#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
MYEOV	26579	broad.mit.edu	37	11	69063063	69063063	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr11:69063063T>C	ENST00000308946.3	+	3	596	c.146T>C	c.(145-147)gTc>gCc	p.V49A	MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Missense_Mutation_p.V49A	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	49										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CTGTAGTCTGTCCCCCTTGGG	0.582																																						ENST00000308946.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(145-147)gTc>gCc		myeloma overexpressed							82.0	87.0	86.0					11																	69063063		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063063T>C	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.146T>C	11.37:g.69063063T>C	ENSP00000308330:p.Val49Ala					MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Missense_Mutation_p.V49A	p.V49A	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	596	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		49					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.146T>C	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	T	4.682	0.126716	0.08931	.	.	ENSG00000172927	ENST00000441339;ENST00000308946	T;T	0.24151	1.87;1.87	1.5	-1.15	0.09709	.	.	.	.	.	T	0.08980	0.0222	N	0.08118	0	0.19575	N	0.999964	P	0.34934	0.476	B	0.23574	0.047	T	0.19192	-1.0313	9	0.87932	D	0	.	2.4206	0.04447	0.2776:0.0:0.284:0.4384	.	49	Q96EZ4	MYEOV_HUMAN	A	49	ENSP00000412482:V49A;ENSP00000308330:V49A	ENSP00000308330:V49A	V	+	2	0	MYEOV	68819639	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.642000	0.05427	-0.320000	0.08640	-0.501000	0.04562	GTC		0.582	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			4	151	0	0	0	1	0	4	151				
SEMA3E	9723	broad.mit.edu	37	7	83119432	83119432	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:83119432C>G	ENST00000307792.3	-	2	741	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	92	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCTATACCTCTTTATAGCCG	0.388																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(274-276)Gag>Cag		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							68.0	64.0	65.0					7																	83119432		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119432C>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.274G>C	7.37:g.83119432C>G	ENSP00000303212:p.Glu92Gln					SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q	p.E92Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			2	741	-		Medulloblastoma(109;0.109)	92			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.274G>C	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129438	0.77549	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.11063	2.81;2.81;2.81	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.165039	0.53938	D	0.000055	T	0.29355	0.0731	L	0.52573	1.65	0.58432	D	0.999999	D	0.69078	0.997	D	0.74023	0.982	T	0.00092	-1.2082	10	0.30854	T	0.27	.	20.3138	0.98647	0.0:1.0:0.0:0.0	.	92	O15041	SEM3E_HUMAN	Q	92;32;92;32	ENSP00000303212:E92Q;ENSP00000405052:E32Q;ENSP00000412867:E32Q	ENSP00000303212:E92Q	E	-	1	0	SEMA3E	82957368	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.721000	0.61951	2.814000	0.96858	0.585000	0.79938	GAG		0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		26	24	0	0	0	1	0	26	24				
MRPL15	29088	broad.mit.edu	37	8	55060054	55060054	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:55060054C>G	ENST00000260102.4	+	5	740	c.666C>G	c.(664-666)taC>taG	p.Y222*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	222					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACCGTGGGTACCTGGCGGATC	0.433																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(664-666)taC>taG		mitochondrial ribosomal protein L15							77.0	72.0	74.0					8																	55060054		2203	4300	6503	SO:0001587	stop_gained	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55060054C>G	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.666C>G	8.37:g.55060054C>G	ENSP00000260102:p.Tyr222*						p.Y222*	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		5	740	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	222					Q96Q54|Q9H0Y1	Nonsense_Mutation	SNP	ENST00000260102.4	37	c.666C>G	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186225	0.78789	.	.	ENSG00000137547	ENST00000260102	.	.	.	5.33	0.436	0.16549	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2808	9.3375	0.38060	0.0:0.5838:0.0:0.4162	.	.	.	.	X	222	.	ENSP00000260102:Y222X	Y	+	3	2	MRPL15	55222607	0.991000	0.36638	0.717000	0.30585	0.919000	0.55068	0.376000	0.20535	-0.221000	0.09973	-0.142000	0.14014	TAC		0.433	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		7	75	0	0	0	1	0	7	75				
NOL6	65083	broad.mit.edu	37	9	33463111	33463111	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr9:33463111G>A	ENST00000455041.2	-	24	3114	c.3055C>T	c.(3055-3057)Ctt>Ttt	p.L1019F	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1071					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TAGAAGAAAAGGGCCAGATCC	0.552																																						ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(3055-3057)Ctt>Ttt		nucleolar protein 6 (RNA-associated)							55.0	52.0	53.0					9																	33463111		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463111G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.3055C>T	9.37:g.33463111G>A	ENSP00000395915:p.Leu1019Phe					NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron	p.L1019F			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	24	3114	-			1071					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000455041.2	37	c.3055C>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.602245	0.87055	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000541373;ENST00000455041	T;T;T	0.49139	0.79;0.79;0.79	5.81	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.996	T	0.63475	-0.6629	10	0.32370	T	0.25	.	14.277	0.66187	0.0743:0.0:0.9257:0.0	.	1019;1068;1071	B4DF80;Q9H6R4-4;Q9H6R4	.;.;NOL6_HUMAN	F	125;1071;627;1019	ENSP00000368783:L125F;ENSP00000297990:L1071F;ENSP00000395915:L1019F	ENSP00000297990:L1071F	L	-	1	0	NOL6	33453111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.579000	0.53900	2.745000	0.94114	0.655000	0.94253	CTT		0.552	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		11	19	0	0	0	1	0	11	19				
NOL4L	140688	broad.mit.edu	37	20	31035489	31035489	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035489C>T	ENST00000359676.5	-	8	1363	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		407						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGAGCTGCCGCACGGCGCTGA	0.672																																						ENST00000359676.5																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						c.(1219-1221)gtG>gtA		chromosome 20 open reading frame 112							30.0	31.0	30.0					20																	31035489		2203	4300	6503	SO:0001819	synonymous_variant	140688							g.chr20:31035489C>T																												ENST00000359676.5:c.1221G>A	20.37:g.31035489C>T							p.V407V	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN			8	1363	-			407					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	ENST00000359676.5	37	c.1221G>A	CCDS13202.1																																																																																				0.672	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			40	45	0	0	0	1	0	40	45				
YY2	404281	broad.mit.edu	37	X	21875401	21875401	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chrX:21875401G>T	ENST00000429584.2	+	1	1297	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	267	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GATGTTCCGGGATTACGCCGC	0.498																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(799-801)Gat>Tat		YY2 transcription factor							111.0	113.0	112.0					X																	21875401		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875401G>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.799G>T	X.37:g.21875401G>T	ENSP00000389381:p.Asp267Tyr					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	p.D267Y	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1297	+			267			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.799G>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987740	0.35036	.	.	ENSG00000230797	ENST00000429584	T	0.12039	2.72	4.52	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.13500	0.0327	N	0.12961	0.28	0.58432	D	0.999998	D	0.69078	0.997	P	0.56216	0.794	T	0.05131	-1.0904	10	0.56958	D	0.05	.	8.1397	0.31076	0.2041:0.0:0.7959:0.0	.	267	O15391	TYY2_HUMAN	Y	267	ENSP00000389381:D267Y	ENSP00000389381:D267Y	D	+	1	0	YY2	21785322	1.000000	0.71417	0.012000	0.15200	0.009000	0.06853	4.761000	0.62243	0.482000	0.27582	0.600000	0.82982	GAT		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	208	1	0	1.23904e-05	1	1.26926e-05	5	208				
ERN2	10595	broad.mit.edu	37	16	23716446	23716446	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:23716446G>A	ENST00000457008.2	-	8	650	c.612C>T	c.(610-612)tgC>tgT	p.C204C	ERN2_ENST00000256797.4_Silent_p.C252C					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGCCCATCCCGCAGGACGCCA	0.647																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(754-756)tgC>tgT		endoplasmic reticulum to nucleus signaling 2							42.0	41.0	41.0					16																	23716446		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23716446G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.612C>T	16.37:g.23716446G>A						ERN2_ENST00000457008.2_Silent_p.C204C	p.C252C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	924	-			204						Silent	SNP	ENST00000457008.2	37	c.756C>T																																																																																					0.647	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			10	36	0	0	0	1	0	10	36				
LAMB2	3913	broad.mit.edu	37	3	49161202	49161202	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:49161202G>A	ENST00000418109.1	-	25	3920	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.A1252A|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1252	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTGGAGGCGGCTGAGGTGT	0.622																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(3754-3756)gcC>gcT		laminin, beta 2 (laminin S)							34.0	37.0	36.0					3																	49161202		2203	4296	6499	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161202G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3756C>T	3.37:g.49161202G>A						LAMB2_ENST00000305544.4_Silent_p.A1252A	p.A1252A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	3920	-			1252			Domain II.		Q16321	Silent	SNP	ENST00000418109.1	37	c.3756C>T	CCDS2789.1																																																																																				0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		30	85	0	0	0	1	0	30	85				
RAB27A	5873	broad.mit.edu	37	15	55497845	55497845	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:55497845T>A	ENST00000396307.2	-	6	777	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L|RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	176					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCAGAAGCATCTCAATTGCT	0.473																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(526-528)Atg>Ttg		RAB27A, member RAS oncogene family							311.0	244.0	267.0					15																	55497845		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497845T>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.526A>T	15.37:g.55497845T>A	ENSP00000379601:p.Met176Leu					RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L	p.M176L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	777	-			176					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.526A>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474311	0.26423	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.72835	-0.69;-0.69	5.49	4.37	0.52481	Small GTP-binding protein domain (1);	0.558467	0.21586	N	0.072179	T	0.44117	0.1278	N	0.01817	-0.705	0.23809	N	0.996783	B	0.02656	0.0	B	0.01281	0.0	T	0.40232	-0.9574	10	0.54805	T	0.06	-12.0566	10.3957	0.44198	0.0:0.0763:0.0:0.9237	.	176	P51159	RB27A_HUMAN	L	176;168;176	ENSP00000379601:M176L;ENSP00000337761:M176L	ENSP00000337761:M176L	M	-	1	0	RAB27A	53285137	0.792000	0.28813	0.983000	0.44433	0.995000	0.86356	1.515000	0.35845	0.934000	0.37316	0.533000	0.62120	ATG		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		59	46	0	0	0	1	0	59	46				
L3MBTL4	91133	broad.mit.edu	37	18	6241395	6241395	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:6241395G>T	ENST00000284898.6	-	8	714	c.514C>A	c.(514-516)Caa>Aaa	p.Q172K	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000535782.1_5'UTR	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	172					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)				GGAGCATTTTGCAATTTGCAG	0.308																																					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.(514-516)Caa>Aaa		l(3)mbt-like 4 (Drosophila)							88.0	101.0	96.0					18																	6241395		2202	4296	6498	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6241395G>T	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.514C>A	18.37:g.6241395G>T	ENSP00000284898:p.Gln172Lys					L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K	p.Q172K			Q8NA19	LMBL4_HUMAN			8	714	-		Colorectal(10;0.0249)	172					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.514C>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927151	0.73327	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.3	4.41	0.53225	.	0.196285	0.33691	N	0.004655	T	0.51449	0.1675	M	0.70595	2.14	0.80722	D	1	P;P	0.51791	0.876;0.948	B;P	0.53722	0.178;0.733	T	0.50233	-0.8852	10	0.13853	T	0.58	.	12.8677	0.57948	0.0:0.0:0.8357:0.1643	.	172;172	Q8NA19;F8W9S8	LMBL4_HUMAN;.	K	172	ENSP00000382976:Q172K;ENSP00000318543:Q172K;ENSP00000284898:Q172K;ENSP00000382975:Q172K	ENSP00000284898:Q172K	Q	-	1	0	L3MBTL4	6231395	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	4.183000	0.58317	1.195000	0.43115	0.460000	0.39030	CAA		0.308	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		76	10	1	0	2.65773e-34	1	2.86217e-34	76	10				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	29	0	0	0	1	0	6	29				
DHX16	8449	broad.mit.edu	37	6	30638670	30638670	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:30638670C>T	ENST00000376442.3	-	3	701	c.506G>A	c.(505-507)cGt>cAt	p.R169H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	169					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AAGGCGTTCACGCTCTGTCCG	0.557																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(505-507)cGt>cAt		DEAH (Asp-Glu-Ala-His) box polypeptide 16							167.0	118.0	135.0					6																	30638670		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638670C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.506G>A	6.37:g.30638670C>T	ENSP00000365625:p.Arg169His						p.R169H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			3	701	-			169					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.506G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502619	0.64298	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.50001	0.76;0.76	4.62	4.62	0.57501	.	0.064999	0.64402	D	0.000018	T	0.30008	0.0751	L	0.52126	1.63	0.80722	D	1	D;D	0.61080	0.968;0.989	B;B	0.42087	0.375;0.375	T	0.21280	-1.0250	10	0.52906	T	0.07	.	11.5895	0.50938	0.1786:0.8214:0.0:0.0	.	109;169	B4DZ28;O60231	.;DHX16_HUMAN	H	169;109	ENSP00000365625:R169H;ENSP00000399101:R109H	ENSP00000365625:R169H	R	-	2	0	DHX16	30746649	0.987000	0.35691	0.966000	0.40874	0.950000	0.60333	2.765000	0.47621	2.399000	0.81585	0.460000	0.39030	CGT		0.557	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		4	71	0	0	0	1	0	4	71				
EEF1A1	1915	broad.mit.edu	37	6	74229701	74229701	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:74229701C>T	ENST00000316292.9	-	1	1040	c.49G>A	c.(49-51)Gat>Aat	p.D17N	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.D17N|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D17N	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	17	G1. {ECO:0000250}.|tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTGCCCGAATCTACGTGTCCA	0.423																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(49-51)Gat>Aat		eukaryotic translation elongation factor 1 alpha 1							64.0	65.0	65.0					6																	74229701		2202	4280	6482	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229701C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.49G>A	6.37:g.74229701C>T	ENSP00000339063:p.Asp17Asn					EEF1A1_ENST00000309268.6_Missense_Mutation_p.D17N|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D17N	p.D17N	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1040	-			17					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.49G>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254697	0.80135	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (4);	0.000000	0.85682	U	0.000000	D	0.91948	0.7450	H	0.95328	3.655	0.80722	D	1	B;D;D;D;D	0.89917	0.284;1.0;1.0;1.0;1.0	B;D;D;D;D	0.97110	0.168;1.0;1.0;1.0;1.0	D	0.94335	0.7565	10	0.87932	D	0	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	17;17;17;17;17	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	N	17	ENSP00000339063:D17N;ENSP00000339053:D17N;ENSP00000330054:D17N;ENSP00000348651:D17N;ENSP00000392366:D17N	ENSP00000339053:D17N	D	-	1	0	EEF1A1	74286422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.502000	0.81614	2.310000	0.77875	0.555000	0.69702	GAT		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		11	37	0	0	0	1	0	11	37				
ZDHHC14	79683	broad.mit.edu	37	6	158068387	158068387	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:158068387C>A	ENST00000359775.5	+	7	1841	c.952C>A	c.(952-954)Ccc>Acc	p.P318T	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	318					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTGTGTGGGCCCATCTCACC	0.498																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(952-954)Ccc>Acc		zinc finger, DHHC-type containing 14							130.0	127.0	128.0					6																	158068387		2203	4299	6502	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158068387C>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.952C>A	6.37:g.158068387C>A	ENSP00000352821:p.Pro318Thr					ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T	p.P318T			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	7	1841	+		Breast(66;0.00586)|Ovarian(120;0.123)	318					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.952C>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450181	0.63290	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.52057	0.68;0.7	5.59	5.59	0.84812	.	0.000000	0.64402	U	0.000008	T	0.66346	0.2780	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.70019	-0.4987	10	0.87932	D	0	-19.6026	18.3681	0.90398	0.0:1.0:0.0:0.0	.	318;318	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	T	318;318;322	ENSP00000352821:P318T;ENSP00000410713:P318T	ENSP00000352821:P318T	P	+	1	0	ZDHHC14	157988375	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	7.072000	0.76777	2.622000	0.88805	0.561000	0.74099	CCC		0.498	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		56	39	1	0	1.73933e-33	1	1.84941e-33	56	39				
PRSS3P2	154754	broad.mit.edu	37	7	142481246	142481246	+	RNA	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:142481246A>G	ENST00000603901.1	+	0	320					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CTGAACAATGACATCATGCTG	0.527																																						ENST00000603901.1																			0																				193.0	137.0	155.0					7																	142481246		684	1494	2178			0							g.chr7:142481246A>G			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481246A>G								NR_001296.3						0	320	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.527	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	79	0	0	0	1	0	6	79				
ITPR3	3710	broad.mit.edu	37	6	33638268	33638268	+	Missense_Mutation	SNP	G	G	A	rs577602247		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:33638268G>A	ENST00000374316.5	+	20	3416	c.2356G>A	c.(2356-2358)Gtg>Atg	p.V786M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	786					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCACGTGCACGTGGACCGTGA	0.622																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2356-2358)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							101.0	88.0	92.0					6																	33638268		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33638268G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2356G>A	6.37:g.33638268G>A	ENSP00000363435:p.Val786Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M	p.V786M			Q14573	ITPR3_HUMAN			20	3416	+			786					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2356G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052263	0.93793	.	.	ENSG00000096433	ENST00000374316	D	0.95412	-3.7	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98753	1.0721	10	0.87932	D	0	-27.7856	17.8678	0.88801	0.0:0.0:1.0:0.0	.	786	Q14573	ITPR3_HUMAN	M	786	ENSP00000363435:V786M	ENSP00000363435:V786M	V	+	1	0	ITPR3	33746246	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.748000	0.98867	2.209000	0.71365	0.563000	0.77884	GTG		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		73	51	0	0	0	1	0	73	51				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999229	112999229	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:112999229T>C	ENST00000271277.6	+	6	1340	c.1115T>C	c.(1114-1116)gTg>gCg	p.V372A		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	372					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAACCAGGTGCCTCCACGG	0.522																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1114-1116)gTg>gCg		CTTNBP2 N-terminal like							95.0	102.0	100.0					1																	112999229		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999229T>C	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1115T>C	1.37:g.112999229T>C	ENSP00000271277:p.Val372Ala						p.V372A	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1340	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	372					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1115T>C	CCDS845.1	.	.	.	.	.	.	.	.	.	.	T	6.205	0.406012	0.11754	.	.	ENSG00000143079	ENST00000271277	T	0.22336	1.96	5.69	-2.37	0.06643	.	0.724818	0.12856	N	0.433497	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	10	0.08599	T	0.76	-1.3817	5.8649	0.18768	0.0:0.2441:0.4416:0.3142	.	372	Q9P2B4	CT2NL_HUMAN	A	372	ENSP00000271277:V372A	ENSP00000271277:V372A	V	+	2	0	CTTNBP2NL	112800752	0.000000	0.05858	0.806000	0.32338	0.761000	0.43186	-0.776000	0.04674	-0.429000	0.07329	-0.460000	0.05396	GTG		0.522	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		4	128	0	0	0	1	0	4	128				
KIRREL	55243	broad.mit.edu	37	1	158061183	158061183	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:158061183G>A	ENST00000359209.6	+	11	1375	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	KIRREL_ENST00000416935.2_Silent_p.G336G|KIRREL_ENST00000360089.4_Silent_p.G272G|KIRREL_ENST00000368173.3_Silent_p.G452G|KIRREL_ENST00000368172.1_Silent_p.G250G|KIRREL_ENST00000392272.2_Silent_p.G333G			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	436	Ig-like C2-type 5.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGGAGGTGGGGACCCTGGAAC	0.572																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(748-750)ggG>ggA		kin of IRRE like (Drosophila)							100.0	97.0	98.0					1																	158061183		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158061183G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1308G>A	1.37:g.158061183G>A						KIRREL_ENST00000392272.2_Silent_p.G333G|KIRREL_ENST00000359209.6_Silent_p.G436G|KIRREL_ENST00000416935.2_Silent_p.G336G|KIRREL_ENST00000360089.4_Silent_p.G272G|KIRREL_ENST00000368173.3_Silent_p.G452G	p.G250G			Q96J84	KIRR1_HUMAN			7	762	+	all_hematologic(112;0.0378)		436			Ig-like C2-type 3.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.750G>A	CCDS1172.2																																																																																				0.572	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		15	136	0	0	0	1	0	15	136				
EFCAB12	90288	broad.mit.edu	37	3	129123129	129123129	+	Missense_Mutation	SNP	C	C	T	rs199684655	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:129123129C>T	ENST00000505956.1	-	7	1529	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R456Q	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	456							calcium ion binding (GO:0005509)										GCCCTGGGACCGGAGCAGAGC	0.562													C|||	7	0.00139776	0.0053	0.0	5008	,	,		16354	0.0		0.0	False		,,,				2504	0.0					ENST00000505956.1																			0											c.(1366-1368)cGg>cAg		EF-hand calcium binding domain 12		C	GLN/ARG	6,3858		0,6,1926	80.0	89.0	86.0		1367	-5.4	0.0	3		86	2,8244		0,2,4121	yes	missense	C3orf25	NM_207307.1	43	0,8,6047	TT,TC,CC		0.0243,0.1553,0.0661	benign	456/573	129123129	8,12102	1932	4123	6055	SO:0001583	missense	90288							g.chr3:129123129C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1367G>A	3.37:g.129123129C>T	ENSP00000420854:p.Arg456Gln					EFCAB12_ENST00000326085.3_Missense_Mutation_p.R456Q	p.R456Q	NM_207307.1	NP_997190.1					7	1529	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.1367G>A	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	6.197	0.404427	0.11754	0.001553	2.43E-4	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.02737	4.18;4.18	3.34	-5.45	0.02616	.	2.583810	0.02424	N	0.082905	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.10450	0.005	T	0.43163	-0.9408	10	0.27082	T	0.32	-2.5703	6.3404	0.21319	0.1501:0.2231:0.0:0.6267	.	456	Q6NXP0	CC025_HUMAN	Q	456	ENSP00000420854:R456Q;ENSP00000324241:R456Q	ENSP00000324241:R456Q	R	-	2	0	C3orf25	130605819	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.254000	0.01183	-1.519000	0.01775	-1.028000	0.02416	CGG		0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		31	123	0	0	0	1	0	31	123				
DDX19A	55308	broad.mit.edu	37	16	70400656	70400656	+	Silent	SNP	T	T	C	rs142443034		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:70400656T>C	ENST00000302243.7	+	9	1075	c.912T>C	c.(910-912)gaT>gaC	p.D304D	DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	304	C-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGACCCTGGATACCATCAAGC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22007	0.0		0.0	False		,,,				2504	0.001					ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(910-912)gaT>gaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A		C		2,4394	825.1+/-416.5	0,2,2196	201.0	170.0	181.0		912	0.9	1.0	16	dbSNP_134	181	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	DDX19A	NM_018332.3		0,3,6495	CC,CT,TT		0.0116,0.0455,0.0231		304/479	70400656	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	55308							g.chr16:70400656T>C	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.912T>C	16.37:g.70400656T>C						DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D	p.D304D	NM_018332.3	NP_060802.1					9	1075	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.912T>C	CCDS10889.1																																																																																				0.502	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		29	115	0	0	0	1	0	29	115				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		6	54	1	0	0.0215528	1	0.0215528	6	54				
ABCA7	10347	broad.mit.edu	37	19	1056090	1056090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:1056090C>T	ENST00000263094.6	+	32	4495	c.4264C>T	c.(4264-4266)Cga>Tga	p.R1422*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1422					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGGGGCCGAGACCCAGG	0.726																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4264-4266)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 7							26.0	32.0	30.0					19																	1056090		2203	4298	6501	SO:0001587	stop_gained	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056090C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4264C>T	19.37:g.1056090C>T	ENSP00000263094:p.Arg1422*					ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284*	p.R1422*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	32	4495	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1422					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	37	c.4264C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	37	6.177492	0.97352	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	2.75	0.541	0.17168	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	1.6336	0.02737	0.2142:0.4486:0.2094:0.1278	.	.	.	.	X	1422	.	ENSP00000263094:R1422X	R	+	1	2	ABCA7	1007090	0.000000	0.05858	0.294000	0.24946	0.042000	0.13812	-0.164000	0.09983	0.231000	0.21079	-1.157000	0.01802	CGA		0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		36	46	0	0	0	1	0	36	46				
KDM2B	84678	broad.mit.edu	37	12	121867855	121867855	+	3'UTR	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:121867855G>A	ENST00000377071.4	-	0	4319				KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|RNF34_ENST00000392464.2_Missense_Mutation_p.R361H	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTAAAGGCCGCCTTAGAAAT	0.483																																						ENST00000392464.2																			0				breast(1)|large_intestine(1)	2						c.(1081-1083)cGc>cAc		ring finger protein 34, E3 ubiquitin protein ligase							65.0	59.0	60.0					12																	121867855		692	1591	2283	SO:0001624	3_prime_UTR_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121867855G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.*236C>T	12.37:g.121867855G>A						KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000536437.1_3'UTR	p.R361H			Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	7	1151	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		15					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1082G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439555	0.25900	.	.	ENSG00000170633	ENST00000392464	T	0.32272	1.46	5.07	1.12	0.20585	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04870	-1.0921	5	.	.	.	.	5.3418	0.15988	0.2392:0.0:0.6176:0.1432	.	.	.	.	H	361	ENSP00000376257:R361H	.	R	+	2	0	RNF34	120352238	0.005000	0.15991	0.983000	0.44433	0.994000	0.84299	0.443000	0.21644	0.269000	0.21961	0.655000	0.94253	CGC		0.483	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	61	0	0	0	1	0	8	61				
HIST1H1E	3008	broad.mit.edu	37	6	26156726	26156726	+	Silent	SNP	T	T	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:26156726T>A	ENST00000304218.3	+	1	168	c.108T>A	c.(106-108)tcT>tcA	p.S36S	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	36	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCAAAGCGTCTGGGCCCCCGG	0.662																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(106-108)tcT>tcA		histone cluster 1, H1e							23.0	30.0	28.0					6																	26156726		2197	4295	6492	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156726T>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.108T>A	6.37:g.26156726T>A							p.S36S	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	168	+			36			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.108T>A	CCDS4586.1																																																																																				0.662	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		23	54	0	0	0	1	0	23	54				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	102	0	0	0	1	0	4	102				
ABCC11	85320	broad.mit.edu	37	16	48210912	48210912	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:48210912G>T	ENST00000394747.1	-	24	3810	c.3461C>A	c.(3460-3462)aCa>aAa	p.T1154K	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1154	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACGGTGGGTGTGTTGTCTCT	0.557																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3460-3462)aCa>aAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	157.0	171.0					16																	48210912		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48210912G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3461C>A	16.37:g.48210912G>T	ENSP00000378230:p.Thr1154Lys					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K	p.T1154K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			24	3810	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1154			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3461C>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813366	0.32053	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.34	0.897	0.19258	ABC transporter-like (1);	0.201133	0.40302	N	0.001123	T	0.80460	0.4627	N	0.13198	0.31	0.23506	N	0.99754	D;B	0.53462	0.96;0.271	P;B	0.46110	0.504;0.096	T	0.73122	-0.4082	10	0.42905	T	0.14	-0.641	4.6274	0.12484	0.2557:0.3045:0.4398:0.0	.	1154;1154	Q96J66-2;Q96J66	.;ABCCB_HUMAN	K	1154	ENSP00000311326:T1154K;ENSP00000349017:T1154K;ENSP00000378231:T1154K;ENSP00000378230:T1154K	ENSP00000311326:T1154K	T	-	2	0	ABCC11	46768413	0.012000	0.17670	0.179000	0.23059	0.543000	0.35085	0.686000	0.25392	0.247000	0.21414	0.561000	0.74099	ACA		0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		17	17	1	0	5.03518e-11	1	5.28694e-11	17	17				
OR51B5	282763	broad.mit.edu	37	11	5364389	5364389	+	Silent	SNP	A	A	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr11:5364389A>T	ENST00000300773.2	-	1	420	c.366T>A	c.(364-366)atT>atA	p.I122I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGATGGCAATAAAACGGT	0.463																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(364-366)atT>atA		olfactory receptor, family 51, subfamily B, member 5							52.0	53.0	52.0					11																	5364389		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364389A>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.366T>A	11.37:g.5364389A>T						AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.I122I	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	420	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	122					B2RN59	Silent	SNP	ENST00000300773.2	37	c.366T>A	CCDS31378.1																																																																																				0.463	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		13	57	0	0	0	1	0	13	57				
CCDC185	164127	broad.mit.edu	37	1	223568629	223568629	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:223568629C>T	ENST00000366875.3	+	1	1915	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		604										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAACAGCTCCCTTGATCAGA	0.582																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1810-1812)tcC>tcT		chromosome 1 open reading frame 65							50.0	50.0	50.0					1																	223568629		2203	4300	6503	SO:0001819	synonymous_variant	164127							g.chr1:223568629C>T																												ENST00000366875.3:c.1812C>T	1.37:g.223568629C>T							p.S604S	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1915	+			604					Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.1812C>T	CCDS1537.1																																																																																				0.582	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			25	37	0	0	0	1	0	25	37				
SETD2	29072	broad.mit.edu	37	3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47147518T>C	ENST00000409792.3	-	6	4850	c.4808A>G	c.(4807-4809)cAt>cGt	p.H1603R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	Inhibitor binding.|S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4807-4809)cAt>cGt		SET domain containing 2							164.0	155.0	158.0					3																	47147518		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47147518T>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4808A>G	3.37:g.47147518T>C	ENSP00000386759:p.His1603Arg						p.H1603R	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	6	4850	-		Acute lymphoblastic leukemia(5;0.0169)	1603			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4808A>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472586	0.84640	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80123	-1.34	5.28	5.28	0.74379	SET domain (3);	0.000000	0.56097	D	0.000031	D	0.90748	0.7096	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92440	0.5961	10	0.87932	D	0	.	15.4917	0.75611	0.0:0.0:0.0:1.0	.	1603;1603	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1603	ENSP00000386759:H1603R	ENSP00000386759:H1603R	H	-	2	0	SETD2	47122522	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.596000	0.82721	2.134000	0.65973	0.528000	0.53228	CAT		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		22	100	0	0	0	1	0	22	100				
HAUS1	115106	broad.mit.edu	37	18	43685266	43685266	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:43685266T>G	ENST00000282058.6	+	2	217	c.137T>G	c.(136-138)gTc>gGc	p.V46G	HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G|ATP5A1_ENST00000282050.2_5'Flank	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CGCAACAGGGTCCGGGACAGG	0.438																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(136-138)gTc>gGc		HAUS augmin-like complex, subunit 1							70.0	65.0	66.0					18																	43685266		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685266T>G	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.137T>G	18.37:g.43685266T>G	ENSP00000282058:p.Val46Gly					HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G	p.V46G	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			2	217	+			46					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.137T>G	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323063	0.41096	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.4	0.589	0.17452	.	0.499317	0.21905	N	0.067390	T	0.46619	0.1402	M	0.62723	1.935	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.19745	-1.0296	9	0.23302	T	0.38	-0.3112	5.853	0.18704	0.1408:0.5302:0.0:0.329	.	46	Q96CS2	HAUS1_HUMAN	G	46	.	ENSP00000282058:V46G	V	+	2	0	HAUS1	41939264	0.002000	0.14202	0.997000	0.53966	0.818000	0.46254	0.197000	0.17197	0.055000	0.16094	-0.256000	0.11100	GTC		0.438	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		25	5	0	0	0	1	0	25	5				
DYRK1A	1859	broad.mit.edu	37	21	38884668	38884668	+	Missense_Mutation	SNP	G	G	A	rs374771208		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr21:38884668G>A	ENST00000398960.2	+	11	2201	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.R700H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	709					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAATCCCCGCCAAGAGACT	0.488																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2098-2100)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		G	,,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	91.0	95.0		,,2099,2126	4.8	1.0	21		95	0,8600		0,0,4300	no	utr-3,utr-3,missense,missense	DYRK1A	NM_101395.2,NM_130438.2,NM_130436.2,NM_001396.3	,,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign,benign	,,700/755,709/764	38884668	1,13005	2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884668G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2126G>A	21.37:g.38884668G>A	ENSP00000381932:p.Arg709His					DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R709H	p.R700H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3569	+			709					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.2099G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638440	0.67130	2.27E-4	0.0	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58506	0.33;0.37;0.92	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	N	0.24115	0.695	0.80722	D	1	B;B	0.17465	0.013;0.022	B;B	0.09377	0.002;0.004	T	0.36890	-0.9729	10	0.56958	D	0.05	.	14.9122	0.70767	0.0689:0.0:0.9311:0.0	.	709;700	Q13627;Q13627-2	DYR1A_HUMAN;.	H	700;709;481	ENSP00000340373:R700H;ENSP00000381932:R709H;ENSP00000407854:R481H	ENSP00000340373:R700H	R	+	2	0	DYRK1A	37806538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.357000	0.97099	1.433000	0.47394	-0.150000	0.13652	CGC		0.488	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		28	53	0	0	0	1	0	28	53				
ZIC4	84107	broad.mit.edu	37	3	147108875	147108875	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:147108875T>C	ENST00000383075.3	-	4	1359	c.847A>G	c.(847-849)Aag>Gag	p.K283E	ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	283						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCATGTGCTTACGCAGCGAG	0.642																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(847-849)Aag>Gag		Zic family member 4							37.0	45.0	42.0					3																	147108875		2200	4300	6500	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108875T>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.847A>G	3.37:g.147108875T>C	ENSP00000372553:p.Lys283Glu					ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E	p.K283E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1359	-			283					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.847A>G	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	T	33	5.257260	0.95368	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.54479	3.19;0.57;0.57;3.19;3.19;1.28	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000189	T	0.66386	0.2784	L	0.47190	1.495	0.47737	D	0.999502	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.74044	-0.3791	9	0.87932	D	0	.	14.795	0.69870	0.0:0.0:0.0:1.0	.	333;283	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	283;321;333;283;283;77	ENSP00000372553:K283E;ENSP00000397695:K321E;ENSP00000435509:K333E;ENSP00000417855:K283E;ENSP00000420775:K283E;ENSP00000418277:K77E	ENSP00000372553:K283E	K	-	1	0	ZIC4	148591565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.954000	0.87848	1.894000	0.54839	0.379000	0.24179	AAG		0.642	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			23	61	0	0	0	1	0	23	61				
CROCC	9696	broad.mit.edu	37	1	17250900	17250900	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:17250900G>A	ENST00000375541.5	+	3	346	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGTCCCGCGTGGAGGACCT	0.657																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(277-279)Gtg>Atg		ciliary rootlet coiled-coil, rootletin																																				SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17250900G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.277G>A	1.37:g.17250900G>A	ENSP00000364691:p.Val93Met					CROCC_ENST00000467938.1_Intron	p.V93M	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	3	346	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	93						Missense_Mutation	SNP	ENST00000375541.5	37	c.277G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377434	0.42105	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13089	2.62	4.88	1.8	0.24995	.	.	.	.	.	T	0.12689	0.0308	L	0.47716	1.5	0.28335	N	0.921594	P	0.52170	0.951	B	0.42916	0.402	T	0.13176	-1.0519	9	0.40728	T	0.16	.	7.4177	0.27055	0.0897:0.3265:0.5838:0.0	.	93	Q5TZA2	CROCC_HUMAN	M	93;64	ENSP00000364691:V93M	ENSP00000364691:V93M	V	+	1	0	CROCC	17123487	0.747000	0.28283	0.772000	0.31596	0.986000	0.74619	1.017000	0.29989	0.529000	0.28599	0.591000	0.81541	GTG		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		19	24	0	0	0	1	0	19	24				
TRIML2	205860	broad.mit.edu	37	4	189026001	189026001	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:189026001G>A	ENST00000512729.1	-	2	499	c.125C>T	c.(124-126)gCg>gTg	p.A42V	TRIML2_ENST00000326754.3_Missense_Mutation_p.A42V|TRIML2_ENST00000536972.1_Missense_Mutation_p.A92V|TRIML2_ENST00000502707.1_5'Flank	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	42					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGAATCATCGCCATTCTTTC	0.363																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(124-126)gCg>gTg		tripartite motif family-like 2							210.0	195.0	200.0					4																	189026001		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189026001G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.125C>T	4.37:g.189026001G>A	ENSP00000422581:p.Ala42Val					TRIML2_ENST00000326754.3_Missense_Mutation_p.A42V|TRIML2_ENST00000536972.1_Missense_Mutation_p.A92V	p.A42V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	2	499	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	42					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.125C>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	1.833	-0.469270	0.04445	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.56941	0.53;0.43;3.79	4.49	-1.48	0.08745	.	1.289940	0.05528	N	0.563421	T	0.23410	0.0566	N	0.02721	-0.515	0.09310	N	1	B;B;B	0.18863	0.031;0.024;0.0	B;B;B	0.08055	0.002;0.003;0.0	T	0.16335	-1.0406	10	0.10902	T	0.67	.	6.4478	0.21885	0.4115:0.4957:0.0928:0.0	.	92;42;42	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	V	42;42;92	ENSP00000422581:A42V;ENSP00000317498:A42V;ENSP00000441236:A92V	ENSP00000317498:A42V	A	-	2	0	TRIML2	189262995	0.002000	0.14202	0.027000	0.17364	0.647000	0.38526	0.056000	0.14256	-0.128000	0.11641	-0.474000	0.04947	GCG		0.363	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		16	65	0	0	0	1	0	16	65				
ZNF812	729648	broad.mit.edu	37	19	9801052	9801052	+	Missense_Mutation	SNP	C	C	T	rs115285977	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:9801052C>T	ENST00000457674.2	-	5	1645	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						ATGTTTACTACGATAGGAAGA	0.388													.|||	165	0.0329473	0.1172	0.013	5008	,	,		22941	0.0		0.001	False		,,,				2504	0.0					ENST00000457674.2																			0				ovary(1)	1						c.(1126-1128)cGt>cAt		zinc finger protein 812																																				SO:0001583	missense	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9801052C>T		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.1127G>A	19.37:g.9801052C>T	ENSP00000395629:p.Arg376His					ZNF812_ENST00000536819.1_5'UTR	p.R376H	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	1645	-			376						Missense_Mutation	SNP	ENST00000457674.2	37	c.1127G>A	CCDS54215.1	54	0.024725274725274724	53	0.10772357723577236	1	0.0027624309392265192	0	0.0	0	0.0	t	7.366	0.625772	0.14257	.	.	ENSG00000224689	ENST00000457674	T	0.07444	3.19	1.42	-1.11	0.09840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	L	0.58510	1.815	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.32640	-0.9899	9	0.72032	D	0.01	.	3.9008	0.09161	0.4077:0.389:0.0:0.2032	.	376	P0C7V5	ZN812_HUMAN	H	376	ENSP00000395629:R376H	ENSP00000395629:R376H	R	-	2	0	ZNF812	9662052	0.018000	0.18449	0.000000	0.03702	0.025000	0.11179	-0.265000	0.08644	-1.922000	0.01067	-3.256000	0.00050	CGT		0.388	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			33	32	0	0	0	1	0	33	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	31	0	0	0	1	0	26	31				
PARP12	64761	broad.mit.edu	37	7	139734050	139734050	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:139734050G>A	ENST00000263549.3	-	8	2279	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	469						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTGCATGGTCGTCACATCCTG	0.493																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1405-1407)aCg>aTg		poly (ADP-ribose) polymerase family, member 12							80.0	71.0	74.0					7																	139734050		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139734050G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1406C>T	7.37:g.139734050G>A	ENSP00000263549:p.Thr469Met					PARP12_ENST00000470515.1_5'UTR	p.T469M	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			8	2279	-	Melanoma(164;0.0142)		469					Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1406C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602724	0.28534	.	.	ENSG00000059378	ENST00000263549;ENST00000489809	T;T	0.46063	3.19;0.88	5.6	1.69	0.24217	.	0.517174	0.21860	N	0.068059	T	0.24392	0.0591	N	0.22421	0.69	0.22378	N	0.999151	P	0.43578	0.811	B	0.38056	0.264	T	0.11494	-1.0585	10	0.66056	D	0.02	.	6.9347	0.24461	0.1378:0.0:0.3097:0.5525	.	469	Q9H0J9	PAR12_HUMAN	M	469;107	ENSP00000263549:T469M;ENSP00000417606:T107M	ENSP00000263549:T469M	T	-	2	0	PARP12	139380519	0.390000	0.25213	0.717000	0.30585	0.799000	0.45148	0.645000	0.24782	0.406000	0.25560	-0.410000	0.06199	ACG		0.493	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		13	21	0	0	0	1	0	13	21				
TAAR2	9287	broad.mit.edu	37	6	132939136	132939136	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:132939136T>C	ENST00000367931.1	-	2	208	c.209A>G	c.(208-210)tAc>tGc	p.Y70C	TAAR2_ENST00000537809.1_Missense_Mutation_p.Y25C|TAAR2_ENST00000275191.2_Missense_Mutation_p.Y25C			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	70					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTGCTTGAAGTAGGAAATGGA	0.428																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(73-75)tAc>tGc		trace amine associated receptor 2							124.0	116.0	119.0					6																	132939136		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939136T>C	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.209A>G	6.37:g.132939136T>C	ENSP00000356908:p.Tyr70Cys					TAAR2_ENST00000367931.1_Missense_Mutation_p.Y70C|TAAR2_ENST00000537809.1_Missense_Mutation_p.Y25C	p.Y25C	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	181	-	Breast(56;0.135)		70					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.74A>G	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497451	0.64186	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.37235	1.21;1.21;1.21	5.7	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.083254	0.51477	D	0.000088	T	0.32704	0.0838	N	0.25201	0.72	0.39048	D	0.960273	D	0.89917	1.0	D	0.77557	0.99	T	0.35992	-0.9766	10	0.87932	D	0	-25.606	12.29	0.54812	0.1272:0.0:0.0:0.8728	.	70	Q9P1P5	TAAR2_HUMAN	C	25;70;25	ENSP00000275191:Y25C;ENSP00000356908:Y70C;ENSP00000441263:Y25C	ENSP00000275191:Y25C	Y	-	2	0	TAAR2	132980829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.403000	0.52615	1.041000	0.40125	0.528000	0.53228	TAC		0.428	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		10	59	0	0	0	1	0	10	59				
LGR5	8549	broad.mit.edu	37	12	71974137	71974137	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:71974137A>G	ENST00000266674.5	+	16	1797	c.1486A>G	c.(1486-1488)Aat>Gat	p.N496D	LGR5_ENST00000540815.2_Missense_Mutation_p.N472D|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.N424D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	496					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TAATCAATGGAATAAAGGTGA	0.393																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1486-1488)Aat>Gat		leucine-rich repeat containing G protein-coupled receptor 5							251.0	238.0	242.0					12																	71974137		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71974137A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1486A>G	12.37:g.71974137A>G	ENSP00000266674:p.Asn496Asp					LGR5_ENST00000536515.1_Missense_Mutation_p.N424D|LGR5_ENST00000540815.2_Missense_Mutation_p.N472D	p.N496D			O75473	LGR5_HUMAN			16	1797	+			496					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1486A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983245	0.35036	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.58210	0.39;0.35;0.48	5.62	5.62	0.85841	.	0.247280	0.35096	N	0.003455	T	0.58566	0.2131	M	0.82716	2.605	0.44330	D	0.997213	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58064	-0.7702	10	0.45353	T	0.12	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	472;496	O75473-2;O75473	.;LGR5_HUMAN	D	496;496;424;472	ENSP00000266674:N496D;ENSP00000443033:N424D;ENSP00000441035:N472D	ENSP00000266674:N496D	N	+	1	0	LGR5	70260404	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	4.178000	0.58284	2.260000	0.74910	0.528000	0.53228	AAT		0.393	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		31	205	0	0	0	1	0	31	205				
TG	7038	broad.mit.edu	37	8	134128882	134128882	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:134128882A>G	ENST00000220616.4	+	45	7824	c.7784A>G	c.(7783-7785)gAc>gGc	p.D2595G	TG_ENST00000542445.1_Missense_Mutation_p.D965G|TG_ENST00000377869.1_Missense_Mutation_p.D2538G|TG_ENST00000519543.1_Missense_Mutation_p.D728G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2595					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTATAATCGACATGGCCAGT	0.537																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7783-7785)gAc>gGc		thyroglobulin							102.0	91.0	95.0					8																	134128882		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134128882A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7784A>G	8.37:g.134128882A>G	ENSP00000220616:p.Asp2595Gly					TG_ENST00000542445.1_Missense_Mutation_p.D965G|TG_ENST00000519543.1_Missense_Mutation_p.D728G|TG_ENST00000377869.1_Missense_Mutation_p.D2538G	p.D2595G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	45	7824	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2595					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7784A>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193850	0.58017	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;0.86	5.68	1.79	0.24919	Carboxylesterase, type B (1);	0.351124	0.27744	N	0.018028	T	0.58018	0.2093	L	0.48877	1.53	0.29591	N	0.848405	P;B;P	0.45044	0.849;0.168;0.849	B;B;B	0.43990	0.338;0.047;0.438	T	0.58120	-0.7692	10	0.72032	D	0.01	.	6.6445	0.22927	0.6066:0.3154:0.0779:0.0	.	728;965;2595	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	G	2538;1401;2595;965;728;44	ENSP00000367100:D2538G;ENSP00000220616:D2595G;ENSP00000441693:D965G;ENSP00000430430:D728G;ENSP00000430161:D44G	ENSP00000220616:D2595G	D	+	2	0	TG	134198064	0.956000	0.32656	0.946000	0.38457	0.648000	0.38561	0.749000	0.26320	0.431000	0.26258	0.454000	0.30748	GAC		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		52	59	0	0	0	1	0	52	59				
BOD1L1	259282	broad.mit.edu	37	4	13600893	13600893	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:13600893C>T	ENST00000040738.5	-	10	7766	c.7631G>A	c.(7630-7632)gGg>gAg	p.G2544E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2544						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGCCACGGTCCCTTGAACAGG	0.493											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7630-7632)gGg>gAg		biorientation of chromosomes in cell division 1-like 1							79.0	68.0	72.0					4																	13600893		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13600893C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7631G>A	4.37:g.13600893C>T	ENSP00000040738:p.Gly2544Glu		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.G2544E	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7766	-			2544					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7631G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063493	0.07273	.	.	ENSG00000038219	ENST00000040738	T	0.05199	3.48	4.44	0.125	0.14718	.	0.919254	0.09192	N	0.835885	T	0.02047	0.0064	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45948	-0.9226	10	0.02654	T	1	.	3.3333	0.07092	0.1703:0.2082:0.0:0.6215	.	2544	Q8NFC6	BOD1L_HUMAN	E	2544	ENSP00000040738:G2544E	ENSP00000040738:G2544E	G	-	2	0	BOD1L	13209991	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.125000	0.15749	0.189000	0.20188	-0.378000	0.06908	GGG		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		9	9	0	0	0	1	0	9	9				
IGLV3-12	28802	broad.mit.edu	37	22	23114830	23114830	+	RNA	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr22:23114830A>G	ENST00000390313.2	+	0	111									immunoglobulin lambda variable 3-12																		TGGCCACAGCACAGATGGCCA	0.498																																						ENST00000390313.2																			0																				29.0	32.0	31.0					22																	23114830		2003	4166	6169			0							g.chr22:23114830A>G	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23114830A>G														0	111	+									RNA	SNP	ENST00000390313.2	37																																																																																						0.498	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		10	16	0	0	0	1	0	10	16				
CDH12	1010	broad.mit.edu	37	5	21817119	21817119	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:21817119C>A	ENST00000382254.1	-	9	2023	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	CDH12_ENST00000504376.2_Missense_Mutation_p.G313W|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	313	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAATTTCCCCCATCTCCTGGA	0.383										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(937-939)Ggg>Tgg		cadherin 12, type 2 (N-cadherin 2)							150.0	148.0	149.0					5																	21817119		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817119C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.937G>T	5.37:g.21817119C>A	ENSP00000371689:p.Gly313Trp	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.G313W|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000521384.1_5'UTR	p.G313W	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			9	2023	-			313			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.937G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389102	0.82902	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51817	0.69;0.69;0.69	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81782	-0.0775	10	0.87932	D	0	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	273;313	B7Z2U6;P55289	.;CAD12_HUMAN	W	313;313;273	ENSP00000423577:G313W;ENSP00000371689:G313W;ENSP00000428786:G273W	ENSP00000371689:G313W	G	-	1	0	CDH12	21852876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.435000	0.82474	0.585000	0.79938	GGG		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		43	49	1	0	1.31131e-34	1	1.43051e-34	43	49				
CMAS	55907	broad.mit.edu	37	12	22199458	22199458	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:22199458G>C	ENST00000229329.2	+	1	351	c.221G>C	c.(220-222)tGg>tCg	p.W74S		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	74					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCATTGGCTGGGTCCTGCGT	0.692																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(220-222)tGg>tCg		cytidine monophosphate N-acetylneuraminic acid synthetase							9.0	12.0	11.0					12																	22199458		2193	4291	6484	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22199458G>C	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.221G>C	12.37:g.22199458G>C	ENSP00000229329:p.Trp74Ser						p.W74S	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			1	351	+			74					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.221G>C	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683626	0.88639	.	.	ENSG00000111726	ENST00000229329	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	M	0.93062	3.375	0.80722	D	1	D	0.56287	0.975	D	0.73708	0.981	D	0.89168	0.3535	9	0.87932	D	0	-8.9049	15.9773	0.80079	0.0:0.0:1.0:0.0	.	74	Q8NFW8	NEUA_HUMAN	S	74	.	ENSP00000229329:W74S	W	+	2	0	CMAS	22090725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.389000	0.90172	2.426000	0.82243	0.655000	0.94253	TGG		0.692	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		14	22	0	0	0	1	0	14	22				
NTRK1	4914	broad.mit.edu	37	1	156846352	156846352	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:156846352A>G	ENST00000524377.1	+	14	1834	c.1793A>G	c.(1792-1794)aAc>aGc	p.N598S	NTRK1_ENST00000368196.3_Missense_Mutation_p.N592S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGGGACCTCAACCGCTTCCTC	0.642			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1774-1776)aAc>aGc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						22.0	21.0	21.0					1																	156846352		2203	4297	6500	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846352A>G	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1793A>G	1.37:g.156846352A>G	ENSP00000431418:p.Asn598Ser	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.N598S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S	p.N592S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			13	1895	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		598			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1775A>G	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795929	0.90453	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.088859	0.48767	D	0.000176	D	0.85775	0.5775	N	0.11284	0.12	0.80722	D	1	D;D;D;D	0.89917	0.987;0.958;0.995;1.0	D;P;P;D	0.91635	0.951;0.462;0.708;0.999	D	0.90095	0.4180	10	0.72032	D	0.01	.	14.1543	0.65407	1.0:0.0:0.0:0.0	.	595;592;598;562	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	562;592;598;595	ENSP00000376120:N562S;ENSP00000357179:N592S;ENSP00000431418:N598S;ENSP00000351486:N595S	ENSP00000351486:N595S	N	+	2	0	NTRK1	155112976	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.106000	0.94253	2.216000	0.71823	0.459000	0.35465	AAC		0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		11	22	0	0	0	1	0	11	22				
RHBDF1	64285	broad.mit.edu	37	16	109807	109807	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:109807G>A	ENST00000262316.6	-	14	1882	c.1740C>T	c.(1738-1740)agC>agT	p.S580S		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	580					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.S580S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGTTCCCAGCGCTGTTTTTGG	0.592																																						ENST00000262316.6																			1	Substitution - coding silent(1)	p.S580S(1)	pancreas(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1738-1740)agC>agT		rhomboid 5 homolog 1 (Drosophila)							170.0	127.0	142.0					16																	109807		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:109807G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1740C>T	16.37:g.109807G>A							p.S580S	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			14	1882	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	580					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.1740C>T	CCDS32344.1																																																																																				0.592	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		21	23	0	0	0	1	0	21	23				
TDRD6	221400	broad.mit.edu	37	6	46660106	46660106	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:46660106T>C	ENST00000316081.6	+	1	4241	c.4241T>C	c.(4240-4242)tTg>tCg	p.L1414S	TDRD6_ENST00000544460.1_Missense_Mutation_p.L1414S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1414					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGCCGGGGTTGTGCATTCAT	0.408																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4240-4242)tTg>tCg		tudor domain containing 6							192.0	198.0	196.0					6																	46660106		2202	4299	6501	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660106T>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4241T>C	6.37:g.46660106T>C	ENSP00000346065:p.Leu1414Ser					TDRD6_ENST00000316081.6_Missense_Mutation_p.L1414S	p.L1414S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4495	+			1414					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4241T>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433714	0.25813	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11385	2.78;2.78	5.77	5.77	0.91146	Maternal tudor protein (1);	0.602754	0.17556	N	0.169969	T	0.22975	0.0555	M	0.84433	2.695	0.35361	D	0.788218	D;D	0.63046	0.99;0.992	P;P	0.61800	0.83;0.894	T	0.12734	-1.0536	10	0.22109	T	0.4	-8.9271	16.383	0.83481	0.0:0.0:0.0:1.0	.	1414;1414	F5H5M3;O60522	.;TDRD6_HUMAN	S	1414	ENSP00000443299:L1414S;ENSP00000346065:L1414S	ENSP00000346065:L1414S	L	+	2	0	TDRD6	46768065	0.983000	0.35010	0.233000	0.24025	0.020000	0.10135	4.245000	0.58734	2.326000	0.78906	0.533000	0.62120	TTG		0.408	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		76	122	0	0	0	1	0	76	122				
RGPD3	653489	broad.mit.edu	37	2	107032445	107032445	+	Splice_Site	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:107032445T>C	ENST00000409886.3	-	21	5012	c.4925A>G	c.(4924-4926)gAg>gGg	p.E1642G	RGPD3_ENST00000304514.7_Splice_Site_p.E1642G	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1642					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAATGGAGGCTCTGCAACATG	0.328																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.e21-1		RANBP2-like and GRIP domain containing 3							64.0	47.0	52.0					2																	107032445		692	1591	2283	SO:0001630	splice_region_variant	653489				intracellular transport		binding	g.chr2:107032445T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4925-1A>G	2.37:g.107032445T>C						RGPD3_ENST00000304514.7_Splice_Site_p.E1642_splice	p.E1642_splice	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			21	5012	-			1642					B8ZZM4	Splice_Site	SNP	ENST00000409886.3	37	c.4924_splice	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.201	0.035970	0.08148	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.44083	0.93;0.93	0.701	0.701	0.18104	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.22479	N	0.999063	B	0.06786	0.001	B	0.04013	0.001	T	0.18650	-1.0330	9	0.33141	T	0.24	.	5.6646	0.17689	0.0:0.0:0.0:1.0	.	1642	A6NKT7	RGPD3_HUMAN	G	16;1642;1009;1642	ENSP00000386588:E1642G;ENSP00000303659:E1642G	ENSP00000303659:E1642G	E	-	2	0	RGPD3	106398877	1.000000	0.71417	0.935000	0.37517	0.144000	0.21451	5.866000	0.69590	0.561000	0.29186	0.138000	0.15974	GAG		0.328	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	Missense_Mutation	13	65	0	0	0	1	0	13	65				
LILRB1	10859	broad.mit.edu	37	19	55143565	55143565	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:55143565G>A	ENST00000396331.1	+	6	895	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	LILRB1_ENST00000396315.1_Missense_Mutation_p.A180T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A180T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A180T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A180T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A180T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A180T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A180T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A216T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A180T|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Missense_Mutation_p.A180T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	180	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTCGTCCCGCGCCATCTTCTC	0.577										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(538-540)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							130.0	127.0	128.0					19																	55143565		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143565G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.538G>A	19.37:g.55143565G>A	ENSP00000379622:p.Ala180Thr	HNSCC(37;0.09)				LILRB1_ENST00000396321.2_Missense_Mutation_p.A180T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A216T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A180T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A180T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A180T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A180T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A180T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A180T	p.A180T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	895	+			180			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.538G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331391	0.41297	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9	1.57	0.466	0.16716	Immunoglobulin-like fold (1);	0.254617	0.27917	N	0.017339	T	0.12817	0.0311	M	0.82056	2.57	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.97;0.999;0.942;0.972;1.0	T	0.06162	-1.0842	10	0.87932	D	0	.	3.4649	0.07547	0.2881:0.0:0.7119:0.0	.	180;180;180;180;180	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	180;180;180;180;180;180;180;180;216;180;180	ENSP00000379614:A180T;ENSP00000391514:A180T;ENSP00000409968:A180T;ENSP00000379622:A180T;ENSP00000379618:A180T;ENSP00000315997:A180T;ENSP00000405243:A180T;ENSP00000379623:A180T;ENSP00000395004:A216T;ENSP00000379610:A180T;ENSP00000379608:A180T	ENSP00000315997:A180T	A	+	1	0	LILRB1	59835377	0.009000	0.17119	0.002000	0.10522	0.009000	0.06853	0.833000	0.27504	0.197000	0.20387	0.184000	0.17185	GCC		0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			86	21	0	0	0	1	0	86	21				
GRM2	2912	broad.mit.edu	37	3	51751835	51751835	+	Splice_Site	SNP	T	T	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:51751835T>A	ENST00000395052.3	+	5	2779		c.e5+2		GRM2_ENST00000442933.2_Splice_Site|GRM2_ENST00000475478.1_Splice_Site	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGGCCAAGGTCAGTGTCCTA	0.622																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e5+2		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						45.0	43.0	44.0					3																	51751835		2203	4300	6503	SO:0001630	splice_region_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51751835T>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2545+2T>A	3.37:g.51751835T>A						GRM2_ENST00000442933.2_Splice_Site|GRM2_ENST00000475478.1_Splice_Site		NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	2779	+								B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Splice_Site	SNP	ENST00000395052.3	37		CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117081	0.77323	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9121	0.58184	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRM2	51726875	1.000000	0.71417	0.996000	0.52242	0.807000	0.45602	3.446000	0.52928	2.196000	0.70406	0.496000	0.49642	.		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		Intron	20	42	0	0	0	1	0	20	42				
SYNRG	11276	broad.mit.edu	37	17	35902074	35902074	+	Splice_Site	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:35902074C>T	ENST00000339208.6	-	15	3342	c.3202G>A	c.(3202-3204)Gga>Aga	p.G1068R	SYNRG_ENST00000394378.2_Splice_Site_p.G990R|SYNRG_ENST00000346661.4_Splice_Site_p.G1068R|SYNRG_ENST00000345615.4_Splice_Site_p.G990R|SYNRG_ENST00000591288.1_Splice_Site_p.G862R|SYNRG_ENST00000585472.1_Splice_Site_p.G989R|SYNRG_ENST00000502449.2_Splice_Site_p.G945R	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1068					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTACTCACCTTGAACAGAA	0.373																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e15+1		synergin, gamma							93.0	95.0	94.0					17																	35902074		2203	4300	6503	SO:0001630	splice_region_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902074C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3202+1G>A	17.37:g.35902074C>T						SYNRG_ENST00000394378.2_Splice_Site_p.G990_splice|SYNRG_ENST00000346661.4_Splice_Site_p.G1068_splice|SYNRG_ENST00000345615.4_Splice_Site_p.G990_splice|SYNRG_ENST00000591288.1_Splice_Site_p.G862_splice|SYNRG_ENST00000585472.1_Splice_Site_p.G989_splice|SYNRG_ENST00000502449.2_Splice_Site_p.G945_splice	p.G1068_splice	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	3342	-			1068					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Splice_Site	SNP	ENST00000339208.6	37	c.3202_splice	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928672	0.92389	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.58652	0.85;0.32	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.75836	-0.3177	10	0.72032	D	0.01	-11.0239	19.2671	0.93993	0.0:1.0:0.0:0.0	.	862;990;990;990;1068;1068	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	R	1068;862;1068;990;990	ENSP00000005279:G1068R;ENSP00000377903:G990R	ENSP00000343610:G862R	G	-	1	0	SYNRG	32976187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.788000	0.95919	0.650000	0.86243	GGA		0.373	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	Missense_Mutation	56	78	0	0	0	1	0	56	78				
CD300LF	146722	broad.mit.edu	37	17	72700686	72700686	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72700686T>C	ENST00000326165.6	-	2	424	c.313A>G	c.(313-315)Act>Gct	p.T105A	CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A|CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A|CD300LF_ENST00000469092.1_Missense_Mutation_p.T108A	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	105	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACCAGTAAGTGTCAGCATCA	0.478																																						ENST00000469092.1																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(322-324)Act>Gct		CD300 molecule-like family member f							260.0	219.0	233.0					17																	72700686		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72700686T>C	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.313A>G	17.37:g.72700686T>C	ENSP00000327075:p.Thr105Ala					CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A|CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|CD300LF_ENST00000326165.6_Missense_Mutation_p.T105A|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A	p.T108A			Q8TDQ1	CLM1_HUMAN			3	598	-			105			Ig-like V-type.		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.322A>G	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609880	0.66558	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.29	-2.06	0.07298	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.778750	0.03190	N	0.173214	T	0.67373	0.2886	M	0.86502	2.82	0.09310	N	1	B;B;B;P;B;B	0.43909	0.103;0.399;0.278;0.821;0.026;0.025	B;B;B;B;B;B	0.33568	0.05;0.069;0.148;0.166;0.031;0.018	T	0.57717	-0.7763	10	0.41790	T	0.15	.	3.6584	0.08229	0.3758:0.1748:0.0:0.4494	.	105;108;108;105;105;108	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	A	105;108;108;105	ENSP00000301573:T105A;ENSP00000355294:T108A;ENSP00000343751:T108A;ENSP00000327075:T105A	ENSP00000301573:T105A	T	-	1	0	CD300LF	70212281	0.000000	0.05858	0.000000	0.03702	0.890000	0.51754	-1.686000	0.01929	-0.212000	0.10109	0.533000	0.62120	ACT		0.478	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		86	120	0	0	0	1	0	86	120				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		6	49	0	0	0	1	0	6	49				
UGT1A1	54658	broad.mit.edu	37	2	234526858	234526858	+	Missense_Mutation	SNP	G	G	A	rs549093448		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:234526858G>A	ENST00000373450.4	+	1	568	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	172					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTGGTCTTCGCCAGGGGAAT	0.468													-|||	1	0.000199681	0.0	0.0	5008	,	,		18096	0.0		0.0	False		,,,				2504	0.001					ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(505-507)Gcc>Acc									167.0	170.0	169.0					2																	234526858		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526858G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.505G>A	2.37:g.234526858G>A	ENSP00000362549:p.Ala169Thr						p.A169T	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	568	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.505G>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184013	0.09495	.	.	ENSG00000242366	ENST00000373450	T	0.61742	0.08	3.96	-2.17	0.07059	.	.	.	.	.	T	0.27663	0.0680	N	0.03115	-0.41	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.13683	-1.0500	9	0.62326	D	0.03	.	3.4087	0.07351	0.4335:0.0:0.2941:0.2724	.	169;169	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	T	169	ENSP00000362549:A169T	ENSP00000362549:A169T	A	+	1	0	UGT1A8	234191597	0.000000	0.05858	0.047000	0.18901	0.040000	0.13550	-1.956000	0.01522	-0.461000	0.06993	-0.438000	0.05819	GCC		0.468	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			64	126	0	0	0	1	0	64	126				
TEAD3	7005	broad.mit.edu	37	6	35454437	35454437	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:35454437T>C	ENST00000402886.3	-	0	104				TEAD3_ENST00000338863.7_Missense_Mutation_p.I1M			Q99594	TEAD3_HUMAN	TEA domain family member 3						female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGTTGGACGCTATTGTGCTGG	0.682																																						ENST00000402886.3																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10								TEA domain family member 3							22.0	26.0	24.0					6																	35454437		2040	4187	6227			7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35454437T>C	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.-50A>G	6.37:g.35454437T>C						TEAD3_ENST00000338863.7_Missense_Mutation_p.I1M				Q99594	TEAD3_HUMAN			0	104	-								O95910|Q5BJG7|Q8N6Y4	Translation_Start_Site	SNP	ENST00000402886.3	37			.	.	.	.	.	.	.	.	.	.	t	13.55	2.271577	0.40194	.	.	ENSG00000007866	ENST00000338863;ENST00000373905	T	0.58060	0.36	4.97	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.19046	0.0457	.	.	.	0.80722	D	1	B	0.21606	0.058	B	0.18871	0.023	T	0.06643	-1.0815	9	0.32370	T	0.25	-10.2107	5.1775	0.15143	0.1595:0.085:0.0:0.7555	.	17	Q7Z6V0	.	M	1;17	ENSP00000345772:I1M	ENSP00000345772:I1M	I	-	3	3	TEAD3	35562415	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	2.147000	0.42226	0.831000	0.34780	-0.711000	0.03637	ATA		0.682	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			3	71	0	0	0	1	0	3	71				
OR10K1	391109	broad.mit.edu	37	1	158435787	158435787	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:158435787G>A	ENST00000289451.2	+	1	516	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGACTAATGGCTGCTGCCTG	0.552																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(436-438)Gct>Act		olfactory receptor, family 10, subfamily K, member 1							212.0	198.0	203.0					1																	158435787		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435787G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.436G>A	1.37:g.158435787G>A	ENSP00000289451:p.Ala146Thr						p.A146T	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	516	+	all_hematologic(112;0.0378)		146					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.436G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	16.61	3.172208	0.57584	.	.	ENSG00000173285	ENST00000289451	T	0.39997	1.05	4.5	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.170040	0.27927	N	0.017286	T	0.28632	0.0709	L	0.37897	1.145	0.23813	N	0.996777	P	0.49783	0.928	P	0.58970	0.849	T	0.05194	-1.0900	10	0.40728	T	0.16	.	6.5655	0.22509	0.0934:0.0:0.725:0.1816	.	146	Q8NGX5	O10K1_HUMAN	T	146	ENSP00000289451:A146T	ENSP00000289451:A146T	A	+	1	0	OR10K1	156702411	0.037000	0.19845	0.964000	0.40570	0.672000	0.39443	1.304000	0.33482	1.050000	0.40346	0.557000	0.71058	GCT		0.552	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			15	234	0	0	0	1	0	15	234				
DYNC1I2	1781	broad.mit.edu	37	2	172549335	172549335	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:172549335C>T	ENST00000397119.3	+	3	324	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAATCAGATCTTGAAAAAAA	0.353																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(157-159)Ctt>Ttt		dynein, cytoplasmic 1, intermediate chain 2							44.0	43.0	43.0					2																	172549335		1836	4092	5928	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172549335C>T	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.157C>T	2.37:g.172549335C>T	ENSP00000380308:p.Leu53Phe					DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F	p.L53F			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		3	325	+			53					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.157C>T	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627962	0.87560	.	.	ENSG00000077380	ENST00000452242;ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000438879;ENST00000508530;ENST00000409197;ENST00000456808;ENST00000409317;ENST00000409773;ENST00000411953;ENST00000409453;ENST00000358002;ENST00000435234;ENST00000443458;ENST00000412370;ENST00000423910;ENST00000425485;ENST00000430778;ENST00000422646	T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.12;-1.21;-1.09;-0.97;-0.88;-0.88;-1.12;-1.09;-0.97;-0.83;-0.88	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	M	0.71581	2.175	0.58432	D	0.999995	D;D;D;D;D	0.71674	0.997;0.995;0.998;0.998;0.997	D;D;D;D;D	0.74674	0.951;0.965;0.984;0.984;0.951	D	0.86342	0.1705	10	0.54805	T	0.06	-16.5844	13.1532	0.59500	0.0:0.9272:0.0:0.0728	.	53;53;53;53;53	B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	F	53	ENSP00000339430:L53F;ENSP00000433791:L53F;ENSP00000263811:L53F;ENSP00000380308:L53F;ENSP00000386522:L53F;ENSP00000423339:L53F;ENSP00000386397:L53F;ENSP00000386591:L53F;ENSP00000386415:L53F;ENSP00000386886:L53F;ENSP00000350692:L53F	ENSP00000263811:L53F	L	+	1	0	DYNC1I2	172257581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.514000	0.60482	2.712000	0.92718	0.585000	0.79938	CTT		0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		6	8	0	0	0	1	0	6	8				
SZT2	23334	broad.mit.edu	37	1	43897195	43897195	+	Splice_Site	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:43897195G>A	ENST00000562955.1	+	34	4917		c.e34+1		SZT2_ENST00000372442.1_Splice_Site	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)						central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CATGAATGAGGTGAGCCCCCC	0.498																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.e34+1		seizure threshold 2 homolog (mouse)							107.0	106.0	107.0					1																	43897195		2203	4300	6503	SO:0001630	splice_region_variant	23334					peroxisome		g.chr1:43897195G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4917+1G>A	1.37:g.43897195G>A						SZT2_ENST00000372442.1_Splice_Site		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			34	4917	+								A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Splice_Site	SNP	ENST00000562955.1	37		CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183813	0.78677	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SZT2	43669782	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.219000	0.95173	2.664000	0.90586	0.655000	0.94253	.		0.498	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Intron	81	10	0	0	0	1	0	81	10				
DDX19B	11269	broad.mit.edu	37	16	70363827	70363827	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:70363827C>T	ENST00000288071.6	+	9	1124	c.879C>T	c.(877-879)aaC>aaT	p.N293N	DDX19B_ENST00000568625.1_Silent_p.N184N|DDX19B_ENST00000563392.1_Silent_p.N184N|DDX19B_ENST00000563206.1_Silent_p.N298N|DDX19B_ENST00000355992.3_Silent_p.N262N|DDX19B_ENST00000393657.2_Silent_p.N184N|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000451014.3_Silent_p.N267N|RP11-529K1.2_ENST00000562077.1_RNA	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CAGACCCAAACGTTATCAAAC	0.527																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(877-879)aaC>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							174.0	153.0	160.0					16																	70363827		2198	4300	6498	SO:0001819	synonymous_variant	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363827C>T	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.879C>T	16.37:g.70363827C>T						DDX19B_ENST00000355992.3_Silent_p.N262N|DDX19B_ENST00000393657.2_Silent_p.N184N|DDX19B_ENST00000568625.1_Silent_p.N184N|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563392.1_Silent_p.N184N|DDX19B_ENST00000451014.3_Silent_p.N267N|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Silent_p.N298N	p.N293N	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			9	1124	+		Ovarian(137;0.0694)	293			Helicase ATP-binding.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	ENST00000288071.6	37	c.879C>T	CCDS10888.1																																																																																				0.527	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		4	150	0	0	0	1	0	4	150				
GIMAP7	168537	broad.mit.edu	37	7	150217736	150217736	+	Missense_Mutation	SNP	C	C	T	rs199951983		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:150217736C>T	ENST00000313543.4	+	2	831	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	225					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAATCTACACTGACCAATTA	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15950	0.0		0.0	False		,,,				2504	0.0					ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(673-675)aCt>aTt		GTPase, IMAP family member 7							65.0	65.0	65.0					7																	150217736		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217736C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.674C>T	7.37:g.150217736C>T	ENSP00000315474:p.Thr225Ile						p.T225I	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	831	+			225						Missense_Mutation	SNP	ENST00000313543.4	37	c.674C>T	CCDS5903.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.465	0.270847	0.10349	.	.	ENSG00000179144	ENST00000313543	T	0.61980	0.06	4.62	1.72	0.24424	.	0.963801	0.08508	N	0.935356	T	0.48677	0.1513	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.34304	-0.9834	10	0.37606	T	0.19	.	5.156	0.15034	0.1446:0.6262:0.141:0.0882	.	225	Q8NHV1	GIMA7_HUMAN	I	225	ENSP00000315474:T225I	ENSP00000315474:T225I	T	+	2	0	GIMAP7	149848669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.134000	0.03228	0.022000	0.15160	-0.797000	0.03246	ACT		0.343	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		37	51	0	0	0	1	0	37	51				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		6	56	0	0	0	1	0	6	56				
NOL4L	140688	broad.mit.edu	37	20	31035488	31035488	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035488G>A	ENST00000359676.5	-	8	1364	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		408						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ATGAGCTGCCGCACGGCGCTG	0.667																																						ENST00000359676.5																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						c.(1222-1224)Cgg>Tgg		chromosome 20 open reading frame 112							30.0	31.0	30.0					20																	31035488		2203	4300	6503	SO:0001583	missense	140688							g.chr20:31035488G>A																												ENST00000359676.5:c.1222C>T	20.37:g.31035488G>A	ENSP00000352704:p.Arg408Trp						p.R408W	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN			8	1364	-			408					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	c.1222C>T	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812086	0.50527	.	.	ENSG00000197183	ENST00000359676	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81328	-0.0982	9	0.87932	D	0	-31.147	18.547	0.91050	0.0:0.0:1.0:0.0	.	408	Q96MY1	CT112_HUMAN	W	408	.	ENSP00000352704:R408W	R	-	1	2	C20orf112	30499149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.133000	0.64764	2.680000	0.91292	0.561000	0.74099	CGG		0.667	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			40	45	0	0	0	1	0	40	45				
LYPD6B	130576	broad.mit.edu	37	2	150064872	150064872	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:150064872G>A	ENST00000409029.1	+	5	404	c.202G>A	c.(202-204)Gca>Aca	p.A68T	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Missense_Mutation_p.A92T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	68	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TTGTGAAAACGCAGGGGATAA	0.373																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(274-276)Gca>Aca		LY6/PLAUR domain containing 6B							163.0	147.0	152.0					2																	150064872		1852	4098	5950	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150064872G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.202G>A	2.37:g.150064872G>A	ENSP00000386650:p.Ala68Thr					LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000498249.1_3'UTR	p.A92T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			5	675	+			68			UPAR/Ly6.		D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	G	28.8	4.955177	0.92726	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.92	5.92	0.95590	Ly-6 antigen / uPA receptor -like (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.76328	2.33	0.51482	D	0.999925	D;D	0.76494	0.999;0.999	D;D	0.65773	0.918;0.938	T	0.26430	-1.0103	9	.	.	.	-13.8579	17.809	0.88610	0.0:0.0:1.0:0.0	.	68;92	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	T	92;68;68;92	ENSP00000387077:A92T;ENSP00000386479:A68T;ENSP00000386650:A68T;ENSP00000280115:A92T	.	A	+	1	0	LYPD6B	149773118	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.629000	0.83207	2.809000	0.96659	0.467000	0.42956	GCA		0.373	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		44	44	0	0	0	1	0	44	44				
DPY19L4	286148	broad.mit.edu	37	8	95768289	95768289	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:95768289T>G	ENST00000414645.2	+	7	736	c.637T>G	c.(637-639)Tcc>Gcc	p.S213A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	213						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATTGAATACTCCATTCCTTT	0.313																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(637-639)Tcc>Gcc		dpy-19-like 4 (C. elegans)							95.0	96.0	96.0					8																	95768289		2202	4299	6501	SO:0001583	missense	286148					integral to membrane		g.chr8:95768289T>G		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.637T>G	8.37:g.95768289T>G	ENSP00000389630:p.Ser213Ala						p.S213A	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			7	736	+	Breast(36;3.85e-06)		213					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.637T>G	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.52|13.52	2.260365|2.260365	0.39995|0.39995	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000523020|ENST00000414645	.|T	.|0.54866	.|0.55	5.29|5.29	4.15|4.15	0.48705|0.48705	.|.	.|0.057125	.|0.64402	.|D	.|0.000001	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.41236|0.41236	1.265|1.265	0.36270|0.36270	D|D	0.85508|0.85508	.|B	.|0.22851	.|0.076	.|B	.|0.20577	.|0.03	T|T	0.41963|0.41963	-0.9479|-0.9479	5|10	.|0.30078	.|T	.|0.28	-7.1105|-7.1105	10.6741|10.6741	0.45776|0.45776	0.0:0.0756:0.0:0.9244|0.0:0.0756:0.0:0.9244	.|.	.|213	.|Q7Z388	.|D19L4_HUMAN	R|A	56|213	.|ENSP00000389630:S213A	.|ENSP00000389630:S213A	L|S	+|+	2|1	0|0	DPY19L4|DPY19L4	95837465|95837465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.773000|4.773000	0.62331|0.62331	0.965000|0.965000	0.38133|0.38133	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.313	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		46	46	0	0	0	1	0	46	46				
FLRT2	23768	broad.mit.edu	37	14	86088048	86088048	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:86088048G>A	ENST00000330753.4	+	2	957	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	64					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCCCGGAGGGCGTAACTGT	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(190-192)Ggc>Agc		fibronectin leucine rich transmembrane protein 2							137.0	124.0	128.0					14																	86088048		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088048G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.190G>A	14.37:g.86088048G>A	ENSP00000332879:p.Gly64Ser					FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S	p.G64S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	957	+			64					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.190G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719153	0.68844	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02158	4.42;4.42	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.25647	0.755	0.80722	D	1	D	0.56968	0.978	P	0.54759	0.76	T	0.59348	-0.7471	10	0.30854	T	0.27	-19.3132	19.9036	0.96999	0.0:0.0:1.0:0.0	.	64	O43155	FLRT2_HUMAN	S	64	ENSP00000332879:G64S;ENSP00000451050:G64S	ENSP00000332879:G64S	G	+	1	0	FLRT2	85157801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GGC		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			81	90	0	0	0	1	0	81	90				
SLC2A4RG	56731	broad.mit.edu	37	20	62372750	62372750	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:62372750C>T	ENST00000266077.2	+	3	361	c.309C>T	c.(307-309)gaC>gaT	p.D103D	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCGGCTGGACGAGGTCATGG	0.677																																						ENST00000266077.2																			0				NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(307-309)gaC>gaT		SLC2A4 regulator							37.0	40.0	39.0					20																	62372750		2201	4299	6500	SO:0001819	synonymous_variant	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62372750C>T	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.309C>T	20.37:g.62372750C>T						SLC2A4RG_ENST00000493772.1_3'UTR	p.D103D	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN			3	361	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		103					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Silent	SNP	ENST00000266077.2	37	c.309C>T	CCDS13537.1																																																																																				0.677	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		8	99	0	0	0	1	0	8	99				
NPAP1	23742	broad.mit.edu	37	15	24921479	24921479	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:24921479A>T	ENST00000329468.2	+	1	939	c.465A>T	c.(463-465)gaA>gaT	p.E155D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGGCCCAAGAAGGGCCCAGAA	0.602																																						ENST00000329468.2																			0											c.(463-465)gaA>gaT		nuclear pore associated protein 1							34.0	33.0	33.0					15																	24921479		2203	4299	6502	SO:0001583	missense	23742							g.chr15:24921479A>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.465A>T	15.37:g.24921479A>T	ENSP00000333735:p.Glu155Asp						p.E155D	NM_018958.2	NP_061831.2					1	939	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.465A>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.963	1.223397	0.22457	.	.	ENSG00000185823	ENST00000329468	T	0.11495	2.77	2.12	-3.76	0.04359	.	0.860983	0.09511	N	0.792243	T	0.09949	0.0244	L	0.42245	1.32	0.09310	N	1	P	0.36683	0.565	B	0.43018	0.405	T	0.29181	-1.0020	10	0.30078	T	0.28	.	4.3241	0.11031	0.298:0.2229:0.4791:0.0	.	155	Q9NZP6	CO002_HUMAN	D	155	ENSP00000333735:E155D	ENSP00000333735:E155D	E	+	3	2	C15orf2	22472572	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.002000	0.12924	-1.008000	0.03404	-0.425000	0.05940	GAA		0.602	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	60	0	0	0	1	0	5	60				
COQ5	84274	broad.mit.edu	37	12	120966794	120966794	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:120966794C>T	ENST00000288532.6	-	1	191	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	COQ5_ENST00000445328.2_Missense_Mutation_p.E51K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	51					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTGCGTTTCCGCTGCCCGC	0.632																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(151-153)Gaa>Aaa		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							130.0	119.0	123.0					12																	120966794		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966794C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.151G>A	12.37:g.120966794C>T	ENSP00000288532:p.Glu51Lys					COQ5_ENST00000445328.2_Missense_Mutation_p.E51K	p.E51K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			1	191	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		51					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.151G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249910	0.59212	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.77229	-0.06;-1.08;-0.31	5.9	4.03	0.46877	.	0.270973	0.47852	D	0.000216	T	0.64875	0.2638	L	0.27053	0.805	0.23162	N	0.998198	B;B	0.18013	0.025;0.015	B;B	0.20955	0.032;0.005	T	0.57254	-0.7843	10	0.45353	T	0.12	.	10.1848	0.42991	0.0:0.7871:0.1366:0.0763	.	51;51	B4DP72;Q5HYK3	.;COQ5_HUMAN	K	51	ENSP00000288532:E51K;ENSP00000401798:E51K;ENSP00000449874:E51K	ENSP00000288532:E51K	E	-	1	0	COQ5	119451177	0.712000	0.27916	0.998000	0.56505	0.899000	0.52679	1.279000	0.33191	1.471000	0.48121	0.655000	0.94253	GAA		0.632	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		29	175	0	0	0	1	0	29	175				
HYAL1	3373	broad.mit.edu	37	3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:50338477G>A	ENST00000266031.4	-	2	1547	c.932C>T	c.(931-933)gCg>gTg	p.A311V	HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V|HYAL1_ENST00000395143.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	311					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCCTGGGCCGCACTCTCCCC	0.627																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(931-933)gCg>gTg		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						42.0	42.0	42.0					3																	50338477		2202	4300	6502	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50338477G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.932C>T	3.37:g.50338477G>A	ENSP00000266031:p.Ala311Val					HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V	p.A311V			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1547	-			311					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.932C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938613	0.52972	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000457214;ENST00000447605	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.66	1.72	0.24424	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.188469	0.45867	N	0.000340	T	0.12008	0.0292	L	0.39467	1.215	0.32376	N	0.55526	D;D	0.63880	0.977;0.993	B;B	0.35727	0.06;0.209	T	0.26258	-1.0108	10	0.33141	T	0.24	-1.6492	7.7088	0.28665	0.3036:0.0:0.6964:0.0	.	311;311	Q12794-7;Q12794	.;HYAL1_HUMAN	V	311;311;311;129;52	ENSP00000378576:A311V;ENSP00000266031:A311V;ENSP00000346068:A311V;ENSP00000393358:A129V;ENSP00000390149:A52V	ENSP00000266031:A311V	A	-	2	0	HYAL1	50313481	0.910000	0.30920	0.671000	0.29857	0.926000	0.56050	2.742000	0.47434	0.350000	0.24002	-0.251000	0.11542	GCG		0.627	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			3	38	0	0	0	1	0	3	38				
PTPRM	5797	broad.mit.edu	37	18	7888162	7888162	+	Silent	SNP	C	C	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:7888162C>A	ENST00000332175.8	+	3	1292	c.255C>A	c.(253-255)ctC>ctA	p.L85L	PTPRM_ENST00000580170.1_Silent_p.L85L|PTPRM_ENST00000400053.4_Silent_p.L23L|PTPRM_ENST00000400060.4_Silent_p.L85L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	85	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCACCTGCTCTTACCCCAAC	0.463																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(253-255)ctC>ctA		protein tyrosine phosphatase, receptor type, M							157.0	162.0	161.0					18																	7888162		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888162C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.255C>A	18.37:g.7888162C>A						PTPRM_ENST00000400053.4_Silent_p.L23L|PTPRM_ENST00000400060.4_Silent_p.L85L|PTPRM_ENST00000580170.1_Silent_p.L85L	p.L85L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1292	+		Colorectal(10;0.234)	85			MAM.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.255C>A	CCDS11840.1																																																																																				0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			4	138	1	0	0.00909568	1	0.00920527	4	138				
RBM46	166863	broad.mit.edu	37	4	155720132	155720132	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:155720132A>G	ENST00000281722.3	+	4	1053	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	RBM46_ENST00000510397.1_Missense_Mutation_p.Y273C|RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	273	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTAGAGATTATGCTTTTGTT	0.363																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(817-819)tAt>tGt		RNA binding motif protein 46							104.0	94.0	98.0					4																	155720132		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155720132A>G	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.818A>G	4.37:g.155720132A>G	ENSP00000281722:p.Tyr273Cys					RBM46_ENST00000281722.3_Missense_Mutation_p.Y273C|RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C	p.Y273C	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			4	997	+	all_hematologic(180;0.24)	Renal(120;0.0854)	273			RRM 3.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.818A>G	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339765	0.60963	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.76839	-1.05;-1.05;-1.05	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.52759	1.655	0.80722	D	1	P;P;P	0.50156	0.932;0.883;0.921	P;P;P	0.62740	0.599;0.906;0.856	D	0.85834	0.1393	10	0.87932	D	0	-15.6603	16.6288	0.85011	1.0:0.0:0.0:0.0	.	273;273;273	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	C	273	ENSP00000424500:Y273C;ENSP00000281722:Y273C;ENSP00000422813:Y273C	ENSP00000281722:Y273C	Y	+	2	0	RBM46	155939582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.806000	0.69150	2.326000	0.78906	0.533000	0.62120	TAT		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		14	13	0	0	0	1	0	14	13				
PBRM1	55193	broad.mit.edu	37	3	52643673	52643673	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:52643673C>T	ENST00000296302.7	-	16	2224	c.2223G>A	c.(2221-2223)ccG>ccA	p.P741P	PBRM1_ENST00000409114.3_Silent_p.P756P|PBRM1_ENST00000394830.3_Silent_p.P741P|PBRM1_ENST00000409767.1_Silent_p.P756P|PBRM1_ENST00000410007.1_Silent_p.P741P|PBRM1_ENST00000356770.4_Silent_p.P709P|PBRM1_ENST00000337303.4_Silent_p.P741P|PBRM1_ENST00000409057.1_Silent_p.P741P			Q86U86	PB1_HUMAN	polybromo 1	741	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAAGACTCCGGCTCATTGT	0.423			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2125-2127)ccG>ccA		polybromo 1							127.0	124.0	125.0					3																	52643673		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643673C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2223G>A	3.37:g.52643673C>T						PBRM1_ENST00000409767.1_Silent_p.P756P|PBRM1_ENST00000409114.3_Silent_p.P756P|PBRM1_ENST00000409057.1_Silent_p.P741P|PBRM1_ENST00000337303.4_Silent_p.P741P|PBRM1_ENST00000410007.1_Silent_p.P741P|PBRM1_ENST00000394830.3_Silent_p.P741P|PBRM1_ENST00000296302.7_Silent_p.P741P	p.P709P			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2129	-			741			Bromo 5.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.2127G>A																																																																																					0.423	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		11	84	0	0	0	1	0	11	84				
PCED1B	91523	broad.mit.edu	37	12	47629728	47629728	+	Silent	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:47629728A>G	ENST00000546455.1	+	4	1613	c.882A>G	c.(880-882)ttA>ttG	p.L294L	PCED1B_ENST00000432328.1_Silent_p.L294L|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	294	Pro-rich.						hydrolase activity (GO:0016787)										ccccacccttaccttccccca	0.642																																						ENST00000546455.1																			0											c.(880-882)ttA>ttG		PC-esterase domain containing 1B							24.0	27.0	26.0					12																	47629728		2202	4299	6501	SO:0001819	synonymous_variant	91523							g.chr12:47629728A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.882A>G	12.37:g.47629728A>G						PCED1B_ENST00000432328.1_Silent_p.L294L	p.L294L							4	1613	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.882A>G	CCDS8752.1																																																																																				0.642	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		11	32	0	0	0	1	0	11	32				
UTP20	27340	broad.mit.edu	37	12	101738436	101738436	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:101738436G>T	ENST00000261637.4	+	36	4687	c.4513G>T	c.(4513-4515)Gct>Tct	p.A1505S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1505				A -> P (in Ref. 1; CAA07243). {ECO:0000305}.	endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAAAGCTAGCTGCCTTGAA	0.373																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4513-4515)Gct>Tct		UTP20, small subunit (SSU) processome component, homolog (yeast)							119.0	118.0	118.0					12																	101738436		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101738436G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4513G>T	12.37:g.101738436G>T	ENSP00000261637:p.Ala1505Ser						p.A1505S	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			36	4687	+			1505	A -> P (in Ref. 1; CAA07243).				Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.4513G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301248	0.40694	.	.	ENSG00000120800	ENST00000261637	T	0.62788	-0.0	5.85	3.99	0.46301	Armadillo-type fold (1);	0.166036	0.52532	N	0.000061	T	0.61874	0.2382	M	0.77103	2.36	0.33565	D	0.597906	B	0.14012	0.009	B	0.12837	0.008	T	0.64816	-0.6318	10	0.15066	T	0.55	-13.038	15.4677	0.75416	0.0:0.0:0.7474:0.2526	.	1505	O75691	UTP20_HUMAN	S	1505	ENSP00000261637:A1505S	ENSP00000261637:A1505S	A	+	1	0	UTP20	100262567	1.000000	0.71417	0.128000	0.21923	0.738000	0.42128	6.034000	0.70933	0.778000	0.33520	0.655000	0.94253	GCT		0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		4	93	1	0	1.23904e-05	1	1.26926e-05	4	93				
SETD2	29072	broad.mit.edu	37	3	47088034	47088035	+	Frame_Shift_Ins	INS	-	-	TGTA			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47088034_47088035insTGTA	ENST00000409792.3	-	16	7082_7083	c.7040_7041insTACA	c.(7039-7041)cagfs	p.Q2347fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2347	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGCGGCTGGCTGTACCACCAC	0.455			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(7039-7041)cccfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47088034_47088035insTGTA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7037_7040dupTACA	3.37:g.47088035_47088038dupTGTA	ENSP00000386759:p.Gln2347fs						p.P2347fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	16	7082_7083	-		Acute lymphoblastic leukemia(5;0.0169)	2347			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.7040_7041insTACA	CCDS2749.2																																																																																				0.455	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		28	39						28	39	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aaafs	p.K92fs	DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254																																						ENST00000351747.2																			2	Deletion - Frameshift(2)	p.G93fs*7(2)	lung(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(274-276)aafs		dynein, axonemal, heavy chain 12			,	40,140,4046		0,0,40,1,138,1934	20.0	22.0	21.0		,	4.3	1.0	3	dbSNP_126	21	45,231,7912		0,0,45,1,229,3819	no	codingComplex,codingComplex	DNAH12	NM_198564.3,NM_178504.4	,	0,0,85,2,367,5753	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3708,4.2593,3.6733	,	,	57509313	85,371,11958	2183	4274	6457	SO:0001589	frameshift_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57509313delT	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.276delA	3.37:g.57509313delT	ENSP00000295937:p.Lys92fs					DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs	p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			4	456	-			92			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37	c.276delA																																																																																					0.254	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		3	5						3	5	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102902926	102902926	+	RNA	DEL	A	A	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:102902926delA	ENST00000312132.4	-	0	2401							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TTAAAACATGAAAAaaaaagg	0.383																																						ENST00000312132.4																			0																																																			0							g.chr7:102902926delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102902926delA														0	2401	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.383	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		2	4						2	4	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)gggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGCTGTACGGGGGGGAGGT	0.587																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4462-4464)ggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						106.0	93.0	97.0					12																	57572242		2203	4300	6503	SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572242delG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4462delG	12.37:g.57572242delG	ENSP00000243077:p.Gly1489fs						p.G1489fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4928	+			1489					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.4462delG	CCDS8932.1																																																																																				0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	167						8	167	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48936948	48936966	+	Splice_Site	DEL	CAGAAACAGCTGTTATACC	CAGAAACAGCTGTTATACC	-	rs147754935	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr13:48936948_48936966delCAGAAACAGCTGTTATACC	ENST00000267163.4	+	8	856_872	c.718_734delCAGAAACAGCTGTTATACC	c.(718-735)cagaaacagctgttatac>c	p.QKQLLY240fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	240					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.K240_A242>T(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCACTTTTACAGAAACAGCTGTTATACCCATTAATGGT	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(6)|Complex - deletion inframe(1)	p.0?(15)|p.?(6)|p.K240_A242>T(1)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CX011719	RB1	X		c.e8-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48936948_48936966delCAGAAACAGCTGTTATACC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.719-1CAGAAACAGCTGTTATACC>-	13.37:g.48936948_48936966delCAGAAACAGCTGTTATACC		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.240_splice	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	856_872	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	240					A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	DEL	ENST00000267163.4	37	c.718_splice	CCDS31973.1																																																																																				0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Frame_Shift_Del	11	7						11	7	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530586	51530587	+	Frame_Shift_Ins	INS	-	-	A	rs200320729|rs75254367|rs112937854	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr13:51530586_51530587insA	ENST00000336617.3	+	11	1314_1315	c.915_916insA	c.(916-918)aaafs	p.K306fs	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	306					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGGTAAAAAATAAAAAAAAAAT	0.297													|||unknown(HR)	150	0.0299521	0.0537	0.0058	5008	,	,		16879	0.004		0.0258	False		,,,				2504	0.046					ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(913-918)aaaaaafs		ribonuclease H2, subunit B																																				SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530586_51530587insA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.925dupA	13.37:g.51530596_51530596dupA	ENSP00000337623:p.Lys306fs					RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.KK305fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1314_1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	305					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Ins	INS	ENST00000336617.3	37	c.915_916insA	CCDS9425.1																																																																																				0.297	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		7	0						7	0	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		2	4						2	4	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	132						8	132	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40541052	40541052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:40541052delG	ENST00000434248.1	-	5	1779	c.1714delC	c.(1714-1716)cttfs	p.L572fs	ZNF780B_ENST00000221355.6_Frame_Shift_Del_p.L424fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	572					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTGATTAAGATTTGAACCA	0.383																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1714-1716)ttfs		zinc finger protein 780B							95.0	104.0	101.0					19																	40541052		2203	4300	6503	SO:0001589	frameshift_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541052delG	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1714delC	19.37:g.40541052delG	ENSP00000391641:p.Leu572fs					ZNF780B_ENST00000221355.6_Frame_Shift_Del_p.L424fs	p.L572fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1779	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		572					B9EH00	Frame_Shift_Del	DEL	ENST00000434248.1	37	c.1714delC	CCDS46077.1																																																																																				0.383	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		10	94						10	94	---	---	---	---
