#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPAG17	200162	broad.mit.edu	37	1	118512703	118512703	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:118512703C>T	ENST00000336338.5	-	46	6428	c.6363G>A	c.(6361-6363)ctG>ctA	p.L2121L	SPAG17_ENST00000492438.1_5'Flank	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2121						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGTCACTTTCAGTCCTGTGC	0.413																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(6361-6363)ctG>ctA		sperm associated antigen 17							159.0	157.0	157.0					1																	118512703		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118512703C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6363G>A	1.37:g.118512703C>T							p.L2121L	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	46	6428	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	2121					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.6363G>A	CCDS899.1																																																																																				0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		9	34	0	0	0	1	0	9	34				
TTBK1	84630	broad.mit.edu	37	6	43222821	43222821	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:43222821G>A	ENST00000259750.4	+	7	694	c.611G>A	c.(610-612)cGc>cAc	p.R204H	TTBK1_ENST00000304139.5_Missense_Mutation_p.R153H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGAACGGTTCGCTATGCCTCA	0.617																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(610-612)cGc>cAc		tau tubulin kinase 1							132.0	101.0	111.0					6																	43222821		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222821G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.611G>A	6.37:g.43222821G>A	ENSP00000259750:p.Arg204His					TTBK1_ENST00000304139.5_Missense_Mutation_p.R153H	p.R204H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		7	694	+			204			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.611G>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165213	0.94768	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.06449	3.3	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.89414	3.03	0.58432	D	0.999993	D	0.89917	1.0	D	0.78314	0.991	T	0.10520	-1.0626	10	0.87932	D	0	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	204	Q5TCY1	TTBK1_HUMAN	H	153;204;153	ENSP00000259750:R204H	ENSP00000259750:R204H	R	+	2	0	TTBK1	43330799	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.377000	0.97184	2.242000	0.73789	0.655000	0.94253	CGC		0.617	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			12	38	0	0	0	1	0	12	38				
DCAF12L2	340578	broad.mit.edu	37	X	125299869	125299869	+	Silent	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:125299869C>A	ENST00000360028.2	-	1	65	c.39G>T	c.(37-39)gcG>gcT	p.A13A	DCAF12L2_ENST00000538699.1_Silent_p.A13A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	13										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGACCGCGGGCGCTTTCCGTT	0.751																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(37-39)gcG>gcT		DDB1 and CUL4 associated factor 12-like 2							10.0	12.0	11.0					X																	125299869		1952	3892	5844	SO:0001819	synonymous_variant	340578							g.chrX:125299869C>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.39G>T	X.37:g.125299869C>A						DCAF12L2_ENST00000360028.2_Silent_p.A13A	p.A13A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	119	-			13					B2RN42	Silent	SNP	ENST00000360028.2	37	c.39G>T	CCDS43991.1																																																																																				0.751	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		4	11	1	0	0.000602214	1	0.000619298	4	11				
COL4A3BP	10087	broad.mit.edu	37	5	74695169	74695169	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:74695169C>T	ENST00000405807.4	-	11	1575	c.1154G>A	c.(1153-1155)aGt>aAt	p.S385N	COL4A3BP_ENST00000261415.7_Intron|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.S513N	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	385					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCAGAGGCACTGACTAGATC	0.438																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(1537-1539)aGt>aAt		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							86.0	82.0	83.0					5																	74695169		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74695169C>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1154G>A	5.37:g.74695169C>T	ENSP00000383996:p.Ser385Asn					COL4A3BP_ENST00000261415.7_Intron|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S385N	p.S513N	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	12	1831	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	385			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.1538G>A	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906935	0.72868	.	.	ENSG00000113163	ENST00000405807;ENST00000380494	T;T	0.33216	1.47;1.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.967;0.996	P;D	0.75484	0.878;0.986	T	0.19451	-1.0305	10	0.32370	T	0.25	-6.7505	20.1346	0.98019	0.0:1.0:0.0:0.0	.	385;513	Q9Y5P4;Q9Y5P4-3	C43BP_HUMAN;.	N	385;513	ENSP00000383996:S385N;ENSP00000369862:S513N	ENSP00000369862:S513N	S	-	2	0	COL4A3BP	74730925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.587000	0.60991	2.765000	0.95021	0.655000	0.94253	AGT		0.438	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		9	31	0	0	0	1	0	9	31				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L	p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		34	85	0	0	0	1	0	34	85				
GRHL3	57822	broad.mit.edu	37	1	24663185	24663185	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:24663185G>A	ENST00000350501.5	+	4	607	c.480G>A	c.(478-480)gtG>gtA	p.V160V	GRHL3_ENST00000342072.4_Silent_p.V67V|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Silent_p.V165V|GRHL3_ENST00000356046.2_Silent_p.V114V|GRHL3_ENST00000361548.4_Silent_p.V160V	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	160			V -> A (in dbSNP:rs34637004).		central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCGGCTCTGTGGACAGCTACC	0.592																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(478-480)gtG>gtA		grainyhead-like 3 (Drosophila)																																				SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663185G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.480G>A	1.37:g.24663185G>A						GRHL3_ENST00000356046.2_Silent_p.V114V|GRHL3_ENST00000350501.5_Silent_p.V160V|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000342072.4_Silent_p.V67V|GRHL3_ENST00000236255.4_Silent_p.V165V	p.V160V	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	710	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	160		V -> A (in dbSNP:rs34637004).			A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.480G>A	CCDS252.2																																																																																				0.592	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		35	93	0	0	0	1	0	35	93				
IRF2	3660	broad.mit.edu	37	4	185310172	185310172	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:185310172T>C	ENST00000393593.3	-	9	997	c.790A>G	c.(790-792)Agc>Ggc	p.S264G		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	264					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCCATGTTGCTGAGGTACTGT	0.512																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(790-792)Agc>Ggc		interferon regulatory factor 2							212.0	177.0	189.0					4																	185310172		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310172T>C		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.790A>G	4.37:g.185310172T>C	ENSP00000377218:p.Ser264Gly						p.S264G	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	9	997	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	264					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.790A>G	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791874	0.50102	.	.	ENSG00000168310	ENST00000393593	D	0.82803	-1.65	5.31	5.31	0.75309	.	0.153991	0.46442	D	0.000290	T	0.77685	0.4167	L	0.40543	1.245	0.48901	D	0.999723	B	0.06786	0.001	B	0.08055	0.003	T	0.73232	-0.4048	10	0.44086	T	0.13	-3.8241	15.4318	0.75105	0.0:0.0:0.0:1.0	.	264	P14316	IRF2_HUMAN	G	264	ENSP00000377218:S264G	ENSP00000377218:S264G	S	-	1	0	IRF2	185547166	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.756000	0.68757	2.235000	0.73313	0.454000	0.30748	AGC		0.512	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			34	155	0	0	0	1	0	34	155				
NCKAP5	344148	broad.mit.edu	37	2	133542417	133542417	+	Missense_Mutation	SNP	C	C	T	rs377186508	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:133542417C>T	ENST00000409261.1	-	14	2340	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R656K|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	656										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTACAACTCTTTGCTGCTT	0.438																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1966-1968)aGa>aAa		NCK-associated protein 5							104.0	102.0	103.0					2																	133542417		1872	4104	5976	SO:0001583	missense	344148						protein binding	g.chr2:133542417C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1967G>A	2.37:g.133542417C>T	ENSP00000387128:p.Arg656Lys					NCKAP5_ENST00000317721.6_Missense_Mutation_p.R656K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.R656K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2340	-			656					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1967G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	14.54	2.565808	0.45694	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.38887	1.11;1.11	5.64	3.81	0.43845	.	0.167587	0.27572	U	0.018772	T	0.24699	0.0599	N	0.20986	0.625	0.80722	D	1	B	0.27625	0.183	B	0.30782	0.12	T	0.05750	-1.0866	10	0.20519	T	0.43	.	4.3947	0.11356	0.0:0.5981:0.1856:0.2163	.	656	O14513	NCKP5_HUMAN	K	656	ENSP00000387128:R656K;ENSP00000380603:R656K	ENSP00000380603:R656K	R	-	2	0	NCKAP5	133258887	0.999000	0.42202	0.996000	0.52242	0.995000	0.86356	1.694000	0.37752	0.901000	0.36495	0.651000	0.88453	AGA		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		18	35	0	0	0	1	0	18	35				
HSPA14	51182	broad.mit.edu	37	10	14909272	14909272	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:14909272C>G	ENST00000378372.3	+	11	1423	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	395					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ATAGAGTGTTCAGCCAGAGAT	0.343																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1183-1185)tCa>tGa		heat shock 70kDa protein 14							89.0	91.0	90.0					10																	14909272		2203	4300	6503	SO:0001587	stop_gained	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909272C>G	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1184C>G	10.37:g.14909272C>G	ENSP00000367623:p.Ser395*						p.S395*	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			11	1423	+			395					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Nonsense_Mutation	SNP	ENST00000378372.3	37	c.1184C>G	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	C	39	7.328142	0.98214	.	.	ENSG00000187522	ENST00000378372	.	.	.	6.03	6.03	0.97812	.	0.057377	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.087	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	395	.	ENSP00000367623:S395X	S	+	2	0	HSPA14	14949278	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.028000	0.57246	2.861000	0.98227	0.655000	0.94253	TCA		0.343	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		6	44	0	0	0	1	0	6	44				
CASP8	841	broad.mit.edu	37	2	202131229	202131229	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:202131229T>G	ENST00000432109.2	+	3	209	c.20T>G	c.(19-21)cTt>cGt	p.L7R	CASP8_ENST00000358485.4_Missense_Mutation_p.L66R|CASP8_ENST00000323492.7_Missense_Mutation_p.L7R|CASP8_ENST00000264274.9_Missense_Mutation_p.L7R|CASP8_ENST00000392259.2_Missense_Mutation_p.L7R|CASP8_ENST00000392266.3_Missense_Mutation_p.L7R|CASP8_ENST00000392258.3_Missense_Mutation_p.L7R|CASP8_ENST00000264275.5_Missense_Mutation_p.L7R	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	7	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGCAGAAATCTTTATGATATT	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(196-198)cTt>cGt		caspase 8, apoptosis-related cysteine peptidase							62.0	66.0	65.0					2																	202131229		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131229T>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.20T>G	2.37:g.202131229T>G	ENSP00000412523:p.Leu7Arg	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.L7R|CASP8_ENST00000392259.2_Missense_Mutation_p.L7R|CASP8_ENST00000392258.3_Missense_Mutation_p.L7R|CASP8_ENST00000432109.2_Missense_Mutation_p.L7R|CASP8_ENST00000392266.3_Missense_Mutation_p.L7R|CASP8_ENST00000264274.9_Missense_Mutation_p.L7R|CASP8_ENST00000264275.5_Missense_Mutation_p.L7R	p.L66R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	393	+			7			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.197T>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699218	0.68501	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.46	5.46	0.80206	DEATH-like (2);Death effector (3);	0.336378	0.27778	N	0.017893	D	0.96589	0.8887	H	0.94582	3.555	0.40354	D	0.979162	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998;1.0;0.999;0.998;1.0	D	0.98074	1.0400	10	0.87932	D	0	.	14.7119	0.69238	0.0:0.0:0.0:1.0	.	7;7;7;7;66;7;7;7;7	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	R	7;7;7;7;7;7;7;7;7;66;7;7;7;7	ENSP00000376091:L7R;ENSP00000264274:L7R;ENSP00000376088:L7R;ENSP00000376094:L7R;ENSP00000412523:L7R;ENSP00000264275:L7R;ENSP00000396869:L7R;ENSP00000376087:L7R;ENSP00000388306:L7R;ENSP00000351273:L66R;ENSP00000397528:L7R;ENSP00000325722:L7R;ENSP00000390641:L7R	ENSP00000264274:L7R	L	+	2	0	CASP8	201839474	0.999000	0.42202	0.062000	0.19696	0.002000	0.02628	5.961000	0.70356	2.047000	0.60756	0.533000	0.62120	CTT		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		19	48	0	0	0	1	0	19	48				
C10orf111	221060	broad.mit.edu	37	10	15138578	15138578	+	Silent	SNP	C	C	G	rs570532780	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:15138578C>G	ENST00000378207.3	-	2	519	c.246G>C	c.(244-246)gtG>gtC	p.V82V	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	82						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						GCCGCTTCATCACTTGTCCCC	0.507																																						ENST00000378207.3																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(244-246)gtG>gtC		chromosome 10 open reading frame 111							136.0	136.0	136.0					10																	15138578		2203	4300	6503	SO:0001819	synonymous_variant	221060					integral to membrane		g.chr10:15138578C>G	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.246G>C	10.37:g.15138578C>G							p.V82V	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN			2	519	-			82					B2RAC4	Silent	SNP	ENST00000378207.3	37	c.246G>C	CCDS7107.1																																																																																				0.507	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		25	65	0	0	0	1	0	25	65				
COL1A2	1278	broad.mit.edu	37	7	94057708	94057708	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:94057708C>A	ENST00000297268.6	+	50	4101	c.3630C>A	c.(3628-3630)aaC>aaA	p.N1210K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1210	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AACCTGAAAACATCCCAGCCA	0.478										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3628-3630)aaC>aaA		collagen, type I, alpha 2	Collagenase(DB00048)						110.0	106.0	108.0					7																	94057708		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057708C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3630C>A	7.37:g.94057708C>A	ENSP00000297268:p.Asn1210Lys	HNSCC(75;0.22)					p.N1210K	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		50	4101	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1210			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3630C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875944	0.33162	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.72394	-0.65	5.29	2.51	0.30379	Fibrillar collagen, C-terminal (3);	0.478469	0.26126	N	0.026190	T	0.48804	0.1520	N	0.11000	0.08	0.30304	N	0.789144	B	0.15141	0.012	B	0.18871	0.023	T	0.43245	-0.9403	10	0.32370	T	0.25	.	10.2173	0.43177	0.0:0.701:0.0:0.299	.	1210	P08123	CO1A2_HUMAN	K	1210;1211	ENSP00000297268:N1210K	ENSP00000297268:N1210K	N	+	3	2	COL1A2	93895644	0.936000	0.31750	0.001000	0.08648	0.620000	0.37586	1.659000	0.37387	0.442000	0.26555	-0.145000	0.13849	AAC		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		26	46	1	0	1.66031e-10	1	1.82382e-10	26	46				
NEB	4703	broad.mit.edu	37	2	152518695	152518695	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:152518695G>A	ENST00000172853.10	-	46	6071	c.5924C>T	c.(5923-5925)tCg>tTg	p.S1975L	NEB_ENST00000409198.1_Missense_Mutation_p.S1975L|NEB_ENST00000604864.1_Missense_Mutation_p.S1975L|NEB_ENST00000427231.2_Missense_Mutation_p.S1975L|NEB_ENST00000603639.1_Missense_Mutation_p.S1975L|NEB_ENST00000397345.3_Missense_Mutation_p.S1975L			P20929	NEBU_HUMAN	nebulin	1975					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGTTCATCGAGTCCATGAG	0.398																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5923-5925)tCg>tTg		nebulin							106.0	102.0	103.0					2																	152518695		1917	4124	6041	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152518695G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5924C>T	2.37:g.152518695G>A	ENSP00000172853:p.Ser1975Leu					NEB_ENST00000427231.2_Missense_Mutation_p.S1975L|NEB_ENST00000603639.1_Missense_Mutation_p.S1975L|NEB_ENST00000604864.1_Missense_Mutation_p.S1975L|NEB_ENST00000172853.10_Missense_Mutation_p.S1975L|NEB_ENST00000409198.1_Missense_Mutation_p.S1975L	p.S1975L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	46	6126	-			1975					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5924C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.540702	0.96474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.86	5.86	0.93980	.	0.066053	0.64402	D	0.000007	T	0.73721	0.3623	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74645	-0.3596	10	0.62326	D	0.03	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1975	P20929	NEBU_HUMAN	L	1975	ENSP00000386259:S1975L;ENSP00000380505:S1975L;ENSP00000416578:S1975L;ENSP00000172853:S1975L	ENSP00000172853:S1975L	S	-	2	0	NEB	152226941	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	5.333000	0.65917	2.937000	0.99478	0.650000	0.86243	TCG		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		15	30	0	0	0	1	0	15	30				
PCDHGB7	56099	broad.mit.edu	37	5	140799002	140799002	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:140799002C>A	ENST00000398594.2	+	1	1576	c.1576C>A	c.(1576-1578)Cgc>Agc	p.R526S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGCACCTTCGA	0.692																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1576-1578)Cgc>Agc									42.0	46.0	45.0					5																	140799002		2093	4207	6300	SO:0001583	missense	56099							g.chr5:140799002C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1576C>A	5.37:g.140799002C>A	ENSP00000381594:p.Arg526Ser					PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.R526S	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1576	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1576C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.019152	0.54576	.	.	ENSG00000254122	ENST00000398594	T	0.59502	0.26	5.38	4.5	0.54988	Cadherin (5);Cadherin-like (1);	0.254138	0.20293	U	0.095191	T	0.62454	0.2429	N	0.20574	0.59	0.21147	N	0.999779	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.58025	-0.7709	10	0.87932	D	0	.	13.2328	0.59953	0.3453:0.6547:0.0:0.0	.	526;526	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	S	526	ENSP00000381594:R526S	ENSP00000381594:R526S	R	+	1	0	PCDHGB7	140779186	0.020000	0.18652	1.000000	0.80357	0.790000	0.44656	0.798000	0.27014	1.237000	0.43756	0.491000	0.48974	CGC		0.692	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		18	54	1	0	4.96729e-08	1	5.41547e-08	18	54				
SERPINA7	6906	broad.mit.edu	37	X	105277537	105277537	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:105277537C>A	ENST00000327674.4	-	4	1537	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	SERPINA7_ENST00000372563.1_Missense_Mutation_p.R401M|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	401					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAGAATACTCCTTGTGCTTCT	0.403																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(1201-1203)aGg>aTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						179.0	181.0	181.0					X																	105277537		2203	4299	6502	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105277537C>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1202G>T	X.37:g.105277537C>A	ENSP00000329374:p.Arg401Met					SERPINA7_ENST00000372563.1_Missense_Mutation_p.R401M	p.R401M			P05543	THBG_HUMAN			4	1537	-			401					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.1202G>T	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388523	0.25118	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.88046	-2.33;-2.33	4.9	3.13	0.36017	Serpin domain (3);	0.391450	0.23937	N	0.043088	D	0.88786	0.6531	L	0.53249	1.67	0.09310	N	1	D	0.60160	0.987	D	0.63283	0.913	T	0.79690	-0.1698	10	0.66056	D	0.02	.	6.1037	0.20061	0.0:0.6787:0.0:0.3213	.	401	P05543	THBG_HUMAN	M	401	ENSP00000329374:R401M;ENSP00000361644:R401M	ENSP00000329374:R401M	R	-	2	0	SERPINA7	105164193	0.000000	0.05858	0.248000	0.24265	0.552000	0.35366	0.088000	0.14979	0.578000	0.29487	0.594000	0.82650	AGG		0.403	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		57	56	1	0	1.03172e-35	1	1.22623e-35	57	56				
MCC	4163	broad.mit.edu	37	5	112379227	112379227	+	Splice_Site	SNP	C	C	T	rs149948216		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:112379227C>T	ENST00000302475.4	-	15	2749	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	MCC_ENST00000408903.3_Splice_Site_p.R919Q|MCC_ENST00000515367.2_Splice_Site_p.R666Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	729					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGGTGCTTACCGACGAATGGC	0.562											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e15+1		mutated in colorectal cancers		C	GLN/ARG,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	101.0	65.0	77.0		2756,2186	5.2	1.0	5	dbSNP_134	77	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	MCC	NM_001085377.1,NM_002387.2	43,43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	919/1020,729/830	112379227	1,13003	2202	4300	6502	SO:0001630	splice_region_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112379227C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2186+1G>A	5.37:g.112379227C>T			OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1442	MCC_ENST00000408903.3_Splice_Site_p.R919_splice|MCC_ENST00000515367.2_Splice_Site_p.R666_splice|MCC_ENST00000514701.3_5'UTR	p.R729_splice	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	15	2749	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	729					D3DT05|Q6ZR04	Splice_Site	SNP	ENST00000302475.4	37	c.2186_splice	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215751	0.79352	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.54866	1.68;1.68;0.55	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.56920	0.2018	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.983	D;P	0.66847	0.947;0.885	T	0.55341	-0.8156	9	.	.	.	-9.7592	16.8402	0.85966	0.0:1.0:0.0:0.0	.	919;729	P23508-2;P23508	.;CRCM_HUMAN	Q	729;666;919	ENSP00000305617:R729Q;ENSP00000421615:R666Q;ENSP00000386227:R919Q	.	R	-	2	0	MCC	112407126	1.000000	0.71417	0.965000	0.40720	0.246000	0.25737	5.233000	0.65337	2.409000	0.81822	0.561000	0.74099	CGA		0.562	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	Missense_Mutation	8	16	0	0	0	1	0	8	16				
BICD2	23299	broad.mit.edu	37	9	95526892	95526892	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:95526892C>T	ENST00000375512.3	-	1	202	c.135G>A	c.(133-135)gaG>gaA	p.E45E	BICD2_ENST00000356884.6_Silent_p.E45E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	45					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGCCCGTACTCGGCCGCCT	0.662																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(133-135)gaG>gaA		bicaudal D homolog 2 (Drosophila)							19.0	15.0	17.0					9																	95526892		2196	4280	6476	SO:0001819	synonymous_variant	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95526892C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.135G>A	9.37:g.95526892C>T						BICD2_ENST00000375512.3_Silent_p.E45E	p.E45E	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			1	202	-			45					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	ENST00000375512.3	37	c.135G>A	CCDS6700.1																																																																																				0.662	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		3	9	0	0	0	1	0	3	9				
HRAS	3265	broad.mit.edu	37	11	533873	533873	+	Missense_Mutation	SNP	C	C	A	rs121913496		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:533873C>A	ENST00000451590.1	-	3	370	c.183G>T	c.(181-183)caG>caT	p.Q61H	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61H|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61H|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61H|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61H	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61H(20)|p.Q61R(4)|p.Q61Q(1)|p.Q61L(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTCCTCCTGGCCGGCGG	0.602	Q61H(RL952_ENDOMETRIUM)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61H(RL952_ENDOMETRIUM)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		26	Substitution - Missense(25)|Substitution - coding silent(1)	p.Q61H(20)|p.Q61R(4)|p.Q61Q(1)|p.Q61L(1)	skin(9)|prostate(5)|upper_aerodigestive_tract(4)|endometrium(4)|thyroid(3)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)caG>caT		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533873		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533873C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.183G>T	11.37:g.533873C>A	ENSP00000407586:p.Gln61His	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61H|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61H|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61H|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61H	p.Q61H	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	370	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.183G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390064	0.25118	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	3.64	-1.36	0.09085	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	M	0.93550	3.43	0.80722	D	1	B;B	0.22851	0.076;0.028	B;B	0.21917	0.03;0.037	T	0.77125	-0.2703	10	0.72032	D	0.01	.	9.9208	0.41464	0.0:0.61:0.0:0.39	.	61;61	P01112-2;P01112	.;RASH_HUMAN	H	61	ENSP00000380722:Q61H;ENSP00000380723:Q61H;ENSP00000407586:Q61H;ENSP00000388246:Q61H;ENSP00000309845:Q61H	ENSP00000309845:Q61H	Q	-	3	2	HRAS	523873	0.431000	0.25546	0.969000	0.41365	0.499000	0.33736	-0.195000	0.09546	-0.764000	0.04651	-1.134000	0.01955	CAG		0.602	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		34	83	1	0	3.93418e-24	1	4.63786e-24	34	83				
ITSN2	50618	broad.mit.edu	37	2	24471560	24471560	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:24471560G>A	ENST00000355123.4	-	27	3669	c.3226C>T	c.(3226-3228)Cca>Tca	p.P1076S	ITSN2_ENST00000361999.3_Missense_Mutation_p.P1049S|ITSN2_ENST00000406921.3_Missense_Mutation_p.P1076S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1076	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGTCCTGGTGCAAGGCTA	0.338																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(3226-3228)Cca>Tca		intersectin 2							44.0	44.0	44.0					2																	24471560		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24471560G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3226C>T	2.37:g.24471560G>A	ENSP00000347244:p.Pro1076Ser					ITSN2_ENST00000361999.3_Missense_Mutation_p.P1049S|ITSN2_ENST00000406921.3_Missense_Mutation_p.P1076S	p.P1076S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			27	3669	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1076			SH3 4.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.3226C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839115	0.71373	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.75	5.75	0.90469	Src homology-3 domain (4);	0.000000	0.31963	U	0.006784	T	0.56426	0.1984	M	0.64170	1.965	0.49389	D	0.999783	P;P;P	0.51933	0.949;0.903;0.921	P;B;P	0.47251	0.492;0.406;0.542	T	0.58205	-0.7677	10	0.56958	D	0.05	.	20.3312	0.98718	0.0:0.0:1.0:0.0	.	1076;1049;1076	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	S	1049;1076;1049;1076	ENSP00000354561:P1049S;ENSP00000347244:P1076S;ENSP00000370250:P1049S;ENSP00000384499:P1076S	ENSP00000347244:P1076S	P	-	1	0	ITSN2	24325064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.260000	0.58835	2.894000	0.99253	0.655000	0.94253	CCA		0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		3	18	0	0	0	1	0	3	18				
TNXB	7148	broad.mit.edu	37	6	32024589	32024589	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:32024589G>A	ENST00000375244.3	-	23	8118	c.7917C>T	c.(7915-7917)gcC>gcT	p.A2639A	TNXB_ENST00000375247.2_Silent_p.A2639A			P22105	TENX_HUMAN	tenascin XB	2699	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCAGGGGTGGCATCTGTCA	0.632																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7915-7917)gcC>gcT		tenascin XB							87.0	101.0	96.0					6																	32024589		1334	2580	3914	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32024589G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7917C>T	6.37:g.32024589G>A						TNXB_ENST00000375247.2_Silent_p.A2639A	p.A2639A			P22105	TENX_HUMAN			23	8118	-			2699			Fibronectin type-III 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.7917C>T																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		25	70	0	0	0	1	0	25	70				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	102	0	0	0	1	0	6	102				
PROL1	58503	broad.mit.edu	37	4	71275591	71275591	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:71275591C>T	ENST00000399575.2	+	3	720	c.546C>T	c.(544-546)atC>atT	p.I182I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	182	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CAGTACCTATCTCTTCAACAC	0.498																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(544-546)atC>atT		proline rich, lacrimal 1							160.0	178.0	172.0					4																	71275591		2094	4231	6325	SO:0001819	synonymous_variant	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275591C>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.546C>T	4.37:g.71275591C>T						PROL1_ENST00000514338.1_3'UTR	p.I182I	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	720	+		all_hematologic(202;0.196)	182			Thr-rich.		A8MZ07|P85047	Silent	SNP	ENST00000399575.2	37	c.546C>T	CCDS43235.1																																																																																				0.498	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		27	69	0	0	0	1	0	27	69				
POU6F2	11281	broad.mit.edu	37	7	39500196	39500196	+	Nonsense_Mutation	SNP	C	C	T	rs145241880		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:39500196C>T	ENST00000403058.1	+	10	1607	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	POU6F2_ENST00000518318.2_Nonsense_Mutation_p.R485*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.R430*	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	485	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAGGAGATCCGAGAATTTGC	0.532																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1453-1455)Cga>Tga		POU class 6 homeobox 2							58.0	51.0	53.0					7																	39500196		2203	4300	6503	SO:0001587	stop_gained	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500196C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1453C>T	7.37:g.39500196C>T	ENSP00000384004:p.Arg485*					POU6F2_ENST00000403058.1_Nonsense_Mutation_p.R485*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.R430*	p.R485*			P78424	PO6F2_HUMAN			9	1495	+			485			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Nonsense_Mutation	SNP	ENST00000403058.1	37	c.1453C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	38	7.271541	0.98179	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3555	0.94410	0.0:1.0:0.0:0.0	.	.	.	.	X	485	.	ENSP00000384004:R485X	R	+	1	2	POU6F2	39466721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.572000	0.86782	0.511000	0.50034	CGA		0.532	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		6	17	0	0	0	1	0	6	17				
TMEM110	375346	broad.mit.edu	37	3	52878919	52878919	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:52878919C>A	ENST00000355083.5	-	5	611	c.466G>T	c.(466-468)Gct>Tct	p.A156S	TMEM110_ENST00000464769.1_5'Flank|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.A156S	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	156						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATGTAAAGAGCGCACTGCCCG	0.537																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(466-468)Gct>Tct		transmembrane protein 110							107.0	94.0	99.0					3																	52878919		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52878919C>A	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.466G>T	3.37:g.52878919C>A	ENSP00000347195:p.Ala156Ser					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.A156S	p.A156S	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	5	611	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.466G>T	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831298	0.50845	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.41	5.41	0.78517	.	0.150584	0.45606	U	0.000344	T	0.59622	0.2207	L	0.35854	1.095	0.50313	D	0.999862	B;D	0.56968	0.046;0.978	B;P	0.56127	0.048;0.792	T	0.52953	-0.8506	9	0.21540	T	0.41	-4.5451	14.4282	0.67230	0.0:0.9275:0.0:0.0725	.	156;156	Q86TL2;A8MSY1	TM110_HUMAN;.	S	156	.	ENSP00000347195:A156S	A	-	1	0	TMEM110-MUSTN1;TMEM110	52853959	0.999000	0.42202	0.604000	0.28916	0.995000	0.86356	2.972000	0.49256	2.549000	0.85964	0.561000	0.74099	GCT		0.537	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		13	65	1	0	0.00244969	1	0.00250145	13	65				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	36	0	0	0	1	0	4	36				
KIAA2022	340533	broad.mit.edu	37	X	73963134	73963134	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:73963134G>T	ENST00000055682.6	-	3	1869	c.1258C>A	c.(1258-1260)Caa>Aaa	p.Q420K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	420					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCTTAAGTTGCTCTACTTCA	0.423																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1258-1260)Caa>Aaa		KIAA2022							204.0	170.0	182.0					X																	73963134		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963134G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1258C>A	X.37:g.73963134G>T	ENSP00000055682:p.Gln420Lys					KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q420K	p.Q420K			Q5QGS0	K2022_HUMAN			3	1909	-			420					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1258C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108682	0.06924	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.30714	1.52;1.52	6.03	4.08	0.47627	.	0.315387	0.23327	N	0.049384	T	0.27241	0.0668	L	0.44542	1.39	0.39415	D	0.966813	B	0.12013	0.005	B	0.09377	0.004	T	0.06862	-1.0803	10	0.38643	T	0.18	-0.8449	13.5915	0.61964	0.0:0.11:0.7597:0.1302	.	420	Q5QGS0	K2022_HUMAN	K	420	ENSP00000362567:Q420K;ENSP00000055682:Q420K	ENSP00000055682:Q420K	Q	-	1	0	KIAA2022	73879859	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	4.786000	0.62425	1.286000	0.44565	0.600000	0.82982	CAA		0.423	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		42	38	1	0	3.43241e-23	1	4.01371e-23	42	38				
GRIN3A	116443	broad.mit.edu	37	9	104499889	104499889	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:104499889G>A	ENST00000361820.3	-	1	973	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	125					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGGGCGTCCCGTGGCCACAGG	0.697																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(373-375)Cgg>Tgg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						33.0	33.0	33.0					9																	104499889		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499889G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.373C>T	9.37:g.104499889G>A	ENSP00000355155:p.Arg125Trp						p.R125W	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			1	973	-		Acute lymphoblastic leukemia(62;0.0568)	125					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.373C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317661	0.60524	.	.	ENSG00000198785	ENST00000361820	T	0.22539	1.95	5.12	2.12	0.27331	.	0.384850	0.23799	N	0.044446	T	0.38374	0.1038	L	0.50333	1.59	0.48762	D	0.999704	D	0.89917	1.0	D	0.73708	0.981	T	0.23226	-1.0194	10	0.87932	D	0	.	13.884	0.63698	0.0:0.0:0.4715:0.5285	.	125	Q8TCU5	NMD3A_HUMAN	W	125	ENSP00000355155:R125W	ENSP00000355155:R125W	R	-	1	2	GRIN3A	103539710	0.944000	0.32072	0.974000	0.42286	0.949000	0.60115	1.339000	0.33885	0.551000	0.29008	-0.152000	0.13540	CGG		0.697	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			5	29	0	0	0	1	0	5	29				
L3MBTL4	91133	broad.mit.edu	37	18	6263958	6263958	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr18:6263958C>A	ENST00000284898.6	-	5	407	c.207G>T	c.(205-207)gaG>gaT	p.E69D	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.E69D|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E69D|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E69D	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	69					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGAAAACAGCTCAACAGGTG	0.453																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(205-207)gaG>gaT		l(3)mbt-like 4 (Drosophila)							83.0	85.0	84.0					18																	6263958		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6263958C>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.207G>T	18.37:g.6263958C>A	ENSP00000284898:p.Glu69Asp					L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E69D|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E69D|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E69D	p.E69D			Q8NA19	LMBL4_HUMAN			5	407	-		Colorectal(10;0.0249)	69					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.207G>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228231	0.22542	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.04	-5.96	0.02234	.	0.534648	0.18020	N	0.154267	T	0.69024	0.3065	N	0.22421	0.69	0.51767	D	0.999932	B	0.18610	0.029	B	0.17098	0.017	T	0.39165	-0.9627	10	0.18276	T	0.48	.	11.8438	0.52371	0.0:0.5682:0.0:0.4318	.	69	Q8NA19	LMBL4_HUMAN	D	69	ENSP00000382976:E69D;ENSP00000318543:E69D;ENSP00000284898:E69D;ENSP00000382975:E69D	ENSP00000284898:E69D	E	-	3	2	L3MBTL4	6253958	0.593000	0.26840	0.318000	0.25279	0.835000	0.47333	-0.092000	0.11129	-1.239000	0.02532	-0.781000	0.03364	GAG		0.453	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		7	48	1	0	2.17888e-05	1	2.30611e-05	7	48				
NOTCH1	4851	broad.mit.edu	37	9	139413161	139413161	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:139413161C>G	ENST00000277541.6	-	6	1056	c.981G>C	c.(979-981)tgG>tgC	p.W327C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	327	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCACCAGTCCAGCCGTTGA	0.617			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(979-981)tgG>tgC		notch 1							61.0	68.0	65.0					9																	139413161		2201	4299	6500	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413161C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.981G>C	9.37:g.139413161C>G	ENSP00000277541:p.Trp327Cys	HNSCC(8;0.001)					p.W327C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1056	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	327			EGF-like 8; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.981G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080982	0.76528	.	.	ENSG00000148400	ENST00000277541	D	0.92858	-3.12	5.3	4.4	0.53042	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96341	0.9251	10	0.87932	D	0	.	12.5135	0.56019	0.0:0.9183:0.0:0.0817	.	327	P46531	NOTC1_HUMAN	C	327	ENSP00000277541:W327C	ENSP00000277541:W327C	W	-	3	0	NOTCH1	138532982	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.526000	0.81920	1.238000	0.43771	0.561000	0.74099	TGG		0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		52	14	0	0	0	1	0	52	14				
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	T	rs121913351		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:140481411C>T	ENST00000288602.6	-	11	1457	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> E (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> V (in LNCR). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCCAAATGATCCAGATCCAAT	0.378	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	21	Substitution - Missense(21)	p.G466V(15)|p.G466E(5)|p.G466A(1)	lung(10)|skin(7)|ovary(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1396-1398)gGa>gAa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						173.0	148.0	156.0					7																	140481411		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481411C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1397G>A	7.37:g.140481411C>T	ENSP00000288602:p.Gly466Glu						p.G466E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1457	-	Melanoma(164;0.00956)		466		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1397G>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.946330|4.946330	0.92593|0.92593	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99930	.|-8.16	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.100477	.|0.64402	.|D	.|0.000002	D|D	0.99943|0.99943	0.9975|0.9975	H|H	0.97023|0.97023	3.925|3.925	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70487	.|0.969	D|D	0.96203|0.96203	0.9147|0.9147	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|466	.|P15056	.|BRAF_HUMAN	N|E	74|466	.|ENSP00000288602:G466E	.|ENSP00000288602:G466E	D|G	-|-	1|2	0|0	BRAF|BRAF	140127880|140127880	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.983000|0.983000	0.72400|0.72400	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAT|GGA		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	84	0	0	0	1	0	30	84				
NINL	22981	broad.mit.edu	37	20	25436366	25436366	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr20:25436366C>A	ENST00000278886.6	-	23	3973	c.3900G>T	c.(3898-3900)atG>atT	p.M1300I	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.M951I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1300					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCTTCAGAATCATCTCCGCCT	0.517																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3898-3900)atG>atT		ninein-like							300.0	289.0	293.0					20																	25436366		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436366C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3900G>T	20.37:g.25436366C>A	ENSP00000278886:p.Met1300Ile					NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.M951I	p.M1300I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	3973	-			1300					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3900G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	0.615	-0.823341	0.02755	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.30981	1.51;1.51	5.02	-3.21	0.05140	.	1.175160	0.06067	N	0.659506	T	0.19525	0.0469	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31519	0.002;0.327;0.074	B;B;B	0.35240	0.002;0.198;0.026	T	0.26155	-1.0111	10	0.19147	T	0.46	-0.4014	4.4234	0.11492	0.2394:0.4207:0.0:0.3399	.	951;1300;91	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	I	1300;951	ENSP00000278886:M1300I;ENSP00000410431:M951I	ENSP00000278886:M1300I	M	-	3	0	NINL	25384366	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.690000	0.37711	-0.824000	0.04295	-0.469000	0.05056	ATG		0.517	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		50	191	1	0	2.48909e-17	1	2.86443e-17	50	191				
PRUNE2	158471	broad.mit.edu	37	9	79318958	79318958	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:79318958G>T	ENST00000376718.3	-	9	7694	c.7571C>A	c.(7570-7572)cCt>cAt	p.P2524H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P2165H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2524					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATCTGCTCAGGCTCTTTGGT	0.373																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6493-6495)cCt>cAt		prune homolog 2 (Drosophila)							173.0	161.0	165.0					9																	79318958		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318958G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7571C>A	9.37:g.79318958G>T	ENSP00000365908:p.Pro2524His					PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2524H	p.P2165H			Q8WUY3	PRUN2_HUMAN			9	7694	-			2524					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6494C>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	6.488	0.458184	0.12342	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.54479	0.57;0.59	5.76	2.83	0.33086	.	0.582217	0.16817	N	0.198307	T	0.45796	0.1360	M	0.62723	1.935	0.19300	N	0.999978	B	0.18741	0.03	B	0.20184	0.028	T	0.37911	-0.9685	10	0.38643	T	0.18	-1.6432	6.2059	0.20602	0.1539:0.0:0.6972:0.149	.	2524	Q8WUY3	PRUN2_HUMAN	H	2524;2165;2523	ENSP00000365908:P2524H;ENSP00000397425:P2165H	ENSP00000365908:P2524H	P	-	2	0	PRUNE2	78508778	0.994000	0.37717	0.008000	0.14137	0.101000	0.19017	1.903000	0.39858	0.796000	0.33947	0.655000	0.94253	CCT		0.373	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		16	114	1	0	2.62699e-14	1	2.97588e-14	16	114				
PDZD2	23037	broad.mit.edu	37	5	31983414	31983414	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:31983414G>A	ENST00000438447.1	+	3	1018	c.630G>A	c.(628-630)gcG>gcA	p.A210A	PDZD2_ENST00000282493.3_Silent_p.A210A			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCGAACTGCGAAAAAGGGGA	0.537																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(628-630)gcG>gcA		PDZ domain containing 2							89.0	88.0	88.0					5																	31983414		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983414G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.630G>A	5.37:g.31983414G>A						PDZD2_ENST00000282493.3_Silent_p.A210A	p.A210A			O15018	PDZD2_HUMAN			3	1018	+			210					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.630G>A	CCDS34137.1																																																																																				0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			25	57	0	0	0	1	0	25	57				
UBALD1	124402	broad.mit.edu	37	16	4659674	4659674	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr16:4659674G>C	ENST00000283474.7	-	3	622	c.494C>G	c.(493-495)tCa>tGa	p.S165*	UBALD1_ENST00000591897.1_Nonsense_Mutation_p.S105*|UBALD1_ENST00000590891.1_Nonsense_Mutation_p.S200*|UBALD1_ENST00000591401.1_Nonsense_Mutation_p.S144*|UBALD1_ENST00000587615.1_Nonsense_Mutation_p.S140*|UBALD1_ENST00000590965.1_3'UTR	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	165	Pro-rich.																CCTGGGTTCTGAGGTGGCCTG	0.716																																						ENST00000590891.1																			0											c.(598-600)tCa>tGa		UBA-like domain containing 1							13.0	19.0	17.0					16																	4659674		1925	4071	5996	SO:0001587	stop_gained	124402							g.chr16:4659674G>C	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member A"""	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.494C>G	16.37:g.4659674G>C	ENSP00000283474:p.Ser165*					UBALD1_ENST00000591897.1_Nonsense_Mutation_p.S105*|UBALD1_ENST00000283474.7_Nonsense_Mutation_p.S165*|UBALD1_ENST00000587615.1_Nonsense_Mutation_p.S140*|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000591401.1_Nonsense_Mutation_p.S144*	p.S200*							1	1850	-								Q71MF6	Nonsense_Mutation	SNP	ENST00000283474.7	37	c.599C>G	CCDS10518.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204947	0.79127	.	.	ENSG00000153443	ENST00000283474	.	.	.	4.18	4.18	0.49190	.	0.176705	0.37715	N	0.001974	.	.	.	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.2653	0.73657	0.0:0.0:1.0:0.0	.	.	.	.	X	165	.	ENSP00000283474:S165X	S	-	2	0	FAM100A	4599675	1.000000	0.71417	0.996000	0.52242	0.722000	0.41435	8.955000	0.93058	2.176000	0.68965	0.563000	0.77884	TCA		0.716	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251635.2	NM_145253		10	32	0	0	0	1	0	10	32				
UNC79	57578	broad.mit.edu	37	14	94069643	94069643	+	Silent	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr14:94069643C>A	ENST00000393151.2	+	26	3633	c.3633C>A	c.(3631-3633)atC>atA	p.I1211I	UNC79_ENST00000256339.4_Silent_p.I1034I|UNC79_ENST00000555664.1_Silent_p.I1211I|UNC79_ENST00000553484.1_Silent_p.I1211I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1211					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATGGAAGATCAAGAGAGCTC	0.512																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3631-3633)atC>atA		unc-79 homolog (C. elegans)							169.0	152.0	158.0					14																	94069643		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94069643C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3633C>A	14.37:g.94069643C>A						UNC79_ENST00000256339.4_Silent_p.I1034I|UNC79_ENST00000555664.1_Silent_p.I1211I|UNC79_ENST00000393151.2_Silent_p.I1211I	p.I1211I			Q9P2D8	UNC79_HUMAN			26	3787	+			1211					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3633C>A																																																																																					0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		20	68	1	0	2.37509e-13	1	2.66968e-13	20	68				
KBTBD12	166348	broad.mit.edu	37	3	127682161	127682161	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:127682161G>A	ENST00000405109.1	+	5	2089	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	KBTBD12_ENST00000492025.1_3'UTR|RNA5SP139_ENST00000364340.1_RNA|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R541H|KBTBD12_ENST00000407609.3_Missense_Mutation_p.R148H|KBTBD12_ENST00000343941.4_Missense_Mutation_p.R116H			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	541										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCTCACTCCGCACCAATTCC	0.542																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1621-1623)cGc>cAc		kelch repeat and BTB (POZ) domain containing 12							53.0	45.0	47.0					3																	127682161		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127682161G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1622G>A	3.37:g.127682161G>A	ENSP00000385957:p.Arg541His					KBTBD12_ENST00000343941.4_Missense_Mutation_p.R116H|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R541H|KBTBD12_ENST00000407609.3_Missense_Mutation_p.R148H|KBTBD12_ENST00000492025.1_3'UTR	p.R541H			Q3ZCT8	KBTBC_HUMAN			5	2089	+			541					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1622G>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230819	0.79688	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.21	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.47093	D	0.000246	T	0.78830	0.4345	L	0.54323	1.7	0.44380	D	0.997285	D;P	0.53151	0.958;0.588	P;B	0.49999	0.628;0.103	T	0.81444	-0.0930	10	0.87932	D	0	.	19.1945	0.93681	0.0:0.0:1.0:0.0	.	541;116	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	H	541;148;541;116	ENSP00000385957:R541H;ENSP00000385830:R148H;ENSP00000385879:R541H;ENSP00000345478:R116H	ENSP00000345478:R116H	R	+	2	0	KBTBD12	129164851	1.000000	0.71417	0.910000	0.35882	0.886000	0.51366	6.290000	0.72712	2.531000	0.85337	0.591000	0.81541	CGC		0.542	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		8	12	0	0	0	1	0	8	12				
C5orf34	375444	broad.mit.edu	37	5	43506488	43506488	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:43506488G>A	ENST00000306862.2	-	4	669	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	98										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTATGTCAATGAAGATATGCT	0.368																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(292-294)ttC>ttT		chromosome 5 open reading frame 34							77.0	70.0	72.0					5																	43506488		2203	4300	6503	SO:0001819	synonymous_variant	375444							g.chr5:43506488G>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.294C>T	5.37:g.43506488G>A						RP11-159F24.3_ENST00000505645.1_RNA	p.F98F	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			4	669	-	Lung NSC(6;2.07e-05)		98						Silent	SNP	ENST00000306862.2	37	c.294C>T	CCDS3946.1																																																																																				0.368	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		10	16	0	0	0	1	0	10	16				
CIZ1	25792	broad.mit.edu	37	9	130941637	130941637	+	Silent	SNP	C	C	T	rs370276550		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:130941637C>T	ENST00000393608.1	-	8	1051	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CIZ1_ENST00000325721.8_Silent_p.P254P|CIZ1_ENST00000357558.5_Silent_p.P283P|CIZ1_ENST00000372948.3_Silent_p.P283P|CIZ1_ENST00000372954.1_Silent_p.P259P|CIZ1_ENST00000277465.4_Silent_p.P283P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000541172.1_Silent_p.P182P|CIZ1_ENST00000372938.5_Silent_p.P283P|CIZ1_ENST00000538431.1_Silent_p.P283P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	283	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCCGGGCCTGCGGCTGGGCCT	0.567																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(847-849)ccG>ccA		CDKN1A interacting zinc finger protein 1		C	,,,,	0,4406		0,0,2203	68.0	68.0	68.0		849,849,834,777,849	-8.8	0.1	9		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	283/843,283/899,278/838,259/819,283/899	130941637	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941637C>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.849G>A	9.37:g.130941637C>T						CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000277465.4_Silent_p.P283P|CIZ1_ENST00000372938.5_Silent_p.P283P|CIZ1_ENST00000393608.1_Silent_p.P283P|CIZ1_ENST00000372954.1_Silent_p.P259P|CIZ1_ENST00000541172.1_Silent_p.P182P|CIZ1_ENST00000357558.5_Silent_p.P283P|CIZ1_ENST00000325721.8_Silent_p.P254P|CIZ1_ENST00000372948.3_Silent_p.P283P	p.P283P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			8	1096	-			283			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	c.849G>A	CCDS6894.1																																																																																				0.567	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		18	67	0	0	0	1	0	18	67				
TEX15	56154	broad.mit.edu	37	8	30695298	30695298	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:30695298C>T	ENST00000256246.2	-	3	7427	c.7353G>A	c.(7351-7353)aaG>aaA	p.K2451K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2451					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CACAATCTTTCTTATCACTTT	0.358																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7351-7353)aaG>aaA		testis expressed 15							166.0	171.0	170.0					8																	30695298		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30695298C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7353G>A	8.37:g.30695298C>T							p.K2451K	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7427	-			2451						Silent	SNP	ENST00000256246.2	37	c.7353G>A	CCDS6080.1																																																																																				0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			30	116	0	0	0	1	0	30	116				
PCDHGA12	26025	broad.mit.edu	37	5	140812097	140812097	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:140812097G>A	ENST00000252085.3	+	1	1913	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	591	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCAAGGTGGTGGCGGT	0.687																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1771-1773)Gtg>Atg									57.0	68.0	64.0					5																	140812097		2201	4296	6497	SO:0001583	missense	26025							g.chr5:140812097G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1771G>A	5.37:g.140812097G>A	ENSP00000252085:p.Val591Met					PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.V591M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1913	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1771G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	16.64	3.180856	0.57800	.	.	ENSG00000253159	ENST00000252085	T	0.57907	0.37	4.89	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79621	0.4477	H	0.95645	3.7	0.26354	N	0.977164	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.73956	-0.3819	9	0.87932	D	0	.	11.603	0.51015	0.1316:0.0:0.8684:0.0	.	591;591	O60330-2;O60330	.;PCDGC_HUMAN	M	591	ENSP00000252085:V591M	ENSP00000252085:V591M	V	+	1	0	PCDHGA12	140792281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.814000	0.48010	2.432000	0.82394	0.556000	0.70494	GTG		0.687	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		50	117	0	0	0	1	0	50	117				
DNAJC5B	85479	broad.mit.edu	37	8	66992739	66992739	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:66992739C>T	ENST00000276570.5	+	5	748	c.461C>T	c.(460-462)tCc>tTc	p.S154F	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	154						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TTCTATGTGTCCCCAGAGGAT	0.552																																						ENST00000276570.5																			0				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(460-462)tCc>tTc		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							64.0	53.0	57.0					8																	66992739		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66992739C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.461C>T	8.37:g.66992739C>T	ENSP00000276570:p.Ser154Phe					DNAJC5B_ENST00000519330.1_3'UTR	p.S154F	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		5	748	+		Lung NSC(129;0.114)|all_lung(136;0.188)	154					Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.461C>T	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297573	0.60086	.	.	ENSG00000147570	ENST00000276570	T	0.71934	-0.61	5.92	5.92	0.95590	.	0.071124	0.56097	D	0.000024	T	0.75517	0.3860	M	0.84326	2.69	0.52099	D	0.999946	B	0.28801	0.223	B	0.28709	0.093	T	0.72083	-0.4397	9	.	.	.	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	154	Q9UF47	DNJ5B_HUMAN	F	154	ENSP00000276570:S154F	.	S	+	2	0	DNAJC5B	67155293	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.641000	0.67881	2.813000	0.96785	0.561000	0.74099	TCC		0.552	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		7	15	0	0	0	1	0	7	15				
OSBPL5	114879	broad.mit.edu	37	11	3109525	3109525	+	Silent	SNP	C	C	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:3109525C>G	ENST00000263650.7	-	22	2709	c.2550G>C	c.(2548-2550)ccG>ccC	p.P850P	OSBPL5_ENST00000542243.1_Silent_p.P481P|OSBPL5_ENST00000525498.1_Silent_p.P761P|OSBPL5_ENST00000478260.1_Silent_p.P304P|OSBPL5_ENST00000389989.3_Silent_p.P782P|OSBPL5_ENST00000348039.5_Silent_p.P782P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	850					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCCTGGGGTCGGTGCCTGTG	0.632																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2548-2550)ccG>ccC		oxysterol binding protein-like 5							51.0	50.0	50.0					11																	3109525		2201	4298	6499	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3109525C>G	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2550G>C	11.37:g.3109525C>G						OSBPL5_ENST00000525498.1_Silent_p.P761P|OSBPL5_ENST00000348039.5_Silent_p.P782P|OSBPL5_ENST00000542243.1_Silent_p.P481P|OSBPL5_ENST00000389989.3_Silent_p.P782P|OSBPL5_ENST00000478260.1_Silent_p.P304P	p.P850P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	22	2709	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	850					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.2550G>C	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	5.443	0.266788	0.10294	.	.	ENSG00000021762	ENST00000357352	.	.	.	4.77	-7.83	0.01201	.	.	.	.	.	T	0.44850	0.1313	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.57969	-0.7719	5	0.87932	D	0	-8.9003	11.1523	0.48466	0.0962:0.1746:0.0:0.7292	.	.	.	.	H	416	.	ENSP00000349912:D416H	D	-	1	0	OSBPL5	3066101	.	.	0.000000	0.03702	0.020000	0.10135	.	.	-1.574000	0.01657	-0.254000	0.11334	GAC		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			10	29	0	0	0	1	0	10	29				
RMND5B	64777	broad.mit.edu	37	5	177569714	177569714	+	Silent	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:177569714C>A	ENST00000515098.1	+	5	621	c.270C>A	c.(268-270)ggC>ggA	p.G90G	RMND5B_ENST00000313386.4_Silent_p.G90G|RMND5B_ENST00000542098.1_Silent_p.G77G			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	90										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGAGTGGGCAAAGCCATTG	0.567																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(268-270)ggC>ggA		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							83.0	78.0	80.0					5																	177569714		2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177569714C>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.270C>A	5.37:g.177569714C>A						RMND5B_ENST00000313386.4_Silent_p.G90G|RMND5B_ENST00000542098.1_Silent_p.G77G	p.G90G			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	621	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	90					Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.270C>A	CCDS4431.1																																																																																				0.567	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		20	67	1	0	1.40151e-16	1	1.60015e-16	20	67				
DNAH9	1770	broad.mit.edu	37	17	11666861	11666861	+	Missense_Mutation	SNP	A	A	C	rs201277948		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:11666861A>C	ENST00000262442.4	+	36	7168	c.7100A>C	c.(7099-7101)aAg>aCg	p.K2367T	DNAH9_ENST00000454412.2_Missense_Mutation_p.K2367T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2367					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACTGCCCTAAGGAAATTTAT	0.488																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7099-7101)aAg>aCg		dynein, axonemal, heavy chain 9							115.0	106.0	109.0					17																	11666861		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666861A>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7100A>C	17.37:g.11666861A>C	ENSP00000262442:p.Lys2367Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.K2367T	p.K2367T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7168	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2367					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7100A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633391	0.67015	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.28069	1.67;1.63	4.76	3.68	0.42216	.	0.129136	0.50627	D	0.000109	T	0.58192	0.2105	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.63198	-0.6691	10	0.72032	D	0.01	.	10.5743	0.45219	0.9231:0.0:0.0769:0.0	.	2367	Q9NYC9	DYH9_HUMAN	T	2367;2367;949	ENSP00000262442:K2367T;ENSP00000414874:K2367T	ENSP00000262442:K2367T	K	+	2	0	DNAH9	11607586	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.198000	0.65147	0.769000	0.33313	-0.290000	0.09829	AAG		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		16	53	0	0	0	1	0	16	53				
BCL3	602	broad.mit.edu	37	19	45259540	45259540	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:45259540G>A	ENST00000164227.5	+	3	706	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	154					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TGCACCGGCTGGTCAACCTCT	0.622			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(460-462)ctG>ctA		B-cell CLL/lymphoma 3							38.0	35.0	36.0					19																	45259540		2203	4300	6503	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45259540G>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.462G>A	19.37:g.45259540G>A							p.L154L	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			3	706	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	154						Silent	SNP	ENST00000164227.5	37	c.462G>A	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216795	0.09810	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.69	-9.37	0.00626	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.31078	N	0.712219	.	.	.	.	.	.	T	0.17623	-1.0363	4	.	.	.	-17.8729	0.4527	0.00504	0.2097:0.216:0.258:0.3163	.	.	.	.	S	38	.	.	G	+	1	0	BCL3	49951380	0.006000	0.16342	0.001000	0.08648	0.526000	0.34562	-2.182000	0.01256	-1.614000	0.01575	-0.521000	0.04368	GGT		0.622	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		6	25	0	0	0	1	0	6	25				
IRF4	3662	broad.mit.edu	37	6	407546	407546	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:407546G>A	ENST00000380956.4	+	9	1430	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	435					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAACACATCAGCAATCCAGAA	0.353			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1303-1305)aGc>aAc		interferon regulatory factor 4							94.0	93.0	93.0					6																	407546		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407546G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1304G>A	6.37:g.407546G>A	ENSP00000370343:p.Ser435Asn						p.S435N	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	9	1430	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	435					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1304G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451122	0.12223	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96232	-3.95	5.51	3.67	0.42095	SMAD domain-like (1);SMAD/FHA domain (1);	1.013590	0.07857	N	0.965575	D	0.88407	0.6428	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.81360	-0.0968	10	0.49607	T	0.09	-17.2981	15.3401	0.74290	0.0:0.3953:0.6047:0.0	.	434;435	Q15306-2;Q15306	.;IRF4_HUMAN	N	435;464	ENSP00000370343:S435N	ENSP00000370343:S435N	S	+	2	0	IRF4	352546	0.021000	0.18746	0.595000	0.28798	0.361000	0.29550	0.691000	0.25467	1.311000	0.45024	0.655000	0.94253	AGC		0.353	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			13	44	0	0	0	1	0	13	44				
ZNF608	57507	broad.mit.edu	37	5	123984545	123984545	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:123984545T>C	ENST00000306315.5	-	4	1967	c.1532A>G	c.(1531-1533)aAc>aGc	p.N511S	ZNF608_ENST00000504926.1_Missense_Mutation_p.N84S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	511							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGAGCTGGAGTTCAGGTCCAG	0.512																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1531-1533)aAc>aGc		zinc finger protein 608							117.0	115.0	116.0					5																	123984545		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984545T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1532A>G	5.37:g.123984545T>C	ENSP00000307746:p.Asn511Ser					ZNF608_ENST00000504926.1_Missense_Mutation_p.N84S	p.N511S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1967	-		all_cancers(142;0.186)|Prostate(80;0.081)	511					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1532A>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452509	0.63290	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.46451	0.87;0.92	5.26	4.06	0.47325	.	0.100986	0.64402	D	0.000002	T	0.30727	0.0774	L	0.31526	0.94	0.38503	D	0.948289	B	0.32573	0.376	B	0.31751	0.135	T	0.11842	-1.0571	10	0.35671	T	0.21	-21.7618	12.0448	0.53473	0.0:0.0:0.1445:0.8555	.	511	Q9ULD9	ZN608_HUMAN	S	84;511;511;511	ENSP00000427657:N84S;ENSP00000307746:N511S	ENSP00000307746:N511S	N	-	2	0	ZNF608	124012444	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.164000	0.50770	0.801000	0.34066	0.445000	0.29226	AAC		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		19	54	0	0	0	1	0	19	54				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	21	0	0	0	1	0	4	21				
C6	729	broad.mit.edu	37	5	41158815	41158815	+	Silent	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:41158815C>A	ENST00000263413.3	-	13	2193	c.1929G>T	c.(1927-1929)ggG>ggT	p.G643G	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Silent_p.G643G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	643	C5b-binding domain.|CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGAGGACACCCGGAATCTG	0.403																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1927-1929)ggG>ggT		complement component 6							104.0	108.0	107.0					5																	41158815		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41158815C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1929G>T	5.37:g.41158815C>A						C6_ENST00000337836.5_Silent_p.G643G	p.G643G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			13	2193	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	643			C5b-binding domain.|Sushi 1.			Silent	SNP	ENST00000263413.3	37	c.1929G>T	CCDS3936.1																																																																																				0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	36	1	0	0.00307968	1	0.00312275	7	36				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	14	0	0	0	1	0	3	14				
HIST1H2AE	3012	broad.mit.edu	37	6	26217341	26217341	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:26217341G>A	ENST00000303910.2	+	1	177	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	47						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGTCGGGGCCGGCGCTCCAGT	0.587																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(139-141)Ggc>Agc		histone cluster 1, H2ae							46.0	46.0	46.0					6																	26217341		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217341G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.139G>A	6.37:g.26217341G>A	ENSP00000303373:p.Gly47Ser						p.G47S	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	177	+		all_hematologic(11;0.196)	47					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.139G>A	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.521103	0.44866	.	.	ENSG00000168274	ENST00000303910	T	0.39229	1.09	3.98	3.98	0.46160	.	0.000000	0.34676	U	0.003778	T	0.53546	0.1803	M	0.78344	2.41	0.53688	D	0.999974	.	.	.	.	.	.	T	0.61520	-0.7046	8	0.72032	D	0.01	.	15.5689	0.76317	0.0:0.0:1.0:0.0	.	.	.	.	S	47	ENSP00000303373:G47S	ENSP00000303373:G47S	G	+	1	0	HIST1H2AE	26325320	1.000000	0.71417	0.947000	0.38551	0.012000	0.07955	7.559000	0.82265	2.215000	0.71742	0.585000	0.79938	GGC		0.587	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		15	45	0	0	0	1	0	15	45				
CCL25	6370	broad.mit.edu	37	19	8122796	8122796	+	Missense_Mutation	SNP	C	C	G	rs377042132		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:8122796C>G	ENST00000390669.3	+	4	487	c.437C>G	c.(436-438)gCt>gGt	p.A146G	CCL25_ENST00000253451.4_Missense_Mutation_p.A145G			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	146					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ctgatatcagctaattcaggt	0.478																																						ENST00000253451.4																			0				NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						c.(433-435)gCt>gGt		chemokine (C-C motif) ligand 25							161.0	152.0	155.0					19																	8122796		2025	4175	6200	SO:0001583	missense	6370				chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	g.chr19:8122796C>G	U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"""Chemokine ligands"", ""Endogenous ligands"""	10624	protein-coding gene	gene with protein product	"""Ck beta-15"", ""thymus expressed chemokine"", ""TECKvar"""	602565	"""small inducible cytokine subfamily A (Cys-Cys), member 25"""	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.437C>G	19.37:g.8122796C>G	ENSP00000375086:p.Ala146Gly					CCL25_ENST00000390669.3_Missense_Mutation_p.A146G	p.A145G	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN			5	540	+			146					A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Missense_Mutation	SNP	ENST00000390669.3	37	c.434C>G	CCDS12194.1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742420	0.15642	.	.	ENSG00000131142	ENST00000253451;ENST00000390669	T;T	0.21361	2.04;2.01	1.17	1.17	0.20885	.	.	.	.	.	T	0.14056	0.0340	L	0.32530	0.975	0.09310	N	0.999998	B;B	0.23937	0.094;0.094	B;B	0.15870	0.014;0.014	T	0.21381	-1.0247	9	0.54805	T	0.06	.	5.7069	0.17913	0.0:1.0:0.0:0.0	.	146;145	O15444;A6NI52	CCL25_HUMAN;.	G	145;146	ENSP00000253451:A145G;ENSP00000375086:A146G	ENSP00000253451:A145G	A	+	2	0	CCL25	8028796	0.000000	0.05858	0.007000	0.13788	0.115000	0.19883	0.189000	0.17037	0.951000	0.37770	0.305000	0.20034	GCT		0.478	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280522.1	NM_005624		18	64	0	0	0	1	0	18	64				
TOMM20	9804	broad.mit.edu	37	1	235291945	235291945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:235291945C>T	ENST00000366607.4	-	1	306	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	29					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			GGGGTCACTTCGTCTTTTGCG	0.602																																						ENST00000366607.4																			0				lung(2)|prostate(1)	3						c.(85-87)cGa>cAa		translocase of outer mitochondrial membrane 20 homolog (yeast)							142.0	128.0	133.0					1																	235291945		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291945C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.86G>A	1.37:g.235291945C>T	ENSP00000355566:p.Arg29Gln						p.R29Q	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	306	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	29					A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.86G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828798	0.50845	.	.	ENSG00000173726	ENST00000366607	T	0.50277	0.75	4.95	3.06	0.35304	.	0.054991	0.64402	D	0.000001	T	0.44477	0.1295	M	0.74647	2.275	0.58432	D	0.999999	P	0.36733	0.567	B	0.32583	0.148	T	0.44997	-0.9291	10	0.49607	T	0.09	-0.0061	10.5086	0.44849	0.0:0.7931:0.1343:0.0726	.	29	Q15388	TOM20_HUMAN	Q	29	ENSP00000355566:R29Q	ENSP00000355566:R29Q	R	-	2	0	TOMM20	233358568	1.000000	0.71417	0.973000	0.42090	0.007000	0.05969	7.097000	0.76967	0.786000	0.33708	0.561000	0.74099	CGA		0.602	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		39	106	0	0	0	1	0	39	106				
IGHV4-59	28392	broad.mit.edu	37	14	107083671	107083671	+	RNA	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr14:107083671C>T	ENST00000455737.1	-	0	54									immunoglobulin heavy variable 4-59																		GAAGGAAGAACCACAGATGTT	0.512																																						ENST00000455737.1																			0																				112.0	99.0	104.0					14																	107083671		1937	4140	6077			28392							g.chr14:107083671C>T	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083671C>T														0	54	-									RNA	SNP	ENST00000455737.1	37																																																																																						0.512	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		4	37	0	0	0	1	0	4	37				
OR2AG1	144125	broad.mit.edu	37	11	6807091	6807091	+	Missense_Mutation	SNP	T	T	A	rs112661648		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:6807091T>A	ENST00000307401.4	+	1	844	c.823T>A	c.(823-825)Tct>Act	p.S275T		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAACATCATCTCTGTTTTCTA	0.498																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(823-825)Tct>Act		olfactory receptor, family 2, subfamily AG, member 1							154.0	136.0	142.0					11																	6807091		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6807091T>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.823T>A	11.37:g.6807091T>A	ENSP00000307447:p.Ser275Thr						p.S275T	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	844	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	275					B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.823T>A	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254597	0.59212	.	.	ENSG00000170803	ENST00000307401	T	0.00235	8.48	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000131	T	0.00440	0.0014	L	0.60904	1.88	0.31184	N	0.701683	D	0.76494	0.999	D	0.76575	0.988	T	0.55134	-0.8188	10	0.87932	D	0	.	11.9042	0.52701	0.0:0.0:0.0:1.0	.	275	Q9H205	O2AG1_HUMAN	T	275	ENSP00000307447:S275T	ENSP00000307447:S275T	S	+	1	0	OR2AG1	6763667	0.032000	0.19561	0.998000	0.56505	0.989000	0.77384	0.376000	0.20535	1.987000	0.57996	0.533000	0.62120	TCT		0.498	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		11	39	0	0	0	1	0	11	39				
ZNF160	90338	broad.mit.edu	37	19	53573249	53573249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:53573249G>A	ENST00000429604.1	-	7	953	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	ZNF160_ENST00000601421.1_Nonsense_Mutation_p.Q144*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.Q180*	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	180					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)		ACTCCAAGCTGATTGTTCATA	0.403																																						ENST00000601421.1																			0				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						c.(430-432)Cag>Tag		zinc finger protein 160							239.0	197.0	211.0					19																	53573249		2203	4300	6503	SO:0001587	stop_gained	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573249G>A	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.538C>T	19.37:g.53573249G>A	ENSP00000406201:p.Gln180*					ZNF160_ENST00000418871.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000429604.1_Nonsense_Mutation_p.Q180*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.Q180*	p.Q144*			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1306	-			180					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Nonsense_Mutation	SNP	ENST00000429604.1	37	c.430C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760939	0.69763	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	.	.	.	2.59	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	3.7008	0.08382	0.2413:0.0:0.4915:0.2672	.	.	.	.	X	180	.	ENSP00000409597:Q180X	Q	-	1	0	ZNF160	58265061	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.827000	0.04424	-0.299000	0.08909	0.561000	0.74099	CAG		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		16	54	0	0	0	1	0	16	54				
ITPR2	3709	broad.mit.edu	37	12	26874260	26874260	+	Intron	SNP	T	T	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr12:26874260T>A	ENST00000381340.3	-	5	942				ITPR2_ENST00000242737.5_Missense_Mutation_p.I181F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCAAATTAAATCCAGAAGCTT	0.338																																						ENST00000242737.5																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(541-543)Att>Ttt		inositol 1,4,5-trisphosphate receptor, type 2							12.0	13.0	13.0					12																	26874260		874	1986	2860	SO:0001627	intron_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26874260T>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.525+1069A>T	12.37:g.26874260T>A						ITPR2_ENST00000381340.3_Intron	p.I181F			Q14571	ITPR2_HUMAN			6	540	-	Colorectal(261;0.0847)		0			MIR 2.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.541A>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510610	0.44660	.	.	ENSG00000123104	ENST00000242737	.	.	.	4.51	3.53	0.40419	.	.	.	.	.	T	0.30103	0.0754	.	.	.	0.25148	N	0.990449	B	0.15719	0.014	B	0.20955	0.032	T	0.27331	-1.0077	7	0.62326	D	0.03	.	4.2117	0.10514	0.0:0.7435:0.0:0.2565	.	181	Q14571-2	.	F	181	.	ENSP00000242737:I181F	I	-	1	0	ITPR2	26765527	0.633000	0.27181	1.000000	0.80357	0.946000	0.59487	-0.574000	0.05868	0.852000	0.35287	0.533000	0.62120	ATT		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		3	11	0	0	0	1	0	3	11				
NPAS3	64067	broad.mit.edu	37	14	34269411	34269411	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr14:34269411C>T	ENST00000356141.4	+	12	1898	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	NPAS3_ENST00000357798.5_Missense_Mutation_p.P620L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P638L|NPAS3_ENST00000346562.2_Missense_Mutation_p.P601L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P603L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	633					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGGTGGAGCCCCCGCGGCTG	0.652																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1801-1803)cCc>cTc		neuronal PAS domain protein 3							19.0	21.0	20.0					14																	34269411		2196	4293	6489	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269411C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1898C>T	14.37:g.34269411C>T	ENSP00000348460:p.Pro633Leu					NPAS3_ENST00000548645.1_Missense_Mutation_p.P603L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P638L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P620L|NPAS3_ENST00000356141.4_Missense_Mutation_p.P633L	p.P601L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1876	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		633					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1802C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761646	0.31228	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.70516	-0.49;3.26;3.27;3.27;3.26;3.13	4.91	4.01	0.46588	.	0.356740	0.28252	N	0.016031	T	0.54062	0.1835	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.25609	0.13;0.079;0.13;0.13	B;B;B;B	0.21917	0.037;0.017;0.037;0.037	T	0.53457	-0.8436	10	0.62326	D	0.03	.	9.9377	0.41561	0.1966:0.6781:0.1253:0.0	.	603;633;601;620	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	L	607;638;601;603;633;620	ENSP00000448373:P607L;ENSP00000450392:P638L;ENSP00000319610:P601L;ENSP00000448916:P603L;ENSP00000348460:P633L;ENSP00000350446:P620L	ENSP00000319610:P601L	P	+	2	0	NPAS3	33339162	1.000000	0.71417	0.982000	0.44146	0.932000	0.56968	4.548000	0.60718	1.027000	0.39758	0.555000	0.69702	CCC		0.652	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			6	20	0	0	0	1	0	6	20				
LACTB2	51110	broad.mit.edu	37	8	71570088	71570088	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:71570088G>A	ENST00000276590.4	-	3	352	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	LACTB2_ENST00000522447.1_Missense_Mutation_p.R106W|RN7SL19P_ENST00000462522.2_RNA|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	106						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAGGATTCCGTGGGAGTTTT	0.323																																						ENST00000276590.4																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10						c.(316-318)Cgg>Tgg		lactamase, beta 2							104.0	98.0	100.0					8																	71570088		2203	4300	6503	SO:0001583	missense	51110						hydrolase activity|metal ion binding	g.chr8:71570088G>A	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.316C>T	8.37:g.71570088G>A	ENSP00000276590:p.Arg106Trp					RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.R106W	p.R106W	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	352	-	Breast(64;0.0716)		106					A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	c.316C>T	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782292	0.70222	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.45276	0.9;0.9	5.75	4.88	0.63580	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.91038	3.17	0.58432	D	0.999996	B	0.21688	0.059	B	0.17433	0.018	T	0.61133	-0.7124	10	0.72032	D	0.01	-43.3705	16.3185	0.82936	0.0:0.0:0.8668:0.1332	.	106	Q53H82	LACB2_HUMAN	W	106	ENSP00000428801:R106W;ENSP00000276590:R106W	ENSP00000276590:R106W	R	-	1	2	LACTB2	71732642	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.315000	0.59172	1.430000	0.47334	-0.287000	0.09952	CGG		0.323	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		23	22	0	0	0	1	0	23	22				
APBA1	320	broad.mit.edu	37	9	72131431	72131431	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:72131431G>A	ENST00000265381.4	-	2	918	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	232	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCAGCCGCGCGCCCAGGGCCT	0.726																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(694-696)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							13.0	14.0	13.0					9																	72131431		2186	4277	6463	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131431G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.696C>T	9.37:g.72131431G>A							p.G232G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	918	-			232			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.696C>T	CCDS6630.1																																																																																				0.726	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		5	17	0	0	0	1	0	5	17				
PHOX2B	8929	broad.mit.edu	37	4	41749390	41749390	+	Silent	SNP	G	G	A	rs147497096		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:41749390G>A	ENST00000226382.2	-	2	764	c.405C>T	c.(403-405)atC>atT	p.I135I	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	135					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGTGAGGTCGATCTTCAGGG	0.647			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"""Mis, F"""	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(403-405)atC>atT		paired-like homeobox 2b		G		1,4405		0,1,2202	43.0	47.0	46.0		405	2.9	1.0	4	dbSNP_134	46	0,8600		0,0,4300	no	coding-synonymous	PHOX2B	NM_003924.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		135/315	41749390	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41749390G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.405C>T	4.37:g.41749390G>A							p.I135I	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			2	764	-			135					Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.405C>T	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	4.830	0.154305	0.09236	2.27E-4	0.0	ENSG00000109132	ENST00000510424	.	.	.	5.54	2.91	0.33838	.	.	.	.	.	T	0.54935	0.1889	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45948	-0.9226	4	.	.	.	.	6.4132	0.21702	0.1322:0.0:0.5068:0.361	.	.	.	.	L	75	.	.	S	-	2	0	PHOX2B	41444147	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.235000	0.17948	0.451000	0.26802	-0.136000	0.14681	TCG		0.647	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			20	46	0	0	0	1	0	20	46				
WDR59	79726	broad.mit.edu	37	16	74927661	74927661	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr16:74927661C>T	ENST00000262144.6	-	19	2046	c.1916G>A	c.(1915-1917)cGa>cAa	p.R639Q		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	639										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTTGATCTGTCGATTGCCAGA	0.458																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1915-1917)cGa>cAa		WD repeat domain 59							217.0	183.0	195.0					16																	74927661		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74927661C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1916G>A	16.37:g.74927661C>T	ENSP00000262144:p.Arg639Gln						p.R639Q	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			19	2046	-			639					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1916G>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690976	0.96793	.	.	ENSG00000103091	ENST00000262144	T	0.69040	-0.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.41236	1.265	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77557	0.968;0.99	T	0.66217	-0.5979	10	0.12430	T	0.62	-10.848	20.3368	0.98748	0.0:1.0:0.0:0.0	.	639;84	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	Q	639	ENSP00000262144:R639Q	ENSP00000262144:R639Q	R	-	2	0	WDR59	73485162	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	7.802000	0.85969	2.805000	0.96524	0.655000	0.94253	CGA		0.458	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		34	74	0	0	0	1	0	34	74				
SPECC1L	23384	broad.mit.edu	37	22	24717411	24717411	+	Missense_Mutation	SNP	C	C	T	rs148203655	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr22:24717411C>T	ENST00000314328.9	+	5	748	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	SPECC1L_ENST00000541492.1_Missense_Mutation_p.R155C|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.R155C|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R155C	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	155					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CAAACGTTCCCGCAGTCGAAC	0.463													C|||	4	0.000798722	0.0	0.0	5008	,	,		20828	0.004		0.0	False		,,,				2504	0.0					ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(463-465)Cgc>Tgc		sperm antigen with calponin homology and coiled-coil domains 1-like		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	121.0	124.0		463,463	5.7	1.0	22	dbSNP_134	124	0,8600		0,0,4300	yes	missense,missense	SPECC1L	NM_001145468.1,NM_015330.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	155/1118,155/1118	24717411	1,13005	2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717411C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.463C>T	22.37:g.24717411C>T	ENSP00000325785:p.Arg155Cys					SPECC1L_ENST00000437398.1_Missense_Mutation_p.R155C|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.R155C|SPECC1L_ENST00000541492.1_Missense_Mutation_p.R155C|SPECC1L_ENST00000416735.1_Intron	p.R155C	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	748	+			155					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.463C>T	CCDS33619.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	22.2	4.259505	0.80246	2.27E-4	0.0	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.67171	-0.25;2.2;-0.25;2.75;0.56	5.72	5.72	0.89469	.	0.049527	0.85682	D	0.000000	T	0.81297	0.4793	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.948	T	0.82522	-0.0415	10	0.87932	D	0	-11.2491	18.8711	0.92315	0.0:1.0:0.0:0.0	.	155;155	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	C	183;155;155;155;155;94	ENSP00000393363:R155C;ENSP00000405671:R155C;ENSP00000325785:R155C;ENSP00000439633:R155C;ENSP00000414354:R94C	ENSP00000325785:R155C	R	+	1	0	SPECC1L	23047411	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.791000	0.69045	2.717000	0.92951	0.650000	0.86243	CGC		0.463	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		27	77	0	0	0	1	0	27	77				
ARAP3	64411	broad.mit.edu	37	5	141035785	141035785	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:141035785C>T	ENST00000239440.4	-	28	3913	c.3848G>A	c.(3847-3849)cGc>cAc	p.R1283H	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R945H|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1114H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1283	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TAACTTCTTGCGGATTCCCAG	0.557																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3847-3849)cGc>cAc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							107.0	119.0	115.0					5																	141035785		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035785C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3848G>A	5.37:g.141035785C>T	ENSP00000239440:p.Arg1283His					ARAP3_ENST00000508305.1_Missense_Mutation_p.R1114H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R945H	p.R1283H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			28	3913	-			1283			PH 3.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3848G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835957	0.91117	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.42513	0.97;0.97;0.97	5.44	5.44	0.79542	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.68952	2.095	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.977;0.969;0.989	T	0.67082	-0.5760	10	0.72032	D	0.01	.	18.8357	0.92162	0.0:1.0:0.0:0.0	.	945;1114;1283	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	1114;1283;945	ENSP00000421826:R1114H;ENSP00000239440:R1283H;ENSP00000421468:R945H	ENSP00000239440:R1283H	R	-	2	0	ARAP3	141015969	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.290000	0.59019	2.547000	0.85894	0.591000	0.81541	CGC		0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		4	116	0	0	0	1	0	4	116				
ATP2B3	492	broad.mit.edu	37	X	152801884	152801884	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:152801884G>T	ENST00000349466.2	+	2	505	c.179G>T	c.(178-180)tGc>tTc	p.C60F	ATP2B3_ENST00000393842.1_Missense_Mutation_p.C60F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C60F|ATP2B3_ENST00000370186.1_Missense_Mutation_p.C60F|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C60F|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C60F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	60					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGGCTCTGCCGGAGGCTG	0.662																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(178-180)tGc>tTc		ATPase, Ca++ transporting, plasma membrane 3							35.0	33.0	33.0					X																	152801884		2193	4294	6487	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152801884G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.179G>T	X.37:g.152801884G>T	ENSP00000343886:p.Cys60Phe					ATP2B3_ENST00000370181.2_Missense_Mutation_p.C60F|ATP2B3_ENST00000349466.2_Missense_Mutation_p.C60F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C60F|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C60F|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C60F	p.C60F			Q16720	AT2B3_HUMAN			2	505	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		60					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.179G>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977782	0.74360	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.79	5.79	0.91817	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	M	0.76938	2.355	0.80722	D	1	P;D	0.56968	0.796;0.978	B;P	0.58520	0.344;0.84	D	0.88303	0.2951	10	0.87932	D	0	-15.0099	17.6305	0.88106	0.0:0.0:1.0:0.0	.	60;60	Q16720;Q16720-2	AT2B3_HUMAN;.	F	60	ENSP00000359205:C60F;ENSP00000343886:C60F;ENSP00000377425:C60F;ENSP00000352062:C60F;ENSP00000263519:C60F;ENSP00000359200:C60F	ENSP00000263519:C60F	C	+	2	0	ATP2B3	152455078	1.000000	0.71417	0.794000	0.32065	0.499000	0.33736	9.845000	0.99498	2.435000	0.82474	0.600000	0.82982	TGC		0.662	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		2	2	1	0	1	1	1	2	2				
ITPKC	80271	broad.mit.edu	37	19	41223947	41223947	+	Silent	SNP	T	T	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:41223947T>C	ENST00000263370.2	+	1	940	c.907T>C	c.(907-909)Tta>Cta	p.L303L	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	303					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCCATTAGAGGAACC	0.572																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(907-909)Tta>Cta		inositol-trisphosphate 3-kinase C							74.0	75.0	75.0					19																	41223947		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223947T>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.907T>C	19.37:g.41223947T>C							p.L303L	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	940	+			303					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.907T>C	CCDS12563.1																																																																																				0.572	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		15	52	0	0	0	1	0	15	52				
CENPF	1063	broad.mit.edu	37	1	214830486	214830486	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:214830486G>A	ENST00000366955.3	+	18	8864	c.8696G>A	c.(8695-8697)gGg>gAg	p.G2899E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2995	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATTCCCGAGGGTCTCCTTTG	0.438																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(8695-8697)gGg>gAg		centromere protein F, 350/400kDa							194.0	183.0	187.0					1																	214830486		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214830486G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8696G>A	1.37:g.214830486G>A	ENSP00000355922:p.Gly2899Glu						p.G2899E	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	18	8864	+			2995			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.8696G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319843	0.23994	.	.	ENSG00000117724	ENST00000366955	T	0.03035	4.07	5.39	1.12	0.20585	.	1.478470	0.04553	N	0.390218	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.27068	0.167	B	0.16722	0.016	T	0.42565	-0.9444	10	0.09084	T	0.74	.	7.1391	0.25546	0.0654:0.227:0.5901:0.1175	.	2995	P49454	CENPF_HUMAN	E	2899	ENSP00000355922:G2899E	ENSP00000355922:G2899E	G	+	2	0	CENPF	212897109	0.391000	0.25221	0.018000	0.16275	0.009000	0.06853	1.521000	0.35910	0.334000	0.23590	0.609000	0.83330	GGG		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		37	105	0	0	0	1	0	37	105				
BOLL	66037	broad.mit.edu	37	2	198646521	198646521	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:198646521C>T	ENST00000392296.4	-	2	363	c.54G>A	c.(52-54)ttG>ttA	p.L18L	BOLL_ENST00000430004.1_Silent_p.L18L|BOLL_ENST00000321801.7_Silent_p.L30L|BOLL_ENST00000433157.1_Silent_p.L18L|BOLL_ENST00000282278.8_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	18					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTGGGTTATTCAAAGGCACAG	0.378																																						ENST00000321801.7																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(88-90)ttG>ttA		boule-like RNA-binding protein							214.0	219.0	217.0					2																	198646521		2203	4300	6503	SO:0001819	synonymous_variant	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198646521C>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.54G>A	2.37:g.198646521C>T						BOLL_ENST00000392296.4_Silent_p.L18L|BOLL_ENST00000430004.1_Silent_p.L18L|BOLL_ENST00000433157.1_Silent_p.L18L|BOLL_ENST00000282278.8_5'UTR	p.L30L	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN			2	660	-			18					B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	ENST00000392296.4	37	c.90G>A	CCDS2325.1																																																																																				0.378	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		26	111	0	0	0	1	0	26	111				
FNBP4	23360	broad.mit.edu	37	11	47776172	47776172	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:47776172C>A	ENST00000263773.5	-	3	370	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	120						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACATCATTGTCATCGTCATCA	0.393																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(358-360)Gac>Tac		formin binding protein 4							232.0	223.0	226.0					11																	47776172		2100	4233	6333	SO:0001583	missense	23360							g.chr11:47776172C>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.358G>T	11.37:g.47776172C>A	ENSP00000263773:p.Asp120Tyr					FNBP4_ENST00000534003.1_5'UTR	p.D120Y	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			3	370	-			120					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.358G>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701730	0.68501	.	.	ENSG00000109920	ENST00000263773	T	0.37915	1.17	5.7	5.7	0.88788	.	0.281035	0.39687	N	0.001281	T	0.32912	0.0845	N	0.19112	0.55	0.44798	D	0.997803	P	0.36789	0.57	B	0.40101	0.319	T	0.18967	-1.0320	10	0.87932	D	0	-4.9824	19.508	0.95127	0.0:1.0:0.0:0.0	.	120	Q8N3X1	FNBP4_HUMAN	Y	120	ENSP00000263773:D120Y	ENSP00000263773:D120Y	D	-	1	0	FNBP4	47732748	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.331000	0.79192	2.716000	0.92895	0.644000	0.83932	GAC		0.393	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			7	48	1	0	8.12818e-05	1	8.54048e-05	7	48				
SLITRK2	84631	broad.mit.edu	37	X	144904872	144904872	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:144904872G>A	ENST00000370490.1	+	1	5184	c.929G>A	c.(928-930)cGt>cAt	p.R310H	SLITRK2_ENST00000447897.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R310H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	310					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGAAATCGTCCAACTCCT	0.552																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(928-930)cGt>cAt		SLIT and NTRK-like family, member 2							69.0	62.0	64.0					X																	144904872		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904872G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.929G>A	X.37:g.144904872G>A	ENSP00000359521:p.Arg310His					SLITRK2_ENST00000428560.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R310H|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R310H	p.R310H			Q9H156	SLIK2_HUMAN			1	5184	+	Acute lymphoblastic leukemia(192;6.56e-05)		310					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.929G>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099511	0.76983	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.54866	0.59;0.55;0.55;0.55;0.55;0.55	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.61703	1.905	0.58432	D	0.999993	D	0.89917	1.0	D	0.73380	0.98	T	0.68622	-0.5360	10	0.42905	T	0.14	-6.1089	15.945	0.79787	0.0:0.0:1.0:0.0	.	310	Q9H156	SLIK2_HUMAN	H	310	ENSP00000334374:R310H;ENSP00000411681:R310H;ENSP00000359521:R310H;ENSP00000397015:R310H;ENSP00000407347:R310H;ENSP00000412010:R310H	ENSP00000334374:R310H	R	+	2	0	SLITRK2	144712564	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.476000	0.97823	2.365000	0.80145	0.600000	0.82982	CGT		0.552	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		19	20	0	0	0	1	0	19	20				
NEUROD4	58158	broad.mit.edu	37	12	55420807	55420807	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr12:55420807C>T	ENST00000242994.3	+	2	962	c.584C>T	c.(583-585)tCt>tTt	p.S195F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	195					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATTTGTGACTCTGCCATCTCT	0.517																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(583-585)tCt>tTt		neuronal differentiation 4							91.0	94.0	93.0					12																	55420807		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420807C>T	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.584C>T	12.37:g.55420807C>T	ENSP00000242994:p.Ser195Phe						p.S195F	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	962	+			195					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.584C>T	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379949	0.82682	.	.	ENSG00000123307	ENST00000242994	T	0.66460	-0.21	5.71	5.71	0.89125	Neurogenic differentiation factor, domain of unknown function (1);	0.269776	0.38837	N	0.001542	T	0.78097	0.4230	M	0.64404	1.975	0.58432	D	0.999992	D	0.54964	0.969	P	0.59487	0.858	T	0.78280	-0.2265	10	0.59425	D	0.04	-31.4694	17.7236	0.88359	0.0:1.0:0.0:0.0	.	195	Q9HD90	NDF4_HUMAN	F	195	ENSP00000242994:S195F	ENSP00000242994:S195F	S	+	2	0	NEUROD4	53707074	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.205000	0.65186	2.854000	0.98071	0.655000	0.94253	TCT		0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			17	40	0	0	0	1	0	17	40				
ZMYM3	9203	broad.mit.edu	37	X	70466245	70466245	+	Missense_Mutation	SNP	C	C	T	rs201512680		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:70466245C>T	ENST00000353904.2	-	15	2717	c.2530G>A	c.(2530-2532)Gtc>Atc	p.V844I	ZMYM3_ENST00000314425.5_Missense_Mutation_p.V844I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V846I|ZMYM3_ENST00000373998.1_Missense_Mutation_p.V832I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.V846I	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	844					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGCAGGAGACGCCCCGATTC	0.592													t|||	3	0.000794702	0.0	0.0	3775	,	,		8451	0.001		0.0	False		,,,				2504	0.002					ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2494-2496)Gtc>Atc		zinc finger, MYM-type 3							84.0	64.0	71.0					X																	70466245		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466245C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2530G>A	X.37:g.70466245C>T	ENSP00000343909:p.Val844Ile					ZMYM3_ENST00000314425.5_Missense_Mutation_p.V844I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V846I|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V844I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.V846I	p.V832I	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			15	3191	-	Renal(35;0.156)		844					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2494G>A	CCDS14409.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	8.651	0.898158	0.17686	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.50548	1.33;0.74;1.33;1.31;1.33	4.52	0.83	0.18854	.	0.215004	0.31082	N	0.008288	T	0.38161	0.1030	L	0.49126	1.545	0.29089	N	0.882225	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.30822	-0.9965	10	0.52906	T	0.07	-3.7671	9.1473	0.36942	0.0:0.688:0.0:0.312	.	832;844	Q14202-2;Q14202	.;ZMYM3_HUMAN	I	844;832;844;846;846	ENSP00000322845:V844I;ENSP00000363110:V832I;ENSP00000343909:V844I;ENSP00000363096:V846I;ENSP00000363100:V846I	ENSP00000322845:V844I	V	-	1	0	ZMYM3	70382970	0.681000	0.27614	0.800000	0.32199	0.802000	0.45316	1.284000	0.33249	-0.154000	0.11118	-1.077000	0.02231	GTC		0.592	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		10	13	0	0	0	1	0	10	13				
OR4X2	119764	broad.mit.edu	37	11	48267105	48267105	+	Silent	SNP	A	A	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:48267105A>G	ENST00000302329.3	+	1	498	c.450A>G	c.(448-450)gcA>gcG	p.A150A		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTCCTTTGCACAAATCCTTC	0.498																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(448-450)gcA>gcG		olfactory receptor, family 4, subfamily X, member 2							269.0	227.0	241.0					11																	48267105		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267105A>G	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.450A>G	11.37:g.48267105A>G							p.A150A	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	498	+			150					B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.450A>G	CCDS31486.1																																																																																				0.498	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		31	115	0	0	0	1	0	31	115				
LRWD1	222229	broad.mit.edu	37	7	102106340	102106340	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:102106340G>T	ENST00000292616.5	+	2	309	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	53					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCAGGAGCTTGACCTGTCTAA	0.622																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(157-159)Gac>Tac		leucine-rich repeats and WD repeat domain containing 1							47.0	48.0	48.0					7																	102106340		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106340G>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.157G>T	7.37:g.102106340G>T	ENSP00000292616:p.Asp53Tyr						p.D53Y	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			2	309	+			53					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.157G>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676649	0.88445	.	.	ENSG00000161036	ENST00000292616	T	0.21932	1.98	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29731	-1.0002	10	0.87932	D	0	-4.7336	17.3718	0.87380	0.0:0.0:1.0:0.0	.	53	Q9UFC0	LRWD1_HUMAN	Y	53	ENSP00000292616:D53Y	ENSP00000292616:D53Y	D	+	1	0	LRWD1	101893345	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	8.661000	0.91125	2.349000	0.79799	0.561000	0.74099	GAC		0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		13	49	1	0	4.3838e-07	1	4.74367e-07	13	49				
PCCA	5095	broad.mit.edu	37	13	100955251	100955251	+	Splice_Site	SNP	G	G	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr13:100955251G>C	ENST00000376285.1	+	14	1321	c.1283G>C	c.(1282-1284)gGt>gCt	p.G428A	PCCA_ENST00000376286.4_Splice_Site_p.G402A|PCCA_ENST00000376279.3_Splice_Site_p.G428A	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	428	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCTACCTGGTGTAAGTCAT	0.383																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.e14+1		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						146.0	135.0	139.0					13																	100955251		2203	4300	6503	SO:0001630	splice_region_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100955251G>C	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1284+1G>C	13.37:g.100955251G>C						PCCA_ENST00000376279.3_Splice_Site_p.G428_splice|PCCA_ENST00000376286.4_Splice_Site_p.G402_splice	p.G428_splice	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			14	1321	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		428			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Splice_Site	SNP	ENST00000376285.1	37	c.1284_splice	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886775	0.51908	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.82984	-1.67;-1.67;-1.67	5.49	5.49	0.81192	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.269234	0.42420	D	0.000709	D	0.87834	0.6277	M	0.78049	2.395	0.43814	D	0.996379	P;P;D	0.56968	0.927;0.95;0.978	P;P;P	0.55087	0.768;0.657;0.768	D	0.86269	0.1660	10	0.32370	T	0.25	.	13.9724	0.64250	0.0729:0.0:0.9271:0.0	.	428;402;428	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	A	402;428;428	ENSP00000365463:G402A;ENSP00000365456:G428A;ENSP00000365462:G428A	ENSP00000365456:G428A	G	+	2	0	PCCA	99753252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.929000	0.48916	2.732000	0.93576	0.650000	0.86243	GGT		0.383	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		Missense_Mutation	7	32	0	0	0	1	0	7	32				
TMOD1	7111	broad.mit.edu	37	9	100328229	100328229	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:100328229G>A	ENST00000259365.4	+	7	931	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TMOD1_ENST00000375175.1_Missense_Mutation_p.V113M|TMOD1_ENST00000395211.2_Missense_Mutation_p.V240M	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	240					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TAATGACCCCGTGGCGTATGT	0.493																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(718-720)Gtg>Atg		tropomodulin 1							195.0	199.0	198.0					9																	100328229		2203	4300	6503	SO:0001583	missense	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100328229G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.718G>A	9.37:g.100328229G>A	ENSP00000259365:p.Val240Met					TMOD1_ENST00000259365.3_Missense_Mutation_p.V240M|TMOD1_ENST00000375175.1_Missense_Mutation_p.V113M	p.V240M	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	7	854	+		Acute lymphoblastic leukemia(62;0.154)	240					B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	c.718G>A	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190929	0.58017	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.92911	-3.13;-3.13;-3.13	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.95642	0.8583	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	P	0.56751	0.805	D	0.95704	0.8752	10	0.51188	T	0.08	-20.6121	17.6093	0.88048	0.0:0.0:1.0:0.0	.	240	P28289	TMOD1_HUMAN	M	240;240;113	ENSP00000378637:V240M;ENSP00000259365:V240M;ENSP00000364318:V113M	ENSP00000259365:V240M	V	+	1	0	TMOD1	99368050	1.000000	0.71417	0.936000	0.37596	0.054000	0.15201	7.483000	0.81158	2.550000	0.86006	0.561000	0.74099	GTG		0.493	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		16	64	0	0	0	1	0	16	64				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	27	0	0	0	1	0	7	27				
NALCN	259232	broad.mit.edu	37	13	101844291	101844291	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr13:101844291G>C	ENST00000251127.6	-	14	1822	c.1741C>G	c.(1741-1743)Ctc>Gtc	p.L581V	NALCN_ENST00000376196.3_Missense_Mutation_p.L581V|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	581					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGATGATAGAGAATGAAATAG	0.413																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1741-1743)Ctc>Gtc		sodium leak channel, non-selective							109.0	89.0	95.0					13																	101844291		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101844291G>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1741C>G	13.37:g.101844291G>C	ENSP00000251127:p.Leu581Val					NALCN_ENST00000376196.3_Missense_Mutation_p.L581V|NALCN_ENST00000470333.1_5'UTR	p.L581V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			14	1822	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		581					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1741C>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599806	0.66332	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98474	-4.95;-4.67	5.3	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	N	0.20845	0.615	0.80722	D	1	P;D;P	0.62365	0.938;0.991;0.87	P;D;P	0.64506	0.764;0.926;0.61	D	0.97201	0.9864	10	0.40728	T	0.16	.	14.3786	0.66897	0.0716:0.0:0.9284:0.0	.	581;581;581	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	V	581	ENSP00000251127:L581V;ENSP00000365367:L581V	ENSP00000251127:L581V	L	-	1	0	NALCN	100642292	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.492000	0.81482	1.364000	0.46038	0.650000	0.86243	CTC		0.413	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	20	0	0	0	1	0	5	20				
GJB3	2707	broad.mit.edu	37	1	35250780	35250780	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:35250780C>T	ENST00000373366.2	+	2	1032	c.417C>T	c.(415-417)ctC>ctT	p.L139L	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.L139L	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	139					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCTTCAAGCTCATCATTGAGT	0.587																																						ENST00000373366.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15						c.(415-417)ctC>ctT		gap junction protein, beta 3, 31kDa							238.0	250.0	246.0					1																	35250780		2203	4300	6503	SO:0001819	synonymous_variant	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250780C>T	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.417C>T	1.37:g.35250780C>T						GJB3_ENST00000373362.3_Silent_p.L139L|RP1-34M23.5_ENST00000542839.1_RNA	p.L139L	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN			2	1032	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	139					B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	c.417C>T	CCDS384.1																																																																																				0.587	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		25	81	0	0	0	1	0	25	81				
TAS2R13	50838	broad.mit.edu	37	12	11061430	11061430	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr12:11061430C>T	ENST00000390677.2	-	1	731	c.468G>A	c.(466-468)ctG>ctA	p.L156L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	156					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CATATCGGTCCAGCCAGTCTT	0.348																																						ENST00000390677.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(466-468)ctG>ctA		taste receptor, type 2, member 13							79.0	83.0	81.0					12																	11061430		2203	4300	6503	SO:0001819	synonymous_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061430C>T	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.468G>A	12.37:g.11061430C>T						PRR4_ENST00000536668.1_Intron	p.L156L	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	731	-			156					Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	c.468G>A	CCDS8635.1																																																																																				0.348	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			13	36	0	0	0	1	0	13	36				
SHB	6461	broad.mit.edu	37	9	37974673	37974673	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:37974673C>T	ENST00000377707.3	-	3	1565	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	334	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TCGTACTCATCGGCGGGCCTG	0.632																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(1000-1002)Gat>Aat		Src homology 2 domain containing adaptor protein B							61.0	69.0	67.0					9																	37974673		2053	4201	6254	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37974673C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1000G>A	9.37:g.37974673C>T	ENSP00000366936:p.Asp334Asn					RP11-613M10.9_ENST00000540557.1_3'UTR	p.D334N	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	3	1565	-		all_epithelial(88;0.122)	334			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1000G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579709	0.96565	.	.	ENSG00000107338	ENST00000377707	T	0.28895	1.59	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000005	T	0.51702	0.1690	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.47995	-0.9073	10	0.72032	D	0.01	-13.1829	17.6123	0.88058	0.0:1.0:0.0:0.0	.	334	Q15464	SHB_HUMAN	N	334	ENSP00000366936:D334N	ENSP00000366936:D334N	D	-	1	0	SHB	37964673	1.000000	0.71417	0.909000	0.35828	0.960000	0.62799	7.399000	0.79935	2.769000	0.95229	0.655000	0.94253	GAT		0.632	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			31	76	0	0	0	1	0	31	76				
HIST1H3B	8358	broad.mit.edu	37	6	26031885	26031885	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:26031885C>T	ENST00000244661.2	-	1	403	c.404G>A	c.(403-405)aGa>aAa	p.R135K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATTTACGCTCTTTCTCCGCG	0.453																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(403-405)aGa>aAa		histone cluster 1, H3b							56.0	59.0	58.0					6																	26031885		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031885C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.404G>A	6.37:g.26031885C>T	ENSP00000244661:p.Arg135Lys						p.R135K	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	403	-			135	Missing (in Ref. 2; AAA52651).				A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.404G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	12.54	1.967944	0.34754	.	.	ENSG00000124693	ENST00000244661	T	0.47177	0.85	5.17	5.17	0.71159	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.33309	D	0.565821	.	.	.	.	.	.	T	0.60136	-0.7322	6	0.66056	D	0.02	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	K	135	ENSP00000244661:R135K	ENSP00000244661:R135K	R	-	2	0	HIST1H3B	26139864	0.998000	0.40836	0.999000	0.59377	0.033000	0.12548	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	AGA		0.453	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		25	56	0	0	0	1	0	25	56				
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A	rs528038779		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4189-4191)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							264.0	249.0	254.0					9																	32631389		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631389G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4189C>T	9.37:g.32631389G>A	ENSP00000418379:p.Arg1397Cys						p.R1397C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4278	-			1397					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4189C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110883	0.56398	.	.	ENSG00000122728	ENST00000242310	T	0.19532	2.14	0.658	0.658	0.17855	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.64997	1.995	0.58432	D	0.999998	D	0.71674	0.998	P	0.48677	0.586	T	0.04565	-1.0942	10	0.87932	D	0	.	3.7153	0.08435	0.0:1.0E-4:0.5695:0.4304	.	1397	Q8IZX4	TAF1L_HUMAN	C	1397	ENSP00000418379:R1397C	ENSP00000418379:R1397C	R	-	1	0	TAF1L	32621389	0.996000	0.38824	0.994000	0.49952	0.594000	0.36715	1.633000	0.37113	0.626000	0.30322	0.195000	0.17529	CGC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			77	123	0	0	0	1	0	77	123				
NCKAP5	344148	broad.mit.edu	37	2	133543010	133543010	+	Silent	SNP	C	C	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:133543010C>G	ENST00000409261.1	-	14	1747	c.1374G>C	c.(1372-1374)ggG>ggC	p.G458G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.G458G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	458										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAGGGGCTCCCCAGGTCAG	0.468																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1372-1374)ggG>ggC		NCK-associated protein 5							54.0	53.0	54.0					2																	133543010		1873	4102	5975	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133543010C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1374G>C	2.37:g.133543010C>G						NCKAP5_ENST00000317721.6_Silent_p.G458G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.G458G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	1747	-			458					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1374G>C	CCDS46418.1																																																																																				0.468	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		14	11	0	0	0	1	0	14	11				
VAPA	9218	broad.mit.edu	37	18	9936135	9936135	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr18:9936135G>A	ENST00000400000.2	+	3	516	c.261G>A	c.(259-261)ccG>ccA	p.P87P	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Silent_p.P87P	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	87	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						ACTATGATCCGAATGAAAAGA	0.333																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(259-261)ccG>ccA		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							120.0	116.0	117.0					18																	9936135		1874	4139	6013	SO:0001819	synonymous_variant	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9936135G>A		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.261G>A	18.37:g.9936135G>A						VAPA_ENST00000340541.4_Silent_p.P87P|VAPA_ENST00000584796.1_3'UTR	p.P87P	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			3	516	+			87			MSP.		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Silent	SNP	ENST00000400000.2	37	c.261G>A	CCDS11848.2																																																																																				0.333	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			5	56	0	0	0	1	0	5	56				
DESI1	27351	broad.mit.edu	37	22	41999360	41999360	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr22:41999360G>A	ENST00000263256.6	-	5	572	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	106	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										TTACAATTGTGTTCAAAGAGG	0.463																																						ENST00000263256.6																			0											c.(316-318)Cac>Tac		desumoylating isopeptidase 1							215.0	186.0	196.0					22																	41999360		2203	4300	6503	SO:0001583	missense	27351							g.chr22:41999360G>A	AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"""family with sequence similarity 152, member B"", ""PPPDE peptidase domain containing 2"""	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.316C>T	22.37:g.41999360G>A	ENSP00000263256:p.His106Tyr					DESI1_ENST00000463886.1_5'UTR	p.H106Y	NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN			5	572	-			106			PPPDE peptidase.			Missense_Mutation	SNP	ENST00000263256.6	37	c.316C>T	CCDS33652.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685399	0.68157	.	.	ENSG00000100418	ENST00000263256	.	.	.	5.82	2.47	0.30058	Domain of unknown function DUF862, eukaryotic (1);	0.167662	0.64402	D	0.000003	T	0.73869	0.3642	M	0.89163	3.01	0.53688	D	0.999979	B	0.24963	0.115	B	0.32624	0.149	T	0.74450	-0.3661	9	0.62326	D	0.03	-13.7255	15.0803	0.72108	0.0:0.0:0.6295:0.3705	.	106	Q6ICB0	PPDE2_HUMAN	Y	106	.	ENSP00000263256:H106Y	H	-	1	0	PPPDE2	40329306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.941000	0.56607	0.332000	0.23536	0.655000	0.94253	CAC		0.463	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000104124.3	NM_015704		29	89	0	0	0	1	0	29	89				
SLC4A5	57835	broad.mit.edu	37	2	74459765	74459765	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:74459765C>T	ENST00000377634.4	-	24	3004	c.2605G>A	c.(2605-2607)Ggc>Agc	p.G869S	SLC4A5_ENST00000357822.5_Missense_Mutation_p.G869S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G869S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G869S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G869S					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGATGGTAGCCGGCAGCCTTC	0.602																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2605-2607)Ggc>Agc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							56.0	46.0	49.0					2																	74459765		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74459765C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2605G>A	2.37:g.74459765C>T	ENSP00000366861:p.Gly869Ser					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G869S|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G869S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G767S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G869S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G869S	p.G869S	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			24	3002	-			869						Missense_Mutation	SNP	ENST00000377634.4	37	c.2605G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112443	0.94339	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634	D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-1.79;-1.79;-2.53;-2.53;-2.53	5.04	5.04	0.67666	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;0.969;0.999	D;P;P;D	0.97110	1.0;0.828;0.678;0.975	D	0.96209	0.9151	10	0.87932	D	0	.	15.9381	0.79734	0.0:1.0:0.0:0.0	.	869;767;869;869	Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	S	869;869;869;767;767;869;869;869	ENSP00000377587:G869S;ENSP00000251768:G869S;ENSP00000352461:G767S;ENSP00000351513:G767S;ENSP00000350475:G869S;ENSP00000366859:G869S;ENSP00000366861:G869S	ENSP00000251768:G869S	G	-	1	0	SLC4A5	74313273	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.651000	0.83577	2.640000	0.89533	0.655000	0.94253	GGC		0.602	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			6	35	0	0	0	1	0	6	35				
EPHB6	2051	broad.mit.edu	37	7	142562010	142562010	+	Missense_Mutation	SNP	G	G	A	rs145358081	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:142562010G>A	ENST00000392957.2	+	7	1239	c.452G>A	c.(451-453)cGc>cAc	p.R151H	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R151H	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	151	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CACCTCAAACGCTGGACCAAG	0.627													G|||	6	0.00119808	0.0038	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(451-453)cGc>cAc		EPH receptor B6		G	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	58.0	62.0	61.0		452	3.7	1.0	7	dbSNP_134	61	0,8600		0,0,4300	yes	missense	EPHB6	NM_004445.3	29	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	probably-damaging	151/1022	142562010	11,12995	2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562010G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.452G>A	7.37:g.142562010G>A	ENSP00000376684:p.Arg151His					EPHB6_ENST00000442129.1_Missense_Mutation_p.R151H|EPHB6_ENST00000411471.2_Intron	p.R151H	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1239	+	Melanoma(164;0.059)		151					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.452G>A	CCDS5873.2	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	17.29	3.352637	0.61293	0.002497	0.0	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03717	3.83;3.83	5.6	3.66	0.41972	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.161551	0.29900	N	0.010912	T	0.02807	0.0084	L	0.29908	0.895	0.80722	D	1	B	0.29766	0.256	B	0.18263	0.021	T	0.52638	-0.8549	10	0.46703	T	0.11	.	6.9026	0.24291	0.1191:0.3984:0.4825:0.0	.	151	O15197	EPHB6_HUMAN	H	151	ENSP00000376684:R151H;ENSP00000410789:R151H	ENSP00000376684:R151H	R	+	2	0	EPHB6	142272132	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.125000	0.50469	1.270000	0.44297	0.655000	0.94253	CGC		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			27	67	0	0	0	1	0	27	67				
TRIP12	9320	broad.mit.edu	37	2	230643687	230643687	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:230643687G>T	ENST00000283943.5	-	34	5067	c.4889C>A	c.(4888-4890)cCt>cAt	p.P1630H	TRIP12_ENST00000389045.3_Missense_Mutation_p.P1360H|TRIP12_ENST00000389044.4_Missense_Mutation_p.P1678H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1630					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCCAGTGTAGGCCCAAGACC	0.408																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4888-4890)cCt>cAt		thyroid hormone receptor interactor 12							145.0	142.0	143.0					2																	230643687		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643687G>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4889C>A	2.37:g.230643687G>T	ENSP00000283943:p.Pro1630His					TRIP12_ENST00000389045.3_Missense_Mutation_p.P1360H|TRIP12_ENST00000389044.4_Missense_Mutation_p.P1678H	p.P1630H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	34	5067	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1630					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4889C>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808413	0.90707	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.51071	0.72;0.72;0.72	6.03	6.03	0.97812	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.994	T	0.75722	-0.3218	10	0.87932	D	0	.	20.1617	0.98138	0.0:0.0:1.0:0.0	.	1360;1678;1630	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	1630;1360;1678	ENSP00000283943:P1630H;ENSP00000373697:P1360H;ENSP00000373696:P1678H	ENSP00000283943:P1630H	P	-	2	0	TRIP12	230351931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.368000	0.97152	2.854000	0.98071	0.655000	0.94253	CCT		0.408	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		25	90	1	0	3.28513e-13	1	3.63621e-13	25	90				
USP6	9098	broad.mit.edu	37	17	5064823	5064823	+	Splice_Site	SNP	T	T	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:5064823T>A	ENST00000574788.1	+	32	5059	c.2829T>A	c.(2827-2829)cgT>cgA	p.R943R	USP6_ENST00000250066.6_Splice_Site_p.R943R|USP6_ENST00000304328.5_Splice_Site_p.R626R|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	943	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTGTTTCAGTGATAACTGTA	0.433			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.e32-1		ubiquitin specific peptidase 6 (Tre-2 oncogene)							136.0	125.0	129.0					17																	5064823		2203	4300	6503	SO:0001630	splice_region_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5064823T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2829-1T>A	17.37:g.5064823T>A						USP6_ENST00000304328.5_Splice_Site_p.R626_splice|USP6_ENST00000250066.6_Splice_Site_p.R943_splice|USP6_ENST00000332776.4_3'UTR	p.R943_splice			P35125	UBP6_HUMAN			32	5059	+			943					Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP	ENST00000574788.1	37	c.2828_splice	CCDS11069.2																																																																																				0.433	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	Silent	8	15	0	0	0	1	0	8	15				
ATE1	11101	broad.mit.edu	37	10	123662084	123662084	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:123662084C>T	ENST00000224652.6	-	6	720	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	ATE1_ENST00000481784.1_5'Flank|ATE1_ENST00000369040.3_Missense_Mutation_p.R116Q|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Missense_Mutation_p.R97Q|ATE1_ENST00000369043.3_Missense_Mutation_p.R212Q|ATE1_ENST00000540606.1_Missense_Mutation_p.R205Q	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	212					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CCTTTCTTTCCGGATTTCCTT	0.408																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(634-636)cGg>cAg		arginyltransferase 1							123.0	103.0	109.0					10																	123662084		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123662084C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.635G>A	10.37:g.123662084C>T	ENSP00000224652:p.Arg212Gln					ATE1_ENST00000369040.3_Missense_Mutation_p.R116Q|ATE1_ENST00000224652.6_Missense_Mutation_p.R212Q|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.R205Q|ATE1_ENST00000543447.1_Missense_Mutation_p.R97Q	p.R212Q	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			6	721	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	212					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.635G>A	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404294	0.96051	.	.	ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447;ENST00000455628	.	.	.	5.2	5.2	0.72013	.	0.059530	0.64402	D	0.000003	T	0.80237	0.4586	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;P;D	0.81914	0.979;0.922;0.856;0.995	T	0.81086	-0.1092	9	0.54805	T	0.06	-25.7655	18.9376	0.92592	0.0:1.0:0.0:0.0	.	205;116;212;212	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	Q	212;212;116;205;97;205	.	ENSP00000224652:R212Q	R	-	2	0	ATE1	123652074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.868000	0.75516	2.706000	0.92434	0.557000	0.71058	CGG		0.408	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		10	24	0	0	0	1	0	10	24				
CDH10	1008	broad.mit.edu	37	5	24491935	24491935	+	Splice_Site	SNP	A	A	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:24491935A>G	ENST00000264463.4	-	11	2133	c.1626T>C	c.(1624-1626)gaT>gaC	p.D542D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGGCAGTATTATCTAAAACAA	0.289										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.e11-1		cadherin 10, type 2 (T2-cadherin)							48.0	48.0	48.0					5																	24491935		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491935A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1625-1T>C	5.37:g.24491935A>G		HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.D542_splice	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2133	-			542			Cadherin 5.		Q9ULB3	Splice_Site	SNP	ENST00000264463.4	37	c.1624_splice	CCDS3892.1																																																																																				0.289	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Silent	5	15	0	0	0	1	0	5	15				
AURKC	6795	broad.mit.edu	37	19	57746758	57746758	+	Silent	SNP	G	G	T	rs140410966		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:57746758G>T	ENST00000302804.7	+	7	1089	c.903G>T	c.(901-903)ctG>ctT	p.L301L	AURKC_ENST00000599062.1_Silent_p.L298L|AURKC_ENST00000415300.2_Silent_p.L282L|AURKC_ENST00000448930.1_Silent_p.L267L|AURKC_ENST00000598785.1_Silent_p.L267L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	301					attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GAAGGGTGCTGCCTCCCTGTG	0.577																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(901-903)ctG>ctT		aurora kinase C		G	,,	0,4406		0,0,2203	80.0	81.0	81.0		903,846,801	-0.8	0.9	19	dbSNP_134	81	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AURKC	NM_001015878.1,NM_001015879.1,NM_003160.2	,,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,,	301/310,282/291,267/276	57746758	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746758G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.903G>T	19.37:g.57746758G>T						AURKC_ENST00000415300.2_Silent_p.L282L|AURKC_ENST00000448930.1_Silent_p.L267L|AURKC_ENST00000598785.1_Silent_p.L267L|AURKC_ENST00000599062.1_Silent_p.L298L	p.L301L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	7	1089	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	301					O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	c.903G>T	CCDS33128.1																																																																																				0.577	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		23	60	1	0	3.28513e-13	1	3.63621e-13	23	60				
NEK10	152110	broad.mit.edu	37	3	27157603	27157603	+	Missense_Mutation	SNP	A	A	G	rs111622636		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:27157603A>G	ENST00000429845.2	-	37	3739	c.3377T>C	c.(3376-3378)aTt>aCt	p.I1126T	NEK10_ENST00000383771.4_Missense_Mutation_p.I428T|NEK10_ENST00000295720.6_Missense_Mutation_p.I438T|NEK10_ENST00000383770.3_Missense_Mutation_p.I381T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1126					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCAATTCAATGCTGGTTGG	0.333																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3376-3378)aTt>aCt		NIMA-related kinase 10							61.0	63.0	62.0					3																	27157603		2203	4298	6501	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27157603A>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.3377T>C	3.37:g.27157603A>G	ENSP00000395849:p.Ile1126Thr					NEK10_ENST00000295720.6_Missense_Mutation_p.I438T|NEK10_ENST00000383771.4_Missense_Mutation_p.I428T|NEK10_ENST00000383770.3_Missense_Mutation_p.I381T	p.I1126T			Q6ZWH5	NEK10_HUMAN			37	3739	-			1126					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.3377T>C		.	.	.	.	.	.	.	.	.	.	A	4.419	0.077567	0.08485	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770	T;T;T	0.10668	2.85;2.92;3.08	5.29	2.92	0.33932	.	.	.	.	.	T	0.09024	0.0223	.	.	.	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.15870	0.014;0.0	T	0.13361	-1.0512	8	0.46703	T	0.11	.	8.2616	0.31788	0.8338:0.0:0.1662:0.0	.	438;381	Q6ZWH5-5;Q6ZWH5-7	.;.	T	438;428;381	ENSP00000295720:I438T;ENSP00000373281:I428T;ENSP00000373280:I381T	ENSP00000295720:I438T	I	-	2	0	NEK10	27132607	1.000000	0.71417	0.685000	0.30070	0.058000	0.15608	1.055000	0.30467	0.414000	0.25790	-0.371000	0.07208	ATT		0.333	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		7	25	0	0	0	1	0	7	25				
KIAA1429	25962	broad.mit.edu	37	8	95504027	95504027	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr8:95504027C>T	ENST00000297591.5	-	22	4994	c.4919G>A	c.(4918-4920)cGt>cAt	p.R1640H	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1640					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCTCTGACGAAAAATATC	0.453																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4918-4920)cGt>cAt		KIAA1429							159.0	145.0	150.0					8																	95504027		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95504027C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4919G>A	8.37:g.95504027C>T	ENSP00000297591:p.Arg1640His					KIAA1429_ENST00000437199.1_3'UTR	p.R1640H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		22	4994	-	Breast(36;3.29e-05)		1640					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4919G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267788	0.95399	.	.	ENSG00000164944	ENST00000297591	D	0.86097	-2.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93199	0.6590	10	0.87932	D	0	-11.8833	19.3054	0.94161	0.0:1.0:0.0:0.0	.	1640	Q69YN4	VIR_HUMAN	H	1640	ENSP00000297591:R1640H	ENSP00000297591:R1640H	R	-	2	0	KIAA1429	95573203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.568000	0.86640	0.650000	0.86243	CGT		0.453	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		17	86	0	0	0	1	0	17	86				
ZNF629	23361	broad.mit.edu	37	16	30795057	30795057	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr16:30795057G>A	ENST00000262525.4	-	3	799	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	198					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTGTGCGTGCGCTGGTGCTGC	0.672																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(592-594)Cgc>Tgc		zinc finger protein 629							50.0	52.0	51.0					16																	30795057		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795057G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.592C>T	16.37:g.30795057G>A	ENSP00000262525:p.Arg198Cys						p.R198C	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	799	-			198					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.592C>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706032	0.48412	.	.	ENSG00000102870	ENST00000262525	T	0.25749	1.78	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	T	0.52885	0.1762	M	0.82923	2.615	0.47819	D	0.999525	D	0.89917	1.0	D	0.81914	0.995	T	0.58053	-0.7704	10	0.87932	D	0	-59.7979	12.8538	0.57873	0.0:0.0:0.8366:0.1634	.	198	Q9UEG4	ZN629_HUMAN	C	198	ENSP00000262525:R198C	ENSP00000262525:R198C	R	-	1	0	ZNF629	30702558	0.838000	0.29461	1.000000	0.80357	0.990000	0.78478	0.407000	0.21049	2.570000	0.86706	0.561000	0.74099	CGC		0.672	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		11	35	0	0	0	1	0	11	35				
TNKS1BP1	85456	broad.mit.edu	37	11	57075893	57075893	+	Missense_Mutation	SNP	C	C	G	rs371891458		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:57075893C>G	ENST00000532437.1	-	5	4603	c.4292G>C	c.(4291-4293)gGa>gCa	p.G1431A	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1431A|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1431	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GAGGGCTTCTCCTGTCTCCAT	0.567																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4291-4293)gGa>gCa		tankyrase 1 binding protein 1, 182kDa		C	ALA/GLY	0,4402		0,0,2201	253.0	256.0	255.0		4292	0.8	0.0	11		255	1,8591	1.2+/-3.3	0,1,4295	no	missense	TNKS1BP1	NM_033396.2	60	0,1,6496	GG,GC,CC		0.0116,0.0,0.0077	benign	1431/1730	57075893	1,12993	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57075893C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4292G>C	11.37:g.57075893C>G	ENSP00000437271:p.Gly1431Ala					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1431A	p.G1431A			Q9C0C2	TB182_HUMAN			5	4603	-		all_epithelial(135;0.21)	1431			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4292G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985748	0.35036	0.0	1.16E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32515	1.45;1.45	4.1	0.795	0.18643	.	0.977204	0.08341	N	0.960792	T	0.23965	0.0580	L	0.50333	1.59	0.09310	N	1	B	0.31931	0.347	B	0.28784	0.094	T	0.23547	-1.0185	10	0.28530	T	0.3	-3.9228	5.6916	0.17833	0.0:0.4989:0.3889:0.1122	.	1431	Q9C0C2	TB182_HUMAN	A	1431	ENSP00000350990:G1431A;ENSP00000437271:G1431A	ENSP00000350990:G1431A	G	-	2	0	TNKS1BP1	56832469	0.000000	0.05858	0.049000	0.19019	0.094000	0.18550	-0.323000	0.07997	0.458000	0.26988	0.561000	0.74099	GGA		0.567	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		63	213	0	0	0	1	0	63	213				
FAM53A	152877	broad.mit.edu	37	4	1657255	1657255	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:1657255G>A	ENST00000308132.6	-	4	524	c.332C>T	c.(331-333)tCg>tTg	p.S111L	FAM53A_ENST00000461064.1_Missense_Mutation_p.S111L|FAM53A_ENST00000489363.1_Missense_Mutation_p.S111L|FAM53A_ENST00000472884.2_Missense_Mutation_p.S111L	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	111						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGCCGTGGACGAGCCTGTGCT	0.701																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(331-333)tCg>tTg		family with sequence similarity 53, member A							7.0	9.0	8.0					4																	1657255		1992	3952	5944	SO:0001583	missense	152877					nucleus		g.chr4:1657255G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.332C>T	4.37:g.1657255G>A	ENSP00000310057:p.Ser111Leu					FAM53A_ENST00000472884.2_Missense_Mutation_p.S111L|FAM53A_ENST00000461064.1_Missense_Mutation_p.S111L|FAM53A_ENST00000489363.1_Missense_Mutation_p.S111L	p.S111L	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	524	-		all_epithelial(65;0.206)|Breast(71;0.212)	111					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.332C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	G	4.783	0.145608	0.09134	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.74	1.57	0.23409	.	0.656404	0.13560	N	0.378899	T	0.24044	0.0582	N	0.22421	0.69	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.09377	0.002;0.004	T	0.20538	-1.0272	9	.	.	.	-7.4892	5.7385	0.18079	0.1185:0.0:0.2895:0.5921	.	111;111	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	L	111	ENSP00000310057:S111L;ENSP00000419044:S111L;ENSP00000418243:S111L;ENSP00000426260:S111L	.	S	-	2	0	FAM53A	1627052	0.996000	0.38824	0.008000	0.14137	0.004000	0.04260	1.058000	0.30504	0.101000	0.17610	-0.363000	0.07495	TCG		0.701	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		5	9	0	0	0	1	0	5	9				
RYR1	6261	broad.mit.edu	37	19	38976393	38976393	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:38976393G>A	ENST00000359596.3	+	34	5098	c.5098G>A	c.(5098-5100)Gcg>Acg	p.A1700T	RYR1_ENST00000355481.4_Missense_Mutation_p.A1700T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1700T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1700	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTGGAGGACGCGCACCTGCC	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5098-5100)Gcg>Acg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						51.0	52.0	52.0					19																	38976393		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976393G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5098G>A	19.37:g.38976393G>A	ENSP00000352608:p.Ala1700Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A1700T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1700T	p.A1700T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5229	+	all_cancers(60;7.91e-06)		1700			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5098G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505704	0.44558	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96651	-4.08;-4.08;-4.08	3.98	3.98	0.46160	.	0.168248	0.37178	U	0.002219	D	0.84160	0.5411	N	0.01705	-0.755	0.25747	N	0.985093	B;B	0.28178	0.202;0.181	B;B	0.17979	0.02;0.015	T	0.74811	-0.3538	10	0.23302	T	0.38	.	4.1347	0.10166	0.1967:0.2046:0.5987:0.0	.	1700;1700	P21817-2;P21817	.;RYR1_HUMAN	T	1700	ENSP00000352608:A1700T;ENSP00000347667:A1700T;ENSP00000354254:A1700T	ENSP00000347667:A1700T	A	+	1	0	RYR1	43668233	0.002000	0.14202	1.000000	0.80357	0.846000	0.48090	1.408000	0.34668	2.048000	0.60808	0.585000	0.79938	GCG		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	70	0	0	0	1	0	16	70				
ANKRD29	147463	broad.mit.edu	37	18	21214078	21214078	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr18:21214078G>A	ENST00000592179.1	-	5	520	c.366C>T	c.(364-366)taC>taT	p.Y122Y	ANKRD29_ENST00000284207.7_Silent_p.Y122Y|ANKRD29_ENST00000322980.9_Silent_p.Y122Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	122										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCATGTGCCCGTACTGACTGG	0.512																																						ENST00000592179.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13						c.(364-366)taC>taT		ankyrin repeat domain 29							105.0	82.0	90.0					18																	21214078		2203	4300	6503	SO:0001819	synonymous_variant	147463							g.chr18:21214078G>A	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.366C>T	18.37:g.21214078G>A						ANKRD29_ENST00000322980.9_Silent_p.Y122Y|ANKRD29_ENST00000284207.7_Silent_p.Y122Y	p.Y122Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN			5	520	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		122					B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	37	c.366C>T	CCDS11879.1																																																																																				0.512	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		15	46	0	0	0	1	0	15	46				
RELB	5971	broad.mit.edu	37	19	45515201	45515201	+	Silent	SNP	C	C	T	rs386809715		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:45515201C>T	ENST00000221452.8	+	4	321	c.171C>T	c.(169-171)atC>atT	p.I57I	RELB_ENST00000505236.1_Silent_p.I54I|RELB_ENST00000540120.1_Silent_p.I57I	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	57	Leucine-zipper.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGAGATCATCGACGAGTACA	0.557																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(169-171)atC>atT		v-rel avian reticuloendotheliosis viral oncogene homolog B							14.0	15.0	14.0					19																	45515201		1780	3841	5621	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515201C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.171C>T	19.37:g.45515201C>T						RELB_ENST00000540120.1_Silent_p.I57I|RELB_ENST00000505236.1_Silent_p.I54I	p.I57I	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	321	+		Ovarian(192;0.0728)|all_neural(266;0.112)	57			Leucine-zipper.		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.171C>T	CCDS46110.1																																																																																				0.557	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			3	15	0	0	0	1	0	3	15				
SLC39A10	57181	broad.mit.edu	37	2	196545452	196545452	+	Missense_Mutation	SNP	C	C	T	rs139926734		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:196545452C>T	ENST00000409086.3	+	2	961	c.686C>T	c.(685-687)cCg>cTg	p.P229L	SLC39A10_ENST00000359634.5_Missense_Mutation_p.P229L|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	229					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTTAAACTACCGAAAGGAAAG	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22414	0.0		0.0	False		,,,				2504	0.0					ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(685-687)cCg>cTg		solute carrier family 39 (zinc transporter), member 10							76.0	77.0	77.0					2																	196545452		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545452C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.686C>T	2.37:g.196545452C>T	ENSP00000386766:p.Pro229Leu					SLC39A10_ENST00000359634.5_Missense_Mutation_p.P229L|SLC39A10_ENST00000541054.1_Intron	p.P229L	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	961	+			229					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.686C>T	CCDS33353.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.156	0.027302	0.08054	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.63744	-0.06;-0.06	4.82	-9.65	0.00537	.	1.616320	0.03522	N	0.221155	T	0.36358	0.0964	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10989	-1.0606	10	0.23302	T	0.38	.	1.7852	0.03040	0.1658:0.1375:0.3276:0.3691	.	229	Q9ULF5	S39AA_HUMAN	L	229	ENSP00000386766:P229L;ENSP00000352655:P229L	ENSP00000352655:P229L	P	+	2	0	SLC39A10	196253697	0.000000	0.05858	0.000000	0.03702	0.988000	0.76386	-0.800000	0.04555	-1.586000	0.01632	0.591000	0.81541	CCG		0.413	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		9	35	0	0	0	1	0	9	35				
FGD1	2245	broad.mit.edu	37	X	54475631	54475631	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:54475631T>A	ENST00000375135.3	-	15	2952	c.2219A>T	c.(2218-2220)cAg>cTg	p.Q740L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	740					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAAGGGCTCCTGGCAGCGCAT	0.602																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2218-2220)cAg>cTg		FYVE, RhoGEF and PH domain containing 1							98.0	81.0	87.0					X																	54475631		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54475631T>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2219A>T	X.37:g.54475631T>A	ENSP00000364277:p.Gln740Leu						p.Q740L	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			15	2952	-			740					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2219A>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578408	0.45902	.	.	ENSG00000102302	ENST00000375135	T	0.72505	-0.66	5.3	5.3	0.74995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.49916	D	0.000128	T	0.66287	0.2774	L	0.46885	1.475	0.38782	D	0.954782	B;B	0.16396	0.011;0.017	B;B	0.25987	0.021;0.065	T	0.66504	-0.5907	10	0.54805	T	0.06	-13.7661	13.2603	0.60101	0.0:0.0:0.0:1.0	.	498;740	B4DS99;P98174	.;FGD1_HUMAN	L	740	ENSP00000364277:Q740L	ENSP00000364277:Q740L	Q	-	2	0	FGD1	54492356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.783000	0.55409	1.773000	0.52216	0.417000	0.27973	CAG		0.602	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		3	42	0	0	0	1	0	3	42				
ATXN10	25814	broad.mit.edu	37	22	46125410	46125410	+	Silent	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr22:46125410C>T	ENST00000252934.5	+	7	1099	c.834C>T	c.(832-834)acC>acT	p.T278T	ATXN10_ENST00000381061.4_Silent_p.T214T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	278					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTGCAAGCACCTTTGTGGATC	0.488																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(832-834)acC>acT		ataxin 10							172.0	129.0	143.0					22																	46125410		2203	4300	6503	SO:0001819	synonymous_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46125410C>T	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.834C>T	22.37:g.46125410C>T						ATXN10_ENST00000381061.4_Silent_p.T214T	p.T278T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	7	1099	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	278					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	c.834C>T	CCDS14070.1																																																																																				0.488	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		12	61	0	0	0	1	0	12	61				
CEP250	11190	broad.mit.edu	37	20	34053609	34053609	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr20:34053609C>A	ENST00000397527.1	+	6	1005	c.285C>A	c.(283-285)aaC>aaA	p.N95K	CEP250_ENST00000342580.4_Missense_Mutation_p.N95K|CEP250_ENST00000397524.1_Missense_Mutation_p.N95K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	95					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGAGCCAAACCTGGATGAGC	0.542																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(283-285)aaC>aaA		centrosomal protein 250kDa							107.0	87.0	94.0					20																	34053609		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34053609C>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.285C>A	20.37:g.34053609C>A	ENSP00000380661:p.Asn95Lys					CEP250_ENST00000397524.1_Missense_Mutation_p.N95K|CEP250_ENST00000342580.4_Missense_Mutation_p.N95K	p.N95K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		6	1005	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		95					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.285C>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131300	0.21041	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.44083	2.89;2.89;0.93;1.9	5.76	2.62	0.31277	.	0.438292	0.21313	N	0.076607	T	0.31827	0.0809	L	0.56769	1.78	0.29416	N	0.860913	B	0.20261	0.043	B	0.21151	0.033	T	0.18272	-1.0342	10	0.36615	T	0.2	.	1.7733	0.03016	0.1741:0.4975:0.1492:0.1792	.	95	Q9BV73	CP250_HUMAN	K	95	ENSP00000380661:N95K;ENSP00000341541:N95K;ENSP00000380658:N95K;ENSP00000413827:N95K	ENSP00000341541:N95K	N	+	3	2	CEP250	33517023	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	1.340000	0.33896	1.430000	0.47334	-0.136000	0.14681	AAC		0.542	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		4	10	1	0	0.150653	1	0.1517	4	10				
TNK2	10188	broad.mit.edu	37	3	195599248	195599248	+	Silent	SNP	C	C	T	rs112025939		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:195599248C>T	ENST00000333602.6	-	10	1967	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	TNK2_ENST00000428187.1_Silent_p.S482S|TNK2_ENST00000316664.3_Silent_p.S450S|TNK2_ENST00000392400.1_Silent_p.S450S|TNK2_ENST00000381916.2_Silent_p.S513S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	450				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGTCCTGGGCCGACAGGCCGG	0.672																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1348-1350)tcG>tcA		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						57.0	48.0	51.0					3																	195599248		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599248C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1350G>A	3.37:g.195599248C>T						TNK2_ENST00000392400.1_Silent_p.S450S|TNK2_ENST00000381916.2_Silent_p.S513S|TNK2_ENST00000316664.3_Silent_p.S450S|TNK2_ENST00000428187.1_Silent_p.S482S	p.S450S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1967	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	450	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.1350G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086436	0.20390	.	.	ENSG00000061938	ENST00000424563	.	.	.	5.45	-9.6	0.00553	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47328	-0.9126	4	.	.	.	.	4.6187	0.12438	0.2009:0.4602:0.1027:0.2362	.	.	.	.	Q	60	.	.	R	-	2	0	TNK2	197083645	0.000000	0.05858	0.706000	0.30403	0.815000	0.46073	-4.287000	0.00259	-1.852000	0.01166	-1.402000	0.01139	CGG		0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		16	53	0	0	0	1	0	16	53				
PCDHA11	56138	broad.mit.edu	37	5	140250635	140250635	+	Silent	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr5:140250635G>A	ENST00000398640.2	+	1	1947	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGTACTGGTGAAGGATC	0.667																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1945-1947)ctG>ctA									34.0	40.0	38.0					5																	140250635		2203	4297	6500	SO:0001819	synonymous_variant	56138							g.chr5:140250635G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1947G>A	5.37:g.140250635G>A						PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.L649L	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1947	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1947G>A	CCDS47284.1																																																																																				0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		26	63	0	0	0	1	0	26	63				
HSD17B7P2	158160	broad.mit.edu	37	10	38647361	38647361	+	RNA	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr10:38647361C>T	ENST00000494540.1	+	0	232					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		GGCCTCTCACCCCACTGCTGA	0.537																																						ENST00000494540.1																			0																																																			158160							g.chr10:38647361C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38647361C>T								NR_003086.1						0	232	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.537	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	24	0	0	0	1	0	7	24				
IQCA1	79781	broad.mit.edu	37	2	237374200	237374200	+	Missense_Mutation	SNP	C	C	A	rs372874538		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:237374200C>A	ENST00000409907.3	-	6	1148	c.874G>T	c.(874-876)Gat>Tat	p.D292Y	IQCA1_ENST00000431676.2_Missense_Mutation_p.D292Y|IQCA1_ENST00000309507.5_Missense_Mutation_p.D288Y	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	292							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCTTGATATCCACGCCTTCT	0.483																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(874-876)Gat>Tat		IQ motif containing with AAA domain 1							165.0	156.0	159.0					2																	237374200		1993	4154	6147	SO:0001583	missense	79781						ATP binding	g.chr2:237374200C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.874G>T	2.37:g.237374200C>A	ENSP00000387347:p.Asp292Tyr					IQCA1_ENST00000431676.2_Missense_Mutation_p.D292Y|IQCA1_ENST00000309507.5_Missense_Mutation_p.D288Y	p.D292Y			Q86XH1	IQCA1_HUMAN			6	1148	-			292					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.874G>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.66|13.66	2.304258|2.304258	0.40795|0.40795	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.94828|.	-3.4;-3.41;-3.53|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.79435|0.79435	0.4445|0.4445	M|M	0.85197|0.85197	2.74|2.74	0.47407|0.47407	D|D	0.999411|0.999411	D;D;D|.	0.89917|.	0.992;1.0;1.0|.	D;D;D|.	0.83275|.	0.921;0.996;0.971|.	T|T	0.81579|0.81579	-0.0868|-0.0868	10|5	0.62326|.	D|.	0.03|.	.|.	16.2733|16.2733	0.82630|0.82630	0.0:0.8678:0.1322:0.0|0.0:0.8678:0.1322:0.0	.|.	292;299;292|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	Y|V	292;299;288;292;288|310	ENSP00000387347:D292Y;ENSP00000311951:D288Y;ENSP00000407213:D292Y|.	ENSP00000254653:D292Y|.	D|G	-|-	1|2	0|0	IQCA1|IQCA1	237038939|237038939	0.973000|0.973000	0.33851|0.33851	0.913000|0.913000	0.36048|0.36048	0.008000|0.008000	0.06430|0.06430	2.353000|2.353000	0.44089|0.44089	2.551000|2.551000	0.86045|0.86045	0.563000|0.563000	0.77884|0.77884	GAT|GGA		0.483	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		3	25	1	0	0.00024832	1	0.000259039	3	25				
DMXL2	23312	broad.mit.edu	37	15	51743860	51743860	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr15:51743860C>T	ENST00000251076.5	-	41	8952	c.8665G>A	c.(8665-8667)Gga>Aga	p.G2889R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G2890R|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G2253R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2889						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGCTGTTTCCGGGTGATATT	0.323																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(8665-8667)Gga>Aga		Dmx-like 2							77.0	74.0	75.0					15																	51743860		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51743860C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8665G>A	15.37:g.51743860C>T	ENSP00000251076:p.Gly2889Arg					DMXL2_ENST00000449909.3_Missense_Mutation_p.G2253R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2890R|RP11-707P17.1_ENST00000561007.1_RNA	p.G2889R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	41	8952	-			2889					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.8665G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426156	0.25726	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01287	5.05;5.05;5.05	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.156674	0.56097	D	0.000023	T	0.00998	0.0033	N	0.12182	0.205	0.33602	D	0.602509	B;D;P;B	0.60160	0.028;0.987;0.814;0.005	B;B;B;B	0.42798	0.008;0.398;0.115;0.002	T	0.62148	-0.6915	10	0.16420	T	0.52	.	6.9217	0.24391	0.1464:0.7115:0.0:0.1421	.	2890;2253;2889;2890	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2889;2890;2253;455	ENSP00000251076:G2889R;ENSP00000441858:G2890R;ENSP00000400855:G2253R	ENSP00000251076:G2889R	G	-	1	0	DMXL2	49531152	0.991000	0.36638	1.000000	0.80357	0.965000	0.64279	2.495000	0.45337	2.621000	0.88768	0.650000	0.86243	GGA		0.323	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		7	19	0	0	0	1	0	7	19				
GRM1	2911	broad.mit.edu	37	6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	rs553512718		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.001		0.0	False		,,,				2504	0.0					ENST00000392299.2																			1	Substitution - Missense(1)	p.R275H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(823-825)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93.0	84.0	87.0					6																	146480607		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480607G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His					GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H	p.R275H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1294	+		Ovarian(120;0.0387)	275					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.824G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	43	0	0	0	1	0	3	43				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	59	0	0	0	1	0	5	59				
APOA1BP	128240	broad.mit.edu	37	1	156562233	156562233	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:156562233A>T	ENST00000368235.3	+	3	411	c.368A>T	c.(367-369)gAt>gTt	p.D123V	APOA1BP_ENST00000368234.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000368233.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AATGGAGGAGATGGTCTGGTC	0.587																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(367-369)gAt>gTt		apolipoprotein A-I binding protein							134.0	130.0	132.0					1																	156562233		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156562233A>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.368A>T	1.37:g.156562233A>T	ENSP00000357218:p.Asp123Val					APOA1BP_ENST00000368234.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000368233.3_Missense_Mutation_p.D123V|APOA1BP_ENST00000467374.1_3'UTR	p.D123V	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			3	411	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		123			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.368A>T	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257317	0.80246	.	.	ENSG00000163382	ENST00000446584;ENST00000368234;ENST00000368235;ENST00000368233	T;T;T	0.61510	0.1;0.1;0.1	4.41	3.18	0.36537	YjeF-related protein, N-terminal (5);	0.056370	0.64402	D	0.000002	T	0.72399	0.3455	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.76623	-0.2891	10	0.62326	D	0.03	.	9.0376	0.36298	0.8353:0.0:0.0:0.1646	.	123;123;123	Q5T3I3;Q8NCW5;Q5T3I4	.;AIBP_HUMAN;.	V	141;123;123;123	ENSP00000357217:D123V;ENSP00000357218:D123V;ENSP00000357216:D123V	ENSP00000357216:D123V	D	+	2	0	APOA1BP	154828857	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.047000	0.71038	1.765000	0.52091	0.533000	0.62120	GAT		0.587	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		19	76	0	0	0	1	0	19	76				
AFM	173	broad.mit.edu	37	4	74357800	74357800	+	Missense_Mutation	SNP	C	C	G	rs151113361		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:74357800C>G	ENST00000226355.3	+	8	1148	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	352	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTTCTTTGCGAAGTAATAT	0.343																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1054-1056)gCg>gGg		afamin							57.0	58.0	57.0					4																	74357800		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74357800C>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1055C>G	4.37:g.74357800C>G	ENSP00000226355:p.Ala352Gly						p.A352G	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1148	+	Breast(15;0.00102)		352			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1055C>G	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774923	0.49786	.	.	ENSG00000079557	ENST00000226355	T	0.72282	-0.64	4.87	1.96	0.26148	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.677921	0.14346	N	0.325415	T	0.58680	0.2139	L	0.40543	1.245	0.23238	N	0.998064	P	0.48503	0.911	B	0.42916	0.402	T	0.52155	-0.8613	10	0.62326	D	0.03	.	4.9738	0.14129	0.3736:0.5261:0.0:0.1003	.	352	P43652	AFAM_HUMAN	G	352	ENSP00000226355:A352G	ENSP00000226355:A352G	A	+	2	0	AFM	74576664	0.080000	0.21391	0.910000	0.35882	0.771000	0.43674	0.283000	0.18846	0.467000	0.27218	0.449000	0.29647	GCG		0.343	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			8	48	0	0	0	1	0	8	48				
PEG3	5178	broad.mit.edu	37	19	57326722	57326722	+	Missense_Mutation	SNP	G	G	A	rs368105379		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:57326722G>A	ENST00000326441.9	-	10	3451	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	PEG3_ENST00000598410.1_Missense_Mutation_p.R906W|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1030W|PEG3_ENST00000593695.1_Missense_Mutation_p.R904W|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1030					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATTTGTTCCGCGCTTGCTCT	0.468																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3088-3090)Cgg>Tgg		paternally expressed 3		A	,,,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	95.0	86.0	89.0		,,,3088,2716,3088,2710,3088	0.7	0.0	19		89	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146326.1,NM_001146327.1,NM_015363.4,NM_006210.2,NM_001146187.1,NM_001146186.1,NM_001146185.1,NM_001146184.1	,,,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,benign,benign,benign,benign,benign	,,,1030/1589,906/1465,1030/1589,904/1463,1030/1589	57326722	1,13005	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326722G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3088C>T	19.37:g.57326722G>A	ENSP00000326581:p.Arg1030Trp					PEG3_ENST00000423103.2_Missense_Mutation_p.R1030W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R904W|PEG3_ENST00000598410.1_Missense_Mutation_p.R906W|ZIM2_ENST00000391708.3_Intron	p.R1030W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3451	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1030					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3088C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	g	0.981	-0.697101	0.03279	0.0	1.16E-4	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03004	4.08;4.08	4.09	0.724	0.18236	.	1.463730	0.04145	N	0.320233	T	0.05456	0.0144	N	0.26130	0.795	.	.	.	D;B;B	0.63880	0.993;0.014;0.014	P;B;B	0.50352	0.638;0.003;0.003	T	0.39921	-0.9590	9	0.31617	T	0.26	.	6.8286	0.23897	0.1786:0.1458:0.6756:0.0	.	906;1030;965	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	1030	ENSP00000326581:R1030W;ENSP00000403051:R1030W	ENSP00000326581:R1030W	R	-	1	2	ZIM2	62018534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.078000	0.11375	0.036000	0.15547	-1.733000	0.00692	CGG		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			16	31	0	0	0	1	0	16	31				
RPS6KA3	6197	broad.mit.edu	37	X	20190989	20190989	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:20190989G>A	ENST00000379565.3	-	15	1435	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	RPS6KA3_ENST00000379548.4_Intron|RPS6KA3_ENST00000540702.1_Intron|RPS6KA3_ENST00000479809.1_5'Flank|RPS6KA3_ENST00000544447.1_Splice_Site_p.Q382*	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	410				Missing (in Ref. 3; BAD92170). {ECO:0000305}.	axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	CTGTGTAACTGCTACAAAAAA	0.353																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.e15-1		ribosomal protein S6 kinase, 90kDa, polypeptide 3							54.0	50.0	51.0					X																	20190989		2202	4297	6499	SO:0001630	splice_region_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20190989G>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1228-1C>T	X.37:g.20190989G>A						RPS6KA3_ENST00000379548.4_Intron|RPS6KA3_ENST00000544447.1_Splice_Site_p.Q382_splice|RPS6KA3_ENST00000540702.1_Intron	p.Q410_splice	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			15	1435	-			410	Missing (in Ref. 3; BAD92170).				B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Splice_Site	SNP	ENST00000379565.3	37	c.1227_splice	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	G	42	9.359896	0.99148	.	.	ENSG00000177189	ENST00000379565;ENST00000544447	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.4883	0.50367	0.085:0.0:0.915:0.0	.	.	.	.	X	410;382	.	ENSP00000368884:Q410X	Q	-	1	0	RPS6KA3	20100910	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.780000	0.75063	2.253000	0.74438	0.600000	0.82982	CAG		0.353	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	Nonsense_Mutation	7	6	0	0	0	1	0	7	6				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	58	0	0	0	1	0	5	58				
RBMXL2	27288	broad.mit.edu	37	11	7111346	7111346	+	Missense_Mutation	SNP	G	G	A	rs373944375		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:7111346G>A	ENST00000306904.5	+	1	1182	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	332	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTTATGGCCGGAGCGACCGC	0.652																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(994-996)cGg>cAg		RNA binding motif protein, X-linked-like 2		G	GLN/ARG	0,4396		0,0,2198	20.0	21.0	21.0		995	3.7	1.0	11		21	1,8581		0,1,4290	no	missense	RBMXL2	NM_014469.4	43	0,1,6488	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	332/393	7111346	1,12977	2198	4291	6489	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111346G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.995G>A	11.37:g.7111346G>A	ENSP00000304139:p.Arg332Gln						p.R332Q	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1182	+			332			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.995G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168288	0.57584	0.0	1.17E-4	ENSG00000170748	ENST00000306904	T	0.79141	-1.24	3.73	3.73	0.42828	.	0.000000	0.64402	U	0.000001	T	0.82047	0.4952	L	0.39898	1.24	0.45648	D	0.998572	D	0.89917	1.0	D	0.76575	0.988	T	0.82436	-0.0458	10	0.49607	T	0.09	.	13.8214	0.63322	0.0:0.0:1.0:0.0	.	332	O75526	HNRGT_HUMAN	Q	332	ENSP00000304139:R332Q	ENSP00000304139:R332Q	R	+	2	0	RBMXL2	7067922	1.000000	0.71417	0.973000	0.42090	0.853000	0.48598	8.675000	0.91195	2.365000	0.80145	0.563000	0.77884	CGG		0.652	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		6	33	0	0	0	1	0	6	33				
PTPN14	5784	broad.mit.edu	37	1	214557391	214557391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:214557391G>A	ENST00000366956.5	-	13	2001	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	603					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACCGAGAGCTGCACCTTCCGG	0.662																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1807-1809)Cag>Tag		protein tyrosine phosphatase, non-receptor type 14							37.0	43.0	41.0					1																	214557391		2203	4300	6503	SO:0001587	stop_gained	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557391G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1807C>T	1.37:g.214557391G>A	ENSP00000355923:p.Gln603*					PTPN14_ENST00000543945.1_3'UTR	p.Q603*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2001	-			603					Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	c.1807C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	41	8.633279	0.98892	.	.	ENSG00000152104	ENST00000366956	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.0011	0.97409	0.0:0.0:1.0:0.0	.	.	.	.	X	603	.	ENSP00000355923:Q603X	Q	-	1	0	PTPN14	212624014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.662000	0.98603	2.735000	0.93741	0.557000	0.71058	CAG		0.662	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		10	31	0	0	0	1	0	10	31				
KLHL4	56062	broad.mit.edu	37	X	86880613	86880613	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chrX:86880613C>A	ENST00000373119.4	+	6	1286	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	KLHL4_ENST00000373114.4_Missense_Mutation_p.L381M	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	381						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTTTCAGTTACTGGCAGATCT	0.408																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1141-1143)Ctg>Atg		kelch-like family member 4							87.0	75.0	79.0					X																	86880613		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86880613C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1141C>A	X.37:g.86880613C>A	ENSP00000362211:p.Leu381Met					KLHL4_ENST00000373114.4_Missense_Mutation_p.L381M	p.L381M	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			6	1286	+			381					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1141C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274272	0.59649	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78595	-1.19;-1.19	4.89	3.09	0.35607	BTB/Kelch-associated (2);	0.078141	0.52532	D	0.000066	D	0.85522	0.5716	M	0.92367	3.3	0.58432	D	0.999991	D;D	0.60160	0.971;0.987	P;P	0.52793	0.706;0.709	D	0.86758	0.1965	10	0.72032	D	0.01	.	9.2277	0.37416	0.0:0.8184:0.0:0.1816	.	381;381	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	M	381	ENSP00000362211:L381M;ENSP00000362206:L381M	ENSP00000362206:L381M	L	+	1	2	KLHL4	86767269	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.614000	0.54160	0.968000	0.38212	0.513000	0.50165	CTG		0.408	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			9	9	1	0	2.17888e-05	1	2.30611e-05	9	9				
CLCA4	22802	broad.mit.edu	37	1	87040331	87040331	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:87040331C>G	ENST00000370563.3	+	10	1618	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	526					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATGGAACAGTCTGCCTCCCAG	0.423																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1576-1578)Ctg>Gtg		chloride channel accessory 4							101.0	98.0	99.0					1																	87040331		1911	4121	6032	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87040331C>G	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1576C>G	1.37:g.87040331C>G	ENSP00000359594:p.Leu526Val					RP4-651E10.4_ENST00000456587.1_RNA	p.L526V	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	10	1618	+		Lung NSC(277;0.238)	526					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1576C>G	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052396	0.19827	.	.	ENSG00000016602	ENST00000370563	T	0.29917	1.55	5.89	0.542	0.17174	Domain of unknown function DUF1973 (1);	0.882556	0.09682	N	0.769562	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.43081	-0.9413	10	0.27785	T	0.31	1.8801	12.0651	0.53583	0.2256:0.3366:0.4378:0.0	.	78;526	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	V	526	ENSP00000359594:L526V	ENSP00000359594:L526V	L	+	1	2	CLCA4	86812919	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.420000	0.07062	-0.142000	0.11354	0.655000	0.94253	CTG		0.423	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		13	49	0	0	0	1	0	13	49				
AP2A2	161	broad.mit.edu	37	11	977193	977193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:977193G>A	ENST00000448903.2	+	5	713	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	AP2A2_ENST00000534328.1_Missense_Mutation_p.R191Q|AP2A2_ENST00000332231.5_Missense_Mutation_p.R191Q	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	191					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)		TGGACATCCCGAGTGGTGCAC	0.607																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(571-573)cGa>cAa		adaptor-related protein complex 2, alpha 2 subunit							57.0	65.0	62.0					11																	977193		2120	4216	6336	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:977193G>A	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.572G>A	11.37:g.977193G>A	ENSP00000413234:p.Arg191Gln					AP2A2_ENST00000534328.1_Missense_Mutation_p.R191Q|AP2A2_ENST00000332231.5_Missense_Mutation_p.R191Q	p.R191Q	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		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)	5	713	+		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)	191					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.572G>A	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	g	12.17	1.857150	0.32791	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000534485;ENST00000329626	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	2.8	1.89	0.25635	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.49253	0.1546	M	0.84156	2.68	0.33352	D	0.571259	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.74674	0.464;0.984;0.983	T	0.64795	-0.6323	10	0.87932	D	0	-23.7096	10.3947	0.44194	0.1007:0.0:0.8993:0.0	.	84;191;191	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	Q	31;191;191;191;191;191;181;64	ENSP00000437228:R31Q;ENSP00000436059:R191Q;ENSP00000413234:R191Q;ENSP00000327694:R191Q;ENSP00000435756:R181Q	ENSP00000328024:R64Q	R	+	2	0	AP2A2	967193	1.000000	0.71417	0.017000	0.16124	0.004000	0.04260	9.511000	0.98006	0.766000	0.33244	-0.235000	0.12190	CGA		0.607	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		6	22	0	0	0	1	0	6	22				
MAP3K13	9175	broad.mit.edu	37	3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1810-1812)Gca>Aca		mitogen-activated protein kinase kinase kinase 13							267.0	290.0	282.0					3																	185190929		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190929G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1810G>A	3.37:g.185190929G>A	ENSP00000265026:p.Ala604Thr					MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T	p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	2144	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		604						Missense_Mutation	SNP	ENST00000265026.3	37	c.1810G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628329	0.28978	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.47	3.66	0.41972	Protein kinase-like domain (1);	0.272838	0.34156	N	0.004210	T	0.33585	0.0868	N	0.14661	0.345	0.20074	N	0.999937	B;B;B	0.20671	0.047;0.047;0.01	B;B;B	0.17433	0.018;0.018;0.008	T	0.20672	-1.0268	10	0.37606	T	0.19	.	10.9504	0.47325	0.0684:0.0:0.8033:0.1283	.	460;397;604	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	397;604;460;460;604	ENSP00000411483:A397T;ENSP00000399910:A604T;ENSP00000409325:A460T;ENSP00000439257:A460T;ENSP00000265026:A604T	ENSP00000265026:A604T	A	+	1	0	MAP3K13	186673623	1.000000	0.71417	0.015000	0.15790	0.037000	0.13140	5.110000	0.64622	1.291000	0.44653	-0.268000	0.10319	GCA		0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		5	388	0	0	0	1	0	5	388				
FAT1	2195	broad.mit.edu	37	4	187521451	187521451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:187521451G>A	ENST00000441802.2	-	22	11913	c.11704C>T	c.(11704-11706)Cag>Tag	p.Q3902*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3902	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						TGAATGCTCTGAACAGAGACA	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(11704-11706)Cag>Tag		FAT atypical cadherin 1							45.0	43.0	44.0					4																	187521451		1994	4162	6156	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521451G>A	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.11704C>T	4.37:g.187521451G>A	ENSP00000406229:p.Gln3902*	HNSCC(5;0.00058)					p.Q3902*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	11913	-			3902			Laminin G-like.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.11704C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	54	21.781626	0.99943	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.94	4.94	0.65067	.	0.055817	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	18.7161	0.91677	0.0:0.0:1.0:0.0	.	.	.	.	X	3902;3904	.	ENSP00000260147:Q3904X	Q	-	1	0	FAT1	187758445	1.000000	0.71417	0.374000	0.26016	0.984000	0.73092	7.640000	0.83355	2.726000	0.93360	0.655000	0.94253	CAG		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		5	11	0	0	0	1	0	5	11				
SNX13	23161	broad.mit.edu	37	7	17833690	17833690	+	Silent	SNP	C	C	T	rs184459414		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:17833690C>T	ENST00000428135.3	-	26	3051	c.2853G>A	c.(2851-2853)gcG>gcA	p.A951A	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	962					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCAAAGAAGGCGCTTGAGTAG	0.398													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19687	0.0		0.0	False		,,,				2504	0.0					ENST00000428135.3																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2851-2853)gcG>gcA		sorting nexin 13		C		0,3712		0,0,1856	120.0	114.0	116.0		2853	3.9	1.0	7		116	2,8200		0,2,4099	no	coding-synonymous	SNX13	NM_015132.4		0,2,5955	TT,TC,CC		0.0244,0.0,0.0168		951/958	17833690	2,11912	1856	4101	5957	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17833690C>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000428135.3:c.2853G>A	7.37:g.17833690C>T						SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR	p.A951A	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN			26	3051	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		962					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000428135.3	37	c.2853G>A	CCDS47551.1																																																																																				0.398	SNX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327607.2	NM_015132		6	16	0	0	0	1	0	6	16				
CLOCK	9575	broad.mit.edu	37	4	56301652	56301652	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr4:56301652T>A	ENST00000309964.4	-	22	2721	c.2471A>T	c.(2470-2472)cAg>cTg	p.Q824L	CLOCK_ENST00000513440.1_Missense_Mutation_p.Q824L|CLOCK_ENST00000381322.1_Missense_Mutation_p.Q824L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	824	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Poly-Gln.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CTGCTGTTGCTGAGACTGATG	0.527																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2470-2472)cAg>cTg		clock circadian regulator							271.0	228.0	243.0					4																	56301652		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56301652T>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2471A>T	4.37:g.56301652T>A	ENSP00000308741:p.Gln824Leu					CLOCK_ENST00000381322.1_Missense_Mutation_p.Q824L|CLOCK_ENST00000513440.1_Missense_Mutation_p.Q824L	p.Q824L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		22	2721	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		824			Poly-Gln.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.2471A>T	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435505	0.43224	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.06142	3.34;3.34;3.34	5.25	5.25	0.73442	.	0.681444	0.15471	N	0.260587	T	0.14570	0.0352	L	0.32530	0.975	0.52099	D	0.999949	D	0.54601	0.967	P	0.62382	0.901	T	0.02860	-1.1101	10	0.42905	T	0.14	.	14.2569	0.66058	0.0:0.0:0.0:1.0	.	824	O15516	CLOCK_HUMAN	L	824	ENSP00000308741:Q824L;ENSP00000370723:Q824L;ENSP00000426983:Q824L	ENSP00000308741:Q824L	Q	-	2	0	CLOCK	55996409	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	4.553000	0.60753	2.198000	0.70561	0.533000	0.62120	CAG		0.527	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		4	102	0	0	0	1	0	4	102				
EPHA2	1969	broad.mit.edu	37	1	16475080	16475094	+	In_Frame_Del	DEL	GCAGCAGCTCGGGGC	GCAGCAGCTCGGGGC	-	rs201175373		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:16475080_16475094delGCAGCAGCTCGGGGC	ENST00000358432.5	-	3	756_770	c.602_616delGCCCCGAGCTGCTGC	c.(601-618)tgccccgagctgctgcag>tag	p.201_206CPELLQ>*	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	201	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCCAGGCCCTGCAGCAGCTCGGGGCACTTCTTGTA	0.665																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(601-618)tag>t		EPH receptor A2	Dasatinib(DB01254)																																			SO:0001651	inframe_deletion	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475080_16475094delGCAGCAGCTCGGGGC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.602_616delGCCCCGAGCTGCTGC	1.37:g.16475080_16475094delGCAGCAGCTCGGGGC	ENSP00000351209:p.Cys201_Gln206delins*					EPHA2_ENST00000461614.1_5'UTR	p.CPELLQ201del	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	756_770	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	201			Cys-rich.		B5A968|Q8N3Z2	In_Frame_Del	DEL	ENST00000358432.5	37	c.602_616delGCCCCGAGCTGCTGC	CCDS169.1																																																																																				0.665	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		16	25						16	25	---	---	---	---
NES	10763	broad.mit.edu	37	1	156639587	156639590	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr1:156639587_156639590delCACT	ENST00000368223.3	-	4	4522_4525	c.4390_4393delAGTG	c.(4390-4395)agtgtcfs	p.SV1466fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1466	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGACACTGACACTCACAGAATCA	0.637																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(4390-4395)tcfs		nestin																																				SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639587_156639590delCACT	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4390_4393delAGTG	1.37:g.156639587_156639590delCACT	ENSP00000357206:p.Ser1466fs						p.SV1466fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4522_4525	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1466			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	c.4390_4393delAGTG	CCDS1151.1																																																																																				0.637	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		11	52						11	52	---	---	---	---
NIFK-AS1	254128	broad.mit.edu	37	2	122466739	122466740	+	RNA	INS	-	-	T	rs201278872|rs6733674|rs201879622	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr2:122466739_122466740insT	ENST00000419902.1	+	0	637					NR_037857.1																						tttttttgttgttttttttttg	0.46																																						ENST00000419902.1																			0																																																			254128							g.chr2:122466739_122466740insT																													2.37:g.122466749_122466749dupT								NR_037857.1						0	637	+									RNA	INS	ENST00000419902.1	37																																																																																						0.460	AC018737.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000330755.2			3	5						3	5	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52555493	52555494	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr3:52555493_52555494delTG	ENST00000321725.6	+	56	6101_6102	c.6025_6026delTG	c.(6025-6027)tgtfs	p.C2009fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2009	Laminin EGF-like 2. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGAACTCTGTGCTCCTGGT	0.604																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6025-6027)tfs		stabilin 1																																				SO:0001589	frameshift_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52555493_52555494delTG	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6025_6026delTG	3.37:g.52555495_52555496delTG	ENSP00000312946:p.Cys2009fs						p.C2009fs	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	56	6101_6102	+			2009			Laminin EGF-like 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	37	c.6025_6026delTG	CCDS33768.1																																																																																				0.604	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		22	59						22	59	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		2	4						2	4	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149526874	149526874	+	RNA	DEL	C	C	-			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr7:149526874delC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			cctcctgtgtcccccccacag	0.657																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149526874delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149526874delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971199	21971200	+	Frame_Shift_Ins	INS	-	-	AT	rs104894095		TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr9:21971199_21971200insAT	ENST00000304494.5	-	2	428_429	c.158_159insAT	c.(157-159)atgfs	p.M53fs	CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.M53fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.D68fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.M2fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.M2fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.M2fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.M53fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.D109fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.M2fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.M53fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.D68fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.M2fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	53			M -> I (in CMM2). {ECO:0000269|PubMed:8595405, ECO:0000269|PubMed:8710906, ECO:0000269|PubMed:9328469}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M53I(2)|p.0(1)|p.V28_V51del(1)|p.D109H(1)|p.M53T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCTGCCCATCATCATGACCTG	0.678		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1369	Whole gene deletion(1316)|Unknown(45)|Substitution - Missense(4)|Deletion - In frame(4)	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M53I(2)|p.0(1)|p.V28_V51del(1)|p.D109H(1)|p.M53T(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(92)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(53)|pleura(51)|oesophagus(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014694|CM056552|CM950229	CDKN2A	M	rs104894095	c.(199-204)gaatggfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971199_21971200insAT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.157_158dupAT	9.37:g.21971200_21971201dupAT	ENSP00000307101:p.Met53fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.W68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.N2fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.W109fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.N53fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.N2fs	p.W68fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	493_494	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	44		A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.201_202insAT	CCDS6510.1																																																																																				0.678	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	18						10	18	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118771661	118771662	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr11:118771661_118771662insC	ENST00000334801.3	-	6	3754_3755	c.2790_2791insG	c.(2788-2793)gggcacfs	p.H931fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	931	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GACTTCAAGTGCCCCATGCCCG	0.619																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(2788-2793)ggacttfs		B-cell CLL/lymphoma 9-like																																				SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771661_118771662insC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2791dupG	11.37:g.118771665_118771665dupC	ENSP00000335320:p.His931fs					BCL9L_ENST00000526143.1_5'UTR	p.L931fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3754_3755	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	931			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	c.2790_2791insG	CCDS8403.1																																																																																				0.619	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		36	47						36	47	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23447645	23447646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr14:23447645_23447646insT	ENST00000262713.2	-	2	1390_1391	c.1015_1016insA	c.(1015-1017)atcfs	p.I339fs	AJUBA_ENST00000397388.3_5'Flank|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.I339fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	339	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GTTGCACTTGATACAGGTGCCT	0.54																																						ENST00000262713.2																			0											c.(1015-1017)caafs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447645_23447646insT	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1016dupA	14.37:g.23447646_23447646dupT	ENSP00000262713:p.Ile339fs					AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.Q339fs|RP11-298I3.5_ENST00000555074.1_Intron	p.Q339fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			2	1390_1391	-			339			LIM zinc-binding 1.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.1015_1016insA	CCDS9581.1																																																																																				0.540	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			20	79						20	79	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5087404	5087404	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:5087404delT	ENST00000399604.4	-	1	288	c.148delA	c.(148-150)agcfs	p.S50fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.S50fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	50					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)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTAAAGGGCTTACCCAGTGC	0.458																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(148-150)gcfs		zinc finger protein 594							125.0	116.0	119.0					17																	5087404		1887	4126	6013	SO:0001589	frameshift_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087404delT	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.148delA	17.37:g.5087404delT	ENSP00000382513:p.Ser50fs					ZNF594_ENST00000575779.1_Frame_Shift_Del_p.S50fs	p.S50fs			Q96JF6	ZN594_HUMAN			1	288	-			50					Q6RFS0	Frame_Shift_Del	DEL	ENST00000399604.4	37	c.148delA	CCDS42241.1																																																																																				0.458	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		26	52						26	52	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			4	4						4	4	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36218439	36218440	+	Frame_Shift_Ins	INS	-	-	G	rs186268702	byFrequency	TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:36218439_36218440insG	ENST00000222270.7	+	16	4218_4219	c.4218_4219insG	c.(4219-4221)gggfs	p.G1407fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.G1407fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1407					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGCCCTGAGCGGGGCCCTCCA	0.688																																						ENST00000420124.1																			0											c.(4216-4221)aggggcfs																																						SO:0001589	frameshift_variant	9757							g.chr19:36218439_36218440insG	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4222dupG	19.37:g.36218443_36218443dupG	ENSP00000222270:p.Gly1407fs					WBP7_ENST00000222270.7_Frame_Shift_Ins_p.RG1406fs|KMT2B_ENST00000607650.1_RNA	p.RG1406fs							16	4218_4219	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	c.4218_4219insG	CCDS46055.1																																																																																				0.688	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		25	69						25	69	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41770697	41770697	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:41770697delG	ENST00000392006.3	+	1	462	c.289delG	c.(289-291)ggafs	p.G97fs	HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.G54fs|HNRNPUL1_ENST00000263367.3_5'Flank|HNRNPUL1_ENST00000593587.1_5'Flank|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.G97fs|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000595018.1_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	97	Necessary for interaction with HRMT1L1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCCGGACGGACATTGTGA	0.776																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(289-291)gafs		heterogeneous nuclear ribonucleoprotein U-like 1							2.0	2.0	2.0					19																	41770697		855	2045	2900	SO:0001589	frameshift_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41770697delG	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.289delG	19.37:g.41770697delG	ENSP00000375863:p.Gly97fs					HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.G54fs|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.G97fs	p.G97fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			1	462	+			97			Necessary for interaction with HRMT1L1.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL	ENST00000392006.3	37	c.289delG	CCDS12576.1																																																																																				0.776	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		2	4						2	4	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49611236	49611236	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A6EN-01A-11D-A31L-08	TCGA-D6-A6EN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca2bc-cd7b-4ce1-a471-81445b85e3a4	20f2c75b-d578-4332-83cb-0e2307d84fff	g.chr19:49611236delA	ENST00000598441.1	+	10	1074	c.850delA	c.(850-852)aagfs	p.K284fs	SNRNP70_ENST00000221448.5_Frame_Shift_Del_p.K275fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	284	Arg/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GAGCAAGGACAAGGACCGGGA	0.751																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(823-825)agfs		small nuclear ribonucleoprotein 70kDa (U1)							7.0	11.0	10.0					19																	49611236		1978	3917	5895	SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611236delA		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.850delA	19.37:g.49611236delA	ENSP00000472998:p.Lys284fs					SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.K284fs	p.K275fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			10	1019	+			284			Arg/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Del	DEL	ENST00000598441.1	37	c.823delA	CCDS12756.1																																																																																				0.751	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		2	4						2	4	---	---	---	---
