#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
AARS	16	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70296355	70296355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr16:70296355delC	ENST00000261772.8	-	12	1708	c.1565delG	c.(1564-1566)ggcfs	p.G522fs	RN7SL407P_ENST00000583724.1_RNA|AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACACTCCTGGCCTGTGGACAC	0.532																																																	0													197.0	149.0	165.0					16																	70296355		2198	4300	6498	SO:0001589	frameshift_variant	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1565delG	16.37:g.70296355delC	ENSP00000261772:p.Gly522fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000261772.8	37	CCDS32474.1																																																																																				0.532	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2		NM_001605	
AATK	9625	broad.mit.edu;hgsc.bcm.edu	37	17	79094705	79094705	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr17:79094705G>T	ENST00000326724.4	-	11	3055	c.3031C>A	c.(3031-3033)Cca>Aca	p.P1011T	AATK_ENST00000417379.1_Missense_Mutation_p.P908T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1011					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P1011T(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTTCTCTGGGCCTGAGGTG	0.662																																																	2	Substitution - Missense(2)	kidney(2)											14.0	16.0	15.0					17																	79094705		1877	4091	5968	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3031C>A	17.37:g.79094705G>T	ENSP00000324196:p.Pro1011Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919274	0.33908	.	.	ENSG00000181409	ENST00000326724	T	0.11495	2.77	4.93	-0.282	0.12878	.	12.534100	0.00166	N	0.000001	T	0.12178	0.0296	L	0.57536	1.79	0.09310	N	1	B	0.18863	0.031	B	0.14023	0.01	T	0.40021	-0.9585	10	0.72032	D	0.01	.	1.5774	0.02627	0.1952:0.136:0.4561:0.2128	.	1011	Q6ZMQ8	LMTK1_HUMAN	T	1011	ENSP00000324196:P1011T	ENSP00000324196:P1011T	P	-	1	0	AATK	76709300	0.000000	0.05858	0.008000	0.14137	0.024000	0.10985	-0.439000	0.06897	0.460000	0.27045	0.462000	0.41574	CCA		0.662	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1		NM_004920	
AHNAK	79026	hgsc.bcm.edu	37	11	62303555	62303556	+	In_Frame_Ins	INS	-	-	CTC	rs113658672|rs145590149|rs377504333	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:62303555_62303556insCTC	ENST00000378024.4	-	3	289_290	c.15_16insGAG	c.(13-18)gagaca>gagGAGaca	p.5_6insE	AHNAK_ENST00000257247.7_In_Frame_Ins_p.5_6insE|AHNAK_ENST00000530124.1_In_Frame_Ins_p.5_6insE|RP11-864I4.3_ENST00000544108.1_RNA	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCCGGGTTGTCTCCTCCTTCT	0.614														430	0.0858626	0.2587	0.0375	5008	,	,		16210	0.0119		0.0258	False		,,,				2504	0.0245																0									,	935,3329		99,737,1296					,	1.4	0.9		dbSNP_132	49	220,8034		4,212,3911	no	coding,coding	AHNAK	NM_024060.2,NM_001620.1	,	103,949,5207	A1A1,A1R,RR		2.6654,21.9278,9.2267	,	,		1155,11363				SO:0001652	inframe_insertion	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13_15dupGAG	11.37:g.62303559_62303561dupCTC	ENSP00000367263:p.Glu5_Glu5dup	Somatic		WXS	Illumina HiSeq	Phase_I	A1A586	In_Frame_Ins	INS	ENST00000378024.4	37	CCDS31584.1																																																																																				0.614	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060	
ANKRD7	56311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117874795	117874795	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:117874795T>C	ENST00000265224.4	+	3	490	c.335T>C	c.(334-336)cTa>cCa	p.L112P	ANKRD7_ENST00000417525.1_Missense_Mutation_p.L59P|ANKRD7_ENST00000357099.4_Missense_Mutation_p.L132P|ANKRD7_ENST00000433239.1_Missense_Mutation_p.L59P|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	112					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.L132P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ACTATTCTTCTAAACTTTGGT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											229.0	212.0	217.0					7																	117874795		1877	4107	5984	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.335T>C	7.37:g.117874795T>C	ENSP00000265224:p.Leu112Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669942	0.67814	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.38837	N	0.001546	D	0.91392	0.7284	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94522	0.7728	10	0.87932	D	0	-11.1029	14.4919	0.67657	0.0:0.0:0.0:1.0	.	112	Q92527	ANKR7_HUMAN	P	132;112;59;59	ENSP00000349612:L132P;ENSP00000265224:L112P;ENSP00000395595:L59P;ENSP00000388473:L59P	ENSP00000265224:L112P	L	+	2	0	ANKRD7	117662031	1.000000	0.71417	0.053000	0.19242	0.023000	0.10783	4.587000	0.60991	1.975000	0.57531	0.533000	0.62120	CTA		0.353	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1		NM_001077708	
APOL5	80831	broad.mit.edu;hgsc.bcm.edu	37	22	36123112	36123112	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr22:36123112G>T	ENST00000249044.2	+	3	997	c.997G>T	c.(997-999)Gct>Tct	p.A333S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	333					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.A333S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAGAGCACTTGCTAAGAAGCT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											31.0	32.0	32.0					22																	36123112		2203	4300	6503	SO:0001583	missense	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.997G>T	22.37:g.36123112G>T	ENSP00000249044:p.Ala333Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727403	0.48833	.	.	ENSG00000128313	ENST00000249044	T	0.12569	2.67	3.92	2.74	0.32292	.	0.199248	0.28742	U	0.014281	T	0.30355	0.0762	M	0.76002	2.32	0.09310	N	1	D	0.65815	0.995	D	0.69307	0.963	T	0.06197	-1.0840	10	0.66056	D	0.02	.	6.0704	0.19885	0.1849:0.0:0.8151:0.0	.	333	Q9BWW9	APOL5_HUMAN	S	333	ENSP00000249044:A333S	ENSP00000249044:A333S	A	+	1	0	APOL5	34453058	0.169000	0.23002	0.001000	0.08648	0.015000	0.08874	2.245000	0.43133	0.452000	0.26830	0.655000	0.94253	GCT		0.607	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1		NM_030642	
ATIC	471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216211658	216211658	+	Silent	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:216211658T>C	ENST00000236959.9	+	14	1823	c.1497T>C	c.(1495-1497)atT>atC	p.I499I	ATIC_ENST00000540518.1_Silent_p.I440I|ATIC_ENST00000435675.1_Silent_p.I498I	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	499					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.I499I(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTGGAACCATTGGCGAGGTGA	0.418			T	ALK	ALCL																																			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - coding silent(1)	kidney(1)											127.0	122.0	123.0					2																	216211658		2203	4300	6503	SO:0001819	synonymous_variant	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1497T>C	2.37:g.216211658T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	8.879	0.951268	0.18431	.	.	ENSG00000138363	ENST00000446622;ENST00000426233	.	.	.	5.86	-11.7	0.00046	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72507	-0.4272	4	.	.	.	-26.4016	15.0672	0.72005	0.0:0.2163:0.069:0.7148	.	.	.	.	R	193;168	.	.	W	+	1	0	ATIC	215919903	0.025000	0.19082	0.085000	0.20634	0.949000	0.60115	-0.849000	0.04322	-2.535000	0.00489	-0.973000	0.02599	TGG		0.418	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1		NM_004044	
CA11	770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49147826	49147826	+	Splice_Site	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:49147826C>G	ENST00000084798.4	-	3	822	c.143G>C	c.(142-144)gGg>gCg	p.G48A	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	48						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.G48A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAAAGGAGGCCCTGGGGGTGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											21.0	19.0	19.0					19																	49147826		2203	4300	6503	SO:0001630	splice_region_variant	770			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.143-1G>C	19.37:g.49147826C>G		Somatic		WXS	Illumina HiSeq	Phase_I	O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945927	0.53079	.	.	ENSG00000063180	ENST00000084798	T	0.77358	-1.09	4.8	4.8	0.61643	Carbonic anhydrase, alpha-class, catalytic domain (3);	0.086147	0.47093	D	0.000259	D	0.83723	0.5316	M	0.69358	2.11	0.41471	D	0.988106	D	0.62365	0.991	P	0.62435	0.902	D	0.84334	0.0523	10	0.51188	T	0.08	.	10.9227	0.47174	0.1875:0.8125:0.0:0.0	.	48	O75493	CAH11_HUMAN	A	48	ENSP00000084798:G48A	ENSP00000084798:G48A	G	-	2	0	CA11	53839638	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.519000	0.45546	2.395000	0.81488	0.313000	0.20887	GGG		0.597	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1		NM_001217	Missense_Mutation
CACYBP	27101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	174973753	174973753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:174973753C>T	ENST00000367679.2	+	2	467	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CACYBP_ENST00000406752.1_Nonsense_Mutation_p.Q7*|CACYBP_ENST00000405362.1_5'UTR|CACYBP_ENST00000367681.2_5'UTR	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	7	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Q7*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AACACAGCTACAGAAAGATCT	0.358																																																	1	Substitution - Nonsense(1)	kidney(1)											53.0	50.0	51.0					1																	174973753		2203	4300	6503	SO:0001587	stop_gained	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.19C>T	1.37:g.174973753C>T	ENSP00000356652:p.Gln7*	Somatic		WXS	Illumina HiSeq	Phase_I	B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Nonsense_Mutation	SNP	ENST00000367679.2	37	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023752	0.75390	.	.	ENSG00000116161	ENST00000426793;ENST00000367679;ENST00000406752	.	.	.	6.17	6.17	0.99709	.	0.102610	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.122	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000356652:Q7X	Q	+	1	0	CACYBP	173240376	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.331000	0.52075	2.941000	0.99782	0.655000	0.94253	CAG		0.358	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3		NM_014412	
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32636393	32636393	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:32636393A>T	ENST00000335185.5	-	16	1514	c.1471T>A	c.(1471-1473)Tcc>Acc	p.S491T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	491								p.S491T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTATCTAAGGAGAGGGTTTTG	0.328																																																	1	Substitution - Missense(1)	kidney(1)											98.0	94.0	95.0					11																	32636393		1826	4069	5895	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1471T>A	11.37:g.32636393A>T	ENSP00000335325:p.Ser491Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	5.327	0.245640	0.10077	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.33	1.15	0.20763	.	0.411457	0.23252	N	0.050226	T	0.25644	0.0624	L	0.34521	1.04	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.20874	-1.0262	9	0.13470	T	0.59	.	7.3795	0.26847	0.6264:0.118:0.0:0.2557	.	491	Q6ZRK6	CCD73_HUMAN	T	491	.	ENSP00000335325:S491T	S	-	1	0	CCDC73	32592969	0.003000	0.15002	0.000000	0.03702	0.080000	0.17528	0.782000	0.26788	0.324000	0.23333	0.482000	0.46254	TCC		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391	
CLIC6	54102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	36081036	36081036	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr21:36081036C>G	ENST00000360731.3	+	5	1703	c.1703C>G	c.(1702-1704)tCc>tGc	p.S568C	CLIC6_ENST00000349499.2_Missense_Mutation_p.S550C			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	568	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S550C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GAATCTAATTCCGCAGGAAAT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											75.0	64.0	67.0					21																	36081036		2203	4300	6503	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1703C>G	21.37:g.36081036C>G	ENSP00000353959:p.Ser568Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	C	14.56	2.570708	0.45798	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.93712	-3.27;-3.27	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.057415	0.64402	D	0.000001	D	0.95736	0.8613	L	0.56340	1.77	0.47584	D	0.999462	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.96123	0.9086	10	0.87932	D	0	2.0192	18.3353	0.90286	0.0:1.0:0.0:0.0	.	568;550	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	C	568;550	ENSP00000353959:S568C;ENSP00000290332:S550C	ENSP00000290332:S550C	S	+	2	0	CLIC6	35002906	0.998000	0.40836	0.930000	0.37139	0.001000	0.01503	3.887000	0.56197	2.634000	0.89283	0.655000	0.94253	TCC		0.403	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			
CLN8	2055	broad.mit.edu;ucsc.edu	37	8	1728492	1728492	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr8:1728492T>A	ENST00000331222.4	+	3	867	c.620T>A	c.(619-621)cTa>cAa	p.L207Q	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	207	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L207Q(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CGCATGGTTCTAACCTACCAC	0.537																																					Pancreas(155;338 1942 6138 10888 50612)												2	Substitution - Missense(2)	kidney(2)											234.0	148.0	177.0					8																	1728492		2203	4300	6503	SO:0001583	missense	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.620T>A	8.37:g.1728492T>A	ENSP00000328182:p.Leu207Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469124	0.84533	.	.	ENSG00000182372	ENST00000331222	D	0.87571	-2.27	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.179999	0.28790	U	0.014125	D	0.92831	0.7720	M	0.73962	2.25	0.52501	D	0.999956	D	0.89917	1.0	D	0.85130	0.997	D	0.93118	0.6522	10	0.52906	T	0.07	-13.3651	15.008	0.71527	0.0:0.0:0.0:1.0	.	207	Q9UBY8	CLN8_HUMAN	Q	207	ENSP00000328182:L207Q	ENSP00000328182:L207Q	L	+	2	0	CLN8	1715899	1.000000	0.71417	0.064000	0.19789	0.919000	0.55068	7.382000	0.79729	1.943000	0.56356	0.528000	0.53228	CTA		0.537	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2		NM_018941	
EMR1	2015	hgsc.bcm.edu;ucsc.edu	37	19	6903923	6903923	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:6903923G>C	ENST00000312053.4	+	7	801	c.764G>C	c.(763-765)gGa>gCa	p.G255A	EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.G255A|EMR1_ENST00000381404.4_Missense_Mutation_p.G203A|EMR1_ENST00000381407.5_Missense_Mutation_p.G114A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	255	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCAAGCAATGGACAGTTGAAT	0.458																																																	0													97.0	96.0	97.0					19																	6903923		2203	4300	6503	SO:0001583	missense	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.764G>C	19.37:g.6903923G>C	ENSP00000311545:p.Gly255Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080584	0.55753	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	T;D;T;D	0.87650	1.29;-2.28;-1.35;-2.28	3.35	3.35	0.38373	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90820	0.7117	L	0.60904	1.88	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.994;1.0	D;D;D;D	0.91635	0.982;0.999;0.94;0.996	D	0.90746	0.4653	9	0.62326	D	0.03	.	10.9392	0.47264	0.0:0.0:1.0:0.0	.	114;255;203;255	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	A	255;255;203;255;114	ENSP00000311545:G255A;ENSP00000370811:G203A;ENSP00000250572:G255A;ENSP00000370814:G114A	ENSP00000250572:G255A	G	+	2	0	EMR1	6854923	0.363000	0.24989	0.048000	0.18961	0.197000	0.23852	4.563000	0.60823	1.811000	0.52892	0.655000	0.94253	GGA		0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			
EPS8	2059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15803757	15803757	+	Splice_Site	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:15803757C>G	ENST00000281172.5	-	14	1870	c.1434G>C	c.(1432-1434)gaG>gaC	p.E478D	EPS8_ENST00000543612.1_Splice_Site_p.E478D|EPS8_ENST00000543523.1_Splice_Site_p.E478D|EPS8_ENST00000542903.1_Splice_Site_p.E218D|EPS8_ENST00000540613.1_Splice_Site_p.E218D	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	478					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.E478D(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AAAAAACTACCTCTGTGGATA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											70.0	68.0	69.0					12																	15803757		2203	4300	6503	SO:0001630	splice_region_variant	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1434+1G>C	12.37:g.15803757C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	9.795	1.179097	0.21787	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07908	3.29;3.29;3.29;3.15;3.15	4.86	4.86	0.63082	.	0.421904	0.25848	N	0.027915	T	0.10937	0.0267	L	0.51422	1.61	0.48185	D	0.999605	B	0.19331	0.035	B	0.17098	0.017	T	0.11690	-1.0577	9	.	.	.	-20.3408	17.9899	0.89165	0.0:1.0:0.0:0.0	.	478	Q12929	EPS8_HUMAN	D	478;478;478;218;218;478	ENSP00000441867:E478D;ENSP00000281172:E478D;ENSP00000442388:E478D;ENSP00000441888:E218D;ENSP00000437806:E218D	.	E	-	3	2	EPS8	15695024	1.000000	0.71417	0.988000	0.46212	0.124000	0.20399	5.672000	0.68102	2.215000	0.71742	0.650000	0.86243	GAG		0.353	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			Missense_Mutation
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127673799	127673799	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr5:127673799T>A	ENST00000508053.1	-	33	4462	c.3488A>T	c.(3487-3489)gAa>gTa	p.E1163V	FBN2_ENST00000507835.1_Missense_Mutation_p.E13V|FBN2_ENST00000508989.1_Missense_Mutation_p.E1130V|FBN2_ENST00000262464.4_Missense_Mutation_p.E1163V			P35556	FBN2_HUMAN	fibrillin 2	1163	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1163V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGGTTACGTTCACATTCGTC	0.473																																																	2	Substitution - Missense(2)	kidney(2)											74.0	67.0	70.0					5																	127673799		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3488A>T	5.37:g.127673799T>A	ENSP00000424571:p.Glu1163Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312359	0.81358	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.89	4.89	0.63831	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.91314	0.7261	N	0.12663	0.25	0.80722	D	1	B;D	0.76494	0.387;0.999	B;D	0.85130	0.194;0.997	D	0.91470	0.5196	10	0.36615	T	0.2	.	14.9721	0.71243	0.0:0.0:0.0:1.0	.	1130;1163	D6RJI3;P35556	.;FBN2_HUMAN	V	1163;1163;13;1130	ENSP00000262464:E1163V;ENSP00000424571:E1163V;ENSP00000426839:E13V;ENSP00000425596:E1130V	ENSP00000262464:E1163V	E	-	2	0	FBN2	127701698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.057000	0.71119	2.191000	0.70037	0.528000	0.53228	GAA		0.473	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	
FOXK1	221937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4780487	4780487	+	Silent	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:4780487C>T	ENST00000328914.4	+	2	579	c.579C>T	c.(577-579)ccC>ccT	p.P193P	FOXK1_ENST00000446823.1_Silent_p.P30P	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P193P(1)|p.P19P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCGGTTTCCCAGCACGGCCA	0.602																																																	2	Substitution - coding silent(2)	kidney(2)											222.0	224.0	223.0					7																	4780487		2203	4300	6503	SO:0001819	synonymous_variant	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.579C>T	7.37:g.4780487C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.602	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			
FGL2	10875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76829078	76829078	+	Silent	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:76829078T>C	ENST00000248598.5	-	1	65	c.33A>G	c.(31-33)tcA>tcG	p.S11S	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	11						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.S11S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAAGAACAGCTGAGCTCAGCC	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	70.0	70.0					7																	76829078		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.33A>G	7.37:g.76829078T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.498	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1		NM_006682	
GFI1B	8328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135863634	135863634	+	Missense_Mutation	SNP	G	G	T	rs145562579	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:135863634G>T	ENST00000339463.3	+	8	1108	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	GFI1B_ENST00000372124.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372123.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000450530.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372122.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000534944.1_Missense_Mutation_p.D97Y			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	97	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D97Y(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											109.0	94.0	99.0					9																	135863634		2203	4300	6503	SO:0001583	missense	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.289G>T	9.37:g.135863634G>T	ENSP00000344782:p.Asp97Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526992	0.44969	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09255	3.14;3.0;3.0;3.14;3.14;3.0	4.6	3.69	0.42338	.	0.710545	0.13222	N	0.404314	T	0.08626	0.0214	L	0.36672	1.1	0.23150	N	0.998214	P;B	0.34864	0.473;0.086	B;B	0.31101	0.124;0.038	T	0.19095	-1.0316	10	0.59425	D	0.04	-26.2484	7.6508	0.28348	0.1146:0.0:0.8854:0.0	.	97;97	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	Y	97	ENSP00000361197:D97Y;ENSP00000344782:D97Y;ENSP00000409546:D97Y;ENSP00000446134:D97Y;ENSP00000361196:D97Y;ENSP00000361195:D97Y	ENSP00000344782:D97Y	D	+	1	0	GFI1B	134853455	0.967000	0.33354	0.884000	0.34674	0.953000	0.61014	2.544000	0.45761	2.075000	0.62263	0.563000	0.77884	GAC		0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1		NM_004188	
GBGT1	26301	broad.mit.edu;hgsc.bcm.edu	37	9	136029453	136029453	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:136029453C>A	ENST00000372040.3	-	7	866	c.555G>T	c.(553-555)gaG>gaT	p.E185D	GBGT1_ENST00000372043.3_Missense_Mutation_p.R179I|GBGT1_ENST00000540636.1_Missense_Mutation_p.E168D|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	185					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)	p.E185D(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGCTGATGGTCTCCATCCGGC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											78.0	60.0	66.0					9																	136029453		2203	4299	6502	SO:0001583	missense	26301			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.555G>T	9.37:g.136029453C>A	ENSP00000361110:p.Glu185Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.209850|4.209850	0.79240|0.79240	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01388|0.24723	4.95;4.95|1.84	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.116735|.	0.56097|.	D|.	0.000025|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88775|0.88775	2.98|2.98	0.48087|0.48087	D|D	0.999584|0.999584	B;B|.	0.28419|.	0.211;0.211|.	B;B|.	0.24974|.	0.057;0.057|.	T|T	0.67082|0.67082	-0.5760|-0.5760	10|7	0.87932|0.87932	D|D	0|0	-7.3915|-7.3915	18.1031|18.1031	0.89512|0.89512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	168;185|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	D|I	185;168|179	ENSP00000361110:E185D;ENSP00000437663:E168D|ENSP00000361113:R179I	ENSP00000361110:E185D|ENSP00000361113:R179I	E|R	-|-	3|2	2|0	GBGT1|GBGT1	135019274|135019274	0.905000|0.905000	0.30787|0.30787	1.000000|1.000000	0.80357|0.80357	0.573000|0.573000	0.36030|0.36030	1.872000|1.872000	0.39549|0.39549	2.513000|2.513000	0.84729|0.84729	0.491000|0.491000	0.48974|0.48974	GAG|AGA		0.632	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1		NM_021996	
GNPTAB	79158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	102163955	102163955	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:102163955A>T	ENST00000299314.7	-	10	1390	c.1128T>A	c.(1126-1128)aaT>aaA	p.N376K	GNPTAB_ENST00000549940.1_Missense_Mutation_p.N376K	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	376					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.N376K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTGGCTCAAATTTCGAAAAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											140.0	140.0	140.0					12																	102163955		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1128T>A	12.37:g.102163955A>T	ENSP00000299314:p.Asn376Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290236	0.59976	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92199	-2.99;-2.99	5.88	0.713	0.18173	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.70903	2.155	0.80722	D	1	P;P	0.46987	0.741;0.888	P;P	0.56788	0.774;0.806	D	0.92515	0.6020	10	0.87932	D	0	-31.1897	11.6084	0.51045	0.5598:0.0:0.4402:0.0	.	376;376	Q3T906-2;Q3T906	.;GNPTA_HUMAN	K	376	ENSP00000299314:N376K;ENSP00000449150:N376K	ENSP00000299314:N376K	N	-	3	2	GNPTAB	100688086	0.462000	0.25791	0.802000	0.32245	0.844000	0.47949	0.897000	0.28390	0.125000	0.18397	0.482000	0.46254	AAT		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			
GOLGA6L10	647042	broad.mit.edu	37	15	82635117	82635117	+	IGR	SNP	T	T	C	rs201663151	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:82635117T>C	ENST00000439287.4	-	0	1540					NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10											endometrium(1)|kidney(4)	5						TTTTTCAATTTCTTGACCCGC	0.403																																																	0																																										SO:0001628	intergenic_variant	647042				CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580		15.37:g.82635117T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000439287.4	37	CCDS45325.1																																																																																				0.403	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419403.2		NM_001164465	
HERC2	8924	broad.mit.edu;hgsc.bcm.edu	37	15	28387457	28387457	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:28387457C>A	ENST00000261609.7	-	76	11735	c.11627G>T	c.(11626-11628)aGg>aTg	p.R3876M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R3876M(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCAGTACCTCCGGAACCA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											57.0	52.0	54.0					15																	28387457		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11627G>T	15.37:g.28387457C>A	ENSP00000261609:p.Arg3876Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149486	0.94645	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63906	-0.6531	10	0.72032	D	0.01	.	20.0114	0.97452	0.0:1.0:0.0:0.0	.	3876	O95714	HERC2_HUMAN	M	3876	ENSP00000261609:R3876M	ENSP00000261609:R3876M	R	-	2	0	HERC2	26061052	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	5.771000	0.68881	2.731000	0.93534	0.650000	0.86243	AGG		0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	
GOLGA6L17P	642402	broad.mit.edu	37	15	85053188	85053188	+	RNA	SNP	C	C	G	rs201559925	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:85053188C>G	ENST00000414190.2	-	0	264					NR_003246.2																						CCCTGTTCTCCGCAGCCCGAA	0.488																																																	0																																												374650																															15.37:g.85053188C>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000414190.2	37																																																																																					0.488	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			
RP3-470B24.5	0	hgsc.bcm.edu	37	6	168377071	168377071	+	lincRNA	SNP	G	G	A	rs201618689		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr6:168377071G>A	ENST00000538528.1	-	0	548																											AAGACAGTGGGGGTCATTCCC	0.642																																																	0													3.0	4.0	4.0					6																	168377071		539	1376	1915			100128124																															6.37:g.168377071G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.642	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
HNRNPA3P1	10151	broad.mit.edu	37	10	44285141	44285141	+	IGR	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:44285141C>T								RP11-272J7.4 (10868 upstream) : LINC00619 (55612 downstream)																							acctccaccacctccaAAGTT	0.527																																																	0																																										SO:0001628	intergenic_variant	10151																															10.37:g.44285141C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.527									
HSD3B1	3283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120050234	120050234	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:120050234G>C	ENST00000369413.3	+	2	280	c.135G>C	c.(133-135)gaG>gaC	p.E45D	HSD3B1_ENST00000528909.1_Missense_Mutation_p.E45D|HSD3B1_ENST00000235547.6_Missense_Mutation_p.E47D			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	45					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.E45D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	AATTGAGAGAGGAATTTTCTA	0.483																																																	1	Substitution - Missense(1)	kidney(1)											176.0	150.0	159.0					1																	120050234		2203	4300	6503	SO:0001583	missense	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.135G>C	1.37:g.120050234G>C	ENSP00000358421:p.Glu45Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	8.787	0.929621	0.18131	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	2.91	-0.18	0.13295	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.772033	0.11991	N	0.509787	T	0.70456	0.3226	N	0.17764	0.52	0.09310	N	1	B;P	0.52316	0.025;0.952	B;P	0.60117	0.034;0.869	T	0.62905	-0.6755	10	0.38643	T	0.18	-3.3268	5.3307	0.15930	0.4352:0.0:0.5648:0.0	.	47;45	Q5TDG2;P14060	.;3BHS1_HUMAN	D	45;45;47;45	ENSP00000435999:E45D;ENSP00000358421:E45D;ENSP00000235547:E47D;ENSP00000432268:E45D	ENSP00000235547:E47D	E	+	3	2	HSD3B1	119851757	0.063000	0.20901	0.039000	0.18376	0.131000	0.20780	0.243000	0.18106	-0.296000	0.08947	0.313000	0.20887	GAG		0.483	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3		NM_000862	
HVCN1	84329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	111089162	111089162	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:111089162T>C	ENST00000356742.5	-	5	1256	c.503A>G	c.(502-504)cAc>cGc	p.H168R	HVCN1_ENST00000439744.2_Missense_Mutation_p.H148R|HVCN1_ENST00000242607.8_Missense_Mutation_p.H168R|HVCN1_ENST00000548312.1_Missense_Mutation_p.H168R			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	168					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.H168R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CTCAAACTTGTGGTGAAAGAA	0.483																																																	1	Substitution - Missense(1)	kidney(1)											116.0	113.0	114.0					12																	111089162		2203	4300	6503	SO:0001583	missense	84329			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.503A>G	12.37:g.111089162T>C	ENSP00000349181:p.His168Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	t	26.4	4.731849	0.89390	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	M	0.75777	2.31	0.80722	D	1	P;D	0.89917	0.947;1.0	P;D	0.85130	0.762;0.997	D	0.99811	1.1041	10	0.59425	D	0.04	-38.088	15.6225	0.76816	0.0:0.0:0.0:1.0	.	168;168	Q96D96;Q96D96-3	HVCN1_HUMAN;.	R	168;168;168;148	ENSP00000449601:H168R;ENSP00000242607:H168R;ENSP00000349181:H168R;ENSP00000412052:H148R	ENSP00000242607:H168R	H	-	2	0	HVCN1	109573545	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.013000	0.88655	2.101000	0.63845	0.398000	0.26397	CAC		0.483	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1		NM_032369	
IP6K2	51447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48732607	48732607	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:48732607G>T	ENST00000328631.5	-	2	341	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	IP6K2_ENST00000413298.1_Missense_Mutation_p.L40M|IP6K2_ENST00000443964.1_Missense_Mutation_p.L99M|IP6K2_ENST00000432678.2_Missense_Mutation_p.L40M|IP6K2_ENST00000446860.1_Missense_Mutation_p.L98M|IP6K2_ENST00000453202.1_Missense_Mutation_p.L40M|IP6K2_ENST00000450045.1_Missense_Mutation_p.L94M|IP6K2_ENST00000449610.1_Missense_Mutation_p.L40M|IP6K2_ENST00000340879.4_Missense_Mutation_p.L40M|IP6K2_ENST00000431721.2_Missense_Mutation_p.L95M|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000417896.1_Missense_Mutation_p.L40M	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	40					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L40M(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GGCTTGCACAGGGTTGTCTCA	0.597																																																	3	Substitution - Missense(3)	kidney(3)											107.0	103.0	104.0					3																	48732607		2203	4300	6503	SO:0001583	missense	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.118C>A	3.37:g.48732607G>T	ENSP00000331103:p.Leu40Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356909	0.82243	.	.	ENSG00000068745	ENST00000328631;ENST00000449563;ENST00000413654;ENST00000443853;ENST00000437427;ENST00000412850;ENST00000454335;ENST00000340879;ENST00000432678;ENST00000431721;ENST00000449610;ENST00000413298;ENST00000450045;ENST00000446860;ENST00000455545;ENST00000417896;ENST00000443964;ENST00000453202;ENST00000440424;ENST00000434860;ENST00000424035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.67	3.68	0.42216	.	0.053078	0.64402	D	0.000001	T	0.77164	0.4090	L	0.46157	1.445	0.39844	D	0.973151	D;D;D;D;P;D;P	0.71674	0.998;0.998;0.998;0.993;0.664;0.998;0.664	P;P;P;P;B;P;B	0.62649	0.903;0.905;0.905;0.865;0.109;0.905;0.109	T	0.78560	-0.2157	10	0.87932	D	0	-25.2646	6.952	0.24550	0.0914:0.0:0.5495:0.359	.	98;94;95;94;40;94;40	B4E3G6;A8K636;A8K3B1;C9J124;B2RCP4;C9JRM0;Q9UHH9	.;.;.;.;.;.;IP6K2_HUMAN	M	40;40;40;40;40;40;94;40;40;95;40;40;94;98;98;40;99;40;40;40;94	ENSP00000331103:L40M;ENSP00000411776:L40M;ENSP00000414428:L40M;ENSP00000389761:L40M;ENSP00000403968:L40M;ENSP00000395819:L40M;ENSP00000412121:L94M;ENSP00000341925:L40M;ENSP00000400812:L40M;ENSP00000414139:L95M;ENSP00000393077:L40M;ENSP00000396203:L40M;ENSP00000394488:L94M;ENSP00000399052:L98M;ENSP00000410454:L98M;ENSP00000388116:L40M;ENSP00000410950:L99M;ENSP00000387394:L40M;ENSP00000393797:L40M;ENSP00000388420:L40M	ENSP00000331103:L40M	L	-	1	2	IP6K2	48707611	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.753000	0.47524	1.377000	0.46286	0.305000	0.20034	CTG		0.597	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2		NM_016291	
IZUMO1	284359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49249008	49249008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:49249008C>A	ENST00000332955.2	-	2	656	c.109G>T	c.(109-111)Gag>Tag	p.E37*		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	37					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E37*(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TAATCTTTCTCCAGGGACTTT	0.547																																																	1	Substitution - Nonsense(1)	kidney(1)											134.0	136.0	136.0					19																	49249008		2203	4300	6503	SO:0001587	stop_gained	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.109G>T	19.37:g.49249008C>A	ENSP00000327786:p.Glu37*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6Q8P6|Q6Q8P7	Nonsense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	37	6.632614	0.97722	.	.	ENSG00000182264	ENST00000332955	.	.	.	5.11	-0.606	0.11619	.	0.791331	0.11500	N	0.557831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.3378	7.2546	0.26168	0.0:0.5291:0.0:0.4709	.	.	.	.	X	37	.	ENSP00000327786:E37X	E	-	1	0	IZUMO1	53940820	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.028000	0.12350	0.112000	0.17975	-0.291000	0.09656	GAG		0.547	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1		NM_182575	
KCNJ12	3768	hgsc.bcm.edu	37	17	21318663	21318663	+	Silent	SNP	G	G	A	rs72846666	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr17:21318663G>A	ENST00000583088.1	+	3	904	c.9G>A	c.(7-9)gcG>gcA	p.A3A	KCNJ12_ENST00000331718.5_Silent_p.A3A	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	3					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGATGACCGCGGCCAGCCGGG	0.697										Prostate(3;0.18)																																							0																																										SO:0001819	synonymous_variant	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.9G>A	17.37:g.21318663G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
C2CD5	9847	hgsc.bcm.edu;ucsc.edu	37	12	22606900	22606900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:22606900delA	ENST00000333957.4	-	24	3056	c.2801delT	c.(2800-2802)ttafs	p.L934fs	C2CD5_ENST00000536386.1_Frame_Shift_Del_p.L987fs|C2CD5_ENST00000544930.1_Frame_Shift_Del_p.L790fs|C2CD5_ENST00000545552.1_Frame_Shift_Del_p.L988fs|C2CD5_ENST00000446597.1_Frame_Shift_Del_p.L985fs|C2CD5_ENST00000396028.2_Frame_Shift_Del_p.L976fs|C2CD5_ENST00000542676.1_Frame_Shift_Del_p.L985fs	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	934					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATTCCCTCCTAATGCAGCAAC	0.403																																																	0													147.0	132.0	137.0					12																	22606900		2203	4300	6503	SO:0001589	frameshift_variant	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2801delT	12.37:g.22606900delA	ENSP00000334229:p.Leu934fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Frame_Shift_Del	DEL	ENST00000333957.4	37	CCDS31758.1																																																																																				0.403	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1		NM_014802	
KIF1B	23095	broad.mit.edu;ucsc.edu	37	1	10412718	10412718	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:10412718G>A	ENST00000377086.1	+	38	4181	c.3979G>A	c.(3979-3981)Gaa>Aaa	p.E1327K	KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1281K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1327K			O60333	KIF1B_HUMAN	kinesin family member 1B	1327					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.E1281K(1)		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)		TGAGGTGGATGAAGCTGCAGT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											182.0	181.0	181.0					1																	10412718		2203	4300	6503	SO:0001583	missense	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.3979G>A	1.37:g.10412718G>A	ENSP00000366290:p.Glu1327Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	27.3	4.815546	0.90790	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73575	-0.68;-0.76;-0.76	5.76	4.85	0.62838	.	0.101452	0.64402	D	0.000002	T	0.79857	0.4518	M	0.66939	2.045	0.58432	D	0.999995	P;P;P;P;B;B	0.52316	0.689;0.928;0.952;0.881;0.174;0.447	P;P;P;P;B;B	0.55222	0.595;0.559;0.771;0.734;0.142;0.075	T	0.76822	-0.2817	10	0.16420	T	0.52	.	15.0704	0.72030	0.068:0.0:0.932:0.0	.	1313;1287;1327;1301;1327;1281	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1327;1281;1327;1327	ENSP00000263934:E1281K;ENSP00000366290:E1327K;ENSP00000366284:E1327K	ENSP00000263934:E1281K	E	+	1	0	KIF1B	10335305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	1.436000	0.47453	0.655000	0.94253	GAA		0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129588309	129588309	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr6:129588309C>T	ENST00000421865.2	+	16	2316	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	756	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.P756L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCTGTGAGCCATGTCAGTGC	0.473																																																	1	Substitution - Missense(1)	kidney(1)											345.0	291.0	309.0					6																	129588309		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2267C>T	6.37:g.129588309C>T	ENSP00000400365:p.Pro756Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421857	0.62622	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.38077	1.16	5.66	5.66	0.87406	.	0.220654	0.39274	N	0.001420	T	0.51261	0.1664	M	0.71206	2.165	0.58432	D	0.999997	D;P	0.69078	0.997;0.919	P;B	0.59643	0.861;0.324	T	0.54715	-0.8252	10	0.87932	D	0	.	19.7324	0.96188	0.0:1.0:0.0:0.0	.	756;756	A6NF00;P24043	.;LAMA2_HUMAN	L	756	ENSP00000400365:P756L	ENSP00000346769:P756L	P	+	2	0	LAMA2	129630002	0.992000	0.36948	0.980000	0.43619	0.974000	0.67602	3.259000	0.51515	2.663000	0.90544	0.655000	0.94253	CCA		0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			
LIPE	3991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42930828	42930828	+	Silent	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:42930828C>T	ENST00000244289.4	-	1	750	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	158					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.A158A(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TAGCCTGGGCCGCAGGTGTTG	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	89.0	90.0					19																	42930828		2203	4300	6503	SO:0001819	synonymous_variant	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.474G>A	19.37:g.42930828C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																				0.567	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357	
LMBR1	64327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156518213	156518213	+	Silent	SNP	A	A	G	rs534746017		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:156518213A>G	ENST00000353442.5	-	14	1310	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	LMBR1_ENST00000359422.4_Silent_p.L206L|LMBR1_ENST00000540390.1_Silent_p.L337L|LMBR1_ENST00000354505.4_Silent_p.L399L	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	358					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.L358L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AGGACACCATAAGATAGCTGT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	83.0	82.0					7																	156518213		2203	4300	6503	SO:0001819	synonymous_variant	64327			AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1074T>C	7.37:g.156518213A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Silent	SNP	ENST00000353442.5	37	CCDS5945.1																																																																																				0.398	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3		NM_022458	
AADACL2-AS1	101928142	broad.mit.edu	37	3	151502565	151502566	+	RNA	INS	-	-	AG	rs10680776|rs397712369|rs35254519	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:151502565_151502566insAG	ENST00000483843.2	-	0	439				RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA																							TGTAAAATGCCAGTTTTAGTCA	0.302														1708	0.341054	0.5045	0.2997	5008	,	,		20377	0.2609		0.2783	False		,,,				2504	0.2965																0																																												201651																															3.37:g.151502566_151502567dupAG		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS	ENST00000483843.2	37																																																																																					0.302	RP11-454C18.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000357888.2			
RP11-252A24.2	0	broad.mit.edu	37	16	74372753	74372753	+	RNA	SNP	T	T	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr16:74372753T>A	ENST00000429810.2	-	0	1443																											CCTACCGGTCTGGAAGTCCCA	0.502																																																	0																																												283922																															16.37:g.74372753T>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000429810.2	37																																																																																					0.502	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			
LOC645752	645752	broad.mit.edu	37	15	78208251	78208251	+	lincRNA	SNP	C	C	T	rs565542005		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:78208251C>T	ENST00000565869.1	+	0	0				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCTTCTCCTTCGGGAGGTCCG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.001																0																																												645752																															15.37:g.78208251C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000565869.1	37																																																																																					0.592	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			
LRGUK	136332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	133812165	133812165	+	Silent	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:133812165T>C	ENST00000285928.2	+	1	114	c.45T>C	c.(43-45)tcT>tcC	p.S15S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	15						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S15S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGCTGCCTCTCTCCTGAGAG	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	91.0	90.0					7																	133812165		2203	4300	6503	SO:0001819	synonymous_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.45T>C	7.37:g.133812165T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3I1	Silent	SNP	ENST00000285928.2	37	CCDS5830.1																																																																																				0.602	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1		NM_144648	
MAP4K3	8491	hgsc.bcm.edu;ucsc.edu	37	2	39564675	39564675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:39564675delT	ENST00000263881.3	-	5	682	c.358delA	c.(358-360)acafs	p.T120fs	MAP4K3_ENST00000437545.1_Frame_Shift_Del_p.T57fs|MAP4K3_ENST00000341681.5_Frame_Shift_Del_p.T120fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTGCAGTGTTTCTCTGCTA	0.318																																																	0													121.0	119.0	120.0					2																	39564675		2203	4295	6498	SO:0001589	frameshift_variant	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.358delA	2.37:g.39564675delT	ENSP00000263881:p.Thr120fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Frame_Shift_Del	DEL	ENST00000263881.3	37	CCDS1803.1																																																																																				0.318	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618	
MAP7D1	55700	broad.mit.edu	37	1	36644331	36644333	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:36644331_36644333delGGA	ENST00000373151.2	+	11	2148_2150	c.1932_1934delGGA	c.(1930-1935)gcggag>gcg	p.E645del	MAP7D1_ENST00000373150.4_In_Frame_Del_p.E613del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.E182del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.E608del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	645					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGCCCGggcggagcgggaggcg	0.729																																																	0																																										SO:0001651	inframe_deletion	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1932_1934delGGA	1.37:g.36644331_36644333delGGA	ENSP00000362244:p.Glu645del	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	ENST00000373151.2	37	CCDS30673.1																																																																																				0.729	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067	
MGA	23269	hgsc.bcm.edu;ucsc.edu	37	15	42003437	42003437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:42003437delC	ENST00000570161.1	+	7	2974	c.2974delC	c.(2974-2976)cagfs	p.Q992fs	MGA_ENST00000389936.4_Frame_Shift_Del_p.Q992fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.Q992fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.Q992fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.Q992fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTAAATCTCAGGTGAAGCT	0.463																																																	0													55.0	58.0	57.0					15																	42003437		2031	4207	6238	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2974delC	15.37:g.42003437delC	ENSP00000457035:p.Gln992fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1	
NBPF10	100132406	broad.mit.edu	37	1	145323667	145323667	+	Missense_Mutation	SNP	C	C	G	rs199626421		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:145323667C>G	ENST00000342960.5	+	27	3539	c.3504C>G	c.(3502-3504)gaC>gaG	p.D1168E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D1168E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTAAAAAGGACGAAGAAGAGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3504C>G	1.37:g.145323667C>G	ENSP00000345684:p.Asp1168Glu	Somatic		WXS	Illumina GAIIx	Phase_I	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	8.960	0.970347	0.18659	.	.	ENSG00000163386	ENST00000342960	T	0.03272	3.99	.	.	.	.	.	.	.	.	T	0.01905	0.0060	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.41716	-0.9493	5	0.42905	T	0.14	.	.	.	.	.	.	.	.	E	1168	ENSP00000345684:D1168E	ENSP00000345684:D1168E	D	+	3	2	NBPF10	144035024	0.003000	0.15002	0.002000	0.10522	0.088000	0.18126	0.035000	0.13797	-0.430000	0.07318	0.152000	0.16155	GAC		0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703	
NEDD4	4734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56208589	56208589	+	Silent	SNP	A	A	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:56208589A>G	ENST00000508342.1	-	1	740	c.441T>C	c.(439-441)tgT>tgC	p.C147C	NEDD4_ENST00000338963.2_Silent_p.C147C|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Silent_p.C147C	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	147	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.C147C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGCTACCACTACAAATGGCTG	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											196.0	178.0	184.0					15																	56208589		2193	4292	6485	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.441T>C	15.37:g.56208589A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37																																																																																					0.413	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1		NM_198400	
NFX1	4799	broad.mit.edu	37	9	33351750	33351750	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:33351750A>G	ENST00000379540.3	+	16	2679	c.2617A>G	c.(2617-2619)Acc>Gcc	p.T873A	Y_RNA_ENST00000363674.1_RNA|NFX1_ENST00000379521.4_Missense_Mutation_p.T873A	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	873					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T873A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACCCTGCCATACCAGCTCACC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											74.0	68.0	70.0					9																	33351750		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2617A>G	9.37:g.33351750A>G	ENSP00000368856:p.Thr873Ala	Somatic		WXS	Illumina GAIIx	Phase_I	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.602173	0.28534	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000263220	T;T	0.39997	1.05;1.05	5.88	2.92	0.33932	Zinc finger, NF-X1-type (1);	0.465074	0.25708	N	0.028821	T	0.14141	0.0342	N	0.01140	-0.99	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30208	-0.9986	10	0.02654	T	1	.	13.2438	0.60012	0.4307:0.5693:0.0:0.0	.	873;873	Q12986;Q12986-2	NFX1_HUMAN;.	A	873;873;70	ENSP00000368856:T873A;ENSP00000368836:T873A	ENSP00000263220:T70A	T	+	1	0	NFX1	33341750	0.975000	0.34042	0.999000	0.59377	0.985000	0.73830	2.543000	0.45752	0.323000	0.23307	-0.213000	0.12676	ACC		0.552	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			
OSBPL5	114879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3109542	3109542	+	Missense_Mutation	SNP	G	G	A	rs150730024		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:3109542G>A	ENST00000263650.7	-	22	2692	c.2533C>T	c.(2533-2535)Cgg>Tgg	p.R845W	OSBPL5_ENST00000478260.1_Missense_Mutation_p.R299W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R777W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R756W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R777W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R476W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	845					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.R845W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTGCTGCCCGTGCCGTGGAG	0.642																																																	1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	50.0	47.0	48.0		2329,2533,2329	-1.1	0.0	11	dbSNP_134	48	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	101,101,101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	777/812,845/880,777/812	3109542	1,12999	2202	4298	6500	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2533C>T	11.37:g.3109542G>A	ENSP00000263650:p.Arg845Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	CCDS31344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.77|15.77	2.930716|2.930716	0.52866|0.52866	0.0|0.0	1.16E-4|1.16E-4	ENSG00000021762|ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039|ENST00000357352	T;T;T;T;T;T;T|.	0.46451|.	0.87;1.46;1.47;0.88;1.47;0.87;1.47|.	4.77|4.77	-1.08|-1.08	0.09936|0.09936	.|.	0.408050|.	0.23955|.	N|.	0.042916|.	T|T	0.32882|0.32882	0.0844|0.0844	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;D;P|.	0.53312|.	0.857;0.959;0.738|.	P;P;P|.	0.51657|.	0.462;0.676;0.462|.	T|T	0.33523|0.33523	-0.9865|-0.9865	10|6	0.66056|0.48119	D|T	0.02|0.1	-16.8355|-16.8355	5.6793|5.6793	0.17765|0.17765	0.2244:0.0:0.4887:0.2869|0.2244:0.0:0.4887:0.2869	.|.	756;777;845|.	B4DVB0;Q8N596;Q9H0X9|.	.;.;OSBL5_HUMAN|.	W|M	299;845;777;398;756;476;777|410	ENSP00000437141:R299W;ENSP00000263650:R845W;ENSP00000374639:R777W;ENSP00000431412:R398W;ENSP00000433342:R756W;ENSP00000441551:R476W;ENSP00000302872:R777W|.	ENSP00000263650:R845W|ENSP00000349912:T410M	R|T	-|-	1|2	2|0	OSBPL5|OSBPL5	3066118|3066118	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	0.051000|0.051000	0.14141|0.14141	-0.111000|-0.111000	0.12001|0.12001	-0.254000|-0.254000	0.11334|0.11334	CGG|ACG		0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			
PAPOLG	64895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61019416	61019416	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:61019416A>T	ENST00000238714.3	+	17	1920	c.1671A>T	c.(1669-1671)gaA>gaT	p.E557D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	557					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E557D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CTGTAGGAGAAACAGAAAGGT	0.398																																					GBM(183;1497 2932 21839 46797)												1	Substitution - Missense(1)	kidney(1)											61.0	66.0	64.0					2																	61019416		2203	4300	6503	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1671A>T	2.37:g.61019416A>T	ENSP00000238714:p.Glu557Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	A	2.061	-0.415330	0.04766	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	6.04	-0.701	0.11269	.	0.392111	0.28983	N	0.013509	T	0.15349	0.0370	N	0.22421	0.69	0.21325	N	0.999723	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15665	-1.0429	9	0.12430	T	0.62	-13.846	1.6783	0.02827	0.3246:0.2513:0.3023:0.1218	.	246;91;557	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	D	557;246;225	.	ENSP00000238714:E557D	E	+	3	2	PAPOLG	60872920	0.300000	0.24435	0.021000	0.16686	0.046000	0.14306	0.898000	0.28404	-0.323000	0.08602	0.460000	0.39030	GAA		0.398	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3		NM_022894	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52682446	52682462	+	Splice_Site	DEL	TGTAGCTTCCATTCTAC	TGTAGCTTCCATTCTAC	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	TGTAGCTTCCATTCTAC	TGTAGCTTCCATTCTAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:52682446_52682462delTGTAGCTTCCATTCTAC	ENST00000296302.7	-	7	716_728	c.715_727delGTAGAATGGAAGCTACA	c.(715-729)gtagaatggaagcta>ta	p.VEWKL239fs	PBRM1_ENST00000337303.4_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000409767.1_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000410007.1_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000394830.3_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000356770.4_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000409114.3_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000409057.1_Splice_Site_p.VEWKL239fs			Q86U86	PB1_HUMAN	polybromo 1	239	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y242H(3)|p.?(3)|p.K243*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAATACTTTTGTAGCTTCCATTCTACAATAAACAAC	0.332			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	9	Substitution - Nonsense(3)|Substitution - Missense(3)|Unknown(3)	kidney(9)																																								SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.715-1GTAGAATGGAAGCTACA>-	3.37:g.52682446_52682462delTGTAGCTTCCATTCTAC		Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.332	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Frame_Shift_Del
PFKL	5211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45742915	45742915	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr21:45742915G>A	ENST00000349048.4	+	15	1535	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M	PFKL_ENST00000403390.1_Missense_Mutation_p.V541M	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	494	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.V541M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCCCTGCTGGTGGTCGGTGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											147.0	112.0	124.0					21																	45742915		2203	4299	6502	SO:0001583	missense	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1480G>A	21.37:g.45742915G>A	ENSP00000269848:p.Val494Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933942	0.18206	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.82893	-1.66;-1.66	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.000000	0.64402	U	0.000002	D	0.89434	0.6714	M	0.83384	2.64	0.50039	D	0.99984	B;D	0.53619	0.425;0.961	B;P	0.60473	0.3;0.875	D	0.89687	0.3895	10	0.44086	T	0.13	-42.4452	12.9604	0.58455	0.0:0.0:1.0:0.0	.	494;541	P17858;P17858-2	K6PL_HUMAN;.	M	494;287;541	ENSP00000269848:V494M;ENSP00000384038:V541M	ENSP00000269848:V494M	V	+	1	0	PFKL	44567343	1.000000	0.71417	0.898000	0.35279	0.054000	0.15201	2.556000	0.45862	1.693000	0.51124	0.491000	0.48974	GTG		0.602	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			
PHACTR3	116154	broad.mit.edu;hgsc.bcm.edu	37	20	58342420	58342420	+	Missense_Mutation	SNP	G	G	A	rs200253435		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr20:58342420G>A	ENST00000371015.1	+	5	1188	c.721G>A	c.(721-723)Gca>Aca	p.A241T	PHACTR3_ENST00000395636.2_Missense_Mutation_p.A200T|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A200T|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A238T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A200T|PHACTR3_ENST00000361300.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	241						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A241T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCCACCCAAGGCAAGCTCCAA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19184	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											31.0	28.0	29.0					20																	58342420		2201	4299	6500	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.721G>A	20.37:g.58342420G>A	ENSP00000360054:p.Ala241Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.07	1.249528	0.22880	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	4.57	1.15	0.20763	.	0.515494	0.20985	N	0.082153	T	0.11367	0.0277	N	0.13043	0.29	0.29476	N	0.85672	B;B	0.17465	0.01;0.022	B;B	0.14023	0.005;0.01	T	0.25433	-1.0132	10	0.14252	T	0.57	-6.981	6.8745	0.24139	0.1771:0.0:0.6684:0.1544	.	241;238	Q96KR7;B1AKX0	PHAR3_HUMAN;.	T	238;241;200;200;200	ENSP00000353002:A238T;ENSP00000360054:A241T;ENSP00000442483:A200T;ENSP00000347866:A200T;ENSP00000378998:A200T	ENSP00000347866:A200T	A	+	1	0	PHACTR3	57775815	1.000000	0.71417	0.921000	0.36526	0.992000	0.81027	1.071000	0.30666	0.901000	0.36495	0.467000	0.42956	GCA		0.572	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3		NM_080672	
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu	37	22	21081564	21081564	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr22:21081564G>A	ENST00000572273.1	-	41	4951	c.4721C>T	c.(4720-4722)cCt>cTt	p.P1574L	PI4KA_ENST00000414196.3_Missense_Mutation_p.P384L|PI4KA_ENST00000255882.6_Missense_Mutation_p.P1632L|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1574	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.P1574L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGCCGTGAGAGGGTGCGGCGG	0.662																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - Missense(2)	kidney(2)											38.0	39.0	38.0					22																	21081564		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4721C>T	22.37:g.21081564G>A	ENSP00000458238:p.Pro1574Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	26.1	4.704285	0.88924	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.64618	-0.11	5.97	4.94	0.65067	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84738	0.0749	10	0.87932	D	0	-18.8178	17.1167	0.86690	0.0:0.1267:0.8733:0.0	.	1574	P42356	PI4KA_HUMAN	L	1574;384	ENSP00000402981:P384L	ENSP00000255882:P1574L	P	-	2	0	PI4KA	19411564	1.000000	0.71417	0.995000	0.50966	0.601000	0.36947	9.849000	0.99510	1.503000	0.48686	0.655000	0.94253	CCT		0.662	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_058004	
PLXDC2	84898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	20106053	20106053	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:20106053G>A	ENST00000377252.4	+	1	886	c.45G>A	c.(43-45)atG>atA	p.M15I	PLXDC2_ENST00000377242.3_Missense_Mutation_p.M15I	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	15					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M15I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGGAGTTATGTTACTTTGCC	0.597											OREG0020062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											69.0	60.0	63.0					10																	20106053		2199	4287	6486	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.45G>A	10.37:g.20106053G>A	ENSP00000366460:p.Met15Ile	Somatic	738	WXS	Illumina HiSeq	Phase_I	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529730	0.44969	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.21361	2.05;2.01	4.57	3.58	0.41010	.	0.376118	0.21786	N	0.069123	T	0.10035	0.0246	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08534	-1.0717	10	0.87932	D	0	.	6.7552	0.23510	0.1296:0.0:0.8704:0.0	.	15;15	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	I	15;15;1	ENSP00000366460:M15I;ENSP00000366450:M15I	ENSP00000366450:M15I	M	+	3	0	PLXDC2	20146059	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.629000	0.46485	2.378000	0.81104	0.563000	0.77884	ATG		0.597	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2		NM_032812	
PPP1R2P9	80316	broad.mit.edu	37	X	42637261	42637261	+	IGR	DEL	A	A	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chrX:42637261delA								RP1-154K9.2 (78719 upstream) : RP3-326I13.1 (398981 downstream)																							GTCGCCACCGAGGAACCCGAC	0.552																																																	0																																										SO:0001628	intergenic_variant	80316																															X.37:g.42637261delA		Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL		37																																																																																				0	0.552									
PTPRD	5789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	8500875	8500875	+	Silent	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:8500875A>T	ENST00000381196.4	-	21	2550	c.2007T>A	c.(2005-2007)acT>acA	p.T669T	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Silent_p.T669T|PTPRD_ENST00000360074.4_Silent_p.T656T|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.T656T|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Silent_p.T669T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	669	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T669T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTATTTGGTAGTGTCCGAAG	0.473										TSP Lung(15;0.13)																																							1	Substitution - coding silent(1)	kidney(1)											243.0	230.0	234.0					9																	8500875		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2007T>A	9.37:g.8500875A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			
RAB3GAP1	22930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135926271	135926271	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:135926271C>A	ENST00000264158.8	+	24	2909	c.2866C>A	c.(2866-2868)Cct>Act	p.P956T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P912T|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P963T|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	956					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.P956T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CAAAGCTCTGCCTCAGCGGAT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											107.0	106.0	106.0					2																	135926271		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2866C>A	2.37:g.135926271C>A	ENSP00000264158:p.Pro956Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836342	0.91117	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.69685	0.07;-0.42;0.11	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.73962	2.25	0.80722	D	1	D;P	0.53885	0.963;0.848	P;P	0.49637	0.617;0.537	T	0.78079	-0.2344	10	0.59425	D	0.04	-12.5553	20.3214	0.98679	0.0:1.0:0.0:0.0	.	963;956	C9J837;Q15042	.;RB3GP_HUMAN	T	956;912;963	ENSP00000264158:P956T;ENSP00000444306:P912T;ENSP00000411418:P963T	ENSP00000264158:P956T	P	+	1	0	RAB3GAP1	135642741	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.482000	0.81143	2.804000	0.96469	0.655000	0.94253	CCT		0.517	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233	
RB1CC1	9821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	53586507	53586507	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr8:53586507A>T	ENST00000025008.5	-	7	1423	c.900T>A	c.(898-900)gaT>gaA	p.D300E	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D300E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D300E|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	300					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.D300E(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAAGGGCAGATCACCATCTT	0.383																																					GBM(180;1701 2102 13475 42023 52570)												1	Substitution - Missense(1)	kidney(1)											144.0	131.0	135.0					8																	53586507		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.900T>A	8.37:g.53586507A>T	ENSP00000025008:p.Asp300Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778680	0.49891	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.13778	2.56;2.56;2.56	5.49	1.47	0.22746	.	0.197517	0.42420	N	0.000720	T	0.06645	0.0170	N	0.14661	0.345	0.33730	D	0.618106	P;P	0.41131	0.739;0.622	B;B	0.39119	0.291;0.152	T	0.39461	-0.9613	10	0.23302	T	0.38	-12.7653	7.0232	0.24926	0.7304:0.1244:0.1452:0.0	.	300;300	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	E	300	ENSP00000025008:D300E;ENSP00000396067:D300E;ENSP00000445960:D300E	ENSP00000025008:D300E	D	-	3	2	RB1CC1	53749060	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	2.672000	0.46850	0.372000	0.24591	0.460000	0.39030	GAT		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781	
RBMXL3	139804	broad.mit.edu	37	X	114425790	114425790	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chrX:114425790G>A	ENST00000424776.3	+	1	1828	c.1786G>A	c.(1786-1788)Ggc>Agc	p.G596S	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	596	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G596S(1)		endometrium(13)|kidney(2)|skin(1)	16						GGAGTACCGAGGCCGCTCCCT	0.682																																																	1	Substitution - Missense(1)	kidney(1)											48.0	50.0	49.0					X																	114425790		692	1591	2283	SO:0001583	missense	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1786G>A	X.37:g.114425790G>A	ENSP00000417451:p.Gly596Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570496	0.45798	.	.	ENSG00000175718	ENST00000424776	T	0.07216	3.21	0.844	0.844	0.18943	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.65323	0.934	T	0.28202	-1.0051	9	0.87932	D	0	.	4.349	0.11146	1.0E-4:0.0:0.6202:0.3797	.	596	Q8N7X1	RMXL3_HUMAN	S	596	ENSP00000417451:G596S	ENSP00000417451:G596S	G	+	1	0	RBMXL3	114332046	0.009000	0.17119	0.218000	0.23776	0.219000	0.24729	1.125000	0.31332	0.080000	0.16959	0.081000	0.15443	GGC		0.682	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3		NM_001145346	
RSPH3	83861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	159420742	159420742	+	Silent	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr6:159420742A>T	ENST00000252655.1	-	1	456	c.267T>A	c.(265-267)ggT>ggA	p.G89G	RSPH3_ENST00000449822.1_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000297262.3_Silent_p.G89G	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	89								p.G89G(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ACGGGAGGTTACCAGCGCAGG	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	102.0	98.0					6																	159420742		2203	4300	6503	SO:0001819	synonymous_variant	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.267T>A	6.37:g.159420742A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	CCDS5260.1																																																																																				0.647	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_031924	
SAE1	10055	hgsc.bcm.edu	37	19	47646781	47646782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:47646781_47646782insT	ENST00000270225.7	+	2	197_198	c.129_130insT	c.(130-132)ttgfs	p.L44fs	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000413379.3_Frame_Shift_Ins_p.L44fs|SAE1_ENST00000598840.1_Frame_Shift_Ins_p.L44fs|SAE1_ENST00000392776.3_Frame_Shift_Ins_p.L44fs	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	44					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCTTGTCGGCTTGAAAGGACT	0.48																																																	0																																										SO:0001589	frameshift_variant	10055			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.131dupT	19.37:g.47646783_47646783dupT	ENSP00000270225:p.Leu44fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Frame_Shift_Ins	INS	ENST00000270225.7	37	CCDS12696.1																																																																																				0.480	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1		NM_005500	
SF3A1	10291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30736281	30736281	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr22:30736281C>G	ENST00000215793.8	-	9	1433	c.1279G>C	c.(1279-1281)Gaa>Caa	p.E427Q	SF3A1_ENST00000439242.1_Missense_Mutation_p.E362Q	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	427					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E427Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGCATGTGTTCCTGCATTTTG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											72.0	70.0	71.0					22																	30736281		2203	4300	6503	SO:0001583	missense	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1279G>C	22.37:g.30736281C>G	ENSP00000215793:p.Glu427Gln	Somatic		WXS	Illumina HiSeq	Phase_I	E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297514	0.81025	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.41400	1.0;1.05	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	L	0.59912	1.85	0.80722	D	1	P	0.52170	0.951	P	0.49637	0.617	T	0.47724	-0.9095	10	0.46703	T	0.11	-12.4606	20.6439	0.99570	0.0:1.0:0.0:0.0	.	427	Q15459	SF3A1_HUMAN	Q	362;427;324;123	ENSP00000390336:E362Q;ENSP00000215793:E427Q	ENSP00000215793:E427Q	E	-	1	0	SF3A1	29066281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.684000	0.84104	2.884000	0.98904	0.655000	0.94253	GAA		0.567	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877	
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112360237	112360237	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:112360237G>C	ENST00000361804.4	+	22	2594	c.2468G>C	c.(2467-2469)gGt>gCt	p.G823A		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	823					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.G823A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAATTAGAAGGTATTATTACT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											74.0	86.0	82.0					10																	112360237		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2468G>C	10.37:g.112360237G>C	ENSP00000354720:p.Gly823Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946512	0.18356	.	.	ENSG00000108055	ENST00000361804	T	0.74842	-0.88	5.81	5.81	0.92471	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	N	0.00690	-1.25	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.56872	-0.7907	10	0.02654	T	1	.	20.0755	0.97742	0.0:0.0:1.0:0.0	.	823	Q9UQE7	SMC3_HUMAN	A	823	ENSP00000354720:G823A	ENSP00000354720:G823A	G	+	2	0	SMC3	112350227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.749000	0.94314	0.460000	0.39030	GGT		0.323	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445	
SMC3	9126	broad.mit.edu;ucsc.edu	37	10	112360239	112360239	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:112360239A>T	ENST00000361804.4	+	22	2596	c.2470A>T	c.(2470-2472)Att>Ttt	p.I824F		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	824					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.I824F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTAGAAGGTATTATTACTCG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											74.0	86.0	82.0					10																	112360239		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2470A>T	10.37:g.112360239A>T	ENSP00000354720:p.Ile824Phe	Somatic		WXS	Illumina GAIIx	Phase_I	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712266	0.68730	.	.	ENSG00000108055	ENST00000361804	T	0.75938	-0.98	5.81	5.81	0.92471	RecF/RecN/SMC (1);	0.042581	0.85682	D	0.000000	T	0.51907	0.1702	N	0.08118	0	0.80722	D	1	P	0.48911	0.917	B	0.31495	0.131	T	0.64287	-0.6443	10	0.62326	D	0.03	.	16.1616	0.81721	1.0:0.0:0.0:0.0	.	824	Q9UQE7	SMC3_HUMAN	F	824	ENSP00000354720:I824F	ENSP00000354720:I824F	I	+	1	0	SMC3	112350229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.218000	0.71995	0.377000	0.23210	ATT		0.323	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445	
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16260060	16260060	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:16260060A>T	ENST00000375759.3	+	11	7529	c.7325A>T	c.(7324-7326)gAg>gTg	p.E2442V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2442	Interaction with MSX2. {ECO:0000250}.|Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E2442V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGTGGATGAGGAGCCTCAA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											66.0	61.0	63.0					1																	16260060		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7325A>T	1.37:g.16260060A>T	ENSP00000364912:p.Glu2442Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	1.184	-0.637306	0.03557	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	5.16	2.83	0.33086	.	.	.	.	.	T	0.06735	0.0172	N	0.14661	0.345	0.21802	N	0.999536	B	0.13594	0.008	B	0.14578	0.011	T	0.40021	-0.9585	9	0.30854	T	0.27	-3.1131	9.3141	0.37924	0.8526:0.0:0.1474:0.0	.	2442	Q96T58	MINT_HUMAN	V	2442	ENSP00000364912:E2442V	ENSP00000364912:E2442V	E	+	2	0	SPEN	16132647	0.999000	0.42202	0.008000	0.14137	0.016000	0.09150	3.656000	0.54467	0.301000	0.22738	-0.464000	0.05259	GAG		0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
ST3GAL5	8869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86071563	86071563	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:86071563G>C	ENST00000377332.3	-	6	1072	c.964C>G	c.(964-966)Ctt>Gtt	p.L322V	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L294V|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L299V	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	322					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.L322V(1)|p.L299V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GAGTACTGAAGGATGTCAAAG	0.433																																																	2	Substitution - Missense(2)	kidney(2)											109.0	106.0	107.0					2																	86071563		2203	4300	6503	SO:0001583	missense	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.964C>G	2.37:g.86071563G>C	ENSP00000366549:p.Leu322Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661404	0.67700	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.33654	1.4;1.4;1.4	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.83953	2.67	0.80722	D	1	D;D	0.63046	0.992;0.99	D;P	0.63488	0.915;0.819	T	0.63229	-0.6684	10	0.72032	D	0.01	-13.4522	9.8999	0.41342	0.1558:0.0:0.8442:0.0	.	322;299	Q9UNP4;Q9UNP4-3	SIAT9_HUMAN;.	V	299;294;322	ENSP00000377397:L299V;ENSP00000377394:L294V;ENSP00000366549:L322V	ENSP00000366549:L322V	L	-	1	0	ST3GAL5	85925074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.593000	0.61034	2.560000	0.86352	0.585000	0.79938	CTT		0.433	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1		NM_003896	
THOC2	57187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	122769988	122769988	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chrX:122769988G>C	ENST00000245838.8	-	19	1991	c.1960C>G	c.(1960-1962)Cca>Gca	p.P654A	THOC2_ENST00000491737.1_Missense_Mutation_p.P539A|THOC2_ENST00000355725.4_Missense_Mutation_p.P654A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	654					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.P575A(1)|p.P654A(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGATCAATTGGATATTTACGA	0.323																																																	2	Substitution - Missense(2)	kidney(2)											120.0	98.0	105.0					X																	122769988		1827	4076	5903	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1960C>G	X.37:g.122769988G>C	ENSP00000245838:p.Pro654Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706034	0.48412	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	T	0.54967	0.1891	L	0.34521	1.04	0.80722	D	1	B;B	0.29270	0.24;0.128	B;B	0.29353	0.041;0.101	T	0.57849	-0.7740	9	0.66056	D	0.02	-8.0917	17.7	0.88292	0.0:0.0:1.0:0.0	.	579;654	B4DKZ6;Q8NI27	.;THOC2_HUMAN	A	654;654;539;579	.	ENSP00000245838:P654A	P	-	1	0	THOC2	122597669	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.941000	0.87700	2.110000	0.64415	0.415000	0.27848	CCA		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			
TP73	7161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3599704	3599704	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:3599704T>C	ENST00000378295.4	+	3	301	c.146T>C	c.(145-147)aTg>aCg	p.M49T	TP73_ENST00000603362.1_Missense_Mutation_p.M49T|TP73_ENST00000604479.1_Missense_Mutation_p.M49T|TP73_ENST00000354437.4_Missense_Mutation_p.M49T|TP73_ENST00000346387.4_Missense_Mutation_p.M49T|TP73_ENST00000357733.3_Missense_Mutation_p.M49T|TP73_ENST00000604074.1_Missense_Mutation_p.M49T	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	49	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M49T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GATTCCAGCATGGACGTCTTC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											125.0	120.0	122.0					1																	3599704		2203	4300	6503	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.146T>C	1.37:g.3599704T>C	ENSP00000367545:p.Met49Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140606	0.37825	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99548	-5.98;-6.14;-5.83;-5.9	4.74	3.61	0.41365	.	0.000000	0.85682	U	0.000000	D	0.99227	0.9731	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.83275	0.996;0.942	D	0.98586	1.0652	10	0.39692	T	0.17	-20.4172	9.5909	0.39545	0.0:0.0838:0.0:0.9162	.	49;49	O15350-2;O15350	.;P73_HUMAN	T	49	ENSP00000367545:M49T;ENSP00000346423:M49T;ENSP00000350366:M49T;ENSP00000340740:M49T	ENSP00000340740:M49T	M	+	2	0	TP73	3589564	1.000000	0.71417	0.996000	0.52242	0.753000	0.42808	4.300000	0.59079	0.774000	0.33427	0.460000	0.39030	ATG		0.587	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427	
TRIM5	85363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5699642	5699642	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:5699642G>C	ENST00000380034.3	-	4	792	c.536C>G	c.(535-537)aCc>aGc	p.T179S	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Missense_Mutation_p.T179S|TRIM5_ENST00000396855.3_Missense_Mutation_p.T179S|TRIM5_ENST00000380027.1_Missense_Mutation_p.T179S|TRIM5_ENST00000396847.3_Missense_Mutation_p.T179S|TRIM5_ENST00000305836.5_Missense_Mutation_p.T179S	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	179					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T179S(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CAAGACGTTGGTTTTGTCATA	0.463																																																	3	Substitution - Missense(3)	kidney(3)											110.0	106.0	107.0					11																	5699642		2201	4297	6498	SO:0001583	missense	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.536C>G	11.37:g.5699642G>C	ENSP00000369373:p.Thr179Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.664181|1.664181	0.29604|0.29604	.|.	.|.	ENSG00000132256|ENSG00000132256	ENST00000438025|ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	.|T;T;T;T;T;T;T	.|0.71103	.|3.6;3.6;3.6;3.6;3.6;3.6;-0.54	4.74|4.74	-1.73|-1.73	0.08081|0.08081	.|.	.|2.141850	.|0.01883	.|N	.|0.037991	T|T	0.53834|0.53834	0.1821|0.1821	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.37864	.|0.404;0.404;0.61	.|B;B;B	.|0.36186	.|0.196;0.196;0.219	T|T	0.39078|0.39078	-0.9631|-0.9631	5|10	.|0.30854	.|T	.|0.27	.|.	0.061|0.061	0.00015|0.00015	0.305:0.1907:0.172:0.3322|0.305:0.1907:0.172:0.3322	.|.	.|179;179;179	.|Q9C035-3;Q9C035-4;Q9C035	.|.;.;TRIM5_HUMAN	A|S	56|179	.|ENSP00000380064:T179S;ENSP00000307031:T179S;ENSP00000369373:T179S;ENSP00000369366:T179S;ENSP00000380058:T179S;ENSP00000380062:T179S;ENSP00000388031:T179S	.|ENSP00000307031:T179S	P|T	-|-	1|2	0|0	TRIM5|TRIM5	5656218|5656218	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.460000|-0.460000	0.06720|0.06720	-0.188000|-0.188000	0.10499|0.10499	-1.047000|-1.047000	0.02352|0.02352	CCA|ACC		0.463	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3		NM_033034	
TRIP11	9321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	92470128	92470129	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr14:92470128_92470129GC>TT	ENST00000267622.4	-	11	4564_4565	c.4191_4192GC>AA	c.(4189-4194)caGCta>caAAta	p.L1398I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1398					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q1397Q(1)|p.L1398I(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTCCTTTAGCTGCTTGATTT	0.371			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4191_4192delinsTT	14.37:g.92470128_92470129delinsTT	ENSP00000267622:p.Leu1398Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUT2|O14689|O15154|O95949	Missense_Mutation|Silent	SNP	ENST00000267622.4	37	CCDS9899.1																																																																																				0.371	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			
TYW1	55253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	66474585	66474585	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:66474585C>A	ENST00000359626.5	+	4	453	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	97	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.L97I(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGCAACAGTTCTTGCTGAAGC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											143.0	126.0	132.0					7																	66474585		2203	4300	6503	SO:0001583	missense	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.289C>A	7.37:g.66474585C>A	ENSP00000352645:p.Leu97Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306756	0.60305	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	T;T	0.74209	-0.82;-0.82	3.75	3.75	0.43078	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	U	0.000009	D	0.83594	0.5288	M	0.69185	2.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.85562	0.1228	10	0.72032	D	0.01	.	13.406	0.60913	0.0:1.0:0.0:0.0	.	97	Q9NV66	TYW1_HUMAN	I	97	ENSP00000352645:L97I;ENSP00000398897:L97I	ENSP00000352645:L97I	L	+	1	0	TYW1	66112020	1.000000	0.71417	0.978000	0.43139	0.396000	0.30629	3.799000	0.55529	2.096000	0.63516	0.491000	0.48974	CTT		0.393	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2		NM_018264	
TTC26	79989	broad.mit.edu;hgsc.bcm.edu	37	7	138822685	138822685	+	Splice_Site	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:138822685G>A	ENST00000464848.1	+	3	314	c.234G>A	c.(232-234)gaG>gaA	p.E78E	TTC26_ENST00000495038.1_Splice_Site_p.E78E|TTC26_ENST00000430935.1_Splice_Site_p.E78E|TTC26_ENST00000478836.2_Splice_Site_p.E78E|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Splice_Site_p.E78E|TTC26_ENST00000343187.4_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	78					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.E78E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GAGCTCTGGAGGTTAGTGTAA	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	128.0	129.0					7																	138822685		2203	4300	6503	SO:0001630	splice_region_variant	79989			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.234+1G>A	7.37:g.138822685G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	CCDS5852.1																																																																																				0.323	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2		NM_024926	Silent
USH1C	10083	broad.mit.edu;ucsc.edu	37	11	17544964	17544964	+	Splice_Site	SNP	A	A	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:17544964A>C	ENST00000318024.4	-	10	928		c.e10+1		USH1C_ENST00000005226.7_Splice_Site|USH1C_ENST00000527720.1_Splice_Site|USH1C_ENST00000527020.1_Splice_Site	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.?(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCCACATCTCACCTCCTTGTG	0.552																																																	1	Unknown(1)	kidney(1)											141.0	121.0	128.0					11																	17544964		2200	4293	6493	SO:0001630	splice_region_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.819+1T>G	11.37:g.17544964A>C		Somatic		WXS	Illumina GAIIx	Phase_I	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Splice_Site	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038589	0.75617	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9298	0.52839	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH1C	17501540	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	6.045000	0.71020	2.075000	0.62263	0.455000	0.32223	.		0.552	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1		NM_005709	Intron
USP38	84640	broad.mit.edu;hgsc.bcm.edu	37	4	144106648	144106648	+	Silent	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr4:144106648G>A	ENST00000307017.4	+	1	551	c.45G>A	c.(43-45)ctG>ctA	p.L15L	RP11-284M14.1_ENST00000507486.1_RNA|USP38_ENST00000510377.1_Silent_p.L15L|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	15					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L15L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGCATCCCCTGCCCCTCAAGC	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	68.0	71.0					4																	144106648		2203	4300	6503	SO:0001819	synonymous_variant	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.45G>A	4.37:g.144106648G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	CCDS3758.1																																																																																				0.652	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1		NM_032557	
VHL	7428	hgsc.bcm.edu	37	3	10183664	10183664	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5695-01A-11W-1584-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	06b449c9-8ada-46d7-b772-9898a5df5256	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:10183664C>T	ENST00000256474.2	+	1	973	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.P45S	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	45	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				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)			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)		AGAGTCCGGCCCGGAGGAACT	0.721		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"""	0													5.0	9.0	7.0					3																	10183664		2042	4013	6055	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.133C>T	3.37:g.10183664C>T	ENSP00000256474:p.Pro45Ser	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977018	0.34848	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.84442	-1.85;-1.85	2.65	-1.64	0.08318	.	1.482540	0.04888	N	0.448902	T	0.73281	0.3567	N	0.19112	0.55	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.011	T	0.58493	-0.7627	10	0.59425	D	0.04	0.0061	3.5276	0.07765	0.148:0.5058:0.2422:0.104	.	45;45	P40337-2;P40337	.;VHL_HUMAN	S	45	ENSP00000256474:P45S;ENSP00000344757:P45S	ENSP00000256474:P45S	P	+	1	0	VHL	10158664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.941000	0.03925	-0.451000	0.07097	-0.355000	0.07637	CCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191482	10191482	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:10191482A>T	ENST00000256474.2	+	3	1315	c.475A>T	c.(475-477)Aaa>Taa	p.K159*	VHL_ENST00000345392.2_Nonsense_Mutation_p.K118*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	159	Interaction with Elongin BC complex.		K -> E (in VHLD; type II).		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.K159*(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.K159fs*10(1)|p.K159fs*13(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.K159E(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.Y156*(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)		GTATACTCTGAAAGAGCGATG	0.507		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"""	12	Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Nonsense(2)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(11)|adrenal_gland(1)	GRCh37	CM961430	VHL	M							90.0	82.0	84.0					3																	10191482		2203	4300	6503	SO:0001587	stop_gained	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.475A>T	3.37:g.10191482A>T	ENSP00000256474:p.Lys159*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080058	0.76528	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	4.86	0.63082	.	0.056352	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0835	12.7224	0.57149	1.0:0.0:0.0:0.0	.	.	.	.	X	159;118;77	.	ENSP00000256474:K159X	K	+	1	0	VHL	10166482	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	6.694000	0.74587	2.162000	0.67917	0.533000	0.62120	AAA		0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100847487	100847487	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr8:100847487C>G	ENST00000358544.2	+	53	9863	c.9752C>G	c.(9751-9753)cCt>cGt	p.P3251R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3226R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3251					protein transport (GO:0015031)			p.P3226R(1)|p.P3251R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGAAGACCCTAGTCCTCGA	0.348																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	kidney(2)											70.0	73.0	72.0					8																	100847487		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9752C>G	8.37:g.100847487C>G	ENSP00000351346:p.Pro3251Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529428	0.85706	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70749	-0.51;-0.51	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.82028	-0.0660	10	0.72032	D	0.01	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	3226;3251	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	R	3226;3251	ENSP00000349685:P3226R;ENSP00000351346:P3251R	ENSP00000349685:P3226R	P	+	2	0	VPS13B	100916663	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.148000	0.77389	2.733000	0.93635	0.655000	0.94253	CCT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042	
VSIG1	340547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107304759	107304759	+	Intron	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chrX:107304759C>T	ENST00000217957.5	+	2	330				VSIG1_ENST00000415430.3_Silent_p.T105T	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1							integral component of membrane (GO:0016021)		p.T105T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTAGCTGGACCTCTGAGGTAA	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	92.0	96.0					X																	107304759		692	1591	2283	SO:0001627	intron_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.213+3328C>T	X.37:g.107304759C>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	CCDS14535.1																																																																																				0.512	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1		NM_182607	
YTHDF1	54915	broad.mit.edu;ucsc.edu	37	20	61834018	61834018	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr20:61834018A>G	ENST00000370339.3	-	4	1615	c.1274T>C	c.(1273-1275)tTc>tCc	p.F425S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.F375S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	425	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.F425S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CATGCAGCGGAAGGCGCTGTC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											72.0	67.0	69.0					20																	61834018		2203	4300	6503	SO:0001583	missense	54915			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1274T>C	20.37:g.61834018A>G	ENSP00000359364:p.Phe425Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.37235	1.21;1.21	5.02	5.02	0.67125	YTH domain (2);	0.044961	0.85682	D	0.000000	T	0.65678	0.2714	M	0.90759	3.145	0.58432	D	0.999998	D	0.60575	0.988	D	0.66979	0.948	T	0.74609	-0.3608	10	0.87932	D	0	-28.9748	14.7491	0.69511	1.0:0.0:0.0:0.0	.	425	Q9BYJ9	YTHD1_HUMAN	S	425;375	ENSP00000359364:F425S;ENSP00000359358:F375S	ENSP00000359358:F375S	F	-	2	0	YTHDF1	61304463	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.901000	0.69861	1.896000	0.54893	0.482000	0.46254	TTC		0.572	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2		NM_017798	
ZKSCAN1	7586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99631591	99631591	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:99631591C>G	ENST00000324306.6	+	6	1697	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.P275R|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.P452R	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P488R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGGGAGAAACCCTATGAATGT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											72.0	79.0	77.0					7																	99631591		2203	4300	6503	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1463C>G	7.37:g.99631591C>G	ENSP00000323148:p.Pro488Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370430	0.82573	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.56444	0.46;0.46;2.29	5.08	5.08	0.68730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000020	T	0.74084	0.3670	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77289	-0.2643	10	0.87932	D	0	.	16.3706	0.83357	0.0:1.0:0.0:0.0	.	488	P17029	ZKSC1_HUMAN	R	488;452;275	ENSP00000323148:P488R;ENSP00000409172:P452R;ENSP00000443508:P275R	ENSP00000323148:P488R	P	+	2	0	ZKSCAN1	99469527	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	3.233000	0.51311	2.802000	0.96397	0.563000	0.77884	CCC		0.468	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2		NM_003439	
