#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PADI4	23569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	17674521	17674521	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:17674521A>T	ENST00000375448.4	+	10	1159	c.1133A>T	c.(1132-1134)gAg>gTg	p.E378V	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	378					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGCCTGAAGGAGTTTCCCATC	0.567																																					p.E378V		.											.	PADI4-70	0			c.A1133T						.						99.0	89.0	92.0					1																	17674521		2203	4300	6503	SO:0001583	missense	23569	exon10			TGAAGGAGTTTCC	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1133A>T	1.37:g.17674521A>T	ENSP00000364597:p.Glu378Val	Somatic	129	0		WXS	Illumina HiSeq	Phase_I	83	26	NM_012387	0	0	0	0	0	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	-	15.98	2.991445	0.54041	.	.	ENSG00000159339	ENST00000375448	T	0.25414	1.8	4.85	4.85	0.62838	Protein-arginine deiminase, C-terminal (1);	0.357378	0.28883	N	0.013830	T	0.23649	0.0572	N	0.13235	0.315	0.39431	D	0.967088	B;P	0.47191	0.04;0.891	B;P	0.51550	0.091;0.673	T	0.05920	-1.0856	10	0.41790	T	0.15	-11.7468	11.9518	0.52959	1.0:0.0:0.0:0.0	.	378;378	A8K392;Q9UM07	.;PADI4_HUMAN	V	378	ENSP00000364597:E378V	ENSP00000364597:E378V	E	+	2	0	PADI4	17547108	1.000000	0.71417	0.970000	0.41538	0.890000	0.51754	6.131000	0.71670	2.042000	0.60477	0.423000	0.28283	GAG	.		0.567	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387	
ORC1	4998	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	52849239	52849239	+	Silent	SNP	G	G	A	rs201622141		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:52849239G>A	ENST00000371568.3	-	13	2084	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	ORC1_ENST00000371566.1_Silent_p.L622L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	622	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACAGAAGGTCGAGCTGCCAGG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19901	0.001		0.0	False		,,,				2504	0.0				p.L622L													.	ORC1-206	0			c.C1866T						.						63.0	60.0	61.0					1																	52849239		2203	4300	6503	SO:0001819	synonymous_variant	4998	exon13			AAGGTCGAGCTGC		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1866C>T	1.37:g.52849239G>A		Somatic	196	1		WXS	Illumina HiSeq	Phase_I	152	47	NM_004153	0	0	0	0	0	D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	CCDS566.1																																																																																			G|0.999;A|0.000		0.493	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
RWDD3	25950	ucsc.edu;bcgsc.ca	37	1	95710051	95710051	+	Missense_Mutation	SNP	A	A	T	rs138509057		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:95710051A>T	ENST00000370202.4	+	2	446	c.370A>T	c.(370-372)Agt>Tgt	p.S124C	RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.S124C|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Missense_Mutation_p.S109C|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	124					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S124R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TGGCAGTGGCAGTGAAAAGTG	0.438																																					p.S124C													.	RWDD3-91	1	Substitution - Missense(1)	large_intestine(1)	c.A370T						.						107.0	102.0	104.0					1																	95710051		1947	4130	6077	SO:0001583	missense	25950	exon2			AGTGGCAGTGAAA	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.370A>T	1.37:g.95710051A>T	ENSP00000359221:p.Ser124Cys	Somatic	133	2		WXS	Illumina HiSeq		111	32	NM_001128142	0	0	11	19	8	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	A	3.798	-0.042270	0.07452	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.34859	1.34;1.38;1.35	5.38	-5.53	0.02552	.	1.677590	0.02325	N	0.073392	T	0.09202	0.0227	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.004;0.0	B;B;B;B;B	0.09377	0.001;0.001;0.0;0.004;0.001	T	0.27191	-1.0081	10	0.52906	T	0.07	0.4062	0.9194	0.01311	0.2608:0.2714:0.1228:0.345	.	109;124;124;109;124	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	C	124;109;124	ENSP00000359221:S124C;ENSP00000397398:S109C;ENSP00000263893:S124C	ENSP00000263893:S124C	S	+	1	0	RWDD3	95482639	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.566000	0.05922	-0.478000	0.06823	-0.274000	0.10170	AGT	.		0.438	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	
LPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	99764611	99764611	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:99764611T>C	ENST00000370185.3	+	4	1056	c.559T>C	c.(559-561)Tgc>Cgc	p.C187R	LPPR4_ENST00000457765.1_Missense_Mutation_p.C187R|LPPR4_ENST00000370184.1_Missense_Mutation_p.C29R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		187					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATTTGGATTATGCTCTACAGC	0.363																																					p.C187R		.											.	LPPR4-93	0			c.T559C						.						150.0	133.0	138.0					1																	99764611		2203	4300	6503	SO:0001583	missense	0	exon4			GGATTATGCTCTA																												ENST00000370185.3:c.559T>C	1.37:g.99764611T>C	ENSP00000359204:p.Cys187Arg	Somatic	97	0		WXS	Illumina HiSeq	Phase_I	103	39	NM_001166252	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012287	0.75046	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.52057	0.68;0.68;0.68	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.69636	-0.5092	10	0.72032	D	0.01	-30.56	15.7585	0.78058	0.0:0.0:0.0:1.0	.	187;187	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	187;187;187;29	ENSP00000359204:C187R;ENSP00000394913:C187R;ENSP00000359203:C29R	ENSP00000263178:C187R	C	+	1	0	RP4-788L13.1	99537199	1.000000	0.71417	0.955000	0.39395	0.578000	0.36192	6.235000	0.72332	2.191000	0.70037	0.528000	0.53228	TGC	.		0.363	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
NUP210L	91181	bcgsc.ca	37	1	154033034	154033034	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:154033034T>C	ENST00000368559.3	-	20	2903	c.2832A>G	c.(2830-2832)gaA>gaG	p.E944E	NUP210L_ENST00000271854.3_Silent_p.E944E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	944					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTTTCTGCTTCCATGTAAG	0.433																																					p.E944E													.	NUP210L-77	0			c.A2832G						.						120.0	111.0	114.0					1																	154033034		1909	4135	6044	SO:0001819	synonymous_variant	91181	exon20			TTCTGCTTCCATG	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2832A>G	1.37:g.154033034T>C		Somatic	100	0		WXS	Illumina HiSeq	Phase_1	64	14	NM_001159484	0	0	0	0	0	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	CCDS41399.1																																																																																			.		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
KCNN3	3782	hgsc.bcm.edu	37	1	154842253	154842253	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:154842253G>T	ENST00000271915.4	-	1	503	c.188C>A	c.(187-189)cCt>cAt	p.P63H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	63	Gln-rich.|Pro-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	aagctgcggaggctgaggctg	0.697																																					p.P63H		.											.	KCNN3-91	0			c.C188A						.						6.0	4.0	5.0					1																	154842253		1984	3925	5909	SO:0001583	missense	3782	exon1			TGCGGAGGCTGAG	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.188C>A	1.37:g.154842253G>T	ENSP00000271915:p.Pro63His	Somatic	81	0		WXS	Illumina HiSeq	Phase_I	62	15	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.552427	0.27739	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.56275	0.47	5.07	3.18	0.36537	.	1.727610	0.03258	N	0.182822	T	0.18551	0.0445	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.11372	-1.0590	8	0.33141	T	0.24	-4.1487	6.4327	0.21807	0.0918:0.0:0.7284:0.1798	.	.	.	.	H	63;158	ENSP00000271915:P63H	ENSP00000271915:P63H	P	-	2	0	KCNN3	153108877	0.863000	0.29885	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	0.823000	0.34589	0.563000	0.77884	CCT	.		0.697	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
THBS3	7059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155172114	155172114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:155172114G>A	ENST00000368378.3	-	9	1056	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	THBS3_ENST00000457183.2_Nonsense_Mutation_p.R226*|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	346	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGTACCCTCGAGGACAGGCC	0.602																																					p.R346X		.											.	THBS3-222	0			c.C1036T						.						96.0	90.0	92.0					1																	155172114		2203	4300	6503	SO:0001587	stop_gained	7059	exon9			ACCCTCGAGGACA	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1036C>T	1.37:g.155172114G>A	ENSP00000357362:p.Arg346*	Somatic	193	0		WXS	Illumina HiSeq	Phase_I	151	41	NM_007112	0	0	4	5	1	B1AVR8|B4DQ20|Q8WV34	Nonsense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316567	0.95655	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	.	.	.	5.44	5.44	0.79542	.	0.674441	0.14773	N	0.299266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	3.2614	16.8112	0.85720	0.0:0.0:1.0:0.0	.	.	.	.	X	346;226;196	.	ENSP00000357362:R346X	R	-	1	2	THBS3	153438738	0.461000	0.25783	0.082000	0.20525	0.937000	0.57800	3.403000	0.52615	2.837000	0.97791	0.655000	0.94253	CGA	.		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
NIT1	4817	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	161089159	161089159	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:161089159G>A	ENST00000368009.2	+	3	410	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PFDN2_ENST00000368010.3_5'Flank|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.E97K|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368008.1_Missense_Mutation_p.E112K|NIT1_ENST00000392190.5_Missense_Mutation_p.E76K|NIT1_ENST00000496861.1_3'UTR	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	112	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACTTTTGGAAGAATACACCCA	0.532											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E112K													.	NIT1-90	0			c.G334A						.						49.0	51.0	50.0					1																	161089159		2203	4300	6503	SO:0001583	missense	4817	exon3			TTGGAAGAATACA	AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.334G>A	1.37:g.161089159G>A	ENSP00000356988:p.Glu112Lys	Somatic	101	3	1814	WXS	Illumina HiSeq	Phase_I	64	20	NM_001185092	0	0	11	17	6	B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	ENST00000368009.2	37	CCDS1218.1	.	.	.	.	.	.	.	.	.	.	G	8.049	0.765654	0.15983	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000368008;ENST00000392190	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.11	1.87	0.25490	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.588133	0.17579	N	0.169205	T	0.48732	0.1516	N	0.11845	0.185	0.20196	N	0.999928	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12156	0.004;0.007;0.004	T	0.47381	-0.9122	10	0.05833	T	0.94	-0.6996	8.6096	0.33795	0.0961:0.5513:0.3526:0.0	.	97;112;112	Q86X76-4;B1AQP4;Q86X76	.;.;NIT1_HUMAN	K	112;97;112;76	ENSP00000356988:E112K;ENSP00000356986:E97K;ENSP00000356987:E112K;ENSP00000376028:E76K	ENSP00000356986:E97K	E	+	1	0	NIT1	159355783	0.124000	0.22315	0.998000	0.56505	0.944000	0.59088	0.460000	0.21924	0.629000	0.30376	0.655000	0.94253	GAA	.		0.532	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1		
PAPPA2	60676	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	176525851	176525851	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:176525851G>A	ENST00000367662.3	+	2	1557	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PAPPA2_ENST00000367661.3_Silent_p.G131G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	131					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGGGTAGGGGATAGTCCTA	0.537																																					p.G131G		.											.	PAPPA2-548	0			c.G393A						.						114.0	115.0	114.0					1																	176525851		2073	4228	6301	SO:0001819	synonymous_variant	60676	exon2			GGTAGGGGATAGT	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.393G>A	1.37:g.176525851G>A		Somatic	148	0		WXS	Illumina HiSeq	Phase_I	152	12	NM_021936	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																			.		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
FMN2	56776	hgsc.bcm.edu	37	1	240371469	240371469	+	Silent	SNP	C	C	T	rs199920451		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:240371469C>T	ENST00000319653.9	+	5	3587	c.3357C>T	c.(3355-3357)ccC>ccT	p.P1119P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1119	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1262P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.716																																					p.P1119P		.											.	FMN2-145	1	Substitution - coding silent(1)	prostate(1)	c.C3357T						.						8.0	10.0	9.0					1																	240371469		2095	4131	6226	SO:0001819	synonymous_variant	56776	exon5			CATACCCCCTCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3357C>T	1.37:g.240371469C>T		Somatic	38	0		WXS	Illumina HiSeq	Phase_I	26	6	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			C|0.999;T|0.001		0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
AHCTF1	25909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:247053281C>T	ENST00000391829.2	-	17	2254	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E746K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E720K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	711	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E711Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATAAACGCTCAAACTTCTGT	0.338																																					p.E720K	Colon(145;197 1800 4745 15099 26333)	.											.	AHCTF1-97	1	Substitution - Missense(1)	urinary_tract(1)	c.G2158A						.						114.0	120.0	118.0					1																	247053281		2203	4300	6503	SO:0001583	missense	25909	exon17			AACGCTCAAACTT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2131G>A	1.37:g.247053281C>T	ENSP00000375705:p.Glu711Lys	Somatic	60	0		WXS	Illumina HiSeq	Phase_I	47	13	NM_015446	0	0	0	0	0	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	C	10.35	1.327003	0.24080	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33438	1.41;1.41;1.41	5.61	3.62	0.41486	.	0.132552	0.52532	D	0.000063	T	0.33323	0.0859	M	0.63428	1.95	0.40661	D	0.982126	P;P	0.48503	0.911;0.605	B;B	0.43867	0.434;0.121	T	0.21211	-1.0252	10	0.34782	T	0.22	-9.9643	12.8931	0.58082	0.0:0.8042:0.1258:0.07	.	746;711	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	K	746;720;711	ENSP00000355464:E746K;ENSP00000355465:E720K;ENSP00000375705:E711K	ENSP00000355465:E720K	E	-	1	0	AHCTF1	245119904	1.000000	0.71417	0.890000	0.34922	0.002000	0.02628	3.403000	0.52615	1.379000	0.46325	0.579000	0.79373	GAG	.		0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
KIN	22944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	7811178	7811178	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:7811178C>T	ENST00000379562.4	-	8	846		c.e8+1		KIN_ENST00000463666.1_5'Flank|KIN_ENST00000535925.1_Splice_Site|KIN_ENST00000543003.1_Splice_Site	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATAAACTGTACCTCCATGATT	0.343																																					.		.											.	KIN-230	0			c.798+1G>A						.						99.0	99.0	99.0					10																	7811178		2203	4300	6503	SO:0001630	splice_region_variant	22944	exon9			ACTGTACCTCCAT	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.798+1G>A	10.37:g.7811178C>T		Somatic	21	0		WXS	Illumina HiSeq	Phase_I	23	8	NM_012311	0	0	0	0	0		Splice_Site	SNP	ENST00000379562.4	37	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955761	0.73902	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.75	0.85483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIN	7851184	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	5.846000	0.69444	2.363000	0.80096	0.650000	0.86243	.	.		0.343	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Intron
KIAA1217	56243	broad.mit.edu;bcgsc.ca	37	10	24834831	24834831	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:24834831G>A	ENST00000376454.3	+	21	5440	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T	KIAA1217_ENST00000376462.1_Missense_Mutation_p.A1125T|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A1235T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A1210T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1804	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAGATTCCAGCCCTTTCTCC	0.493																																					p.A1804T													.	KIAA1217-98	0			c.G5410A						.						147.0	146.0	147.0					10																	24834831		2203	4300	6503	SO:0001583	missense	56243	exon21			ATTCCAGCCCTTT	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5410G>A	10.37:g.24834831G>A	ENSP00000365637:p.Ala1804Thr	Somatic	179	0		WXS	Illumina HiSeq	Phase_I	161	6	NM_019590	0	0	15	15	0	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675129	0.88445	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.53640	0.89;0.61;1.05;0.71	5.67	5.67	0.87782	.	0.060496	0.64402	D	0.000004	T	0.66655	0.2811	M	0.63843	1.955	0.33399	D	0.57704	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.77004	0.952;0.989;0.984;0.952	T	0.67573	-0.5636	10	0.24483	T	0.36	.	19.7685	0.96352	0.0:0.0:1.0:0.0	.	1210;1235;1804;1205	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	T	1125;1210;1804;1235;1393	ENSP00000365645:A1125T;ENSP00000392625:A1210T;ENSP00000365637:A1804T;ENSP00000365635:A1235T	ENSP00000365635:A1235T	A	+	1	0	KIAA1217	24874837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.503000	0.81632	2.679000	0.91253	0.650000	0.86243	GCC	.		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
PLCE1	51196	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	96005839	96005839	+	Missense_Mutation	SNP	A	A	G	rs200483837	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:96005839A>G	ENST00000371380.3	+	7	2792	c.2557A>G	c.(2557-2559)Atc>Gtc	p.I853V	PLCE1_ENST00000371375.1_Missense_Mutation_p.I545V|PLCE1_ENST00000260766.3_Missense_Mutation_p.I853V|PLCE1_ENST00000371385.3_Missense_Mutation_p.I545V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	853					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGTGCTGTCCATCCAAGCCGA	0.572																																					p.I853V													.	PLCE1-229	0			c.A2557G						.						64.0	70.0	68.0					10																	96005839		2152	4256	6408	SO:0001583	missense	51196	exon8			CTGTCCATCCAAG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2557A>G	10.37:g.96005839A>G	ENSP00000360431:p.Ile853Val	Somatic	214	2		WXS	Illumina HiSeq	Phase_I	219	21	NM_016341	0	0	0	0	0	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.254909	0.39896	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.04	3.71	0.42584	Ras guanine nucleotide exchange factor, domain (1);	0.297710	0.33712	N	0.004639	T	0.21022	0.0506	N	0.19112	0.55	0.24609	N	0.99373	B;B;B	0.27380	0.177;0.008;0.036	B;B;B	0.24394	0.053;0.023;0.03	T	0.12630	-1.0540	10	0.39692	T	0.17	.	7.7436	0.28856	0.8078:0.0:0.0667:0.1255	.	853;545;853	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	853;853;545;545	ENSP00000260766:I853V;ENSP00000360431:I853V;ENSP00000360438:I545V;ENSP00000360426:I545V	ENSP00000260766:I853V	I	+	1	0	PLCE1	95995829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.444000	0.60001	1.085000	0.41206	0.477000	0.44152	ATC	A|0.999;T|0.000		0.572	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
HPS1	3257	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	100177417	100177417	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:100177417G>A	ENST00000325103.6	-	20	2240	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A	PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000361490.4_Silent_p.A669A|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	669					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACAGGTGCAGGGCCAGCAGCT	0.662									Hermansky-Pudlak syndrome																												p.A669A													.	HPS1-91	0			c.C2007T						.						69.0	62.0	65.0					10																	100177417		2203	4300	6503	SO:0001819	synonymous_variant	3257	exon20	Familial Cancer Database	HPS, HPS1-8	GTGCAGGGCCAGC	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.2007C>T	10.37:g.100177417G>A		Somatic	260	1		WXS	Illumina HiSeq	Phase_I	217	61	NM_000195	0	0	50	76	26	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																			.		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
ABCC2	1244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	101559080	101559080	+	Silent	SNP	G	G	A	rs181542662		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:101559080G>A	ENST00000370449.4	+	8	1097	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	328	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CATTCCTACTGAAGCTAGTGA	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18381	0.0		0.0	False		,,,				2504	0.0				p.L328L		.											.	ABCC2-91	0			c.G984A						.						292.0	300.0	297.0					10																	101559080		2203	4300	6503	SO:0001819	synonymous_variant	1244	exon8			CCTACTGAAGCTA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.984G>A	10.37:g.101559080G>A		Somatic	60	0		WXS	Illumina HiSeq	Phase_I	52	10	NM_000392	0	0	0	0	0	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																			G|0.999;A|0.000		0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
AP2A2	161	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	985477	985477	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:985477T>C	ENST00000448903.2	+	8	998	c.857T>C	c.(856-858)aTc>aCc	p.I286T	AP2A2_ENST00000332231.5_Missense_Mutation_p.I287T|AP2A2_ENST00000534328.1_Missense_Mutation_p.I286T	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	286					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGAGACCATCCTGAACAAA	0.592																																					p.I287T													.	AP2A2-90	0			c.T860C						.						102.0	108.0	106.0					11																	985477		2101	4232	6333	SO:0001583	missense	161	exon8			AGACCATCCTGAA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.857T>C	11.37:g.985477T>C	ENSP00000413234:p.Ile286Thr	Somatic	148	1		WXS	Illumina HiSeq	Phase_I	148	54	NM_001242837	0	0	22	38	16	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425714	0.83667	.	.	ENSG00000183020	ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000329626	T;T;T	0.31510	1.49;1.49;1.49	3.89	3.89	0.44902	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.062577	0.64402	D	0.000008	T	0.53012	0.1770	M	0.73753	2.245	0.80722	D	1	D;D	0.64830	0.991;0.994	P;D	0.69142	0.874;0.962	T	0.59096	-0.7518	10	0.72032	D	0.01	-38.971	13.0543	0.58971	0.0:0.0:0.0:1.0	.	287;286	O94973-2;O94973	.;AP2A2_HUMAN	T	286;286;286;287;287;159	ENSP00000436059:I286T;ENSP00000413234:I286T;ENSP00000327694:I287T	ENSP00000328024:I159T	I	+	2	0	AP2A2	975477	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.863000	0.87023	1.552000	0.49463	0.533000	0.62120	ATC	.		0.592	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
MUC2	4583	hgsc.bcm.edu;broad.mit.edu	37	11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.637																																					p.T1704I		.											.	MUC2-90	0			c.C5111T						.						107.0	156.0	138.0					11																	1093292		1878	3453	5331	SO:0001583	missense	4583	exon30			CCACCACCACTAC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5111C>T	11.37:g.1093292C>T	ENSP00000415183:p.Thr1704Ile	Somatic	97	0		WXS	Illumina HiSeq	Phase_I	107	7	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MPEG1	219972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	58978564	58978564	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:58978564C>T	ENST00000361050.3	-	1	1860	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	592						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGGTGGGAGCCTGGCAGGGGG	0.582																																					p.R592K		.											.	MPEG1-70	0			c.G1775A						.						87.0	97.0	93.0					11																	58978564		1945	4123	6068	SO:0001583	missense	219972	exon1			GGGAGCCTGGCAG	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1775G>A	11.37:g.58978564C>T	ENSP00000354335:p.Arg592Lys	Somatic	96	0		WXS	Illumina HiSeq	Phase_I	104	39	NM_001039396	0	0	6	6	0	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648686	0.47258	.	.	ENSG00000197629	ENST00000361050	T	0.23147	1.92	5.69	5.69	0.88448	.	0.109255	0.64402	D	0.000015	T	0.42154	0.1190	L	0.61387	1.9	0.34323	D	0.686779	D	0.60575	0.988	P	0.54759	0.76	T	0.52601	-0.8554	10	0.44086	T	0.13	-27.9243	16.7224	0.85413	0.0:1.0:0.0:0.0	.	592	Q2M385	MPEG1_HUMAN	K	592	ENSP00000354335:R592K	ENSP00000354335:R592K	R	-	2	0	MPEG1	58735140	0.678000	0.27586	1.000000	0.80357	0.942000	0.58702	0.292000	0.19011	2.682000	0.91365	0.655000	0.94253	AGG	.		0.582	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396	
PYGM	5837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64517951	64517951	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:64517951T>A	ENST00000164139.3	-	17	2472	c.2074A>T	c.(2074-2076)Acc>Tcc	p.T692S	PYGM_ENST00000377432.3_Missense_Mutation_p.T604S|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	692					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGTCCATGGTGCCAATGGTC	0.567																																					p.T692S		.											.	PYGM-92	0			c.A2074T						.						167.0	151.0	157.0					11																	64517951		2201	4297	6498	SO:0001583	missense	5837	exon17			CCATGGTGCCAAT		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2074A>T	11.37:g.64517951T>A	ENSP00000164139:p.Thr692Ser	Somatic	156	0		WXS	Illumina HiSeq	Phase_I	114	38	NM_005609	0	0	0	0	0	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903517	0.92035	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.95342	-3.68;-3.68	4.91	4.91	0.64330	.	0.000000	0.52532	D	0.000074	D	0.96895	0.8986	M	0.93854	3.465	0.80722	D	1	P;P	0.48407	0.91;0.91	P;P	0.52386	0.697;0.697	D	0.97609	1.0128	10	0.87932	D	0	-39.6172	12.5412	0.56172	0.0:0.0:0.0:1.0	.	604;692	A6NDY6;P11217	.;PYGM_HUMAN	S	604;692;673	ENSP00000366650:T604S;ENSP00000164139:T692S	ENSP00000164139:T692S	T	-	1	0	PYGM	64274527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.832000	0.86757	2.073000	0.62155	0.454000	0.30748	ACC	.		0.567	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	
COA4	51287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	73584202	73584202	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:73584202C>A	ENST00000355693.4	-	2	469	c.222G>T	c.(220-222)gaG>gaT	p.E74D	COA4_ENST00000537289.1_Missense_Mutation_p.E74D|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000541455.1_Missense_Mutation_p.E83D|COA4_ENST00000545127.1_Missense_Mutation_p.E74D	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	74						mitochondrion (GO:0005739)											TCTGCAGCTCCTCTTGCCGCC	0.612																																					p.E74D		.											.	.	0			c.G222T						.						108.0	81.0	90.0					11																	73584202		2200	4293	6493	SO:0001583	missense	51287	exon2			CAGCTCCTCTTGC	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.222G>T	11.37:g.73584202C>A	ENSP00000347919:p.Glu74Asp	Somatic	85	0		WXS	Illumina HiSeq	Phase_I	77	9	NM_016565	0	0	80	107	27	B2RAA0|Q69YU4	Missense_Mutation	SNP	ENST00000355693.4	37	CCDS8225.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273202	0.59649	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	.	.	.	6.02	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	.	.	.	0.33160	D	0.546821	P	0.39665	0.682	B	0.34038	0.174	T	0.50890	-0.8774	8	0.59425	D	0.04	-24.9482	8.1718	0.31260	0.0:0.6617:0.0:0.3383	.	74	Q9NYJ1	CHCH8_HUMAN	D	74;74;83;74	.	ENSP00000347919:E74D	E	-	3	2	CHCHD8	73261850	0.857000	0.29778	0.996000	0.52242	0.388000	0.30384	0.299000	0.19138	0.879000	0.35944	0.655000	0.94253	GAG	.		0.612	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565	
PRCP	5547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82560214	82560214	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:82560214T>C	ENST00000313010.3	-	6	992	c.798A>G	c.(796-798)ccA>ccG	p.P266P	PRCP_ENST00000393399.2_Silent_p.P287P|PRCP_ENST00000535099.1_Silent_p.P161P	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	266	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAGAAGTTAATGGGCTGCATA	0.443																																					p.P287P		.											.	PRCP-91	0			c.A861G						.						115.0	108.0	110.0					11																	82560214		2203	4300	6503	SO:0001819	synonymous_variant	5547	exon7			AGTTAATGGGCTG	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.798A>G	11.37:g.82560214T>C		Somatic	82	0		WXS	Illumina HiSeq	Phase_I	88	18	NM_199418	0	0	54	69	15	A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	37	CCDS8262.1																																																																																			.		0.443	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	
DDX10	1662	hgsc.bcm.edu	37	11	108559718	108559718	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:108559718A>G	ENST00000322536.3	+	7	1033	c.904A>G	c.(904-906)Agt>Ggt	p.S302G	DDX10_ENST00000526794.1_Missense_Mutation_p.S302G	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	302	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCAAAAAATAAGTGTGCTGTA	0.373			T	NUP98	AML*																																p.S302G		.		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	DDX10-1145	0			c.A904G						.						194.0	193.0	193.0					11																	108559718		2201	4298	6499	SO:0001583	missense	1662	exon7			AAAATAAGTGTGC	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.904A>G	11.37:g.108559718A>G	ENSP00000314348:p.Ser302Gly	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	79	4	NM_004398	0	0	9	9	0	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	8.380	0.837213	0.16891	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.04809	3.55;3.55	5.61	5.61	0.85477	Helicase, C-terminal (1);	0.171976	0.64402	D	0.000008	T	0.04092	0.0114	N	0.16130	0.375	0.30844	N	0.735378	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.20505	-1.0273	10	0.27082	T	0.32	-11.3262	15.8096	0.78547	1.0:0.0:0.0:0.0	.	302;302	Q13206;E9PIF2	DDX10_HUMAN;.	G	302;208;302	ENSP00000314348:S302G;ENSP00000432032:S302G	ENSP00000314348:S302G	S	+	1	0	DDX10	108064928	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.272000	0.72575	2.132000	0.65825	0.533000	0.62120	AGT	.		0.373	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
TRAPPC4	51399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118895661	118895661	+	IGR	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:118895661T>C	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000545985.1_Missense_Mutation_p.I417V|SLC37A4_ENST00000330775.7_Missense_Mutation_p.I438V|SLC37A4_ENST00000357590.5_Missense_Mutation_p.I439V|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.C226R|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.I344V	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTGGTGCGGATGTTTCGTAGG	0.597																																					p.I439V		.											.	SLC37A4-67	0			c.A1315G						.						43.0	51.0	48.0					11																	118895661		2020	4175	6195	SO:0001628	intergenic_variant	2542	exon12			TGCGGATGTTTCG	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895661T>C		Somatic	180	0		WXS	Illumina HiSeq	Phase_I	125	41	NM_001164278	0	0	72	147	75	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560807	0.45590	.	.	ENSG00000196655	ENST00000533058	T	0.50001	0.76	5.27	5.27	0.74061	.	.	.	.	.	T	0.52370	0.1730	L	0.36672	1.1	0.50171	D	0.999855	.	.	.	.	.	.	T	0.56147	-0.8027	7	0.87932	D	0	-22.4876	15.3661	0.74523	0.0:0.0:0.0:1.0	.	.	.	.	R	226	ENSP00000432920:C226R	ENSP00000432920:C226R	C	+	1	0	TRAPPC4	118400871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.309000	0.78937	2.226000	0.72624	0.459000	0.35465	TGT	.		0.597	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	
NCAPD2	9918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6637492	6637492	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:6637492T>C	ENST00000315579.5	+	25	4096	c.3297T>C	c.(3295-3297)gcT>gcC	p.A1099A	NCAPD2_ENST00000545962.1_Silent_p.A1054A	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1099					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATCTGTATGCTCGGTAAGAGA	0.577																																					p.A1099A		.											.	NCAPD2-660	0			c.T3297C						.						139.0	143.0	142.0					12																	6637492		2203	4300	6503	SO:0001819	synonymous_variant	9918	exon25			GTATGCTCGGTAA	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3297T>C	12.37:g.6637492T>C		Somatic	146	0		WXS	Illumina HiSeq	Phase_I	134	31	NM_014865	0	0	0	0	0	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																			.		0.577	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
LARP4	113251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	50847398	50847398	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:50847398T>C	ENST00000398473.2	+	9	1072	c.960T>C	c.(958-960)taT>taC	p.Y320Y	LARP4_ENST00000347328.5_Intron|LARP4_ENST00000518561.1_Silent_p.Y250Y|LARP4_ENST00000429001.3_Silent_p.Y326Y|LARP4_ENST00000293618.8_Silent_p.Y320Y|LARP4_ENST00000522085.1_Silent_p.Y320Y|LARP4_ENST00000518444.1_Silent_p.Y319Y	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	320					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTCGGTCTATAGTATTGTGC	0.373																																					p.Y320Y		.											.	LARP4-91	0			c.T960C						.						208.0	181.0	190.0					12																	50847398		1906	4126	6032	SO:0001819	synonymous_variant	113251	exon9			GGTCTATAGTATT	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.960T>C	12.37:g.50847398T>C		Somatic	121	0		WXS	Illumina HiSeq	Phase_I	178	44	NM_001170808	0	0	1	2	1	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	CCDS41782.1																																																																																			.		0.373	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	
NPFF	8620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53900627	53900627	+	Missense_Mutation	SNP	C	C	T	rs199569723		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:53900627C>T	ENST00000267017.3	-	3	438	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	NPFF_ENST00000609999.1_Missense_Mutation_p.R95Q|RP11-793H13.10_ENST00000591834.1_3'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	92					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTCTCCAGCCCGGGGACTCAG	0.552																																					p.R92Q		.											.	NPFF-90	0			c.G275A						.						111.0	114.0	113.0					12																	53900627		2203	4300	6503	SO:0001583	missense	8620	exon3			CCAGCCCGGGGAC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.275G>A	12.37:g.53900627C>T	ENSP00000267017:p.Arg92Gln	Somatic	58	0		WXS	Illumina HiSeq	Phase_I	76	10	NM_003717	0	0	7	7	0	Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306772	0.23821	.	.	ENSG00000139574	ENST00000267017	T	0.54279	0.58	4.52	-1.46	0.08800	.	0.173981	0.36555	N	0.002528	T	0.36441	0.0967	L	0.49126	1.545	0.09310	N	1	B	0.23490	0.086	B	0.17722	0.019	T	0.13737	-1.0498	10	0.38643	T	0.18	-7.5784	3.979	0.09487	0.3493:0.371:0.0:0.2797	.	92	O15130	NPFF_HUMAN	Q	92	ENSP00000267017:R92Q	ENSP00000267017:R92Q	R	-	2	0	NPFF	52186894	0.048000	0.20356	0.008000	0.14137	0.980000	0.70556	0.139000	0.16036	-0.071000	0.12886	0.491000	0.48974	CGG	.		0.552	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717	
CEP290	80184	broad.mit.edu;bcgsc.ca	37	12	88474150	88474150	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:88474150C>T	ENST00000552810.1	-	38	5378	c.5035G>A	c.(5035-5037)Gaa>Aaa	p.E1679K	CEP290_ENST00000397838.3_Missense_Mutation_p.E739K|CEP290_ENST00000547691.2_Missense_Mutation_p.E739K|CEP290_ENST00000309041.7_Missense_Mutation_p.E1681K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1679					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTTCACTTCATCTTCATGG	0.348																																					p.E1679K													.	CEP290-96	0			c.G5035A						.						125.0	111.0	115.0					12																	88474150		1818	4077	5895	SO:0001583	missense	80184	exon38			TCACTTCATCTTC	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5035G>A	12.37:g.88474150C>T	ENSP00000448012:p.Glu1679Lys	Somatic	52	1		WXS	Illumina HiSeq	Phase_I	56	24	NM_025114	0	0	2	2	0	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241191	0.39598	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.53	4.53	0.55603	.	0.238715	0.41938	D	0.000800	D	0.88058	0.6335	L	0.29908	0.895	0.44635	D	0.997619	B	0.34399	0.452	B	0.36567	0.228	D	0.86549	0.1833	10	0.30078	T	0.28	.	17.6111	0.88053	0.0:1.0:0.0:0.0	.	1679	O15078	CE290_HUMAN	K	739;1679;1681;739	ENSP00000446905:E739K;ENSP00000448012:E1679K;ENSP00000308021:E1681K;ENSP00000380938:E739K	ENSP00000308021:E1681K	E	-	1	0	CEP290	86998281	1.000000	0.71417	0.921000	0.36526	0.187000	0.23431	5.327000	0.65881	2.226000	0.72624	0.460000	0.39030	GAA	.		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	88514780	88514780	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:88514780A>C	ENST00000552810.1	-	14	1696	c.1353T>G	c.(1351-1353)taT>taG	p.Y451*	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.Y451*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	451					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATACCGATTCATAATCTTTTA	0.363																																					p.Y451X		.											.	CEP290-96	0			c.T1353G						.						89.0	86.0	87.0					12																	88514780		1837	4077	5914	SO:0001587	stop_gained	80184	exon14			CGATTCATAATCT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1353T>G	12.37:g.88514780A>C	ENSP00000448012:p.Tyr451*	Somatic	12	0		WXS	Illumina HiSeq	Phase_I	18	10	NM_025114	0	0	0	0	0	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	A	41	8.542306	0.98857	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	.	.	.	5.61	4.42	0.53409	.	0.147782	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	5.4776	0.16704	0.7324:0.0:0.1371:0.1305	.	.	.	.	X	451;451;451;353	.	ENSP00000308021:Y451X	Y	-	3	2	CEP290	87038911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.199000	0.58426	2.137000	0.66172	0.482000	0.46254	TAT	.		0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
ANKS1B	56899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	99640158	99640158	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:99640158G>A	ENST00000547776.2	-	13	2240	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	ANKS1B_ENST00000550833.1_5'Flank|ANKS1B_ENST00000329257.7_Silent_p.S747S|ANKS1B_ENST00000547010.1_Silent_p.S327S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	747						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTCATTGGAAGGATAGG	0.413																																					p.S747S		.											.	.	0			c.C2241T						.						92.0	87.0	89.0					12																	99640158		1912	4102	6014	SO:0001819	synonymous_variant	56899	exon13			CTCATTGGAAGGA	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2241C>T	12.37:g.99640158G>A		Somatic	198	0		WXS	Illumina HiSeq	Phase_I	231	112	NM_152788	0	0	0	0	0	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	7.433	0.639208	0.14386	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.21	-7.15	0.01521	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45977	-0.9224	4	.	.	.	-6.1946	3.8547	0.08970	0.0906:0.3375:0.3258:0.2461	.	.	.	.	L	19	.	.	P	-	2	0	ANKS1B	98164289	0.194000	0.23325	0.127000	0.21898	0.969000	0.65631	-1.051000	0.03507	-0.833000	0.04245	0.462000	0.41574	CCA	.		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
CCDC64	92558	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	120428098	120428098	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:120428098C>T	ENST00000397558.2	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	142					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGACAAGCTCGAGGTGAGGA	0.657																																					p.L142L													.	CCDC64-92	0			c.C426T						.						8.0	9.0	9.0					12																	120428098		2031	4193	6224	SO:0001819	synonymous_variant	92558	exon1			CAAGCTCGAGGTG	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.426C>T	12.37:g.120428098C>T		Somatic	208	1		WXS	Illumina HiSeq	Phase_I	269	64	NM_207311	0	0	0	0	0	A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	CCDS41845.1																																																																																			.		0.657	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	
GPC6	10082	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	94938687	94938687	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr13:94938687A>C	ENST00000377047.4	+	5	1577	c.962A>C	c.(961-963)gAa>gCa	p.E321A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	321					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AAGATTTCTGAAGCCATTATG	0.423																																					p.E321A													.	GPC6-90	0			c.A962C						.						100.0	91.0	94.0					13																	94938687		2203	4300	6503	SO:0001583	missense	10082	exon5			TTTCTGAAGCCAT	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.962A>C	13.37:g.94938687A>C	ENSP00000366246:p.Glu321Ala	Somatic	105	1		WXS	Illumina HiSeq	Phase_I	91	34	NM_005708	0	0	0	1	1	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684752	0.88639	.	.	ENSG00000183098	ENST00000377047	T	0.58506	0.33	5.64	5.64	0.86602	.	0.063315	0.64402	D	0.000008	T	0.78502	0.4293	M	0.85710	2.77	0.58432	D	0.999997	P;D	0.71674	0.74;0.998	P;D	0.77557	0.641;0.99	T	0.81402	-0.0949	10	0.54805	T	0.06	.	15.8646	0.79055	1.0:0.0:0.0:0.0	.	321;321	B4E2M1;Q9Y625	.;GPC6_HUMAN	A	321	ENSP00000366246:E321A	ENSP00000366246:E321A	E	+	2	0	GPC6	93736688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.950000	0.93019	2.149000	0.67028	0.477000	0.44152	GAA	.		0.423	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	
FAM161B	145483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	74409353	74409353	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr14:74409353A>T	ENST00000534936.1	-	4	1096	c.991T>A	c.(991-993)Tcc>Acc	p.S331T	FAM161B_ENST00000286544.3_Missense_Mutation_p.S394T			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	331										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGATAGGGGAAGAGGCCATC	0.532																																					p.S394T		.											.	FAM161B-91	0			c.T1180A						.						88.0	96.0	94.0					14																	74409353		2203	4300	6503	SO:0001583	missense	145483	exon4			TAGGGGAAGAGGC	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.991T>A	14.37:g.74409353A>T	ENSP00000445326:p.Ser331Thr	Somatic	114	0		WXS	Illumina HiSeq	Phase_I	72	18	NM_152445	0	0	0	5	5	B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	A	16.34	3.096005	0.56075	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.21361	2.01;2.01	5.5	4.34	0.51931	.	0.392302	0.25786	N	0.028306	T	0.38719	0.1051	M	0.79475	2.455	0.29528	N	0.852984	D	0.61697	0.99	P	0.61722	0.893	T	0.35475	-0.9787	10	0.09843	T	0.71	-10.2675	12.0316	0.53401	0.5426:0.4574:0.0:0.0	.	331	Q96MY7	F161B_HUMAN	T	394;331	ENSP00000286544:S394T;ENSP00000445326:S331T	ENSP00000286544:S394T	S	-	1	0	FAM161B	73479106	0.652000	0.27349	1.000000	0.80357	0.874000	0.50279	1.334000	0.33827	1.081000	0.41110	0.533000	0.62120	TCC	.		0.532	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445	
SYNE3	161176	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	95906070	95906070	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr14:95906070C>T	ENST00000334258.5	-	12	2139	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	SYNE3_ENST00000557275.1_Missense_Mutation_p.A709T|SYNE3_ENST00000554873.1_Missense_Mutation_p.A466T	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	709					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CAGCCCTGCGCTTCCACCAGG	0.637																																					p.A709T		.											.	.	0			c.G2125A						.						44.0	47.0	46.0					14																	95906070		2203	4300	6503	SO:0001583	missense	161176	exon12			CCTGCGCTTCCAC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2125G>A	14.37:g.95906070C>T	ENSP00000334308:p.Ala709Thr	Somatic	181	0		WXS	Illumina HiSeq	Phase_I	137	7	NM_152592	0	0	0	0	0	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663059	0.47572	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.52295	0.67;0.67;0.67	5.34	5.34	0.76211	.	0.171047	0.27932	N	0.017272	T	0.46034	0.1372	L	0.50333	1.59	0.80722	D	1	P;P	0.50369	0.919;0.934	P;P	0.48598	0.447;0.583	T	0.26573	-1.0099	10	0.12430	T	0.62	-23.2732	11.6332	0.51187	0.1774:0.8226:0.0:0.0	.	709;709	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	T	709;466;709	ENSP00000334308:A709T;ENSP00000452154:A466T;ENSP00000450562:A709T	ENSP00000334308:A709T	A	-	1	0	C14orf49	94975823	0.218000	0.23608	0.039000	0.18376	0.023000	0.10783	1.454000	0.35178	2.507000	0.84556	0.561000	0.74099	GCG	.		0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
RAB26	25837	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2201715	2201715	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:2201715A>G	ENST00000210187.6	+	4	528	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	RAB26_ENST00000541451.1_Missense_Mutation_p.Q57R	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	123					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						ACAGCTGGTCAGGAGCGGTTC	0.642																																					p.Q123R													.	RAB26-227	0			c.A368G						.						104.0	87.0	93.0					16																	2201715		2197	4300	6497	SO:0001583	missense	25837	exon4			CTGGTCAGGAGCG	AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.368A>G	16.37:g.2201715A>G	ENSP00000210187:p.Gln123Arg	Somatic	280	1		WXS	Illumina HiSeq	Phase_I	347	93	NM_014353	0	0	0	0	0	B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279466	0.59758	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	D;D	0.83673	-1.75;-1.75	3.93	3.93	0.45458	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	D	0.92616	0.7654	H	0.95539	3.685	0.80722	D	1	P	0.50943	0.94	D	0.64410	0.925	D	0.94013	0.7286	10	0.87932	D	0	.	11.7693	0.51949	1.0:0.0:0.0:0.0	.	123	Q9ULW5	RAB26_HUMAN	R	57;123	ENSP00000441580:Q57R;ENSP00000210187:Q123R	ENSP00000210187:Q123R	Q	+	2	0	RAB26	2141716	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	8.398000	0.90195	1.657000	0.50732	0.254000	0.18369	CAG	.		0.642	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2		
TBC1D24	57465	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2550436	2550436	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:2550436G>T	ENST00000293970.5	+	7	1603	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	TBC1D24_ENST00000567020.1_Silent_p.L484L|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Silent_p.L490L	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	490	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						ACTTCAACCTGCCCTCCAAGA	0.692																																					p.L490L		.											.	TBC1D24-90	0			c.G1470T						.						12.0	17.0	15.0					16																	2550436		2057	4196	6253	SO:0001819	synonymous_variant	57465	exon7			CAACCTGCCCTCC	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1470G>T	16.37:g.2550436G>T		Somatic	314	0		WXS	Illumina HiSeq	Phase_I	269	58	NM_001199107	0	0	0	2	2	A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	CCDS55980.1																																																																																			.		0.692	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	
CHD9	80205	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	53288491	53288491	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:53288491A>G	ENST00000398510.3	+	17	4090	c.4003A>G	c.(4003-4005)Agt>Ggt	p.S1335G	CHD9_ENST00000566029.1_Missense_Mutation_p.S1335G|CHD9_ENST00000564845.1_Missense_Mutation_p.S1335G|CHD9_ENST00000447540.1_Missense_Mutation_p.S1335G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1335	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGAGCATGAGTGGAAGAGA	0.378																																					p.S1335G													.	CHD9-272	0			c.A4003G						.						258.0	254.0	255.0					16																	53288491		1881	4105	5986	SO:0001583	missense	80205	exon18			AGCATGAGTGGAA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4003A>G	16.37:g.53288491A>G	ENSP00000381522:p.Ser1335Gly	Somatic	145	1		WXS	Illumina HiSeq	Phase_I	148	41	NM_025134	0	0	0	0	0	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.107119	0.77096	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.86865	-2.1;-2.18	5.39	5.39	0.77823	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.90535	0.7034	L	0.42581	1.335	0.80722	D	1	B;P;P;D	0.56035	0.417;0.923;0.956;0.974	B;P;D;D	0.70487	0.206;0.79;0.931;0.969	D	0.90634	0.4569	10	0.48119	T	0.1	-16.5693	15.4021	0.74849	1.0:0.0:0.0:0.0	.	861;1335;1335;1335	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	G	1335;1335;861	ENSP00000396345:S1335G;ENSP00000381522:S1335G	ENSP00000219084:S861G	S	+	1	0	CHD9	51845992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.049000	0.60858	0.477000	0.44152	AGT	.		0.378	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
PKD1L3	342372	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	72016037	72016037	+	RNA	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:72016037A>G	ENST00000534738.1	-	0	1063							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						AAAGGGGCAGACAGTTGGAGG	0.473																																					.													.	PKD1L3-68	0			.						.						124.0	115.0	117.0					16																	72016037		692	1591	2283			342372	.			GGGCAGACAGTTG	AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72016037A>G		Somatic	142	0		WXS	Illumina HiSeq	Phase_I	169	40	.	0	0	0	0	0		Missense_Mutation	SNP	ENST00000534738.1	37																																																																																				.		0.473	PKD1L3-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000387876.1	NM_181536	
SDR42E1	93517	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	82033252	82033252	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:82033252G>T	ENST00000328945.5	-	3	773	c.646C>A	c.(646-648)Ccc>Acc	p.P216T	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	216					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGGCTCCTGGGGTCCCCGTAG	0.547																																					p.P216T													.	SDR42E1-90	0			c.C646A						.						108.0	110.0	109.0					16																	82033252		1902	4115	6017	SO:0001583	missense	93517	exon3			TCCTGGGGTCCCC	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.646C>A	16.37:g.82033252G>T	ENSP00000332407:p.Pro216Thr	Somatic	125	1		WXS	Illumina HiSeq	Phase_I	142	41	NM_145168	0	0	0	2	2	B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870740	0.72065	.	.	ENSG00000184860	ENST00000328945	D	0.88664	-2.41	5.58	4.6	0.57074	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.153104	0.64402	N	0.000011	D	0.91922	0.7442	M	0.75447	2.3	0.54753	D	0.999988	P	0.51240	0.943	P	0.57204	0.815	D	0.90190	0.4249	10	0.27082	T	0.32	-14.8805	13.0466	0.58931	0.0:0.0:0.8391:0.1609	.	216	Q8WUS8	D42E1_HUMAN	T	216	ENSP00000332407:P216T	ENSP00000332407:P216T	P	-	1	0	SDR42E1	80590753	1.000000	0.71417	0.742000	0.31022	0.950000	0.60333	6.302000	0.72788	1.301000	0.44836	0.655000	0.94253	CCC	.		0.547	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168	
FBXW10	10517	bcgsc.ca	37	17	18653384	18653384	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:18653384G>T	ENST00000395665.4	+	4	1154	c.933G>T	c.(931-933)atG>atT	p.M311I	FBXW10_ENST00000301938.4_Missense_Mutation_p.M311I|FBXW10_ENST00000308799.4_Missense_Mutation_p.M340I|FBXW10_ENST00000395667.1_Missense_Mutation_p.M311I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	311	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGGCCGCCATGGCTCAACAGG	0.517																																					p.M311I													.	FBXW10-91	0			c.G933T						.						16.0	18.0	17.0					17																	18653384		2040	4094	6134	SO:0001583	missense	10517	exon4			CGCCATGGCTCAA	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.933G>T	17.37:g.18653384G>T	ENSP00000379025:p.Met311Ile	Somatic	511	1		WXS	Illumina HiSeq	Phase_1	682	84	NM_001267585	0	0	0	0	0	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171623	0.06421	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27256	2.15;1.68;2.15;2.15	2.49	0.244	0.15507	F-box domain, Skp2-like (1);	0.296938	0.17883	U	0.158818	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.19706	0.038;0.015;0.022;0.017	B;B;B;B	0.13407	0.009;0.009;0.004;0.009	T	0.16335	-1.0406	10	0.51188	T	0.08	.	3.6229	0.08103	0.1637:0.2623:0.574:0.0	.	311;340;311;311	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	I	311;340;311;311	ENSP00000379026:M311I;ENSP00000310382:M340I;ENSP00000306937:M311I;ENSP00000379025:M311I	ENSP00000306937:M311I	M	+	3	0	FBXW10	18594109	0.159000	0.22864	0.083000	0.20561	0.238000	0.25445	0.459000	0.21908	-0.034000	0.13713	0.405000	0.27470	ATG	.		0.517	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
TCAP	8557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	37821723	37821723	+	Splice_Site	SNP	G	G	A	rs113187448		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:37821723G>A	ENST00000309889.2	+	1	1283		c.e1+1		PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank|TCAP_ENST00000578283.1_Splice_Site|PNMT_ENST00000581428.1_5'Flank			O15273	TELT_HUMAN	titin-cap						adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGAGGAGGGGTGAGTGTGGG	0.627																																					.		.											.	TCAP-90	0			c.110+1G>A						.						67.0	64.0	65.0					17																	37821723		2203	4300	6503	SO:0001630	splice_region_variant	8557	exon1			GGAGGGGTGAGTG	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.110+1G>A	17.37:g.37821723G>A		Somatic	87	0		WXS	Illumina HiSeq	Phase_I	134	32	NM_003673	0	0	0	2	2	Q96L27	Splice_Site	SNP	ENST00000309889.2	37	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194985	0.38806	.	.	ENSG00000173991	ENST00000309889	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5082	0.95130	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCAP	35075249	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	7.443000	0.80521	2.710000	0.92621	0.563000	0.77884	.	.		0.627	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673	Intron
KRT10	3858	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38978229	38978229	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:38978229G>A	ENST00000269576.5	-	1	618	c.609C>T	c.(607-609)atC>atT	p.I203I	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	203	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAAGGTCATCGATGGTTTTGT	0.393																																					p.I203I													.	KRT10-90	0			c.C609T						.						170.0	155.0	160.0					17																	38978229		2203	4300	6503	SO:0001819	synonymous_variant	3858	exon1			GTCATCGATGGTT	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.609C>T	17.37:g.38978229G>A		Somatic	144	1		WXS	Illumina HiSeq	Phase_I	186	113	NM_000421	0	0	0	0	0	Q14664|Q8N175	Silent	SNP	ENST00000269576.5	37	CCDS11377.1																																																																																			.		0.393	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421	
EME1	146956	bcgsc.ca	37	17	48457701	48457701	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:48457701T>C	ENST00000338165.4	+	8	1457	c.1375T>C	c.(1375-1377)Ttc>Ctc	p.F459L	EME1_ENST00000393271.2_Missense_Mutation_p.F472L|EME1_ENST00000511648.2_Missense_Mutation_p.F472L	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	459					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TACCTTCTCCTTCTGTCTGGA	0.542								Direct reversal of damage;Homologous recombination																													p.F472L													.	EME1-227	0			c.T1414C						.						74.0	58.0	63.0					17																	48457701		2203	4300	6503	SO:0001583	missense	146956	exon8			TTCTCCTTCTGTC	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1375T>C	17.37:g.48457701T>C	ENSP00000339897:p.Phe459Leu	Somatic	126	3		WXS	Illumina HiSeq	Phase_1	170	99	NM_001166131	0	0	0	1	1	Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	CCDS11565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.264539|5.264539	0.95399|0.95399	.|.	.|.	ENSG00000154920|ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648|ENST00000510246	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.72|5.72	5.72|5.72	0.89469|0.89469	ERCC4 domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80149|0.80149	0.4570|0.4570	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.82859|0.82859	-0.0249|-0.0249	10|5	0.87932|.	D|.	0|.	-15.4409|-15.4409	16.0037|16.0037	0.80327|0.80327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	472;459|.	Q96AY2-2;Q96AY2|.	.;EME1_HUMAN|.	L|P	459;472;472|270	ENSP00000339897:F459L;ENSP00000376952:F472L;ENSP00000421700:F472L|.	ENSP00000339897:F459L|.	F|L	+|+	1|2	0|0	EME1|EME1	45812700|45812700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	7.536000|7.536000	0.82023|0.82023	2.184000|2.184000	0.69523|0.69523	0.533000|0.533000	0.62120|0.62120	TTC|CTT	.		0.542	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463	
RPTOR	57521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	78811724	78811724	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:78811724A>C	ENST00000306801.3	+	10	1501	c.1139A>C	c.(1138-1140)cAa>cCa	p.Q380P	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.Q195P|RPTOR_ENST00000544334.2_Missense_Mutation_p.Q380P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	380					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCCGCAGGCAAGCCTGGGAC	0.612																																					p.Q380P		.											.	RPTOR-847	0			c.A1139C						.						111.0	77.0	89.0					17																	78811724		2203	4300	6503	SO:0001583	missense	57521	exon10			GCAGGCAAGCCTG		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1139A>C	17.37:g.78811724A>C	ENSP00000307272:p.Gln380Pro	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	174	36	NM_001163034	0	0	0	0	0	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260139	0.59321	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.46819	0.86;0.86	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.79475	2.455	0.80722	D	1	D;B;D	0.56521	0.96;0.168;0.976	D;B;B	0.64237	0.923;0.086;0.438	T	0.68526	-0.5385	10	0.46703	T	0.11	.	13.1464	0.59463	1.0:0.0:0.0:0.0	.	380;195;380	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	P	195;380;380	ENSP00000307272:Q380P;ENSP00000442479:Q380P	ENSP00000307272:Q380P	Q	+	2	0	RPTOR	76426319	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.087000	0.89521	1.990000	0.58119	0.455000	0.32223	CAA	.		0.612	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
ACTG1	71	ucsc.edu	37	17	79478136	79478136	+	Splice_Site	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:79478136T>C	ENST00000575842.1	-	4	1229		c.e4-2		RP13-766D20.2_ENST00000430912.1_RNA|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Splice_Site|ACTG1_ENST00000573283.1_Splice_Site|ACTG1_ENST00000575087.1_Splice_Site			P63261	ACTG_HUMAN	actin, gamma 1						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ATTCCATACCTAGGGGACAGA	0.537																																					.													.	ACTG1-91	0			c.803-2A>G						.						86.0	76.0	80.0					17																	79478136		2203	4300	6503	SO:0001630	splice_region_variant	71	exon6			CATACCTAGGGGA		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.803-2A>G	17.37:g.79478136T>C		Somatic	343	0		WXS	Illumina HiSeq		395	2	NM_001199954	0	0	9	9	0	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Splice_Site	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	t	3.884	-0.025353	0.07589	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	.	.	.	3.61	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8977	0.29717	0.0:0.1028:0.0:0.8972	.	.	.	.	.	-1	.	.	.	-	.	.	ACTG1	77092731	1.000000	0.71417	0.355000	0.25773	0.171000	0.22731	7.434000	0.80377	0.501000	0.28013	0.450000	0.29827	.	.		0.537	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614	Intron
IMPACT	55364	broad.mit.edu	37	18	22020564	22020564	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr18:22020564A>G	ENST00000284202.4	+	6	613	c.472A>G	c.(472-474)Atc>Gtc	p.I158V	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	158					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGATTTTGATATCAGTGAAAC	0.343																																					p.I158V													.	IMPACT-90	0			c.A472G						.						154.0	149.0	151.0					18																	22020564		2203	4300	6503	SO:0001583	missense	55364	exon6			TTTGATATCAGTG	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.472A>G	18.37:g.22020564A>G	ENSP00000284202:p.Ile158Val	Somatic	151	0		WXS	Illumina HiSeq	Phase_I	100	3	NM_018439	0	0	3	3	0	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	A	1.262	-0.615672	0.03663	.	.	ENSG00000154059	ENST00000284202	T	0.28454	1.61	5.29	-3.87	0.04218	.	1.325790	0.04559	N	0.391367	T	0.19046	0.0457	L	0.28556	0.865	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21075	-1.0256	10	0.20519	T	0.43	.	6.1062	0.20075	0.4272:0.0:0.4388:0.134	.	158	Q9P2X3	IMPCT_HUMAN	V	158	ENSP00000284202:I158V	ENSP00000284202:I158V	I	+	1	0	IMPACT	20274562	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.200000	0.09478	-0.630000	0.05567	-0.371000	0.07208	ATC	.		0.343	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9048182	9048182	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:9048182C>T	ENST00000397910.4	-	5	33652	c.33449G>A	c.(33448-33450)gGa>gAa	p.G11150E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11152	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCACCATTCCTGGTACCTC	0.468																																					p.G11150E													.	MUC16-566	0			c.G33449A						.						88.0	80.0	83.0					19																	9048182		1909	4131	6040	SO:0001583	missense	94025	exon5			ACCATTCCTGGTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33449G>A	19.37:g.9048182C>T	ENSP00000381008:p.Gly11150Glu	Somatic	140	1		WXS	Illumina HiSeq	Phase_I	118	32	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.752	0.323183	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.03553	3.89	3.11	-6.22	0.02058	.	.	.	.	.	T	0.03095	0.0091	L	0.45581	1.43	.	.	.	P	0.37101	0.582	B	0.32583	0.148	T	0.18967	-1.0320	8	0.87932	D	0	.	5.7136	0.17948	0.152:0.2213:0.0:0.6267	.	11150	B5ME49	.	E	11150	ENSP00000381008:G11150E	ENSP00000381008:G11150E	G	-	2	0	MUC16	8909182	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.020000	0.00312	-1.359000	0.02174	-1.173000	0.01734	GGA	.		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
PRKCSH	5589	hgsc.bcm.edu	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E		.											.	PRKCSH-90	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A						.						27.0	27.0	27.0					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	19.37:g.11558370G>A		Somatic	203	0		WXS	Illumina HiSeq	Phase_I	115	6	NM_001001329	0	0	15	15	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		
GIPC1	10755	broad.mit.edu	37	19	14591257	14591257	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:14591257A>T	ENST00000393033.4	-	6	784	c.515T>A	c.(514-516)aTc>aAc	p.I172N	GIPC1_ENST00000586027.1_Missense_Mutation_p.I172N|GIPC1_ENST00000393029.3_Missense_Mutation_p.I75N|GIPC1_ENST00000345425.2_Missense_Mutation_p.I172N|GIPC1_ENST00000393028.1_Missense_Mutation_p.I75N|GIPC1_ENST00000591349.1_Missense_Mutation_p.I75N	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	172	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCACGCTGATGAGGTGGAT	0.677											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I172N	Pancreas(33;78 923 2910 41023 52850)												.	GIPC1-226	0			c.T515A						.						81.0	81.0	81.0					19																	14591257		2203	4300	6503	SO:0001583	missense	10755	exon5			ACGCTGATGAGGT	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.515T>A	19.37:g.14591257A>T	ENSP00000376753:p.Ile172Asn	Somatic	197	0	696	WXS	Illumina HiSeq	Phase_I	208	6	NM_202468	0	0	138	139	1	A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778354	0.90195	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.105541	0.64402	D	0.000006	T	0.68293	0.2985	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.75172	-0.3411	10	0.87932	D	0	-6.4705	12.5539	0.56242	1.0:0.0:0.0:0.0	.	172	O14908	GIPC1_HUMAN	N	172;172;75;75;172	ENSP00000376753:I172N;ENSP00000340698:I172N;ENSP00000376749:I75N;ENSP00000376748:I75N	ENSP00000340698:I172N	I	-	2	0	GIPC1	14452257	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.736000	0.74811	1.871000	0.54225	0.459000	0.35465	ATC	.		0.677	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2		
FAM71E1	112703	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	50970983	50970983	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:50970983C>T	ENST00000600100.1	-	4	1007	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FAM71E1_ENST00000595790.1_Missense_Mutation_p.A199T			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	215										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TTGAGTGGGGCCCGCAGCTGC	0.602																																					p.A199T													.	FAM71E1-44	0			c.G595A						.						32.0	31.0	31.0					19																	50970983		2203	4299	6502	SO:0001583	missense	112703	exon4			GTGGGGCCCGCAG		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.643G>A	19.37:g.50970983C>T	ENSP00000472421:p.Ala215Thr	Somatic	175	1		WXS	Illumina HiSeq	Phase_I	140	45	NM_138411	0	0	2	10	8	Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37		.	.	.	.	.	.	.	.	.	.	C	7.100	0.573879	0.13623	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.18810	2.19;2.19	4.0	0.357	0.16079	.	0.572956	0.13647	N	0.372543	T	0.17066	0.0410	M	0.61703	1.905	0.09310	N	1	P;B	0.39094	0.659;0.22	B;B	0.38921	0.285;0.101	T	0.13575	-1.0504	10	0.28530	T	0.3	-4.065	1.7219	0.02913	0.1668:0.4764:0.1626:0.1943	.	215;199	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	T	215;199	ENSP00000375692:A215T;ENSP00000270620:A199T	ENSP00000270620:A199T	A	-	1	0	FAM71E1	55662795	0.005000	0.15991	0.001000	0.08648	0.017000	0.09413	0.570000	0.23653	0.060000	0.16281	0.462000	0.41574	GCC	.		0.602	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2		
ZNF160	90338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	53572249	53572249	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:53572249T>C	ENST00000429604.1	-	7	1953	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	ZNF160_ENST00000418871.1_Missense_Mutation_p.E513G|ZNF160_ENST00000601421.1_Missense_Mutation_p.E477G|ZNF160_ENST00000599056.1_Missense_Mutation_p.E513G	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	513					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCCCACACTCATTACACTT	0.403																																					p.E513G		.											.	ZNF160-90	0			c.A1538G						.						103.0	103.0	103.0					19																	53572249		2203	4300	6503	SO:0001583	missense	90338	exon7			CCACACTCATTAC	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1538A>G	19.37:g.53572249T>C	ENSP00000406201:p.Glu513Gly	Somatic	51	0		WXS	Illumina HiSeq	Phase_I	49	16	NM_001102603	0	0	4	5	1	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.552720	0.27739	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07444	3.19;3.19	2.47	0.0174	0.14112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20780	0.0500	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.07908	-1.0748	9	0.87932	D	0	.	6.7782	0.23630	0.363:0.0:0.0:0.637	.	513	Q9HCG1	ZN160_HUMAN	G	513	ENSP00000406201:E513G;ENSP00000409597:E513G	ENSP00000409597:E513G	E	-	2	0	ZNF160	58264061	0.000000	0.05858	0.002000	0.10522	0.354000	0.29330	0.114000	0.15520	-0.237000	0.09739	0.459000	0.35465	GAG	.		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF416	55659	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58084873	58084873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:58084873A>T	ENST00000196489.3	-	4	621	c.399T>A	c.(397-399)tgT>tgA	p.C133*		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAAAGACCGCACATGCCCCAG	0.507																																					p.C133X													.	ZNF416-90	0			c.T399A						.						108.0	87.0	94.0					19																	58084873		2203	4300	6503	SO:0001587	stop_gained	55659	exon4			GACCGCACATGCC	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.399T>A	19.37:g.58084873A>T	ENSP00000196489:p.Cys133*	Somatic	174	1		WXS	Illumina HiSeq	Phase_I	160	63	NM_017879	0	0	0	2	2	Q9NWW8	Nonsense_Mutation	SNP	ENST00000196489.3	37	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866781	0.72065	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	.	.	.	3.34	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1875	0.15191	0.8617:0.0:0.1383:0.0	.	.	.	.	X	133;119;113	.	ENSP00000196489:C133X	C	-	3	2	ZNF416	62776685	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.535000	0.23114	0.501000	0.28013	0.496000	0.49642	TGT	.		0.507	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
TRAPPC12	51112	ucsc.edu;bcgsc.ca	37	2	3392363	3392363	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:3392363G>C	ENST00000324266.5	+	2	1164	c.969G>C	c.(967-969)gtG>gtC	p.V323V	TRAPPC12_ENST00000382110.2_Silent_p.V323V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	323					vesicle-mediated transport (GO:0016192)												TGCGGGCCGTGGCCACCCAGC	0.682																																					p.V323V													.	.	0			c.G969C						.						26.0	24.0	25.0					2																	3392363		2200	4294	6494	SO:0001819	synonymous_variant	51112	exon2			GGCCGTGGCCACC	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.969G>C	2.37:g.3392363G>C		Somatic	226	2		WXS	Illumina HiSeq		199	97	NM_016030	0	0	5	17	12	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1																																																																																			.		0.682	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
ZC3H6	376940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	113089251	113089251	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:113089251G>C	ENST00000409871.1	+	12	3157	c.2756G>C	c.(2755-2757)aGt>aCt	p.S919T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S919T|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	919							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AATACAAAAAGTGATCTTCAT	0.388																																					p.S919T		.											.	ZC3H6-93	0			c.G2756C						.						65.0	59.0	61.0					2																	113089251		1855	4101	5956	SO:0001583	missense	376940	exon12			CAAAAAGTGATCT	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2756G>C	2.37:g.113089251G>C	ENSP00000386764:p.Ser919Thr	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	74	26	NM_198581	0	0	0	0	0	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.229069	0.22542	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.15487	2.42;2.42	5.94	5.06	0.68205	.	0.469384	0.26776	N	0.022560	T	0.14485	0.0350	L	0.54323	1.7	0.22389	N	0.999144	P	0.35433	0.501	B	0.26770	0.073	T	0.19679	-1.0298	10	0.39692	T	0.17	-2.4342	9.1318	0.36850	0.2286:0.0:0.7714:0.0	.	919	P61129	ZC3H6_HUMAN	T	919	ENSP00000386764:S919T;ENSP00000340298:S919T	ENSP00000340298:S919T	S	+	2	0	ZC3H6	112805722	0.931000	0.31567	0.994000	0.49952	0.985000	0.73830	1.552000	0.36244	1.512000	0.48834	0.591000	0.81541	AGT	.		0.388	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
FAP	2191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	163046173	163046173	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:163046173A>G	ENST00000188790.4	-	18	1749	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	FAP_ENST00000443424.1_Silent_p.D489D	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACTAATTTCATCTACTTCAA	0.284																																					p.D514D		.											.	FAP-93	0			c.T1542C						.						58.0	59.0	58.0					2																	163046173		2190	4274	6464	SO:0001819	synonymous_variant	2191	exon18			AATTTCATCTACT	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1542T>C	2.37:g.163046173A>G		Somatic	72	0		WXS	Illumina HiSeq	Phase_I	84	50	NM_004460	0	0	0	0	0		Silent	SNP	ENST00000188790.4	37	CCDS33311.1																																																																																			.		0.284	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
FN1	2335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	216232592	216232592	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:216232592A>G	ENST00000359671.1	-	41	7004	c.6739T>C	c.(6739-6741)Tca>Cca	p.S2247P	FN1_ENST00000432072.2_Missense_Mutation_p.S2128P|FN1_ENST00000336916.4_Missense_Mutation_p.S2216P|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.S2101P|FN1_ENST00000345488.5_Missense_Mutation_p.S2045P|FN1_ENST00000357867.4_Missense_Mutation_p.S2037P|FN1_ENST00000446046.1_Missense_Mutation_p.S2191P|FN1_ENST00000443816.1_Missense_Mutation_p.S2126P|FN1_ENST00000356005.4_Missense_Mutation_p.S2157P|FN1_ENST00000354785.4_Missense_Mutation_p.S2338P|FN1_ENST00000323926.6_Missense_Mutation_p.S2307P			P02751	FINC_HUMAN	fibronectin 1	2247	Fibrin-binding 2.|Fibronectin type-I 10. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCACTAGATGAATCACATCTG	0.458																																					p.S2338P		.											.	FN1-584	0			c.T7012C						.						115.0	90.0	98.0					2																	216232592		2203	4300	6503	SO:0001583	missense	2335	exon42			TAGATGAATCACA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6739T>C	2.37:g.216232592A>G	ENSP00000352696:p.Ser2247Pro	Somatic	131	0		WXS	Illumina HiSeq	Phase_I	155	50	NM_212482	0	0	0	3	3	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	A	20.4	3.977481	0.74360	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;1.16;1.37;-0.05;1.65;1.31;1.1;1.08;0.57;-0.11;0.61;0.54	5.67	5.67	0.87782	Fibronectin, type I (2);Complement control module (1);	0.000000	0.56097	D	0.000034	T	0.79811	0.4510	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;0.992;1.0;0.992;0.995;0.995;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.989;0.998;0.993;0.985;0.999;0.985;0.993;0.993;0.998;0.995	T	0.80269	-0.1453	10	0.49607	T	0.09	.	15.8986	0.79356	1.0:0.0:0.0:0.0	.	2128;2307;2037;2157;2191;2216;2248;2101;2126;2338;2247	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	P	2101;2307;2216;2037;2338;2248;2247;2045;2191;2126;2128;2157;964	ENSP00000394423:S2101P;ENSP00000323534:S2307P;ENSP00000338200:S2216P;ENSP00000350534:S2037P;ENSP00000346839:S2338P;ENSP00000352696:S2247P;ENSP00000273049:S2045P;ENSP00000410422:S2191P;ENSP00000415018:S2126P;ENSP00000399538:S2128P;ENSP00000348285:S2157P;ENSP00000416139:S964P	ENSP00000265313:S2248P	S	-	1	0	FN1	215940837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.156000	0.67533	0.477000	0.44152	TCA	.		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
CHPF	79586	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	220406754	220406754	+	Missense_Mutation	SNP	G	G	A	rs571316585		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:220406754G>A	ENST00000243776.6	-	2	720	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CHPF_ENST00000535926.1_5'UTR|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.R158W|TMEM198_ENST00000373883.3_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	158					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTGGGGCCCGGCGGCCCCGT	0.721											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R158W													.	CHPF-90	0			c.C472T						.						12.0	12.0	12.0					2																	220406754		2186	4288	6474	SO:0001583	missense	79586	exon2			GGGCCCGGCGGCC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.472C>T	2.37:g.220406754G>A	ENSP00000243776:p.Arg158Trp	Somatic	103	0	2266	WXS	Illumina HiSeq	Phase_I	83	6	NM_024536	0	0	33	39	6	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332252	0.81801	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.12672	2.66	4.28	2.28	0.28536	.	0.155094	0.42294	D	0.000738	T	0.16128	0.0388	N	0.12182	0.205	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63488	0.915;0.908	T	0.07139	-1.0788	10	0.66056	D	0.02	-28.0341	10.855	0.46794	0.0:0.0:0.4172:0.5828	.	158;158	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	W	158	ENSP00000243776:R158W	ENSP00000243776:R158W	R	-	1	2	CHPF	220114998	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	3.858000	0.55979	1.135000	0.42183	0.448000	0.29417	CGG	.		0.721	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
HJURP	55355	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	234749356	234749356	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:234749356G>C	ENST00000411486.2	-	8	2135	c.2070C>G	c.(2068-2070)ggC>ggG	p.G690G	HJURP_ENST00000441687.1_Silent_p.G605G|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Silent_p.G636G	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	690					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCGTCCGGAGCCCTGGGGTT	0.592																																					p.G690G													.	HJURP-69	0			c.C2070G						.						83.0	86.0	85.0					2																	234749356		2203	4300	6503	SO:0001819	synonymous_variant	55355	exon8			TCCGGAGCCCTGG		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2070C>G	2.37:g.234749356G>C		Somatic	85	1		WXS	Illumina HiSeq	Phase_I	113	57	NM_018410	0	0	0	0	0	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	ENST00000411486.2	37	CCDS33406.1																																																																																			.		0.592	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410	
TBC1D20	128637	broad.mit.edu	37	20	422661	422661	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:422661G>T	ENST00000354200.4	-	4	511	c.364C>A	c.(364-366)Ctc>Atc	p.L122I	TBC1D20_ENST00000461188.1_5'Flank	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	122	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCTTCCTGGAGCCCTTCTCTC	0.517																																					p.L122I													.	TBC1D20-90	0			c.C364A						.						93.0	91.0	92.0					20																	422661		2203	4300	6503	SO:0001583	missense	128637	exon4			CCTGGAGCCCTTC	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.364C>A	20.37:g.422661G>T	ENSP00000346139:p.Leu122Ile	Somatic	83	1		WXS	Illumina HiSeq	Phase_I	69	5	NM_144628	0	0	4	4	0	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310040	0.81247	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.04275	3.66	6.03	6.03	0.97812	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00137	-1.2004	10	0.46703	T	0.11	-10.3698	10.8765	0.46915	0.1422:0.0:0.8578:0.0	.	122	Q96BZ9	TBC20_HUMAN	I	122;147	ENSP00000346139:L122I	ENSP00000246077:L147I	L	-	1	0	TBC1D20	370661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.393000	0.59665	2.854000	0.98071	0.655000	0.94253	CTC	.		0.517	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628	
SRXN1	140809	broad.mit.edu	37	20	633661	633661	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:633661A>G	ENST00000381962.3	-	1	353	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	RP5-850E9.3_ENST00000488788.2_Intron	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	57					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GCGGGGTCCAACACGGACGGC	0.731																																					p.L57L													.	SRXN1-91	0			c.T169C						.						12.0	12.0	12.0					20																	633661		2174	4259	6433	SO:0001819	synonymous_variant	140809	exon1			GGTCCAACACGGA	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.169T>C	20.37:g.633661A>G		Somatic	144	0		WXS	Illumina HiSeq	Phase_I	93	3	NM_080725	0	0	8	8	0	B2R543|Q8NDM3|Q96AK6	Silent	SNP	ENST00000381962.3	37	CCDS13005.1																																																																																			.		0.731	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725	
TMEM230	29058	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	5086868	5086868	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:5086868C>T	ENST00000379286.2	-	4	608	c.188G>A	c.(187-189)gGc>gAc	p.G63D	TMEM230_ENST00000379283.2_Missense_Mutation_p.G63D|TMEM230_ENST00000379277.2_Missense_Mutation_p.G63D|TMEM230_ENST00000379279.2_Missense_Mutation_p.G63D|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Missense_Mutation_p.G63D|TMEM230_ENST00000342308.5_Missense_Mutation_p.G126D	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	63						integral component of membrane (GO:0016021)											CAGGAGGGAGCCTATAATAAT	0.453																																					p.G126D		.											.	.	0			c.G377A						.						66.0	66.0	66.0					20																	5086868		2203	4300	6503	SO:0001583	missense	29058	exon4			AGGGAGCCTATAA	AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 30"""	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.188G>A	20.37:g.5086868C>T	ENSP00000368588:p.Gly63Asp	Somatic	178	0		WXS	Illumina HiSeq	Phase_I	93	6	NM_001009923	0	0	71	85	14	B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	ENST00000379286.2	37	CCDS13086.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392086	0.83011	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277;ENST00000379276	T	0.60299	0.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.964;0.995;0.993	D	0.84375	0.0546	10	0.87932	D	0	-27.0491	17.8394	0.88711	0.0:1.0:0.0:0.0	.	63;63;126	Q5JWB9;Q96A57;Q96A57-2	.;CT030_HUMAN;.	D	63;126;63;63;63;63;63;63	ENSP00000341364:G126D	ENSP00000202834:G63D	G	-	2	0	C20orf30	5034868	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.104000	0.77024	2.854000	0.98071	0.655000	0.94253	GGC	.		0.453	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077846.1		
PLCB4	5332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	9440354	9440354	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:9440354G>A	ENST00000378493.1	+	31	3124	c.3109G>A	c.(3109-3111)Gaa>Aaa	p.E1037K	PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378501.2_Missense_Mutation_p.E1037K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1037K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1037K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1049K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1049K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1037					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGGAGCAAGAAATCCGAGA	0.502																																					p.E1049K		.											.	PLCB4-274	0			c.G3145A						.						64.0	53.0	57.0					20																	9440354		2203	4300	6503	SO:0001583	missense	5332	exon34			GAGCAAGAAATCC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3109G>A	20.37:g.9440354G>A	ENSP00000367754:p.Glu1037Lys	Somatic	72	0		WXS	Illumina HiSeq	Phase_I	71	23	NM_001172646	0	0	7	11	4	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565149	0.65651	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.51	5.51	0.81932	.	0.055638	0.64402	D	0.000001	T	0.44829	0.1312	L	0.50333	1.59	0.53688	D	0.999974	B;B;B;P	0.37824	0.042;0.021;0.083;0.609	B;B;B;P	0.44860	0.013;0.014;0.011;0.462	T	0.29027	-1.0025	10	0.35671	T	0.21	.	12.7258	0.57170	0.0753:0.0:0.9247:0.0	.	1049;884;1037;1037	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	1037;1049;1037;1037;1037;885	ENSP00000334105:E1037K;ENSP00000367734:E1049K;ENSP00000278655:E1037K;ENSP00000367754:E1037K;ENSP00000367762:E1037K;ENSP00000390616:E885K	ENSP00000278655:E1037K	E	+	1	0	PLCB4	9388354	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.421000	0.80204	2.578000	0.87016	0.561000	0.74099	GAA	.		0.502	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
APP	351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	27328004	27328004	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:27328004G>C	ENST00000346798.3	-	12	1557	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	APP_ENST00000359726.3_Silent_p.T452T|APP_ENST00000357903.3_Silent_p.T489T|APP_ENST00000440126.3_Silent_p.T484T|APP_ENST00000439274.2_Silent_p.T452T|APP_ENST00000348990.5_Silent_p.T433T|APP_ENST00000358918.3_Silent_p.T508T|APP_ENST00000448388.2_Silent_p.T398T|APP_ENST00000354192.3_Silent_p.T377T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	508	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AATGCTTTAGGGTGTGCTGTC	0.483																																					p.T508T		.											.	APP-91	0			c.C1524G						.						229.0	180.0	196.0					21																	27328004		2203	4300	6503	SO:0001819	synonymous_variant	351	exon12			CTTTAGGGTGTGC	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1524C>G	21.37:g.27328004G>C		Somatic	202	0		WXS	Illumina HiSeq	Phase_I	168	43	NM_000484	0	0	305	697	392	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.923954	0.18056	.	.	ENSG00000142192	ENST00000448850	.	.	.	5.45	3.65	0.41850	.	.	.	.	.	T	0.55970	0.1954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50816	-0.8783	4	.	.	.	-24.9633	7.0758	0.25203	0.3229:0.0:0.6771:0.0	.	.	.	.	A	411	.	.	P	-	1	0	APP	26249875	0.782000	0.28689	0.975000	0.42487	0.811000	0.45836	-0.105000	0.10907	0.869000	0.35703	0.655000	0.94253	CCT	.		0.483	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
BRWD1	54014	bcgsc.ca	37	21	40646393	40646393	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:40646393A>G	ENST00000333229.2	-	13	1478	c.1151T>C	c.(1150-1152)cTa>cCa	p.L384P	BRWD1_ENST00000380800.3_Missense_Mutation_p.L384P|BRWD1_ENST00000342449.3_Missense_Mutation_p.L384P	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	384					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCTACCACTTAGGAACCTTAA	0.378																																					p.L384P	Melanoma(170;988 1986 4794 16843 39731)												.	BRWD1-94	0			c.T1151C						.						174.0	144.0	154.0					21																	40646393		2203	4300	6503	SO:0001583	missense	54014	exon13			CCACTTAGGAACC	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1151T>C	21.37:g.40646393A>G	ENSP00000330753:p.Leu384Pro	Somatic	94	0		WXS	Illumina HiSeq	Phase_1	65	4	NM_018963	0	0	0	0	0	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382783	0.82792	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.62232	0.04;0.04;0.04	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.229595	0.29660	N	0.011536	D	0.82430	0.5035	M	0.89904	3.07	0.80722	D	1	D;D;D	0.76494	0.989;0.997;0.999	P;D;D	0.72075	0.883;0.976;0.972	D	0.86479	0.1790	10	0.87932	D	0	-5.2723	15.3221	0.74129	1.0:0.0:0.0:0.0	.	95;384;384	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	P	384	ENSP00000330753:L384P;ENSP00000344333:L384P;ENSP00000370178:L384P	ENSP00000330753:L384P	L	-	2	0	BRWD1	39568263	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.798000	0.91888	2.031000	0.59945	0.397000	0.26171	CTA	.		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
ARVCF	421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	19967613	19967613	+	Missense_Mutation	SNP	C	C	A	rs376884775		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:19967613C>A	ENST00000263207.3	-	6	1340	c.1049G>T	c.(1048-1050)cGc>cTc	p.R350L	ARVCF_ENST00000406259.1_Missense_Mutation_p.R350L|ARVCF_ENST00000344269.3_Missense_Mutation_p.R287L|ARVCF_ENST00000401994.1_Missense_Mutation_p.R287L|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Missense_Mutation_p.R287L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	350					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGGCTCCTTGCGGGCGCTATC	0.726																																					p.R350L		.											.	ARVCF-91	0			c.G1049T						.						5.0	7.0	6.0					22																	19967613		2043	3993	6036	SO:0001583	missense	421	exon6			TCCTTGCGGGCGC		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1049G>T	22.37:g.19967613C>A	ENSP00000263207:p.Arg350Leu	Somatic	51	0		WXS	Illumina HiSeq	Phase_I	34	14	NM_001670	0	0	1	2	1	B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120544	0.94385	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.69435	-0.4;-0.34;-0.34;-0.34;-0.4	5.35	4.33	0.51752	Armadillo-like helical (1);	0.049736	0.85682	D	0.000000	T	0.61788	0.2375	L	0.38838	1.175	0.80722	D	1	P	0.49090	0.919	P	0.46850	0.529	T	0.60747	-0.7202	9	.	.	.	-18.2472	14.2537	0.66038	0.0:0.9281:0.0:0.0719	.	350	O00192	ARVC_HUMAN	L	350;287;287;287;350	ENSP00000263207:R350L;ENSP00000342042:R287L;ENSP00000384341:R287L;ENSP00000384732:R287L;ENSP00000385444:R350L	.	R	-	2	0	ARVCF	18347613	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.598000	0.67585	1.406000	0.46857	0.655000	0.94253	CGC	.		0.726	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670	
NEFH	4744	hgsc.bcm.edu	37	22	29885562	29885562	+	Missense_Mutation	SNP	G	G	A	rs370929798		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:29885562G>A	ENST00000310624.6	+	4	1966	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACGAAGGAGGAAGCAAAGTC	0.562																																					p.E645K		.											.	NEFH-90	0			c.G1933A						.						82.0	88.0	86.0					22																	29885562		2203	4300	6503	SO:0001583	missense	4744	exon4			AAGGAGGAAGCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1933G>A	22.37:g.29885562G>A	ENSP00000311997:p.Glu645Lys	Somatic	305	0		WXS	Illumina HiSeq	Phase_I	192	25	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031217	0.19590	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83914	-1.78	4.97	4.97	0.65823	.	0.115504	0.38778	N	0.001569	D	0.87783	0.6264	L	0.61218	1.895	0.29104	N	0.881289	P	0.36712	0.566	P	0.52267	0.694	D	0.83526	0.0088	10	0.44086	T	0.13	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	645	P12036	NFH_HUMAN	K	645	ENSP00000311997:E645K	ENSP00000311997:E645K	E	+	1	0	NEFH	28215562	0.001000	0.12720	0.367000	0.25926	0.091000	0.18340	0.923000	0.28757	2.745000	0.94114	0.491000	0.48974	GAA	.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
CACNA1I	8911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	40055466	40055466	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:40055466A>G	ENST00000402142.3	+	13	2359	c.2359A>G	c.(2359-2361)Aag>Gag	p.K787E	CACNA1I_ENST00000336649.4_Missense_Mutation_p.K793E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.K787E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.K752E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.K752E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.K752E	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	787					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TTTTGGCTGCAAGTTCAGCCT	0.552																																					p.K787E		.											.	CACNA1I-135	0			c.A2359G						.						51.0	52.0	52.0					22																	40055466		2095	4208	6303	SO:0001583	missense	8911	exon13			GGCTGCAAGTTCA	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2359A>G	22.37:g.40055466A>G	ENSP00000385019:p.Lys787Glu	Somatic	222	0		WXS	Illumina HiSeq	Phase_I	179	64	NM_021096	0	0	0	0	0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813895	0.90790	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	4.3	4.3	0.51218	Ion transport (1);	0.048588	0.85682	D	0.000000	D	0.98544	0.9514	M	0.69185	2.1	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.85130	0.995;0.948;0.997;0.996	D	0.99593	1.0976	10	0.87932	D	0	.	13.8843	0.63699	1.0:0.0:0.0:0.0	.	752;787;752;787	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	E	787;752;787;752;793;752	ENSP00000385019:K787E;ENSP00000384093:K752E;ENSP00000383887:K787E;ENSP00000385680:K752E;ENSP00000337829:K793E;ENSP00000383028:K752E	ENSP00000337829:K793E	K	+	1	0	CACNA1I	38385412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.849000	0.92178	1.920000	0.55613	0.459000	0.35465	AAG	.		0.552	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46654194	46654194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46654194G>A	ENST00000253255.5	-	1	5025	c.5026C>T	c.(5026-5028)Cag>Tag	p.Q1676*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1676					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGACGATCTGGTCATGTATC	0.418																																					p.Q1676X		.											.	PKDREJ-156	0			c.C5026T						.						200.0	166.0	178.0					22																	46654194		2203	4300	6503	SO:0001587	stop_gained	10343	exon1			CGATCTGGTCATG	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5026C>T	22.37:g.46654194G>A	ENSP00000253255:p.Gln1676*	Somatic	68	0		WXS	Illumina HiSeq	Phase_I	66	27	NM_006071	0	0	0	0	0	B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	g	42	9.331670	0.99138	.	.	ENSG00000130943	ENST00000253255	.	.	.	4.95	-3.76	0.04359	.	1.756340	0.02965	N	0.143633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.9396	3.1764	0.06570	0.1516:0.388:0.2844:0.1761	.	.	.	.	X	1676	.	ENSP00000253255:Q1676X	Q	-	1	0	PKDREJ	45032858	0.000000	0.05858	0.000000	0.03702	0.449000	0.32228	0.053000	0.14184	-0.308000	0.08792	0.298000	0.19748	CAG	.		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
TTC38	55020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46677589	46677589	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46677589A>G	ENST00000381031.3	+	7	785	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TTC38_ENST00000445282.2_Missense_Mutation_p.M179V	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	237						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GTTGGAATTCATGCAGCACTC	0.512																																					p.M237V		.											.	TTC38-91	0			c.A709G						.						125.0	128.0	127.0					22																	46677589		2092	4220	6312	SO:0001583	missense	55020	exon7			GAATTCATGCAGC		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.709A>G	22.37:g.46677589A>G	ENSP00000370419:p.Met237Val	Somatic	116	0		WXS	Illumina HiSeq	Phase_I	88	31	NM_017931	0	0	8	13	5	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079821	0.76528	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.75704	1.62;-0.96	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.072520	0.85682	D	0.000000	D	0.84320	0.5446	M	0.79693	2.465	0.58432	D	0.999992	D;D	0.62365	0.991;0.962	P;P	0.59171	0.853;0.523	D	0.84956	0.0874	10	0.42905	T	0.14	-12.5636	15.3166	0.74085	1.0:0.0:0.0:0.0	.	179;237	E7ES35;Q5R3I4	.;TTC38_HUMAN	V	237;179	ENSP00000370419:M237V;ENSP00000393960:M179V	ENSP00000370419:M237V	M	+	1	0	TTC38	45056253	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.319000	0.59197	2.207000	0.71202	0.533000	0.62120	ATG	.		0.512	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931	
FBXL2	25827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	33415410	33415410	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:33415410C>T	ENST00000484457.1	+	9	745	c.654C>T	c.(652-654)tgC>tgT	p.C218C	FBXL2_ENST00000538892.1_Silent_p.C150C|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Silent_p.C150C|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Silent_p.C134C	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCAGTCCTGCTCAGTAAGTA	0.498																																					p.C218C		.											.	FBXL2-289	0			c.C654T						.						152.0	145.0	147.0					3																	33415410		2203	4300	6503	SO:0001819	synonymous_variant	25827	exon9			GTCCTGCTCAGTA	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.654C>T	3.37:g.33415410C>T		Somatic	132	0		WXS	Illumina HiSeq	Phase_I	139	64	NM_012157	0	0	0	0	0		Silent	SNP	ENST00000484457.1	37	CCDS2658.1																																																																																			.		0.498	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	
CCDC66	285331	broad.mit.edu	37	3	56649978	56649978	+	Silent	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:56649978A>C	ENST00000394672.3	+	13	1810	c.1740A>C	c.(1738-1740)gcA>gcC	p.A580A	CCDC66_ENST00000436465.2_Silent_p.A580A|CCDC66_ENST00000326595.7_Silent_p.A546A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	580					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AATATAATGCATCTAACATTT	0.294																																					p.A580A													.	CCDC66-135	0			c.A1740C						.						73.0	78.0	76.0					3																	56649978		2203	4294	6497	SO:0001819	synonymous_variant	285331	exon13			TAATGCATCTAAC	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1740A>C	3.37:g.56649978A>C		Somatic	31	0		WXS	Illumina HiSeq	Phase_I	46	7	NM_001141947	0	0	1	3	2	B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	CCDS46852.1																																																																																			.		0.294	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
QTRTD1	79691	broad.mit.edu	37	3	113795754	113795754	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:113795754A>G	ENST00000493014.1	+	3	461	c.393A>G	c.(391-393)tcA>tcG	p.S131S	QTRTD1_ENST00000485050.1_Silent_p.S249S|QTRTD1_ENST00000281273.4_Silent_p.S237S|QTRTD1_ENST00000479882.1_Silent_p.S114S	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GCTTGCTGTCATCAGTCACTG	0.577																																					p.S249S													.	QTRTD1-91	0			c.A747G						.						68.0	55.0	59.0					3																	113795754		2203	4300	6503	SO:0001819	synonymous_variant	79691	exon6			GCTGTCATCAGTC	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.393A>G	3.37:g.113795754A>G		Somatic	190	1		WXS	Illumina HiSeq	Phase_I	226	4	NM_001256835	0	0	3	3	0		Silent	SNP	ENST00000493014.1	37	CCDS58845.1																																																																																			.		0.577	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638	
PARP14	54625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	122437696	122437696	+	Silent	SNP	A	A	G	rs377210300		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:122437696A>G	ENST00000474629.2	+	14	4964	c.4698A>G	c.(4696-4698)acA>acG	p.T1566T	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1566	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAAAAAACAGTTGATGTCA	0.373																																					p.T1566T		.											.	PARP14-525	0			c.A4698G						.	A		0,3790		0,0,1895	88.0	87.0	87.0		4698	-5.7	0.0	3		87	1,8247		0,1,4123	no	coding-synonymous	PARP14	NM_017554.2		0,1,6018	GG,GA,AA		0.0121,0.0,0.0083		1566/1802	122437696	1,12037	1895	4124	6019	SO:0001819	synonymous_variant	54625	exon14			AAAAACAGTTGAT	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4698A>G	3.37:g.122437696A>G		Somatic	99	0		WXS	Illumina HiSeq	Phase_I	150	39	NM_017554	0	0	11	15	4	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																			.		0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
UBA5	79876	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	132379518	132379518	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:132379518A>T	ENST00000356232.4	+	1	1209	c.137A>T	c.(136-138)gAg>gTg	p.E46V	ACAD11_ENST00000481970.2_5'Flank|ACAD11_ENST00000355458.3_5'Flank|ACAD11_ENST00000264990.6_5'UTR|UBA5_ENST00000493720.2_Missense_Mutation_p.E46V|UBA5_ENST00000473651.1_Missense_Mutation_p.E46V|ACAD11_ENST00000489991.1_5'Flank|ACAD11_ENST00000545291.1_5'Flank|UBA5_ENST00000264991.4_Intron|UBA5_ENST00000494238.2_De_novo_Start_OutOfFrame|UBA5_ENST00000480955.1_3'UTR	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	46					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGAGCTCAGAGGTGGTGGAT	0.672																																					p.E46V													.	UBA5-226	0			c.A137T						.						35.0	36.0	36.0					3																	132379518		2177	4271	6448	SO:0001583	missense	79876	exon1			GCTCAGAGGTGGT	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.137A>T	3.37:g.132379518A>T	ENSP00000348565:p.Glu46Val	Somatic	264	2		WXS	Illumina HiSeq	Phase_I	359	171	NM_024818	0	0	7	17	10	A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	32	5.173474	0.94807	.	.	ENSG00000081307	ENST00000356232;ENST00000493720;ENST00000473651	D;D;D	0.85171	-1.95;-1.93;-1.89	4.83	4.83	0.62350	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.67700	2.07	0.80722	D	1	B;P	0.38922	0.196;0.651	B;B	0.35039	0.141;0.194	D	0.84018	0.0352	10	0.52906	T	0.07	-8.3735	13.1245	0.59346	1.0:0.0:0.0:0.0	.	46;46	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	V	46	ENSP00000348565:E46V;ENSP00000417879:E46V;ENSP00000424984:E46V	ENSP00000348565:E46V	E	+	2	0	UBA5	133862208	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	7.126000	0.77201	2.029000	0.59856	0.459000	0.35465	GAG	.		0.672	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818	
STAG1	10274	broad.mit.edu	37	3	136183765	136183765	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:136183765T>C	ENST00000383202.2	-	13	1527	c.1271A>G	c.(1270-1272)cAt>cGt	p.H424R	STAG1_ENST00000536929.1_Intron|STAG1_ENST00000434713.2_Missense_Mutation_p.H198R|STAG1_ENST00000236698.5_Missense_Mutation_p.H424R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	424					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACAGGGCGATGTGCCGAGTA	0.393																																					p.H424R													.	STAG1-228	0			c.A1271G						.						75.0	69.0	71.0					3																	136183765		2203	4300	6503	SO:0001583	missense	10274	exon13			GGGCGATGTGCCG	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1271A>G	3.37:g.136183765T>C	ENSP00000372689:p.His424Arg	Somatic	41	0		WXS	Illumina HiSeq	Phase_I	60	4	NM_005862	0	0	0	0	0	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.922940	0.73213	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.32753	1.44;1.44;1.44	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.70903	2.155	0.80722	D	1	B;D;B	0.52996	0.386;0.957;0.386	B;P;B	0.54499	0.175;0.754;0.175	T	0.40459	-0.9562	10	0.32370	T	0.25	.	15.615	0.76760	0.0:0.0:0.0:1.0	.	441;424;424	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	R	424;424;198	ENSP00000372689:H424R;ENSP00000236698:H424R;ENSP00000404396:H198R	ENSP00000236698:H424R	H	-	2	0	STAG1	137666455	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.091000	0.63221	0.477000	0.44152	CAT	.		0.393	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
SMC4	10051	bcgsc.ca	37	3	160119803	160119803	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:160119803T>C	ENST00000357388.3	+	3	691	c.240T>C	c.(238-240)ccT>ccC	p.P80P	SMC4_ENST00000469762.1_Silent_p.P55P|SMC4_ENST00000360111.2_Silent_p.P80P|IFT80_ENST00000477495.1_5'Flank|SMC4_ENST00000462787.1_Silent_p.P80P|SMC4_ENST00000344722.5_Silent_p.P80P|MIR16-2_ENST00000362117.1_RNA|IFT80_ENST00000496589.1_5'Flank|IFT80_ENST00000326448.7_5'Flank|RP11-432B6.3_ENST00000483754.1_Intron|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	80					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGGAGCTCCTCGGCTTATGA	0.413																																					p.P80P													.	SMC4-291	0			c.T240C						.						70.0	79.0	76.0					3																	160119803		2203	4300	6503	SO:0001819	synonymous_variant	10051	exon2			AGCTCCTCGGCTT	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.240T>C	3.37:g.160119803T>C		Somatic	47	0		WXS	Illumina HiSeq	Phase_1	51	4	NM_005496	0	0	0	0	0	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	CCDS3189.1																																																																																			.		0.413	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
NDUFB5	4711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	179322636	179322636	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:179322636G>A	ENST00000259037.3	+	1	147	c.33G>A	c.(31-33)tcG>tcA	p.S11S	NDUFB5_ENST00000493866.1_Silent_p.S11S|NDUFB5_ENST00000472629.1_Silent_p.S11S|MRPL47_ENST00000259038.2_5'Flank|MRPL47_ENST00000392659.2_5'Flank|MRPL47_ENST00000476781.1_5'Flank	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	11					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GGCGGGTTTCGGTTACTGCGG	0.617																																					p.S11S		.											.	NDUFB5-91	0			c.G33A						.						36.0	36.0	36.0					3																	179322636		2203	4300	6503	SO:0001819	synonymous_variant	4711	exon1			GGTTTCGGTTACT	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.33G>A	3.37:g.179322636G>A		Somatic	125	0		WXS	Illumina HiSeq	Phase_I	107	34	NM_002492	0	0	1	20	19	Q561V6	Silent	SNP	ENST00000259037.3	37	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903796	0.52333	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.75	1.95	0.26073	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48340	-0.9044	5	0.40728	T	0.16	-3.1698	6.2744	0.20973	0.2212:0.1325:0.6463:0.0	.	.	.	.	Q	8	.	ENSP00000419099:R3Q	R	+	2	0	NDUFB5	180805330	0.998000	0.40836	0.993000	0.49108	0.016000	0.09150	0.145000	0.16157	0.148000	0.19059	-0.133000	0.14855	CGG	.		0.617	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	
KLHL6	89857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	183226047	183226047	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:183226047C>T	ENST00000341319.3	-	3	744	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	237	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATCACGGTCTCAAACACCTGa	0.547																																					p.E237K		.											.	KLHL6-93	0			c.G709A						.						135.0	114.0	121.0					3																	183226047		2203	4300	6503	SO:0001583	missense	89857	exon3			CGGTCTCAAACAC	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.709G>A	3.37:g.183226047C>T	ENSP00000341342:p.Glu237Lys	Somatic	199	0		WXS	Illumina HiSeq	Phase_I	277	69	NM_130446	0	0	0	0	0	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	36	5.904004	0.97087	.	.	ENSG00000172578	ENST00000341319	T	0.69685	-0.42	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.043908	0.85682	D	0.000000	D	0.83083	0.5177	M	0.79343	2.45	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82400	-0.0476	10	0.54805	T	0.06	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	237	Q8WZ60	KLHL6_HUMAN	K	237	ENSP00000341342:E237K	ENSP00000341342:E237K	E	-	1	0	KLHL6	184708741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAG	.		0.547	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	
FAM184B	27146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	17710845	17710845	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:17710845G>T	ENST00000265018.3	-	2	776	c.564C>A	c.(562-564)ggC>ggA	p.G188G		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	188										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CCGGGCCCTGGCCTGGCTCCG	0.677																																					p.G188G		.											.	FAM184B-23	0			c.C564A						.						20.0	22.0	22.0					4																	17710845		692	1591	2283	SO:0001819	synonymous_variant	27146	exon2			GCCCTGGCCTGGC		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.564C>A	4.37:g.17710845G>T		Somatic	92	0		WXS	Illumina HiSeq	Phase_I	84	12	NM_015688	0	0	0	0	0		Silent	SNP	ENST00000265018.3	37	CCDS47033.1																																																																																			.		0.677	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
TMPRSS11F	389208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	68930403	68930403	+	Splice_Site	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:68930403C>A	ENST00000356291.2	-	8	1074	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AACTGCTCACCATCATCTACA	0.363																																					p.G339X		.											.	TMPRSS11F-91	0			c.G1015T						.						68.0	68.0	68.0					4																	68930403		2203	4300	6503	SO:0001630	splice_region_variant	389208	exon8			GCTCACCATCATC	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1015+1G>T	4.37:g.68930403C>A		Somatic	69	0		WXS	Illumina HiSeq	Phase_I	40	14	NM_207407	0	0	0	0	0	A8MXX2	Nonsense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	37	6.372005	0.97515	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8344	0.78787	0.0:1.0:0.0:0.0	.	.	.	.	X	339	.	.	G	-	1	0	TMPRSS11F	68612998	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.819000	0.62664	2.822000	0.97130	0.650000	0.86243	GGA	.		0.363	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Nonsense_Mutation
WWC2	80014	broad.mit.edu;bcgsc.ca	37	4	184129218	184129218	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:184129218C>T	ENST00000403733.3	+	3	553	c.354C>T	c.(352-354)taC>taT	p.Y118Y	WWC2_ENST00000513834.1_Silent_p.Y118Y|WWC2_ENST00000504005.1_5'Flank|WWC2_ENST00000448232.2_Silent_p.Y118Y|WWC2_ENST00000378925.3_Silent_p.Y20Y	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	118					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGGAACTGTACCATGTGAAGG	0.493																																					p.Y118Y													.	WWC2-93	0			c.C354T						.						65.0	71.0	69.0					4																	184129218		2090	4229	6319	SO:0001819	synonymous_variant	80014	exon3			ACTGTACCATGTG	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.354C>T	4.37:g.184129218C>T		Somatic	136	0		WXS	Illumina HiSeq	Phase_I	154	6	NM_024949	0	0	0	0	0	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	CCDS34109.2																																																																																			.		0.493	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
CASP3	836	broad.mit.edu	37	4	185552222	185552222	+	Silent	SNP	G	G	T	rs200014759	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:185552222G>T	ENST00000308394.4	-	7	835	c.573C>A	c.(571-573)gcC>gcA	p.A191A	CASP3_ENST00000523916.1_Silent_p.A191A|CASP3_ENST00000393588.4_Intron|CASP3_ENST00000393585.2_Intron|CASP3_ENST00000517513.1_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	191					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	ACAAGAAGTCGGCCTCCACTG	0.443																																					p.A191A													.	CASP3-659	0			c.C573A						.						119.0	100.0	107.0					4																	185552222		2203	4300	6503	SO:0001819	synonymous_variant	836	exon7			GAAGTCGGCCTCC	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.573C>A	4.37:g.185552222G>T		Somatic	88	0		WXS	Illumina HiSeq	Phase_I	90	3	NM_004346	0	0	10	10	0	A8K5M2|D3DP53|Q96AN1|Q96KP2	Silent	SNP	ENST00000308394.4	37	CCDS3836.1																																																																																			G|0.999;A|0.001		0.443	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346	
SLC12A7	10723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	1093744	1093744	+	Silent	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:1093744C>A	ENST00000264930.5	-	3	289	c.246G>T	c.(244-246)gtG>gtT	p.V82V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	82					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCGAGGACACCATGGGGT	0.682																																					p.V82V		.											.	SLC12A7-138	0			c.G246T						.						111.0	75.0	87.0					5																	1093744		2202	4299	6501	SO:0001819	synonymous_variant	10723	exon3			CGAGGACACCATG	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.246G>T	5.37:g.1093744C>A		Somatic	235	0		WXS	Illumina HiSeq	Phase_I	163	47	NM_006598	0	0	2	4	2	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	CCDS34129.1																																																																																			.		0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
LOX	4015	broad.mit.edu	37	5	121412648	121412648	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:121412648T>C	ENST00000231004.4	-	2	979	c.680A>G	c.(679-681)tAc>tGc	p.Y227C	LOX_ENST00000513319.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	227	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTCTGCACGTACGTGGACGC	0.632											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y227C													.	LOX-650	0			c.A680G						.						103.0	98.0	100.0					5																	121412648		2203	4300	6503	SO:0001583	missense	4015	exon2			TGCACGTACGTGG		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.680A>G	5.37:g.121412648T>C	ENSP00000231004:p.Tyr227Cys	Somatic	108	0	1511	WXS	Illumina HiSeq	Phase_I	109	3	NM_002317	0	0	1	1	0	B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139164	0.77775	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.45276	0.9	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	M	0.90542	3.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.78173	-0.2307	10	0.87932	D	0	.	14.9742	0.71257	0.0:0.0:0.0:1.0	.	227	P28300	LYOX_HUMAN	C	227;187	ENSP00000231004:Y227C	ENSP00000231004:Y227C	Y	-	2	0	LOX	121440547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.014000	0.59158	0.374000	0.22700	TAC	.		0.632	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2		
PROB1	389333	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	138727939	138727939	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:138727939A>G	ENST00000434752.2	-	1	2946	c.2832T>C	c.(2830-2832)taT>taC	p.Y944Y	MZB1_ENST00000457570.2_5'Flank|MZB1_ENST00000302125.8_5'Flank|MZB1_ENST00000412103.2_5'Flank	NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	944	Pro-rich.																GTATAGGCCCATAGGCGGGCG	0.736																																					p.Y944Y		.											.	.	0			c.T2832C						.						9.0	18.0	15.0					5																	138727939		687	1586	2273	SO:0001819	synonymous_variant	389333	exon1			AGGCCCATAGGCG	AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.2832T>C	5.37:g.138727939A>G		Somatic	193	0		WXS	Illumina HiSeq	Phase_I	124	27	NM_001161546	0	0	0	0	0	B4E007	Silent	SNP	ENST00000434752.2	37	CCDS54909.1																																																																																			.		0.736	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
RBM27	54439	broad.mit.edu;bcgsc.ca	37	5	145638017	145638017	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:145638017A>G	ENST00000265271.5	+	11	1766	c.1600A>G	c.(1600-1602)Aac>Gac	p.N534D	RBM27_ENST00000506502.1_Missense_Mutation_p.N479D	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	534					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGCTGCTAACATTGTGAT	0.343																																					p.N534D													.	RBM27-70	0			c.A1600G						.						103.0	91.0	94.0					5																	145638017		1568	3582	5150	SO:0001583	missense	54439	exon11			GCTGCTAACATTG	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1600A>G	5.37:g.145638017A>G	ENSP00000265271:p.Asn534Asp	Somatic	90	0		WXS	Illumina HiSeq	Phase_I	66	4	NM_018989	0	0	0	0	0	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549076	0.86127	.	.	ENSG00000091009	ENST00000265271	T	0.47177	0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	N	0.19112	0.55	0.43874	D	0.996481	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.41893	-0.9483	10	0.12103	T	0.63	-15.369	15.8844	0.79232	1.0:0.0:0.0:0.0	.	534;479	Q9P2N5;B3KY61	RBM27_HUMAN;.	D	534	ENSP00000265271:N534D	ENSP00000265271:N534D	N	+	1	0	RBM27	145618210	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.413000	0.90235	2.147000	0.66899	0.402000	0.26972	AAC	.		0.343	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
NSD1	64324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	176562915	176562915	+	Missense_Mutation	SNP	T	T	G	rs374083142		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:176562915T>G	ENST00000439151.2	+	2	856	c.811T>G	c.(811-813)Tta>Gta	p.L271V	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.L271V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	271					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAAGAGCAATTAAACTCAAT	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.L271V		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1-188	0			c.T811G						.						66.0	67.0	67.0					5																	176562915		2203	4300	6503	SO:0001583	missense	64324	exon2	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	GAGCAATTAAACT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.811T>G	5.37:g.176562915T>G	ENSP00000395929:p.Leu271Val	Somatic	105	0		WXS	Illumina HiSeq	Phase_I	91	31	NM_022455	0	0	0	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841288	0.32513	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94576	-3.23;-3.46	5.19	5.19	0.71726	.	0.186195	0.26485	N	0.024119	D	0.88633	0.6489	N	0.14661	0.345	0.80722	D	1	B;B;B	0.30634	0.288;0.19;0.137	B;B;B	0.30572	0.117;0.055;0.051	D	0.88112	0.2826	10	0.72032	D	0.01	.	12.6728	0.56876	0.0:0.0:0.0:1.0	.	271;271;271	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	V	271	ENSP00000395929:L271V;ENSP00000354310:L271V	ENSP00000354310:L271V	L	+	1	2	NSD1	176495521	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.025000	0.57225	2.189000	0.69895	0.533000	0.62120	TTA	.		0.383	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
KIF6	221458	broad.mit.edu	37	6	39607523	39607523	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:39607523C>T	ENST00000287152.7	-	4	356	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	KIF6_ENST00000373215.3_Missense_Mutation_p.G88S|KIF6_ENST00000538893.1_Missense_Mutation_p.G88S|KIF6_ENST00000373216.3_Missense_Mutation_p.G88S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	88	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCATTGTAACCTGCCAGGACA	0.408																																					p.G88S													.	KIF6-713	0			c.G262A						.						139.0	107.0	118.0					6																	39607523		2203	4300	6503	SO:0001583	missense	221458	exon4			TGTAACCTGCCAG	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.262G>A	6.37:g.39607523C>T	ENSP00000287152:p.Gly88Ser	Somatic	125	0		WXS	Illumina HiSeq	Phase_I	84	8	NM_145027	0	0	0	0	0	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542203	0.96474	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.82	5.82	0.92795	Kinesin, motor domain (5);	.	.	.	.	D	0.96494	0.8856	H	0.99758	4.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98057	1.0391	9	0.87932	D	0	.	19.6904	0.95998	0.0:1.0:0.0:0.0	.	88;88;88	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	S	88	ENSP00000287152:G88S;ENSP00000362312:G88S;ENSP00000362311:G88S;ENSP00000441435:G88S	ENSP00000287152:G88S	G	-	1	0	KIF6	39715501	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.696000	0.84270	2.767000	0.95098	0.655000	0.94253	GGT	.		0.408	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	
MRPS10	55173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	42176601	42176601	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:42176601T>A	ENST00000053468.3	-	6	532	c.517A>T	c.(517-519)Aca>Tca	p.T173S		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	173						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TATACCTTTGTTACTTCCATG	0.443																																					p.T173S		.											.	MRPS10-90	0			c.A517T						.						103.0	98.0	100.0					6																	42176601		2203	4300	6503	SO:0001583	missense	55173	exon6			CCTTTGTTACTTC		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.517A>T	6.37:g.42176601T>A	ENSP00000053468:p.Thr173Ser	Somatic	178	0		WXS	Illumina HiSeq	Phase_I	152	45	NM_018141	0	0	0	0	0	B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906883	0.72868	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	5.78	0.91487	.	0.094475	0.64402	D	0.000001	T	0.49047	0.1534	L	0.41415	1.275	0.46901	D	0.999243	D	0.53462	0.96	P	0.52454	0.699	T	0.46456	-0.9190	9	0.32370	T	0.25	-7.8115	15.0972	0.72244	0.0:0.0:0.0:1.0	.	173	P82664	RT10_HUMAN	S	173	.	ENSP00000053468:T173S	T	-	1	0	MRPS10	42284579	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.043000	0.76572	2.200000	0.70718	0.460000	0.39030	ACA	.		0.443	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1		
SLC29A1	2030	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	44197513	44197513	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:44197513C>A	ENST00000393841.1	+	5	790	c.299C>A	c.(298-300)tCc>tAc	p.S100Y	SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371713.1_Missense_Mutation_p.S100Y|SLC29A1_ENST00000371724.1_Missense_Mutation_p.S100Y|SLC29A1_ENST00000371731.1_Missense_Mutation_p.S100Y|SLC29A1_ENST00000371755.3_Missense_Mutation_p.S100Y|SLC29A1_ENST00000371740.5_Missense_Mutation_p.S100Y|SLC29A1_ENST00000427851.2_Missense_Mutation_p.S100Y|SLC29A1_ENST00000393844.1_Missense_Mutation_p.S100Y|SLC29A1_ENST00000313248.7_Missense_Mutation_p.S179Y|SLC29A1_ENST00000371708.1_Missense_Mutation_p.S100Y	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	100					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TACCTCAACTCCTTCCTGCAT	0.597																																					p.S100Y													.	SLC29A1-154	0			c.C299A						.						130.0	119.0	123.0					6																	44197513		2203	4300	6503	SO:0001583	missense	2030	exon4			TCAACTCCTTCCT	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.299C>A	6.37:g.44197513C>A	ENSP00000377424:p.Ser100Tyr	Somatic	75	1		WXS	Illumina HiSeq	Phase_I	89	30	NM_004955	0	0	12	17	5	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403214	0.62288	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.1	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.86420	2.815	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.987;0.982	D	0.87111	0.2185	10	0.02654	T	1	-14.8574	13.9988	0.64419	0.0:0.8486:0.1514:0.0	.	100;119;179;100	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	Y	119;100;179;100;100;100;100;100;100;100;100	ENSP00000377427:S100Y;ENSP00000319152:S179Y;ENSP00000392668:S100Y;ENSP00000360820:S100Y;ENSP00000360805:S100Y;ENSP00000360796:S100Y;ENSP00000377424:S100Y;ENSP00000360789:S100Y;ENSP00000360778:S100Y;ENSP00000360773:S100Y	ENSP00000319152:S179Y	S	+	2	0	SLC29A1	44305491	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.007000	0.76335	1.360000	0.45960	0.563000	0.77884	TCC	.		0.597	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		
EEF1A1	1915	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	74227601	74227601	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:74227601C>T	ENST00000316292.9	-	7	2312	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.V441M|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V441M	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	441					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTTGTCCACTGCTTTGATG	0.443											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.V441M		.											.	EEF1A1-226	0			c.G1321A						.						29.0	30.0	30.0					6																	74227601		2203	4296	6499	SO:0001583	missense	1915	exon8			TGTCCACTGCTTT	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1321G>A	6.37:g.74227601C>T	ENSP00000339063:p.Val441Met	Somatic	172	0	1151	WXS	Illumina HiSeq	Phase_I	101	25	NM_001402	1	0	6399	11366	4966	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352587	0.82132	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.52526	0.66;0.66;0.66	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.072938	0.53938	U	0.000048	T	0.68229	0.2978	H	0.94462	3.54	0.80722	D	1	D;D;D	0.55172	0.97;0.97;0.97	P;P;P	0.54590	0.756;0.756;0.756	T	0.79850	-0.1629	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	441;441;441	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	M	441;441;441;420	ENSP00000339063:V441M;ENSP00000339053:V441M;ENSP00000330054:V441M	ENSP00000339053:V441M	V	-	1	0	EEF1A1	74284322	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.405000	0.80007	2.381000	0.81170	0.556000	0.70494	GTG	.		0.443	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	
RIPPLY2	134701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	84563845	84563845	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:84563845C>T	ENST00000369689.1	+	3	355	c.204C>T	c.(202-204)gcC>gcT	p.A68A	RIPPLY2_ENST00000369687.1_Silent_p.A10A	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	68					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGACCGCAGCCTCAGGAAAGC	0.592																																					p.A68A		.											.	RIPPLY2-90	0			c.C204T						.						102.0	96.0	98.0					6																	84563845		2203	4300	6503	SO:0001819	synonymous_variant	134701	exon3			CGCAGCCTCAGGA	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.204C>T	6.37:g.84563845C>T		Somatic	163	0		WXS	Illumina HiSeq	Phase_I	132	13	NM_001009994	0	0	0	0	0	Q5TAB6	Silent	SNP	ENST00000369689.1	37	CCDS34493.1																																																																																			.		0.592	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	
ACTB	60	broad.mit.edu	37	7	5568199	5568199	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:5568199G>C	ENST00000331789.5	-	4	706	c.515C>G	c.(514-516)cCc>cGc	p.P172R	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	172					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GATGGCATGGGGGAGGGCATA	0.637																																					p.P172R													.	ACTB-226	0			c.C515G						.						62.0	62.0	62.0					7																	5568199		2203	4300	6503	SO:0001583	missense	60	exon4			GCATGGGGGAGGG	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.515C>G	7.37:g.5568199G>C	ENSP00000349960:p.Pro172Arg	Somatic	274	0		WXS	Illumina HiSeq	Phase_I	303	8	NM_001101	1	0	1882	1925	42	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978194	0.53720	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713	D	0.94138	-3.36	5.37	4.47	0.54385	.	0.000000	0.56097	U	0.000026	D	0.96586	0.8886	M	0.84773	2.715	0.51233	D	0.999913	P	0.38729	0.644	P	0.60886	0.88	D	0.96792	0.9583	10	0.87932	D	0	.	12.3856	0.55330	0.0848:0.0:0.9152:0.0	.	172	P60709	ACTB_HUMAN	R	172;144;91	ENSP00000349960:P172R	ENSP00000440549:P91R	P	-	2	0	ACTB	5534725	1.000000	0.71417	0.929000	0.37066	0.984000	0.73092	7.659000	0.83766	2.514000	0.84764	0.650000	0.86243	CCC	.		0.637	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101	
C7orf65	401335	broad.mit.edu;bcgsc.ca	37	7	47698325	47698325	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:47698325G>A	ENST00000408988.2	+	2	140	c.105G>A	c.(103-105)ttG>ttA	p.L35L		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	35										endometrium(1)|lung(2)	3						taagcaacttgcccaggccac	0.423																																					p.L35L													.	.	0			c.G105A						.						55.0	52.0	53.0					7																	47698325		1568	3582	5150	SO:0001819	synonymous_variant	401335	exon2			CAACTTGCCCAGG		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.105G>A	7.37:g.47698325G>A		Somatic	89	0		WXS	Illumina HiSeq	Phase_I	98	6	NM_001123065	0	0	0	0	0	A4D2F8	Silent	SNP	ENST00000408988.2	37	CCDS43580.1																																																																																			.		0.423	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065	
GATAD1	57798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	92083893	92083893	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:92083893A>G	ENST00000287957.3	+	4	790	c.513A>G	c.(511-513)agA>agG	p.R171R	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	171						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAAATCAGAGGTTTTATCC	0.458																																					p.R171R		.											.	GATAD1-514	0			c.A513G						.						193.0	183.0	186.0					7																	92083893		2203	4300	6503	SO:0001819	synonymous_variant	57798	exon4			AATCAGAGGTTTT		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"""GATA zinc finger domain containing"""	29941	protein-coding gene	gene with protein product	"""ocular development associated gene"""	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.513A>G	7.37:g.92083893A>G		Somatic	148	0		WXS	Illumina HiSeq	Phase_I	136	63	NM_021167	0	0	5	13	8	B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Silent	SNP	ENST00000287957.3	37	CCDS5625.1																																																																																			.		0.458	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167	
LRCH4	4034	broad.mit.edu;bcgsc.ca	37	7	100176068	100176068	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:100176068C>A	ENST00000310300.6	-	6	854	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	268					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCCAGGGCCGACCCACGC	0.632																																					p.A268S													.	LRCH4-136	0			c.G802T						.						32.0	41.0	38.0					7																	100176068		2202	4298	6500	SO:0001583	missense	4034	exon6			CCAGGGCCGACCC	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.802G>T	7.37:g.100176068C>A	ENSP00000309689:p.Ala268Ser	Somatic	408	1		WXS	Illumina HiSeq	Phase_I	461	35	NM_002319	0	0	16	16	0	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	c	0.115	-1.133361	0.01756	.	.	ENSG00000077454	ENST00000310300	T	0.29917	1.55	5.19	3.32	0.38043	.	0.339915	0.30762	N	0.008934	T	0.16342	0.0393	N	0.24115	0.695	0.20638	N	0.999871	B	0.20164	0.042	B	0.19946	0.027	T	0.31280	-0.9949	10	0.07813	T	0.8	-4.3266	7.8558	0.29480	0.161:0.7528:0.0:0.0862	.	268	O75427	LRCH4_HUMAN	S	268	ENSP00000309689:A268S	ENSP00000309689:A268S	A	-	1	0	LRCH4	100014004	0.257000	0.24022	0.083000	0.20561	0.265000	0.26407	2.031000	0.41117	0.547000	0.28938	0.538000	0.68166	GCC	.		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	
DOCK5	80005	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	25224425	25224425	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:25224425A>G	ENST00000276440.7	+	31	3207	c.3163A>G	c.(3163-3165)Acc>Gcc	p.T1055A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1055					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCATTTCTCACCCATGAGTC	0.383																																					p.T1055A	Pancreas(145;34 1887 3271 10937 30165)												.	DOCK5-71	0			c.A3163G						.						99.0	91.0	94.0					8																	25224425		2203	4300	6503	SO:0001583	missense	80005	exon31			TTTCTCACCCATG		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3163A>G	8.37:g.25224425A>G	ENSP00000276440:p.Thr1055Ala	Somatic	87	0		WXS	Illumina HiSeq	Phase_I	53	5	NM_024940	0	0	0	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.59|18.59	3.657437|3.657437	0.67586|0.67586	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.25749	.|1.78	5.95|5.95	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35451|0.35451	0.0932|0.0932	M|M	0.73430|0.73430	2.235|2.235	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.28082	.|0.2;0.2;0.2	.|B;B;B	.|0.36030	.|0.167;0.216;0.167	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.72032	.|D	.|0.01	.|.	12.0589|12.0589	0.53550|0.53550	0.933:0.0:0.067:0.0|0.933:0.0:0.067:0.0	.|.	.|1045;830;1055	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	R|A	826|1055	.|ENSP00000276440:T1055A	.|ENSP00000276440:T1055A	H|T	+|+	2|1	0|0	DOCK5|DOCK5	25280342|25280342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.442000|7.442000	0.80503|0.80503	1.075000|1.075000	0.40932|0.40932	0.533000|0.533000	0.62120|0.62120	CAC|ACC	.		0.383	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
WHSC1L1	54904	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	38175506	38175506	+	Intron	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:38175506C>T	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.V636I|WHSC1L1_ENST00000527502.1_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCTGCGGAGACGGAGCTGTCA	0.537			T	NUP98	AML																																p.V636I		.		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	WHSC1L1-658	0			c.G1906A						.						90.0	82.0	85.0					8																	38175506		2203	4300	6503	SO:0001627	intron_variant	54904	exon10			CGGAGACGGAGCT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+906G>A	8.37:g.38175506C>T		Somatic	72	0		WXS	Illumina HiSeq	Phase_I	79	28	NM_017778	0	0	7	8	1	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835251	0.50951	.	.	ENSG00000147548	ENST00000316985	T	0.64438	-0.1	6.17	5.29	0.74685	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.21499	N	0.999666	B	0.14805	0.011	B	0.10450	0.005	T	0.33033	-0.9884	8	0.40728	T	0.16	.	11.9912	0.53176	0.0:0.9189:0.0:0.0811	.	636	Q9BZ95-3	.	I	636	ENSP00000313410:V636I	ENSP00000313410:V636I	V	-	1	0	WHSC1L1	38294663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.355000	0.44107	2.941000	0.99782	0.655000	0.94253	GTC	.		0.537	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
INTS8	55656	ucsc.edu	37	8	95884142	95884142	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:95884142A>G	ENST00000523731.1	+	21	2578	c.2445A>G	c.(2443-2445)gcA>gcG	p.A815A	INTS8_ENST00000447247.1_Silent_p.A815A	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	815					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGCTGTGGCAATCACAGTGA	0.343																																					p.A815A													.	INTS8-90	0			c.A2445G						.						112.0	106.0	108.0					8																	95884142		2203	4300	6503	SO:0001819	synonymous_variant	55656	exon21			TGTGGCAATCACA	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2445A>G	8.37:g.95884142A>G		Somatic	64	0		WXS	Illumina HiSeq		41	4	NM_017864	0	0	22	22	0	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384319	0.25031	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.57	-5.85	0.02311	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44605	-0.9317	4	.	.	.	-16.3704	1.5279	0.02529	0.1785:0.3688:0.1616:0.2912	.	.	.	.	R	637	.	.	Q	+	2	0	INTS8	95953318	0.394000	0.25246	0.989000	0.46669	0.989000	0.77384	-0.262000	0.08682	-0.448000	0.07128	-0.435000	0.05868	CAA	.		0.343	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
JAK2	3717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	5126752	5126752	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:5126752T>C	ENST00000381652.3	+	25	3854	c.3360T>C	c.(3358-3360)gcT>gcC	p.A1120A	JAK2_ENST00000539801.1_Silent_p.A1120A|JAK2_ENST00000544510.1_Silent_p.A971A|JAK2_ENST00000487310.1_3'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1120	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGGATCTAGCTCTTCGAGTGG	0.348		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.A1120A		.		Dom	yes		9	9p24	3717	Janus kinase 2		L	.	JAK2-75307	0			c.T3360C						.						79.0	74.0	76.0					9																	5126752		2203	4299	6502	SO:0001819	synonymous_variant	3717	exon25	Familial Cancer Database		TCTAGCTCTTCGA		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3360T>C	9.37:g.5126752T>C		Somatic	76	0		WXS	Illumina HiSeq	Phase_I	58	45	NM_004972	0	0	1	2	1	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																			.		0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
IFT74	80173	ucsc.edu	37	9	27055739	27055739	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:27055739C>T	ENST00000443698.1	+	17	1637	c.1466C>T	c.(1465-1467)gCt>gTt	p.A489V	IFT74_ENST00000433700.1_Missense_Mutation_p.A489V|IFT74_ENST00000380062.5_Missense_Mutation_p.A489V	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	489					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GATTTGCCAGCTTTAAAATCA	0.294																																					p.A489V													.	IFT74-515	0			c.C1466T						.						64.0	61.0	62.0					9																	27055739		1803	4063	5866	SO:0001583	missense	80173	exon17			TGCCAGCTTTAAA	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1466C>T	9.37:g.27055739C>T	ENSP00000404122:p.Ala489Val	Somatic	139	0		WXS	Illumina HiSeq		91	1	NM_001099222	0	0	23	25	2	Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115265	0.56505	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022	T;T;T	0.12672	2.66;2.66;2.66	5.24	4.32	0.51571	.	0.182103	0.45361	D	0.000363	T	0.19087	0.0458	M	0.62723	1.935	0.47123	D	0.999325	B	0.31548	0.328	B	0.36134	0.218	T	0.02059	-1.1221	10	0.30078	T	0.28	-3.3595	15.0187	0.71609	0.1437:0.8563:0.0:0.0	.	489	Q96LB3	IFT74_HUMAN	V	489	ENSP00000389224:A489V;ENSP00000404122:A489V;ENSP00000369402:A489V	ENSP00000369402:A489V	A	+	2	0	IFT74	27045739	1.000000	0.71417	0.842000	0.33263	0.948000	0.59901	4.045000	0.57368	1.152000	0.42452	0.563000	0.77884	GCT	.		0.294	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103	
DAPK1	1612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	90321821	90321821	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:90321821T>G	ENST00000408954.3	+	26	4170	c.3835T>G	c.(3835-3837)Ttc>Gtc	p.F1279V	DAPK1_ENST00000469640.2_Missense_Mutation_p.F1304V|DAPK1_ENST00000358077.5_Missense_Mutation_p.F1279V|DAPK1_ENST00000491893.1_Missense_Mutation_p.F1213V|DAPK1_ENST00000472284.1_Missense_Mutation_p.F1279V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1279					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAAGGAAAGCTTCAGCAGCAT	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.F1279V		.											.	DAPK1-359	0			c.T3835G						.						54.0	62.0	60.0					9																	90321821		2131	4237	6368	SO:0001583	missense	1612	exon26	Familial Cancer Database	Familial CLL	GAAAGCTTCAGCA	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3835T>G	9.37:g.90321821T>G	ENSP00000386135:p.Phe1279Val	Somatic	132	0		WXS	Illumina HiSeq	Phase_I	108	79	NM_004938	0	0	3	21	18	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723375	0.68959	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.63255	0.05;0.05;0.03;0.05;-0.03	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000040	T	0.77552	0.4147	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.987;0.996;0.987	T	0.77534	-0.2552	10	0.45353	T	0.12	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	1213;1279;1279	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	V	1279;1279;1304;1279;1213	ENSP00000350785:F1279V;ENSP00000417076:F1279V;ENSP00000418885:F1304V;ENSP00000386135:F1279V;ENSP00000419026:F1213V	ENSP00000350785:F1279V	F	+	1	0	DAPK1	89511641	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	2.285000	0.76669	0.533000	0.62120	TTC	.		0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
SPTAN1	6709	broad.mit.edu	37	9	131370209	131370209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:131370209G>T	ENST00000372731.4	+	33	4335	c.4225G>T	c.(4225-4227)Gga>Tga	p.G1409*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.G1409*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.G1409*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1409					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1409R(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTTGGCTCACGGACACTATGC	0.547																																					p.G1409X	NSCLC(120;833 1744 2558 35612 37579)												.	SPTAN1-158	1	Substitution - Missense(1)	large_intestine(1)	c.G4225T						.						78.0	74.0	75.0					9																	131370209		2203	4300	6503	SO:0001587	stop_gained	6709	exon33			GCTCACGGACACT	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4225G>T	9.37:g.131370209G>T	ENSP00000361816:p.Gly1409*	Somatic	120	0		WXS	Illumina HiSeq	Phase_I	134	5	NM_003127	0	0	54	54	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	42	9.687602	0.99238	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.54	4.65	0.58169	.	0.048617	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.7251	0.69339	0.0699:0.0:0.9301:0.0	.	.	.	.	X	1409;1409;1409;1389	.	ENSP00000350882:G1409X	G	+	1	0	SPTAN1	130410030	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	6.594000	0.74104	1.488000	0.48433	0.591000	0.81541	GGA	.		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
ABL1	25	ucsc.edu;bcgsc.ca	37	9	133738297	133738297	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:133738297G>A	ENST00000318560.5	+	4	1078	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	233					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCCCAACTACGACAAGTGGGA	0.577			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.D252N				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1-3810	0			c.G754A						.						131.0	104.0	113.0					9																	133738297		2203	4300	6503	SO:0001583	missense	25	exon4			AACTACGACAAGT	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.697G>A	9.37:g.133738297G>A	ENSP00000323315:p.Asp233Asn	Somatic	198	2		WXS	Illumina HiSeq		172	119	NM_007313	0	0	0	8	8	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.978409|5.978409	0.97168|0.97168	.|.	.|.	ENSG00000097007|ENSG00000097007	ENST00000372348;ENST00000318560|ENST00000444970	T;T|.	0.62232|.	0.04;0.04|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Protein kinase-like domain (1);SH2 motif (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85952|0.85952	0.5817|0.5817	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.986|.	D|D	0.87424|0.87424	0.2384|0.2384	10|6	0.87932|0.72032	D|D	0|0.01	.|.	19.6124|19.6124	0.95613|0.95613	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	233;270|.	P00519;Q59FK4|.	ABL1_HUMAN;.|.	N|Q	252;233|49	ENSP00000361423:D252N;ENSP00000323315:D233N|.	ENSP00000323315:D233N|ENSP00000400412:R49Q	D|R	+|+	1|2	0|0	ABL1|ABL1	132728118|132728118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.812000|9.812000	0.99227|0.99227	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAC|CGA	.		0.577	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
RAPGEF1	2889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	134505712	134505712	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:134505712C>T	ENST00000372189.3	-	6	724		c.e6-1		RAPGEF1_ENST00000372195.1_Splice_Site|RAPGEF1_ENST00000481260.1_Intron|RAPGEF1_ENST00000372190.3_Splice_Site	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1						activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGACCAGCTCCTACCCCCACA	0.592																																					.		.											.	RAPGEF1-849	0			c.601-1G>A						.						57.0	65.0	62.0					9																	134505712		2074	4208	6282	SO:0001630	splice_region_variant	2889	exon7			CAGCTCCTACCCC	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.601-1G>A	9.37:g.134505712C>T		Somatic	87	0		WXS	Illumina HiSeq	Phase_I	97	9	NM_005312	0	0	0	0	0	Q5JUE4|Q8IV73	Splice_Site	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006457	0.74932	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0057	0.80362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF1	133495533	1.000000	0.71417	0.996000	0.52242	0.758000	0.43043	6.814000	0.75236	2.549000	0.85964	0.655000	0.94253	.	.		0.592	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	Intron
WWC3	55841	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	10062249	10062249	+	Silent	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chrX:10062249A>T	ENST00000380861.4	+	7	976	c.585A>T	c.(583-585)gtA>gtT	p.V195V	WWC3_ENST00000454666.1_Silent_p.V195V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	195					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTCACCATGTAGGCGTGCCTG	0.577																																					p.V195V		.											.	WWC3-134	0			c.A585T						.						144.0	125.0	132.0					X																	10062249		2203	4300	6503	SO:0001819	synonymous_variant	55841	exon7			CCATGTAGGCGTG	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.585A>T	X.37:g.10062249A>T		Somatic	92	0		WXS	Illumina HiSeq	Phase_I	80	8	NM_015691	0	0	3	3	0	A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																			.		0.577	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	53584383	53584383	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chrX:53584383A>G	ENST00000342160.3	-	59	8623	c.8166T>C	c.(8164-8166)acT>acC	p.T2722T	MIR98_ENST00000606724.1_RNA|MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Silent_p.T2722T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2722					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTTAGATGCAGTACACTGCA	0.428																																					p.T2722T		.											.	HUWE1-280	0			c.T8166C						.						137.0	122.0	127.0					X																	53584383		2203	4300	6503	SO:0001819	synonymous_variant	10075	exon60			AGATGCAGTACAC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8166T>C	X.37:g.53584383A>G		Somatic	53	0		WXS	Illumina HiSeq	Phase_I	41	31	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	8.337	0.827732	0.16749	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.64	0.708	0.18144	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22695	-1.0209	4	.	.	.	.	3.0889	0.06286	0.3857:0.0:0.3048:0.3095	.	.	.	.	R	1756	.	.	C	-	1	0	HUWE1	53601108	0.001000	0.12720	0.177000	0.23020	0.915000	0.54546	0.717000	0.25851	0.266000	0.21894	0.486000	0.48141	TGC	.		0.428	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
NUP210L	91181	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	154033038	154033049	+	In_Frame_Del	DEL	ATGTAAGTGATG	ATGTAAGTGATG	-	rs368673993		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	ATGTAAGTGATG	ATGTAAGTGATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:154033038_154033049delATGTAAGTGATG	ENST00000368559.3	-	20	2888_2899	c.2817_2828delCATCACTTACAT	c.(2815-2829)accatcacttacatg>acg	p.ITYM940del	NUP210L_ENST00000271854.3_In_Frame_Del_p.ITYM940del	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	940					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCTGCTTCCATGTAAGTGATGGTGACAACAC	0.415																																					p.939_943del		.											.	NUP210L-77	0			c.2817_2828del						.																																			SO:0001651	inframe_deletion	91181	exon20			.	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2817_2828delCATCACTTACAT	1.37:g.154033038_154033049delATGTAAGTGATG	ENSP00000357547:p.Ile940_Met943del	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	64	14	NM_001159484	0	0	0	0	0	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	In_Frame_Del	DEL	ENST00000368559.3	37	CCDS41399.1																																																																																			.		0.415	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
RGSL1	353299	hgsc.bcm.edu;bcgsc.ca	37	1	182462175	182462194	+	Frame_Shift_Del	DEL	TTGAGGAGCTTTGCTACAAG	TTGAGGAGCTTTGCTACAAG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TTGAGGAGCTTTGCTACAAG	TTGAGGAGCTTTGCTACAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:182462175_182462194delTTGAGGAGCTTTGCTACAAG	ENST00000294854.8	+	9	1756_1775	c.1736_1755delTTGAGGAGCTTTGCTACAAG	c.(1735-1755)tttgaggagctttgctacaagfs	p.FEELCYK579fs	RGSL1_ENST00000542961.1_Frame_Shift_Del_p.FEELCYK614fs	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	579					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						AAAATGTCCTTTGAGGAGCTTTGCTACAAGAACCCAAAGA	0.368																																					p.579_585del	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.1736_1755del						.																																			SO:0001589	frameshift_variant	353299	exon9			.	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1736_1755delTTGAGGAGCTTTGCTACAAG	1.37:g.182462175_182462194delTTGAGGAGCTTTGCTACAAG	ENSP00000457748:p.Phe579fs	Somatic	84	0		WXS	Illumina HiSeq	Phase_I	45	11	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Frame_Shift_Del	DEL	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.368	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
SYT2	127833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	202566051	202566052	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:202566051_202566052delAG	ENST00000367267.1	-	9	1285_1286	c.1093_1094delCT	c.(1093-1095)ctgfs	p.L365fs	SYT2_ENST00000367268.4_Frame_Shift_Del_p.L365fs	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	365	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTTCTTGCCCAGCTTGTCATAG	0.584																																					p.365_365del		.											.	SYT2-93	0			c.1093_1094del						.																																			SO:0001589	frameshift_variant	127833	exon9			.	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1093_1094delCT	1.37:g.202566051_202566052delAG	ENSP00000356236:p.Leu365fs	Somatic	134	0		WXS	Illumina HiSeq	Phase_I	122	32	NM_177402	0	0	0	0	0	Q496K5|Q8NBE5	Frame_Shift_Del	DEL	ENST00000367267.1	37	CCDS1427.1																																																																																			.		0.584	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
OAT	4942	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	126100644	126100644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:126100644delT	ENST00000368845.5	-	2	189	c.97delA	c.(97-99)acafs	p.T33fs	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	33					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CCTTGGACTGTTTTTTTAGTT	0.433																																					p.T33fs		.											.	OAT-68	0			c.97delA						.						88.0	81.0	83.0					10																	126100644		2203	4300	6503	SO:0001589	frameshift_variant	4942	exon2			.	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.97delA	10.37:g.126100644delT	ENSP00000357838:p.Thr33fs	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	96	27	NM_000274	0	0	0	0	0	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Frame_Shift_Del	DEL	ENST00000368845.5	37	CCDS7639.1																																																																																			.		0.433	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274	
NUMA1	4926	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	71733436	71733436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:71733436delG	ENST00000393695.3	-	7	652	c.321delC	c.(319-321)accfs	p.T107fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.T107fs|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.T107fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGAGCTCATGGTAGAGTGGT	0.517			T	RARA	APL																																p.T107fs		.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1-633	0			c.321delC						.						155.0	158.0	157.0					11																	71733436		2200	4293	6493	SO:0001589	frameshift_variant	4926	exon7			.	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.321delC	11.37:g.71733436delG	ENSP00000377298:p.Thr107fs	Somatic	85	0		WXS	Illumina HiSeq	Phase_I	68	21	NM_006185	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000393695.3	37	CCDS31633.1																																																																																			.		0.517	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
GRWD1	83743	hgsc.bcm.edu	37	19	48953775	48953775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:48953775delG	ENST00000253237.5	+	4	907	c.674delG	c.(673-675)cggfs	p.R225fs		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	225						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTCCCCCCGGGTGACCGGT	0.667																																					p.R225fs		.											.	GRWD1-91	0			c.674delG						.						34.0	37.0	36.0					19																	48953775		2203	4300	6503	SO:0001589	frameshift_variant	83743	exon4			.	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.674delG	19.37:g.48953775delG	ENSP00000253237:p.Arg225fs	Somatic	51	0		WXS	Illumina HiSeq	Phase_I	54	12	NM_031485	0	0	0	0	0	Q8TF59	Frame_Shift_Del	DEL	ENST00000253237.5	37	CCDS12720.1																																																																																			.		0.667	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485	
DNMT3A	1788	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	25505312	25505312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:25505312delG	ENST00000264709.3	-	4	783	c.446delC	c.(445-447)gcgfs	p.A149fs	DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.A149fs|DNMT3A_ENST00000406659.3_Frame_Shift_Del_p.A149fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	149					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACCCGCTTCTGCAGG	0.637			"""Mis, F, N, S"""		AML																																p.A149fs		.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A-1924	0			c.446delC						.						14.0	17.0	16.0					2																	25505312		2202	4299	6501	SO:0001589	frameshift_variant	1788	exon4			.		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.446delC	2.37:g.25505312delG	ENSP00000264709:p.Ala149fs	Somatic	115	0		WXS	Illumina HiSeq	Phase_I	146	67	NM_175630	0	0	0	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	ENST00000264709.3	37	CCDS33157.1																																																																																			.		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
LRP2	4036	broad.mit.edu	37	2	170096143	170096143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:170096143delA	ENST00000263816.3	-	26	4473	c.4188delT	c.(4186-4188)attfs	p.I1396fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1396	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGAGCCTAGAATATCACATT	0.438																																					p.I1396fs													.	LRP2-175	0			c.4188delT						.						145.0	138.0	141.0					2																	170096143		2203	4300	6503	SO:0001589	frameshift_variant	4036	exon26			GCCTAGAATATCA		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4188delT	2.37:g.170096143delA	ENSP00000263816:p.Ile1396fs	Somatic	197	0		WXS	Illumina HiSeq	Phase_I	213	15	NM_004525	0	0	0	0	0	O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	37	CCDS2232.1																																																																																			.		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
MYH7B	57644	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	33567508	33567512	+	Frame_Shift_Del	DEL	TCGCT	TCGCT	-	rs539864476|rs572570454	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TCGCT	TCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:33567508_33567512delTCGCT	ENST00000262873.7	+	5	461_465	c.369_373delTCGCT	c.(367-375)cctcgcttcfs	p.RF124fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAACCCGCCTCGCTTCGACTTACT	0.629																																					p.123_125del		.											.	MYH7B-136	0			c.369_373del						.																																			SO:0001589	frameshift_variant	57644	exon7			.	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.369_373delTCGCT	20.37:g.33567508_33567512delTCGCT	ENSP00000262873:p.Arg124fs	Somatic	81	0		WXS	Illumina HiSeq	Phase_I	76	29	NM_020884	0	0	0	0	0	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Frame_Shift_Del	DEL	ENST00000262873.7	37	CCDS42869.1																																																																																			.		0.629	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
DIP2A	23181	hgsc.bcm.edu;bcgsc.ca	37	21	47985760	47985761	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:47985760_47985761delTG	ENST00000417564.2	+	36	4320_4321	c.4299_4300delTG	c.(4297-4302)cttggcfs	p.G1434fs	DIP2A_ENST00000318711.7_Frame_Shift_Del_p.G1435fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.G1430fs|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1434					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGCTACCTTGGCTTCCTTCG	0.614																																					p.1433_1434del		.											.	DIP2A-24	0			c.4299_4300del						.																																			SO:0001589	frameshift_variant	23181	exon36			.	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4299_4300delTG	21.37:g.47985760_47985761delTG	ENSP00000392066:p.Gly1434fs	Somatic	139	0		WXS	Illumina HiSeq	Phase_I	117	27	NM_015151	0	0	0	0	0	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Del	DEL	ENST00000417564.2	37	CCDS46655.1																																																																																			.		0.614	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																					p.651_659del		.											.	NEFH-90	0			c.1952_1975del						.																																			SO:0001651	inframe_deletion	4744	exon4			.		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del	Somatic	410	0		WXS	Illumina HiSeq	Phase_I	231	40	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
FAT1	2195	bcgsc.ca	37	4	187628814	187628818	+	Frame_Shift_Del	DEL	CCAGT	CCAGT	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	CCAGT	CCAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:187628814_187628818delCCAGT	ENST00000441802.2	-	2	2373_2377	c.2164_2168delACTGG	c.(2164-2169)actggtfs	p.TG722fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	722	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TACCTGAATACCAGTCGGAAGAGTG	0.444										HNSCC(5;0.00058)																											p.722_723del	Colon(197;1040 2055 4143 4984 49344)												.	FAT1-34	0			c.2164_2168del						.																																			SO:0001589	frameshift_variant	2195	exon2			TGAATACCAGTCG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2164_2168delACTGG	4.37:g.187628814_187628818delCCAGT	ENSP00000406229:p.Thr722fs	Somatic	119	0		WXS	Illumina HiSeq	Phase_1	77	6	NM_005245	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																			.		0.444	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
IGF2R	3482	hgsc.bcm.edu;bcgsc.ca	37	6	160494272	160494272	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:160494272delG	ENST00000356956.1	+	34	4866	c.4718delG	c.(4717-4719)agcfs	p.S1573fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1573					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACCAGGATTAGCGTGGGCAAG	0.547																																					p.S1573fs		.											.	IGF2R-118	0			c.4718delG						.						146.0	128.0	134.0					6																	160494272		2203	4300	6503	SO:0001589	frameshift_variant	3482	exon34			.	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4718delG	6.37:g.160494272delG	ENSP00000349437:p.Ser1573fs	Somatic	248	0		WXS	Illumina HiSeq	Phase_I	226	54	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
KIF13B	23303	broad.mit.edu;bcgsc.ca	37	8	28984648	28984650	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:28984648_28984650delCTC	ENST00000524189.1	-	25	3249_3251	c.3211_3213delGAG	c.(3211-3213)gagdel	p.E1071del	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1071					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGGAAGGTCTCATGTGTTCTG	0.424																																					p.1071_1071del													.	KIF13B-22	0			c.3211_3213del						.																																			SO:0001651	inframe_deletion	23303	exon25			GAAGGTCTCATGT	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3211_3213delGAG	8.37:g.28984648_28984650delCTC	ENSP00000427900:p.Glu1071del	Somatic	128	0		WXS	Illumina HiSeq	Phase_I	99	0	NM_015254	0	0	0	0	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	In_Frame_Del	DEL	ENST00000524189.1	37	CCDS55217.1																																																																																			.		0.424	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
KIF13B	23303	broad.mit.edu;bcgsc.ca	37	8	28984652	28984654	+	In_Frame_Del	DEL	TGT	TGT	-	rs536929811		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:28984652_28984654delTGT	ENST00000524189.1	-	25	3245_3247	c.3207_3209delACA	c.(3205-3210)acacat>act	p.H1070del	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1070					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GAAGGTCTCATGTGTTCTGGGGG	0.429																																					p.1069_1070del													.	KIF13B-22	0			c.3207_3209del						.																																			SO:0001651	inframe_deletion	23303	exon25			GTCTCATGTGTTC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3207_3209delACA	8.37:g.28984652_28984654delTGT	ENSP00000427900:p.His1070del	Somatic	127	0		WXS	Illumina HiSeq	Phase_I	99	10	NM_015254	0	0	0	0	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	In_Frame_Del	DEL	ENST00000524189.1	37	CCDS55217.1																																																																																			.		0.429	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
EFHD1	80303	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	233498655	233498656	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:233498655_233498656insAC	ENST00000264059.3	+	1	718_719	c.241_242insAC	c.(241-243)tacfs	p.Y81fs	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	81					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CTTCAACCCCTACACGGAGTTC	0.708																																					p.Y81fs		.											.	EFHD1-90	0			c.241_242insAC						.																																			SO:0001589	frameshift_variant	80303	exon1			.		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.244_245dupAC	2.37:g.233498658_233498659dupAC	ENSP00000264059:p.Tyr81fs	Somatic	22	0		WXS	Illumina HiSeq	Phase_I	28	13	NM_025202	0	0	0	0	0	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Frame_Shift_Ins	INS	ENST00000264059.3	37	CCDS2497.1																																																																																			.		0.708	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202	
CNTN4	152330	broad.mit.edu	37	3	3080674	3080675	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:3080674_3080675insTA	ENST00000397461.1	+	18	2534_2535	c.2150_2151insTA	c.(2149-2154)gttatafs	p.VI717fs	CNTN4_ENST00000397459.2_Frame_Shift_Ins_p.VI389fs|CNTN4_ENST00000427331.1_Frame_Shift_Ins_p.VI717fs|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Frame_Shift_Ins_p.VI389fs|CNTN4_ENST00000358480.3_Frame_Shift_Ins_p.VI498fs|CNTN4_ENST00000418658.1_Frame_Shift_Ins_p.VI717fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	717	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTGAACTGGTTATAACCTGGG	0.45																																					p.V717fs													.	CNTN4-344	0			c.2150_2151insTA						.																																			SO:0001589	frameshift_variant	152330	exon19			AACTGGTTATAAC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2153_2154dupTA	3.37:g.3080677_3080678dupTA	ENSP00000380602:p.Val717fs	Somatic	153	0		WXS	Illumina HiSeq	Phase_I	158	10	NM_175607	0	0	0	0	0	B2RAX3|Q8IX14|Q8TC35	Frame_Shift_Ins	INS	ENST00000397461.1	37	CCDS43041.1																																																																																			.		0.450	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
ZNF615	284370	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52496371	52496372	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:52496371_52496372GC>AT	ENST00000602063.1	-	6	2306_2307	c.1957_1958GC>AT	c.(1957-1959)GCa>ATa	p.A653I	ZNF615_ENST00000598071.1_Missense_Mutation_p.A664I|ZNF615_ENST00000594083.1_Missense_Mutation_p.A664I|ZNF615_ENST00000376716.5_Missense_Mutation_p.A653I|ZNF615_ENST00000391795.3_Missense_Mutation_p.A658I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	653					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCAGTACATGCAAAGGAAGTC	0.406																																					p.A663I		.											.	ZNF615-95	0			c.G1957A						.																																			SO:0001583	missense	284370	exon6			TACATGCAAAGGA	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1957_1958delinsAT	19.37:g.52496371_52496372delinsAT	ENSP00000473089:p.Ala653Ile	Somatic	144.0	0.0		WXS	Illumina HiSeq	Phase_I	134.0	41.0	NM_198480	0	0	0	0	0	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	DNP	ENST00000602063.1	37	CCDS12846.1																																																																																			.		0.406	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
