTAGATCAAGACT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											168.0	166.0	166.0					19																	44470618		2203	4300	6503	SO:0001819	synonymous_variant	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.964A>C	19.37:g.44470618A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	CCDS12633.1																																																																																				0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			
ZNF22	7570	broad.mit.edu;ucsc.edu	37	10	45499247	45499247	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:45499247G>T	ENST00000298299.3	+	2	1024	c.431G>T	c.(430-432)tGt>tTt	p.C144F	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	144					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C144F(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TGTGATGAGTGTGGCCGGTGT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											94.0	98.0	96.0					10																	45499247		2203	4300	6503	SO:0001583	missense	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.431G>T	10.37:g.45499247G>T	ENSP00000298299:p.Cys144Phe	Somatic		WXS	Illumina GAIIx	Phase_I	Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422559	0.83559	.	.	ENSG00000165512	ENST00000298299	D	0.85861	-2.04	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000054	D	0.95124	0.8420	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96309	0.9227	10	0.87932	D	0	-26.0164	16.6834	0.85298	0.0:0.0:1.0:0.0	.	144	P17026	ZNF22_HUMAN	F	144	ENSP00000298299:C144F	ENSP00000298299:C144F	C	+	2	0	ZNF22	44819253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.579000	0.98204	2.790000	0.95986	0.655000	0.94253	TGT		0.458	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1		NM_006963	
ZNF607	84775	hgsc.bcm.edu;ucsc.edu	37	19	38189521	38189521	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:38189521delG	ENST00000355202.4	-	5	2106	c.1511delC	c.(1510-1512)cctfs	p.P504fs	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Frame_Shift_Del_p.P503fs	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTCATAAGGTTTCTCACC	0.403																																																	0													99.0	95.0	96.0					19																	38189521		2203	4300	6503	SO:0001589	frameshift_variant	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1511delC	19.37:g.38189521delG	ENSP00000347338:p.Pro504fs	Somatic		WXS	Illumina HiSeq	Phase_I	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Frame_Shift_Del	DEL	ENST00000355202.4	37	CCDS33006.1																																																																																				0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689	
ZYG11B	79699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53245564	53245564	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:53245564C>A	ENST00000294353.6	+	4	1136	c.991C>A	c.(991-993)Ctg>Atg	p.L331M	ZYG11B_ENST00000545132.1_Missense_Mutation_p.L331M|ZYG11B_ENST00000443756.2_Missense_Mutation_p.L331M	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	331								p.L331M(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGCAGAAGCACTGAAGCGTTA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											170.0	160.0	163.0					1																	53245564		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.991C>A	1.37:g.53245564C>A	ENSP00000294353:p.Leu331Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544916	0.65198	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.09350	2.99;2.99;2.99	5.58	0.807	0.18714	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	M	0.83603	2.65	0.42095	D	0.991313	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.09530	-1.0670	10	0.59425	D	0.04	.	13.1471	0.59467	0.0:0.737:0.0:0.263	.	331;331	B4DK95;Q9C0D3	.;ZY11B_HUMAN	M	331	ENSP00000400522:L331M;ENSP00000441315:L331M;ENSP00000294353:L331M	ENSP00000294353:L331M	L	+	1	2	ZYG11B	53018152	0.001000	0.12720	0.972000	0.41901	0.981000	0.71138	-0.119000	0.10676	-0.096000	0.12329	-0.312000	0.09012	CTG		0.378	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1		NM_024646	
