#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
PROKR1	10887	broad.mit.edu	37	2	68873329	68873329	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:68873329C>T	ENST00000303786.3	+	2	796	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	126					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGTGGTGCGCCAGCTCTC	0.592																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(376-378)Cgc>Tgc		prokineticin receptor 1							159.0	141.0	147.0					2																	68873329		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873329C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.376C>T	2.37:g.68873329C>T	ENSP00000303775:p.Arg126Cys					PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C	p.R126C			Q8TCW9	PKR1_HUMAN			2	796	+			126					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.376C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926134	0.73327	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38077	1.16;1.16	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.104529	0.64402	D	0.000002	T	0.51398	0.1672	L	0.56199	1.76	0.52501	D	0.999953	D	0.76494	0.999	D	0.67900	0.954	T	0.46978	-0.9152	10	0.56958	D	0.05	.	11.5339	0.50626	0.1784:0.8216:0.0:0.0	.	126	Q8TCW9	PKR1_HUMAN	C	126	ENSP00000303775:R126C;ENSP00000377874:R126C	ENSP00000303775:R126C	R	+	1	0	PROKR1	68726833	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.316000	0.51960	2.890000	0.99128	0.650000	0.86243	CGC		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			21	272	0	0	0	1	0	21	272				
OR4P4	81300	broad.mit.edu	37	11	55406642	55406642	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:55406642C>T	ENST00000314612.2	+	1	809	c.809C>T	c.(808-810)gCc>gTc	p.A270V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAGTGTTTGCCCTTTTTTAT	0.403																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(808-810)gCc>gTc		olfactory receptor, family 4, subfamily P, member 4							177.0	146.0	157.0					11																	55406642		2180	4030	6210	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406642C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.809C>T	11.37:g.55406642C>T	ENSP00000324831:p.Ala270Val						p.A270V	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	809	+			270						Missense_Mutation	SNP	ENST00000314612.2	37	c.809C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886855	0.33348	.	.	ENSG00000181927	ENST00000314612	T	0.00202	8.56	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001002	T	0.00468	0.0015	M	0.87269	2.87	0.09310	N	1	P	0.35944	0.529	P	0.44696	0.458	T	0.28038	-1.0056	10	0.72032	D	0.01	-8.8415	16.9274	0.86180	0.0:1.0:0.0:0.0	.	270	Q8NGL7	OR4P4_HUMAN	V	270	ENSP00000324831:A270V	ENSP00000324831:A270V	A	+	2	0	OR4P4	55163218	0.000000	0.05858	0.660000	0.29694	0.091000	0.18340	1.227000	0.32576	2.575000	0.86900	0.637000	0.83480	GCC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		18	228	0	0	0	1	0	18	228				
MFHAS1	9258	broad.mit.edu	37	8	8750064	8750064	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:8750064G>A	ENST00000276282.6	-	1	1091	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	169										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGCGCCAGCCGGTTAAAGCTG	0.677																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(505-507)Cgg>Tgg		malignant fibrous histiocytoma amplified sequence 1							22.0	30.0	27.0					8																	8750064		2196	4293	6489	SO:0001583	missense	9258							g.chr8:8750064G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.505C>T	8.37:g.8750064G>A	ENSP00000276282:p.Arg169Trp						p.R169W	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1091	-		Hepatocellular(245;0.217)	169					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.505C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296195	0.23650	.	.	ENSG00000147324	ENST00000276282	T	0.32023	1.47	5.29	4.32	0.51571	.	0.358670	0.26460	N	0.024252	T	0.47563	0.1452	M	0.72624	2.21	0.33595	D	0.601619	D	0.69078	0.997	P	0.54815	0.761	T	0.64635	-0.6361	10	0.62326	D	0.03	.	15.7361	0.77846	0.0:0.0:0.8542:0.1458	.	169	Q9Y4C4	MFHA1_HUMAN	W	169	ENSP00000276282:R169W	ENSP00000276282:R169W	R	-	1	2	MFHAS1	8787474	0.989000	0.36119	1.000000	0.80357	0.205000	0.24178	1.578000	0.36525	2.456000	0.83038	0.563000	0.77884	CGG		0.677	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		6	24	0	0	0	1	0	6	24				
ZNF716	441234	broad.mit.edu	37	7	57528833	57528833	+	Silent	SNP	T	T	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr7:57528833T>C	ENST00000420713.1	+	4	778	c.666T>C	c.(664-666)ttT>ttC	p.F222F		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCAAATCCTTTAACTGCTCTT	0.398																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(664-666)ttT>ttC		zinc finger protein 716							45.0	40.0	41.0					7																	57528833		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57528833T>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.666T>C	7.37:g.57528833T>C							p.F222F	NM_001159279.1	NP_001152751.1					4	778	+									Silent	SNP	ENST00000420713.1	37	c.666T>C	CCDS55112.1																																																																																				0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	38	0	0	0	1	0	8	38				
PARVG	64098	broad.mit.edu	37	22	44583736	44583736	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:44583736G>A	ENST00000444313.3	+	5	709	c.225G>A	c.(223-225)ggG>ggA	p.G75G	PARVG_ENST00000422871.1_Silent_p.G75G|PARVG_ENST00000415224.1_Silent_p.G75G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	75	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGTTCGACGGGCTCATCCTAC	0.627																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(223-225)ggG>ggA		parvin, gamma							170.0	125.0	141.0					22																	44583736		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44583736G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.225G>A	22.37:g.44583736G>A						PARVG_ENST00000444313.2_Silent_p.G75G|PARVG_ENST00000415224.1_Silent_p.G75G	p.G75G	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			5	649	+		Ovarian(80;0.024)|all_neural(38;0.0299)	75			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.225G>A	CCDS14057.1																																																																																				0.627	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		8	102	0	0	0	1	0	8	102				
JAG2	3714	broad.mit.edu	37	14	105609285	105609285	+	Missense_Mutation	SNP	G	G	A	rs587770280	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:105609285G>A	ENST00000331782.3	-	26	3867	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1155					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		cggcggcggcgTGAAGTTCTT	0.721													G|||	7	0.00139776	0.0	0.0	5008	,	,		9918	0.0		0.001	False		,,,				2504	0.0061					ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3463-3465)aCg>aTg		jagged 2							14.0	16.0	15.0					14																	105609285		2175	4254	6429	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609285G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3464C>T	14.37:g.105609285G>A	ENSP00000328169:p.Thr1155Met					JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	p.T1155M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3867	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1155					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3464C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977285	0.34848	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86297	-2.1;-2.1	4.61	3.58	0.41010	.	0.388897	0.28606	N	0.014742	T	0.74997	0.3790	L	0.28274	0.84	0.29893	N	0.825037	B;B	0.15719	0.014;0.01	B;B	0.11329	0.006;0.003	T	0.65001	-0.6274	10	0.42905	T	0.14	.	3.3903	0.07286	0.3951:0.0:0.6049:0.0	.	1117;1155	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	M	1155;1117	ENSP00000328169:T1155M;ENSP00000328566:T1117M	ENSP00000328169:T1155M	T	-	2	0	JAG2	104680330	0.950000	0.32346	0.978000	0.43139	0.484000	0.33280	1.878000	0.39608	2.111000	0.64477	0.491000	0.48974	ACG		0.721	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			35	39	0	0	0	1	0	35	39				
CACNG3	10368	broad.mit.edu	37	16	24372900	24372900	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:24372900G>T	ENST00000005284.3	+	4	1866	c.664G>T	c.(664-666)Gcc>Tcc	p.A222S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	222					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCTACTTTTGCCCGCCTCCC	0.532																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(664-666)Gcc>Tcc		calcium channel, voltage-dependent, gamma subunit 3							95.0	90.0	91.0					16																	24372900		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372900G>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.664G>T	16.37:g.24372900G>T	ENSP00000005284:p.Ala222Ser						p.A222S	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1866	+			222						Missense_Mutation	SNP	ENST00000005284.3	37	c.664G>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	8.291	0.817786	0.16607	.	.	ENSG00000006116	ENST00000005284	T	0.55052	0.54	4.96	4.0	0.46444	.	0.277274	0.41294	D	0.000913	T	0.21674	0.0522	N	0.03071	-0.42	0.27645	N	0.947592	B	0.06786	0.001	B	0.04013	0.001	T	0.18023	-1.0350	10	0.10377	T	0.69	-12.7289	5.6852	0.17799	0.1665:0.0:0.675:0.1585	.	222	O60359	CCG3_HUMAN	S	222	ENSP00000005284:A222S	ENSP00000005284:A222S	A	+	1	0	CACNG3	24280401	0.286000	0.24305	0.740000	0.30986	0.985000	0.73830	1.263000	0.33004	1.068000	0.40764	0.655000	0.94253	GCC		0.532	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		5	173	1	0	0.000602214	1	0.000618273	5	173				
SEL1L3	23231	broad.mit.edu	37	4	25849364	25849364	+	Silent	SNP	G	G	A	rs371579636		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:25849364G>A	ENST00000399878.3	-	2	407	c.285C>T	c.(283-285)aaC>aaT	p.N95N	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N|SEL1L3_ENST00000502949.1_De_novo_Start_OutOfFrame	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	95						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTCAGAAACGTTGCGAACGT	0.433																																						ENST00000502949.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14								sel-1 suppressor of lin-12-like 3 (C. elegans)		G		0,3702		0,0,1851	92.0	84.0	86.0		285	-3.4	0.3	4		86	1,8223		0,1,4111	no	coding-synonymous	SEL1L3	NM_015187.3		0,1,5962	AA,AG,GG		0.0122,0.0,0.0084		95/1133	25849364	1,11925	1851	4112	5963	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25849364G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.285C>T	4.37:g.25849364G>A						SEL1L3_ENST00000399878.3_Silent_p.N95N|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N				Q68CR1	SE1L3_HUMAN			0	226	-								A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Translation_Start_Site	SNP	ENST00000399878.3	37		CCDS47037.1																																																																																				0.433	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		6	169	0	0	0	1	0	6	169				
MICB	4277	broad.mit.edu	37	6	31474146	31474146	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:31474146G>A	ENST00000252229.6	+	3	631	c.552G>A	c.(550-552)caG>caA	p.Q184Q	MICB_ENST00000538442.1_Silent_p.Q152Q|MICB_ENST00000399150.3_Silent_p.Q141Q	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCGCTATGCAGGCAGACTGCC	0.542																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(550-552)caG>caA		MHC class I polypeptide-related sequence B							73.0	74.0	73.0					6																	31474146		1957	4147	6104	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474146G>A		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.552G>A	6.37:g.31474146G>A						MICB_ENST00000538442.1_Silent_p.Q152Q|MICB_ENST00000399150.3_Silent_p.Q141Q	p.Q184Q	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			3	631	+			184						Silent	SNP	ENST00000252229.6	37	c.552G>A	CCDS43449.1																																																																																				0.542	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		46	59	0	0	0	1	0	46	59				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	196	0	0	0	1	0	5	196				
DPPA5	340168	broad.mit.edu	37	6	74063933	74063933	+	Missense_Mutation	SNP	C	C	T	rs552630054		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:74063933C>T	ENST00000370370.3	-	1	85	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	6					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TGTCTACGTGCCGGGAGAGTT	0.577																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(16-18)Gca>Aca		developmental pluripotency associated 5							60.0	52.0	55.0					6																	74063933		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063933C>T		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.16G>A	6.37:g.74063933C>T	ENSP00000359396:p.Ala6Thr						p.A6T	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			1	85	-			6					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.16G>A	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	0.862	-0.734811	0.03111	.	.	ENSG00000203909	ENST00000370370	T	0.25912	1.77	3.6	-7.2	0.01495	.	2.226600	0.01754	N	0.030095	T	0.01695	0.0054	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22977	-1.0201	10	0.14656	T	0.56	.	1.8844	0.03235	0.1233:0.1725:0.2449:0.4594	.	6	A6NC42	DPPA5_HUMAN	T	6	ENSP00000359396:A6T	ENSP00000359396:A6T	A	-	1	0	DPPA5	74120654	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.120000	0.03273	-1.760000	0.01312	-0.350000	0.07774	GCA		0.577	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		42	52	0	0	0	1	0	42	52				
TULP4	56995	broad.mit.edu	37	6	158900996	158900996	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:158900996C>T	ENST00000367097.3	+	7	2597	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	TULP4_ENST00000367094.2_Missense_Mutation_p.P414S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	414	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCCTTCATCCCCACCATCAA	0.637																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1240-1242)Ccc>Tcc		tubby like protein 4							81.0	80.0	80.0					6																	158900996		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900996C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1240C>T	6.37:g.158900996C>T	ENSP00000356064:p.Pro414Ser					TULP4_ENST00000367094.2_Missense_Mutation_p.P414S	p.P414S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2597	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	414			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1240C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686171	0.68157	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61859	0.07;0.07	5.75	5.75	0.90469	Tumour necrosis factor-like (1);SOCS protein, C-terminal (1);	0.053414	0.85682	D	0.000000	T	0.32882	0.0844	L	0.32530	0.975	0.80722	D	1	P;P;P	0.43857	0.78;0.51;0.819	B;B;B	0.40602	0.265;0.273;0.334	T	0.31943	-0.9925	10	0.07175	T	0.84	-27.6073	19.9493	0.97193	0.0:1.0:0.0:0.0	.	414;414;414	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	S	414	ENSP00000356064:P414S;ENSP00000356061:P414S	ENSP00000356061:P414S	P	+	1	0	TULP4	158820984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.397000	0.59690	2.712000	0.92718	0.561000	0.74099	CCC		0.637	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		38	63	0	0	0	1	0	38	63				
CIR1	9541	broad.mit.edu	37	2	175216364	175216364	+	Missense_Mutation	SNP	C	C	T	rs554648916		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:175216364C>T	ENST00000342016.3	-	8	666	c.574G>A	c.(574-576)Gca>Aca	p.A192T	CIR1_ENST00000362053.5_Missense_Mutation_p.R201H	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	192					mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GGATCATTTGCGGTCAAGTTT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17760	0.0		0.0	False		,,,				2504	0.001					ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(574-576)Gca>Aca		corepressor interacting with RBPJ, 1							153.0	143.0	146.0					2																	175216364		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175216364C>T	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.574G>A	2.37:g.175216364C>T	ENSP00000339723:p.Ala192Thr					CIR1_ENST00000362053.5_Missense_Mutation_p.R201H	p.A192T	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			8	666	-			192					A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.574G>A	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566163	0.65651	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.18	4.3	0.51218	.	0.206543	0.42294	N	0.000737	T	0.44329	0.1288	L	0.36672	1.1	0.39621	D	0.970023	B;B	0.28850	0.225;0.047	B;B	0.23574	0.047;0.007	T	0.35325	-0.9793	9	0.14252	T	0.57	.	13.971	0.64240	0.0:0.9252:0.0:0.0748	.	192;192	A0PJI7;Q86X95	.;CIR1_HUMAN	T	192	.	ENSP00000339723:A192T	A	-	1	0	CIR1	174924610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.434000	0.52841	1.316000	0.45131	0.460000	0.39030	GCA		0.403	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		4	247	0	0	0	1	0	4	247				
ALS2	57679	broad.mit.edu	37	2	202626336	202626336	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:202626336G>A	ENST00000264276.6	-	4	753	c.381C>T	c.(379-381)aaC>aaT	p.N127N	ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	127					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATACTGCTGGTTGGCTACTG	0.527																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(379-381)aaC>aaT		amyotrophic lateral sclerosis 2 (juvenile)							96.0	93.0	94.0					2																	202626336		2084	4221	6305	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626336G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.381C>T	2.37:g.202626336G>A						ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR	p.N127N	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	753	-			127					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.381C>T	CCDS42800.1																																																																																				0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		59	88	0	0	0	1	0	59	88				
NIPBL	25836	broad.mit.edu	37	5	36976456	36976456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:36976456G>T	ENST00000282516.8	+	9	1946	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	483					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATAGAGAGAGAATCAGCTAT	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1447-1449)Gaa>Taa		Nipped-B homolog (Drosophila)							67.0	69.0	68.0					5																	36976456		2203	4299	6502	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976456G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1447G>T	5.37:g.36976456G>T	ENSP00000282516:p.Glu483*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*|NIPBL_ENST00000504430.1_3'UTR	p.E483*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1946	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		483					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.1447G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	41	8.994256	0.99029	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.9344	0.97131	0.0:0.0:1.0:0.0	.	.	.	.	X	483	.	ENSP00000282516:E483X	E	+	1	0	NIPBL	37012213	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.439000	0.97543	2.723000	0.93209	0.460000	0.39030	GAA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		17	165	1	0	1.33834e-09	1	1.39259e-09	17	165				
MRPS31	10240	broad.mit.edu	37	13	41303682	41303682	+	Silent	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr13:41303682C>T	ENST00000323563.6	-	7	1050	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	MIR320D1_ENST00000390157.2_RNA|MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	338						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GAAAGCTCTCCAGGTGTTTCT	0.363																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1012-1014)ctG>ctA		mitochondrial ribosomal protein S31							51.0	51.0	51.0					13																	41303682		2203	4300	6503	SO:0001819	synonymous_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41303682C>T	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.1014G>A	13.37:g.41303682C>T						MRPS31_ENST00000498078.1_5'UTR	p.L338L	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	7	1050	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	338					B2RCS3|Q5VYC8|Q8WTV8	Silent	SNP	ENST00000323563.6	37	c.1014G>A	CCDS9372.1																																																																																				0.363	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			19	112	0	0	0	1	0	19	112				
ANKH	56172	broad.mit.edu	37	5	14749298	14749298	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:14749298T>A	ENST00000284268.6	-	6	1135	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	ANKH_ENST00000535119.1_Missense_Mutation_p.S71C|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	269					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTGCAGAACTGCCACCAAGG	0.542																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(805-807)Agt>Tgt		ANKH inorganic pyrophosphate transport regulator							73.0	77.0	75.0					5																	14749298		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14749298T>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.805A>T	5.37:g.14749298T>A	ENSP00000284268:p.Ser269Cys					ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.S71C	p.S269C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			6	1135	-			269					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.805A>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714353	0.89112	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95918	-3.85;-3.85	5.91	5.91	0.95273	.	0.037145	0.85682	D	0.000000	D	0.96059	0.8716	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.57548	0.823	D	0.96402	0.9297	10	0.72032	D	0.01	-39.1601	15.5295	0.75942	0.0:0.0:0.0:1.0	.	269	Q9HCJ1	ANKH_HUMAN	C	71;269	ENSP00000442524:S71C;ENSP00000284268:S269C	ENSP00000284268:S269C	S	-	1	0	ANKH	14802298	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.079000	0.64431	2.254000	0.74563	0.533000	0.62120	AGT		0.542	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		4	145	0	0	0	1	0	4	145				
RGS4	5999	broad.mit.edu	37	1	163044271	163044271	+	Missense_Mutation	SNP	C	C	T	rs368964432		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:163044271C>T	ENST00000367909.6	+	5	879	c.539C>T	c.(538-540)cCg>cTg	p.P180L	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L|RGS4_ENST00000421743.2_Missense_Mutation_p.P277L	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	180					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.P180Q(1)|p.P277Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGTCAACCCGTCCAGCTGT	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19413	0.0		0.0	False		,,,				2504	0.0				Ovarian(76;1257 1738 3039 6086)	ENST00000421743.2																			2	Substitution - Missense(2)	p.P180Q(1)|p.P277Q(1)	kidney(2)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(829-831)cCg>cTg		regulator of G-protein signaling 4		C	LEU/PRO,LEU/PRO,,LEU/PRO	0,4406		0,0,2203	171.0	185.0	181.0		830,485,,539	1.9	0.2	1		181	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	RGS4	NM_001102445.2,NM_001113380.1,NM_001113381.1,NM_005613.5	98,98,,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,benign	277/303,162/188,,180/206	163044271	1,13005	2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044271C>T	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.539C>T	1.37:g.163044271C>T	ENSP00000356885:p.Pro180Leu					RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L|RGS4_ENST00000367909.6_Missense_Mutation_p.P180L|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L	p.P277L	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN			6	990	+			180					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.830C>T	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868439	0.17322	0.0	1.16E-4	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	T;T;T;T	0.50813	0.73;0.79;0.79;0.79	5.11	1.94	0.25998	.	0.988904	0.08247	N	0.975208	T	0.10252	0.0251	N	0.12887	0.27	0.36683	D	0.879172	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.20940	-1.0260	9	0.31617	T	0.26	.	3.8464	0.08936	0.3305:0.4828:0.0:0.1867	.	180;277	P49798;A7XA59	RGS4_HUMAN;.	L	277;180;162;162	ENSP00000397181:P277L;ENSP00000356885:P180L;ENSP00000433261:P162L;ENSP00000356882:P162L	ENSP00000356882:P162L	P	+	2	0	RGS4	161310895	0.741000	0.28217	0.165000	0.22776	0.547000	0.35210	1.281000	0.33214	0.656000	0.30886	0.655000	0.94253	CCG		0.517	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		41	318	0	0	0	1	0	41	318				
CCDC8	83987	broad.mit.edu	37	19	46915066	46915066	+	Silent	SNP	A	A	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:46915066A>G	ENST00000307522.3	-	1	1775	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	334					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGATTATCTGCAG	0.597																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1000-1002)aaT>aaC		coiled-coil domain containing 8							94.0	100.0	98.0					19																	46915066		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915066A>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1002T>C	19.37:g.46915066A>G							p.N334N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1775	-			334					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1002T>C	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	A	5.110	0.205958	0.09704	.	.	ENSG00000169515	ENST00000540252	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.21147	N	0.999776	.	.	.	.	.	.	T	0.28004	-1.0057	5	0.22706	T	0.39	-0.1737	6.133	0.20215	0.5746:0.0:0.2521:0.1734	.	.	.	.	T	181	.	ENSP00000441180:I181T	I	-	2	0	CCDC8	51606906	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.996000	0.01471	-1.077000	0.03121	-2.151000	0.00333	ATC		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		5	242	0	0	0	1	0	5	242				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	68	0	0	0	1	0	9	68				
GIF	2694	broad.mit.edu	37	11	59603468	59603468	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:59603468G>A	ENST00000257248.2	-	7	933	c.886C>T	c.(886-888)Cca>Tca	p.P296S	GIF_ENST00000541311.1_Missense_Mutation_p.P271S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	296					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GGTAGAGTTGGTTGTACCTCA	0.478																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(811-813)Cca>Tca		gastric intrinsic factor (vitamin B synthesis)							131.0	135.0	134.0					11																	59603468		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59603468G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.886C>T	11.37:g.59603468G>A	ENSP00000257248:p.Pro296Ser					GIF_ENST00000257248.2_Missense_Mutation_p.P296S	p.P271S			P27352	IF_HUMAN			7	1045	-			296					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.811C>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	0.431	-0.903211	0.02453	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.38887	1.22;1.11	4.89	1.75	0.24633	.	0.407676	0.23347	N	0.049170	T	0.19604	0.0471	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.24764	-1.0151	10	0.02654	T	1	-11.8286	3.4523	0.07503	0.095:0.1682:0.5634:0.1734	.	296	P27352	IF_HUMAN	S	296;271	ENSP00000257248:P296S;ENSP00000440427:P271S	ENSP00000257248:P296S	P	-	1	0	GIF	59360044	0.903000	0.30736	0.214000	0.23707	0.140000	0.21249	1.182000	0.32029	0.614000	0.30107	0.655000	0.94253	CCA		0.478	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		6	253	0	0	0	1	0	6	253				
TRIM42	287015	broad.mit.edu	37	3	140406741	140406741	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:140406741A>G	ENST00000286349.3	+	3	1408	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	406						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGTCCAGGCAGAAGGAAATT	0.443																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1216-1218)cAg>cGg		tripartite motif containing 42							101.0	98.0	99.0					3																	140406741		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406741A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1217A>G	3.37:g.140406741A>G	ENSP00000286349:p.Gln406Arg						p.Q406R	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1408	+			406					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1217A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603800	0.28534	.	.	ENSG00000155890	ENST00000286349	T	0.38887	1.11	5.33	2.8	0.32819	.	0.101355	0.44097	D	0.000488	T	0.23572	0.0570	N	0.19112	0.55	0.26237	N	0.978925	B	0.10296	0.003	B	0.10450	0.005	T	0.11155	-1.0599	10	0.49607	T	0.09	-9.6276	4.301	0.10925	0.7314:0.0:0.0937:0.1749	.	406	Q8IWZ5	TRI42_HUMAN	R	406	ENSP00000286349:Q406R	ENSP00000286349:Q406R	Q	+	2	0	TRIM42	141889431	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.094000	0.50227	0.989000	0.38761	0.454000	0.30748	CAG		0.443	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		4	135	0	0	0	1	0	4	135				
OTX1	5013	broad.mit.edu	37	2	63283169	63283169	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:63283169G>A	ENST00000282549.2	+	5	1059	c.783G>A	c.(781-783)ccG>ccA	p.P261P	OTX1_ENST00000366671.3_Silent_p.P261P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	261					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ATCACCACCCGCACCAGCTCA	0.652																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(781-783)ccG>ccA		orthodenticle homeobox 1							135.0	120.0	125.0					2																	63283169		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283169G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.783G>A	2.37:g.63283169G>A						OTX1_ENST00000366671.3_Silent_p.P261P	p.P261P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1059	+	Lung NSC(7;0.121)|all_lung(7;0.211)		261					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.783G>A	CCDS1873.1																																																																																				0.652	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			4	249	0	0	0	1	0	4	249				
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1																			1	Substitution - Missense(1)	p.R886W(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141.0	114.0	123.0					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W	p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			21	2845	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		886			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		4	152	0	0	0	1	0	4	152				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			3	62	0	0	0	1	0	3	62				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			4	130	0	0	0	1	0	4	130				
TBC1D10A	83874	broad.mit.edu	37	22	30688804	30688804	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:30688804G>C	ENST00000215790.7	-	9	1251	c.1087C>G	c.(1087-1089)Cgc>Ggc	p.R363G	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.R363S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTGTTCGCGCTCAATCTGG	0.637																																						ENST00000215790.7																			1	Substitution - Missense(1)	p.R363S(1)	lung(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1087-1089)Cgc>Ggc		TBC1 domain family, member 10A							33.0	33.0	33.0					22																	30688804		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688804G>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1087C>G	22.37:g.30688804G>C	ENSP00000215790:p.Arg363Gly					RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G	p.R363G	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1251	-			363					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1087C>G	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407523	0.62399	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	T;T;T;T	0.08896	3.04;3.32;3.32;3.34	4.85	4.85	0.62838	.	0.108688	0.56097	D	0.000033	T	0.18759	0.0450	M	0.67397	2.05	0.45962	D	0.998789	P;P;P;P	0.48162	0.906;0.906;0.906;0.903	P;P;P;P	0.52343	0.621;0.52;0.621;0.696	T	0.00063	-1.2153	10	0.49607	T	0.09	.	12.937	0.58320	0.0:0.0:0.8373:0.1627	.	363;370;363;363	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	G	237;363;370;275	ENSP00000401535:R237G;ENSP00000215790:R363G;ENSP00000384996:R370G;ENSP00000385050:R275G	ENSP00000331267:R224G	R	-	1	0	TBC1D10A;RP1-130H16.18	29018804	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.760000	0.55235	2.700000	0.92200	0.462000	0.41574	CGC		0.637	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		37	55	0	0	0	1	0	37	55				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			71	111	0	0	0	1	0	71	111				
KBTBD4	55709	broad.mit.edu	37	11	47597155	47597155	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:47597155G>A	ENST00000526005.1	-	3	839	c.686C>T	c.(685-687)aCa>aTa	p.T229I	KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.T254I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	229	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTCAAGCTTGTCCTGAGTGA	0.403																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(760-762)aCa>aTa		kelch repeat and BTB (POZ) domain containing 4							152.0	145.0	148.0					11																	47597155		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47597155G>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.686C>T	11.37:g.47597155G>A	ENSP00000433340:p.Thr229Ile					NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|KBTBD4_ENST00000526005.1_Missense_Mutation_p.T229I|KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I	p.T254I			Q9NVX7	KBTB4_HUMAN			2	1475	-			229	A -> G (in Ref. 1; BAA91616).				D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.761C>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367107	0.41902	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720	T;T;T;T;T	0.72615	-0.6;-0.67;-0.6;-0.67;-0.39	5.41	3.51	0.40186	BTB/Kelch-associated (1);	0.345835	0.33916	N	0.004436	T	0.60051	0.2239	L	0.29908	0.895	0.30749	N	0.745365	B;B;B	0.22909	0.062;0.022;0.077	B;B;B	0.19946	0.016;0.016;0.027	T	0.58059	-0.7703	10	0.40728	T	0.16	-10.3484	16.1262	0.81397	0.0:0.2528:0.7472:0.0	.	245;229;254	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	I	229;254;229;238;245;278	ENSP00000433340:T229I;ENSP00000436713:T254I;ENSP00000378703:T229I;ENSP00000415106:T245I;ENSP00000434477:T278I	ENSP00000352971:T238I	T	-	2	0	KBTBD4	47553731	0.997000	0.39634	0.938000	0.37757	0.996000	0.88848	3.958000	0.56737	0.748000	0.32831	0.650000	0.86243	ACA		0.403	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		5	145	0	0	0	1	0	5	145				
GLRX	2745	broad.mit.edu	37	5	95158225	95158225	+	Missense_Mutation	SNP	T	T	C	rs150319338		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:95158225T>C	ENST00000379979.4	-	1	193	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000505427.1_Missense_Mutation_p.I48V|GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V|GLRX_ENST00000507605.1_5'Flank	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	48	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	GTGGCTGTGATATCGACAAAT	0.498													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17171	0.0		0.0	False		,,,				2504	0.0					ENST00000379979.4																			0				endometrium(3)|large_intestine(1)|lung(1)	5						c.(142-144)Atc>Gtc		glutaredoxin (thioltransferase)	Glutathione(DB00143)	T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	192.0	171.0	178.0		142,142	4.0	1.0	5	dbSNP_134	178	0,8600		0,0,4300	no	missense,missense	GLRX	NM_001118890.1,NM_002064.2	29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	48/107,48/107	95158225	1,13005	2203	4300	6503	SO:0001583	missense	2745				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding	g.chr5:95158225T>C		CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.142A>G	5.37:g.95158225T>C	ENSP00000369314:p.Ile48Val					GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V|GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000505427.1_Missense_Mutation_p.I48V	p.I48V	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN		all cancers(79;2.62e-16)	1	193	-		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	48			Glutaredoxin.		B2R4L2|Q3KQS1|Q6ICT1	Missense_Mutation	SNP	ENST00000379979.4	37	c.142A>G	CCDS4078.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971200	0.74246	2.27E-4	0.0	ENSG00000173221	ENST00000508780;ENST00000237858;ENST00000379979;ENST00000505427;ENST00000512469	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.15	3.97	0.46021	Glutaredoxin (2);Glutaredoxin, eukaryotic/virial (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.59912	1.85	0.58432	D	0.999998	B	0.06786	0.001	B	0.17979	0.02	T	0.06661	-1.0814	10	0.66056	D	0.02	-24.8902	7.8397	0.29391	0.0:0.0935:0.0:0.9065	.	48	P35754	GLRX1_HUMAN	V	48	ENSP00000422708:I48V;ENSP00000237858:I48V;ENSP00000369314:I48V;ENSP00000427353:I48V;ENSP00000424636:I48V	ENSP00000237858:I48V	I	-	1	0	GLRX	95183981	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.720000	0.47252	0.957000	0.37930	0.482000	0.46254	ATC		0.498	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370267.1	NM_002064		6	301	0	0	0	1	0	6	301				
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137.0	136.0	136.0					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	458	0	0	0	1	0	5	458				
ZFP64	55734	broad.mit.edu	37	20	50769656	50769656	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:50769656G>A	ENST00000216923.4	-	6	1424	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	359					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)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGTGGATGCGCAGGGCGGCC	0.597																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1075-1077)Cgc>Tgc		ZFP64 zinc finger protein							112.0	103.0	106.0					20																	50769656		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769656G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1075C>T	20.37:g.50769656G>A	ENSP00000216923:p.Arg359Cys					ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C	p.R359C	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1424	-			359					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1075C>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850628	0.51270	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.08896	3.04;3.07;3.04	5.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120446	0.34245	N	0.004129	T	0.27559	0.0677	M	0.85197	2.74	0.39996	D	0.975108	D;D;D	0.89917	1.0;0.997;0.998	P;P;P	0.62184	0.899;0.642;0.714	T	0.01436	-1.1355	10	0.54805	T	0.06	-36.4935	11.4592	0.50199	0.0:0.0:0.6103:0.3897	.	305;357;359	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	C	359;305;357;201;512	ENSP00000216923:R359C;ENSP00000344615:R305C;ENSP00000360570:R357C	ENSP00000216923:R359C	R	-	1	0	ZFP64	50203063	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	3.978000	0.56881	2.740000	0.93945	0.609000	0.83330	CGC		0.597	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		4	215	0	0	0	1	0	4	215				
GABBR2	9568	broad.mit.edu	37	9	101068571	101068571	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:101068571G>A	ENST00000259455.2	-	15	2520	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	687					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACTTGCTGTCGTTGAGTGCGG	0.547																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(2059-2061)aaC>aaT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						129.0	86.0	101.0					9																	101068571		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101068571G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2061C>T	9.37:g.101068571G>A							p.N687N	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			15	2520	-		Acute lymphoblastic leukemia(62;0.0527)	687					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.2061C>T	CCDS6736.1																																																																																				0.547	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			24	38	0	0	0	1	0	24	38				
MDGA2	161357	broad.mit.edu	37	14	47315042	47315042	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:47315042T>C	ENST00000399232.2	-	16	3073	c.2709A>G	c.(2707-2709)atA>atG	p.I903M	MDGA2_ENST00000439988.3_Missense_Mutation_p.I972M|MDGA2_ENST00000426342.1_Missense_Mutation_p.I674M|MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	903	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCACCTTCTATTCCAGGAC	0.363																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(2020-2022)atA>atG		MAM domain containing glycosylphosphatidylinositol anchor 2							114.0	109.0	111.0					14																	47315042		1888	4114	6002	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47315042T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2709A>G	14.37:g.47315042T>C	ENSP00000382178:p.Ile903Met					MDGA2_ENST00000439988.2_Missense_Mutation_p.I903M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M|MDGA2_ENST00000399232.2_Missense_Mutation_p.I972M|MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M	p.I674M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			16	2768	-			903					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2022A>G		.	.	.	.	.	.	.	.	.	.	T	16.20	3.055298	0.55325	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46	5.17	3.99	0.46301	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.56097	U	0.000031	T	0.08179	0.0204	M	0.61703	1.905	0.49798	D	0.999823	D	0.65815	0.995	D	0.72982	0.979	T	0.04307	-1.0961	10	0.59425	D	0.04	.	6.4762	0.22037	0.1464:0.0:0.3033:0.5503	.	903	Q7Z553	MDGA2_HUMAN	M	903;674;972;105;674	ENSP00000400011:I903M;ENSP00000405456:I674M;ENSP00000382178:I972M;ENSP00000382168:I105M;ENSP00000349925:I674M	ENSP00000349925:I674M	I	-	3	3	MDGA2	46384792	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	0.016000	0.13377	0.877000	0.35895	0.260000	0.18958	ATA		0.363	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		19	150	0	0	0	1	0	19	150				
KLHDC7B	113730	broad.mit.edu	37	22	50988099	50988099	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:50988099C>T	ENST00000395676.2	+	1	1638	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	502										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGACCTGCTGCGGGGCGTGGG	0.697																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1504-1506)Cgg>Tgg		kelch domain containing 7B							36.0	41.0	40.0					22																	50988099		2201	4288	6489	SO:0001583	missense	113730							g.chr22:50988099C>T	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1504C>T	22.37:g.50988099C>T	ENSP00000379034:p.Arg502Trp						p.R502W	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1638	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	502						Missense_Mutation	SNP	ENST00000395676.2	37	c.1504C>T	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648450	0.67358	.	.	ENSG00000130487	ENST00000395676	T	0.18502	2.21	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.39615	U	0.001302	T	0.41926	0.1180	M	0.72894	2.215	0.47476	D	0.999432	D	0.89917	1.0	D	0.71414	0.973	T	0.27571	-1.0070	10	0.72032	D	0.01	.	16.5472	0.84450	0.0:1.0:0.0:0.0	.	502	Q96G42	KLD7B_HUMAN	W	502	ENSP00000379034:R502W	ENSP00000379034:R502W	R	+	1	2	KLHDC7B	49334965	0.998000	0.40836	0.998000	0.56505	0.069000	0.16628	0.590000	0.23954	2.528000	0.85240	0.491000	0.48974	CGG		0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		14	151	0	0	0	1	0	14	151				
HERC2	8924	broad.mit.edu	37	15	28375699	28375699	+	Silent	SNP	G	G	A	rs61756151	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12610-12612)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	185.0	196.0	192.0		12612	-1.0	1.0	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375699G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12612C>T	15.37:g.28375699G>A							p.C4204C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	82	12720	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4204						Silent	SNP	ENST00000261609.7	37	c.12612C>T	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	492	0	0	0	1	0	6	492				
NHLRC2	374354	broad.mit.edu	37	10	115639379	115639379	+	Silent	SNP	T	T	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:115639379T>C	ENST00000369301.3	+	4	1046	c.834T>C	c.(832-834)ttT>ttC	p.F278F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	278										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATCAACTTTTAATTCTCCAC	0.308																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(832-834)ttT>ttC		NHL repeat containing 2							35.0	37.0	37.0					10																	115639379		2202	4287	6489	SO:0001819	synonymous_variant	374354				cell redox homeostasis			g.chr10:115639379T>C	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.834T>C	10.37:g.115639379T>C							p.F278F	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	4	1046	+			278					Q8N1H1|Q8N5A6	Silent	SNP	ENST00000369301.3	37	c.834T>C	CCDS7585.1																																																																																				0.308	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		14	207	0	0	0	1	0	14	207				
SHROOM3	57619	broad.mit.edu	37	4	77692035	77692035	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:77692035C>T	ENST00000296043.6	+	10	6559	c.5606C>T	c.(5605-5607)gCc>gTc	p.A1869V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1869	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTGAAGATGCCAGTAATGAA	0.517																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5605-5607)gCc>gTc		shroom family member 3							107.0	105.0	106.0					4																	77692035		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77692035C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5606C>T	4.37:g.77692035C>T	ENSP00000296043:p.Ala1869Val					RP11-359D14.3_ENST00000449007.1_RNA	p.A1869V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6559	+			1869			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5606C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266967	0.59540	.	.	ENSG00000138771	ENST00000296043	T	0.34275	1.37	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.60560	0.2278	M	0.64170	1.965	0.49213	D	0.999764	D	0.89917	1.0	D	0.83275	0.996	T	0.60647	-0.7222	10	0.87932	D	0	-20.8104	19.6592	0.95857	0.0:1.0:0.0:0.0	.	1869	Q8TF72	SHRM3_HUMAN	V	1869	ENSP00000296043:A1869V	ENSP00000296043:A1869V	A	+	2	0	SHROOM3	77911059	0.996000	0.38824	1.000000	0.80357	0.087000	0.18053	3.049000	0.49869	2.879000	0.98667	0.650000	0.86243	GCC		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	221	0	0	0	1	0	4	221				
C11orf84	144097	broad.mit.edu	37	11	63586445	63586445	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:63586445G>A	ENST00000294244.4	+	5	1204	c.905G>A	c.(904-906)gGc>gAc	p.G302D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	302										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GCAGAAGGAGGCCTTCCCCGG	0.662																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(904-906)gGc>gAc		chromosome 11 open reading frame 84							38.0	41.0	40.0					11																	63586445		2200	4298	6498	SO:0001583	missense	144097							g.chr11:63586445G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.905G>A	11.37:g.63586445G>A	ENSP00000294244:p.Gly302Asp						p.G302D	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			5	1204	+			302					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.905G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944729	0.18356	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.45276	0.9	4.67	-2.16	0.07080	.	1.312890	0.05175	N	0.500283	T	0.30696	0.0773	L	0.41236	1.265	0.09310	N	1	B	0.27229	0.172	B	0.28849	0.095	T	0.35400	-0.9790	10	0.87932	D	0	-7.0282	0.9865	0.01447	0.1707:0.2753:0.2721:0.2819	.	302	Q9BUA3	CK084_HUMAN	D	302;77	ENSP00000294244:G302D	ENSP00000294244:G302D	G	+	2	0	C11orf84	63343021	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.075000	0.14686	-0.381000	0.07882	-1.303000	0.01326	GGC		0.662	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		4	111	0	0	0	1	0	4	111				
CHD6	84181	broad.mit.edu	37	20	40049627	40049627	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:40049627C>G	ENST00000373233.3	-	31	5825	c.5648G>C	c.(5647-5649)gGc>gCc	p.G1883A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1883					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCCCCATGCCTACTGCCAT	0.453																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5647-5649)gGc>gCc		chromodomain helicase DNA binding protein 6							121.0	123.0	122.0					20																	40049627		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049627C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5648G>C	20.37:g.40049627C>G	ENSP00000362330:p.Gly1883Ala						p.G1883A	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5825	-		Myeloproliferative disorder(115;0.00425)	1883					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5648G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143817	0.06627	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.86	2.13	0.27403	.	0.696895	0.13607	N	0.375412	T	0.69450	0.3112	N	0.19112	0.55	0.09310	N	1	B	0.20368	0.044	B	0.13407	0.009	T	0.51593	-0.8686	10	0.08599	T	0.76	-2.4067	7.5723	0.27915	0.0:0.5971:0.0:0.4029	.	1883	Q8TD26	CHD6_HUMAN	A	1883	ENSP00000362330:G1883A	ENSP00000362330:G1883A	G	-	2	0	CHD6	39483041	0.679000	0.27596	0.010000	0.14722	0.300000	0.27592	1.105000	0.31086	0.703000	0.31848	0.655000	0.94253	GGC		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			21	156	0	0	0	1	0	21	156				
FGD5	152273	broad.mit.edu	37	3	14949183	14949183	+	Missense_Mutation	SNP	G	G	A	rs199676271		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:14949183G>A	ENST00000285046.5	+	10	3411	c.3301G>A	c.(3301-3303)Gtc>Atc	p.V1101I	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V860I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1101					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGCACAGCGTCCGGGGCCA	0.627																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3301-3303)Gtc>Atc		FYVE, RhoGEF and PH domain containing 5		G	ILE/VAL	0,3992		0,0,1996	49.0	55.0	53.0		3301	5.2	0.3	3		53	1,8317		0,1,4158	no	missense	FGD5	NM_152536.3	29	0,1,6154	AA,AG,GG		0.012,0.0,0.0081	benign	1101/1463	14949183	1,12309	1996	4159	6155	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14949183G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3301G>A	3.37:g.14949183G>A	ENSP00000285046:p.Val1101Ile					FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V860I	p.V1101I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			10	3411	+			1101					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3301G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437803	0.62955	0.0	1.2E-4	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.24350	1.86;1.86	5.24	5.24	0.73138	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000112	T	0.25082	0.0609	L	0.46157	1.445	0.46203	D	0.998922	P;P	0.43701	0.685;0.815	B;B	0.39706	0.114;0.307	T	0.02047	-1.1223	10	0.41790	T	0.15	-24.3794	14.3421	0.66633	0.0:0.0:1.0:0.0	.	860;1101	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	1101;860	ENSP00000285046:V1101I;ENSP00000445949:V860I	ENSP00000285046:V1101I	V	+	1	0	FGD5	14924187	1.000000	0.71417	0.346000	0.25655	0.951000	0.60555	3.794000	0.55492	2.443000	0.82685	0.591000	0.81541	GTC		0.627	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		18	98	0	0	0	1	0	18	98				
TSHZ3	57616	broad.mit.edu	37	19	31769127	31769127	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:31769127T>A	ENST00000240587.4	-	2	1899	c.1572A>T	c.(1570-1572)aaA>aaT	p.K524N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	524					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTCCAAGGATTTGAGGATAT	0.507																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1570-1572)aaA>aaT		teashirt zinc finger homeobox 3							141.0	144.0	143.0					19																	31769127		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769127T>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1572A>T	19.37:g.31769127T>A	ENSP00000240587:p.Lys524Asn						p.K524N	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1899	-	Esophageal squamous(110;0.226)		524					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1572A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960927	0.53400	.	.	ENSG00000121297	ENST00000240587	T	0.49720	0.77	5.4	-6.06	0.02165	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.73598	2.24	0.58432	D	0.999999	P	0.41313	0.745	B	0.37346	0.247	T	0.57323	-0.7831	10	0.87932	D	0	-22.0351	19.0963	0.93253	0.0:0.7527:0.0:0.2473	.	524	Q63HK5	TSH3_HUMAN	N	524	ENSP00000240587:K524N	ENSP00000240587:K524N	K	-	3	2	TSHZ3	36460967	0.982000	0.34865	0.184000	0.23157	0.849000	0.48306	0.260000	0.18424	-1.420000	0.02009	-0.912000	0.02778	AAA		0.507	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		75	153	0	0	0	1	0	75	153				
HNRNPKP3	399881	broad.mit.edu	37	11	43283724	43283724	+	RNA	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:43283724G>A	ENST00000511537.1	-	0	1211					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		CTGGTCCTATGTTCCTATAAT	0.388																																						ENST00000511537.1																			0																																																			0							g.chr11:43283724G>A			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283724G>A								NR_033868.1						0	1211	-									RNA	SNP	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		7	27	0	0	0	1	0	7	27				
IGHG2	3501	broad.mit.edu	37	14	106110437	106110437	+	RNA	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:106110437C>T	ENST00000390545.2	-	0	298							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										ACAACATTTGCGCTCTGCAGA	0.607																																						ENST00000390545.2																			0																				144.0	141.0	142.0					14																	106110437		2075	4211	6286			0							g.chr14:106110437C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110437C>T														0	298	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.607	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		4	352	0	0	0	1	0	4	352				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	144	0	0	0	1	0	4	144				
BMP6	654	broad.mit.edu	37	6	7845400	7845400	+	Missense_Mutation	SNP	G	G	A	rs566660170		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:7845400G>A	ENST00000283147.6	+	2	851	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	231					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.R231H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTCTCCCCTCGTCAGCGACAC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19565	0.0		0.0	False		,,,				2504	0.0					ENST00000283147.6																			1	Substitution - Missense(1)	p.R231H(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(691-693)cGt>cAt		bone morphogenetic protein 6							129.0	126.0	127.0					6																	7845400		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845400G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.692G>A	6.37:g.7845400G>A	ENSP00000283147:p.Arg231His						p.R231H	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	851	+	Ovarian(93;0.0721)		231					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.692G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197499	0.38806	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.66099	-0.19	5.41	2.67	0.31697	Transforming growth factor-beta, N-terminal (1);	0.253249	0.42294	N	0.000739	T	0.17662	0.0424	N	0.12961	0.28	0.25820	N	0.984296	B	0.13145	0.007	B	0.13407	0.009	T	0.15065	-1.0450	10	0.27082	T	0.32	.	4.5659	0.12186	0.3124:0.0:0.5362:0.1514	.	231	P22004	BMP6_HUMAN	H	153;231;194	ENSP00000283147:R231H	ENSP00000283147:R231H	R	+	2	0	BMP6	7790399	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.586000	0.46119	0.659000	0.30945	0.557000	0.71058	CGT		0.468	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		20	187	0	0	0	1	0	20	187				
PHF20	51230	broad.mit.edu	37	20	34487400	34487400	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:34487400G>A	ENST00000374012.3	+	10	1520	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	464					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAATTTTTCCGCAAAGCCAAA	0.428																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1390-1392)cGc>cAc		PHD finger protein 20							65.0	63.0	63.0					20																	34487400		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34487400G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1391G>A	20.37:g.34487400G>A	ENSP00000363124:p.Arg464His					PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR	p.R464H			Q9BVI0	PHF20_HUMAN			10	1520	+	Breast(12;0.00631)|all_lung(11;0.0145)		464					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1391G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366190	0.82463	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.65732	0.62;-0.17;-0.17	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.797	T	0.79117	-0.1935	10	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	464;464	Q9BVI0;Q66K49	PHF20_HUMAN;.	H	464	ENSP00000363124:R464H;ENSP00000341900:R464H;ENSP00000363112:R464H	ENSP00000341900:R464H	R	+	2	0	PHF20	33950814	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.229000	0.95273	2.818000	0.97014	0.591000	0.81541	CGC		0.428	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		4	120	0	0	0	1	0	4	120				
CPNE3	8895	broad.mit.edu	37	8	87568561	87568561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:87568561C>T	ENST00000521271.1	+	16	1648	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	496	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGACAGTTCCAGAATGTGAG	0.502																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1486-1488)Cag>Tag		copine III							141.0	111.0	121.0					8																	87568561		2203	4300	6503	SO:0001587	stop_gained	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87568561C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1486C>T	8.37:g.87568561C>T	ENSP00000430934:p.Gln496*					CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496*	p.Q496*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			16	1648	+			496			VWFA.		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	c.1486C>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	37	6.391204	0.97529	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	.	.	.	5.62	5.62	0.85841	.	0.289804	0.39475	N	0.001347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2622	15.1793	0.72941	0.0:0.8595:0.1405:0.0	.	.	.	.	X	496	.	ENSP00000198765:Q496X	Q	+	1	0	CPNE3	87637677	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.909000	0.56363	2.661000	0.90470	0.650000	0.86243	CAG		0.502	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			13	102	0	0	0	1	0	13	102				
LIN7C	55327	broad.mit.edu	37	11	27520303	27520303	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:27520303C>T	ENST00000278193.2	-	5	507	c.487G>A	c.(487-489)Gca>Aca	p.A163T	LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	163	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)			endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTTCCTTGTGCGGCTTTCAGC	0.388																																						ENST00000278193.2																			0				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(487-489)Gca>Aca		lin-7 homolog C (C. elegans)							211.0	192.0	199.0					11																	27520303		2202	4299	6501	SO:0001583	missense	55327				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		g.chr11:27520303C>T	AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"""LIN-7 protein 3"""	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.487G>A	11.37:g.27520303C>T	ENSP00000278193:p.Ala163Thr					LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T	p.A163T	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN			5	507	-			163			PDZ.			Missense_Mutation	SNP	ENST00000278193.2	37	c.487G>A	CCDS7864.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606293	0.87157	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.27557	1.66;1.66	6.16	6.16	0.99307	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.31207	0.915	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.85130	0.81;0.997	T	0.36311	-0.9753	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	139;163	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	T	163;139	ENSP00000278193:A163T;ENSP00000435353:A139T	ENSP00000278193:A163T	A	-	1	0	LIN7C	27476879	1.000000	0.71417	0.994000	0.49952	0.236000	0.25371	7.734000	0.84928	2.937000	0.99478	0.650000	0.86243	GCA		0.388	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388311.2	NM_018362		6	213	0	0	0	1	0	6	213				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	191	0	0	0	1	0	4	191				
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T	rs537144117	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	4	52	0	0	0	1	0	4	52				
STAB1	23166	broad.mit.edu	37	3	52538884	52538884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:52538884C>T	ENST00000321725.6	+	12	1445	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	457	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACCTTTAACCAATTCACGGT	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1369-1371)Caa>Taa		stabilin 1							70.0	66.0	68.0					3																	52538884		2203	4300	6503	SO:0001587	stop_gained	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538884C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1369C>T	3.37:g.52538884C>T	ENSP00000312946:p.Gln457*						p.Q457*	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	12	1445	+			457			FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	37	c.1369C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930121	0.52759	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.18	-4.26	0.03755	.	1.882850	0.02321	N	0.072972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.389	0.49802	0.7091:0.1792:0.1116:0.0	.	.	.	.	X	457	.	ENSP00000312946:Q457X	Q	+	1	0	STAB1	52513924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.559000	0.05971	-0.920000	0.03799	-1.086000	0.02197	CAA		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		45	56	0	0	0	1	0	45	56				
KHNYN	23351	broad.mit.edu	37	14	24901559	24901559	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24901559G>A	ENST00000251343.5	+	3	1231	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	KHNYN_ENST00000553935.1_Silent_p.P364P|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000556842.1_Silent_p.P364P|CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	364							RNA binding (GO:0003723)	p.P364P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CACCTGCACCGGAACCCCCAT	0.697											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			1	Substitution - coding silent(1)	p.P364P(1)	prostate(1)	kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1090-1092)ccG>ccA		KH and NYN domain containing							36.0	40.0	39.0					14																	24901559		2203	4298	6501	SO:0001819	synonymous_variant	23351							g.chr14:24901559G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1092G>A	14.37:g.24901559G>A			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Silent_p.P364P|KHNYN_ENST00000553935.1_Silent_p.P364P	p.P364P			O15037	KHNYN_HUMAN			3	1231	+			364					Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	c.1092G>A	CCDS32058.1																																																																																				0.697	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			15	85	0	0	0	1	0	15	85				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	315	1	0	0.00909568	1	0.00921536	4	315				
NLRC5	84166	broad.mit.edu	37	16	57110788	57110788	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:57110788G>A	ENST00000262510.6	+	40	5034	c.4809G>A	c.(4807-4809)agG>agA	p.R1603R	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1603					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGCTCTCAGGGCTGCCACCA	0.552																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4807-4809)agG>agA		NLR family, CARD domain containing 5							67.0	63.0	64.0					16																	57110788		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57110788G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4809G>A	16.37:g.57110788G>A						NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R|NLRC5_ENST00000436936.1_3'UTR	p.R1603R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			40	5034	+		all_neural(199;0.225)	1603					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.4809G>A	CCDS10773.1																																																																																				0.552	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		46	57	0	0	0	1	0	46	57				
PCDHA1	56147	broad.mit.edu	37	5	140166994	140166994	+	Silent	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:140166994C>T	ENST00000504120.2	+	1	1119	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PCDHA1_ENST00000378133.3_Silent_p.T373T|PCDHA1_ENST00000394633.3_Silent_p.T373T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	373	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCATCACCGTGTCTGACC	0.527																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1117-1119)acC>acT									116.0	102.0	106.0					5																	140166994		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140166994C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1119C>T	5.37:g.140166994C>T						PCDHA1_ENST00000394633.3_Silent_p.T373T|PCDHA1_ENST00000378133.3_Silent_p.T373T	p.T373T	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1119	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1119C>T	CCDS54913.1																																																																																				0.527	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		32	157	0	0	0	1	0	32	157				
ACBD5	91452	broad.mit.edu	37	10	27529418	27529418	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:27529418A>C	ENST00000375888.1	-	1	69	c.5T>G	c.(4-6)tTc>tGc	p.F2C	ACBD5_ENST00000375901.1_Intron|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000375905.4_Intron|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000396271.3_Intron|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	2					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATGAAACTGGAACATGGAGCG	0.632																																						ENST00000375888.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(4-6)tTc>tGc		acyl-CoA binding domain containing 5							42.0	46.0	44.0					10																	27529418		692	1591	2283	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27529418A>C	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.5T>G	10.37:g.27529418A>C	ENSP00000365049:p.Phe2Cys					ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Intron|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375905.4_Intron	p.F2C			Q5T8D3	ACBD5_HUMAN			1	69	-			2					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.5T>G		.	.	.	.	.	.	.	.	.	.	A	17.11	3.306480	0.60305	.	.	ENSG00000107897	ENST00000375888	T	0.15952	2.38	4.87	4.87	0.63330	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.80722	D	1	P	0.39131	0.661	B	0.36186	0.219	T	0.08207	-1.0733	7	.	.	.	5.4153	11.1532	0.48471	1.0:0.0:0.0:0.0	.	2	B7Z2R7	.	C	2	ENSP00000365049:F2C	.	F	-	2	0	ACBD5	27569424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.627000	0.46469	1.945000	0.56424	0.383000	0.25322	TTC		0.632	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		9	13	0	0	0	1	0	9	13				
SLC13A5	284111	broad.mit.edu	37	17	6599239	6599239	+	Silent	SNP	G	G	A	rs148018915		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr17:6599239G>A	ENST00000433363.2	-	7	1094	c.861C>T	c.(859-861)tgC>tgT	p.C287C	SLC13A5_ENST00000381074.4_Silent_p.C244C|SLC13A5_ENST00000293800.6_Silent_p.C270C|SLC13A5_ENST00000573648.1_Silent_p.C287C	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	287					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCTCTAGCCCGCAGCCCCAGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.001					ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(859-861)tgC>tgT		solute carrier family 13 (sodium-dependent citrate transporter), member 5		G	,	1,4405	2.1+/-5.4	0,1,2202	75.0	83.0	80.0		861,861	-8.4	0.0	17	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	287/523,287/569	6599239	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599239G>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.861C>T	17.37:g.6599239G>A						SLC13A5_ENST00000573648.1_Silent_p.C287C|SLC13A5_ENST00000293800.6_Silent_p.C270C|SLC13A5_ENST00000381074.4_Silent_p.C244C	p.C287C	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			7	1094	-			287					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.861C>T	CCDS11079.1																																																																																				0.547	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		4	191	0	0	0	1	0	4	191				
KDELC2	143888	broad.mit.edu	37	11	108352771	108352771	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:108352771C>G	ENST00000323468.5	-	4	928	c.863G>C	c.(862-864)gGt>gCt	p.G288A	KDELC2_ENST00000434945.2_Missense_Mutation_p.G232A|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	288						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATTTGTAACACCCCGCATGGC	0.438																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(694-696)gGt>gCt		KDEL (Lys-Asp-Glu-Leu) containing 2							117.0	115.0	115.0					11																	108352771		1905	4116	6021	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108352771C>G	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.863G>C	11.37:g.108352771C>G	ENSP00000315386:p.Gly288Ala					KDELC2_ENST00000323468.5_Missense_Mutation_p.G288A|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A	p.G232A			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	3	997	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	288					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.695G>C	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159776	0.78226	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.20598	2.06;2.06;2.06	5.26	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.57536	1.79	0.80722	D	1	P;P	0.46064	0.872;0.845	P;P	0.51582	0.674;0.458	T	0.00837	-1.1546	10	0.24483	T	0.36	-13.5951	14.3042	0.66375	0.0:0.9275:0.0:0.0725	.	288;232	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	A	288;232;232	ENSP00000315386:G288A;ENSP00000413429:G232A;ENSP00000364799:G232A	ENSP00000315386:G288A	G	-	2	0	KDELC2	107857981	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.615000	0.67702	2.738000	0.93877	0.591000	0.81541	GGT		0.438	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		40	200	0	0	0	1	0	40	200				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P717L(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2298	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	240	0	0	0	1	0	5	240				
SLC3A2	6520	broad.mit.edu	37	11	62623842	62623842	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:62623842G>A	ENST00000377890.2	+	1	269	c.101G>A	c.(100-102)gGg>gAg	p.G34E	SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SNHG1_ENST00000384706.1_RNA|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G34E|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000516331.1_RNA|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000383926.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	34					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCAGCGCGGGGGACGACTCA	0.607																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(100-102)gGg>gAg		solute carrier family 3 (amino acid transporter heavy chain), member 2							64.0	56.0	58.0					11																	62623842		2201	4299	6500	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62623842G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.101G>A	11.37:g.62623842G>A	ENSP00000367122:p.Gly34Glu					SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E	p.G34E			P08195	4F2_HUMAN			1	325	+			34					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.101G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828481	0.50845	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;T;D;D;D	0.99282	-5.68;2.65;-5.11;-5.51;-5.48	4.02	0.892	0.19230	.	19.728200	0.00721	U	0.000883	D	0.97182	0.9079	L	0.29908	0.895	0.09310	N	0.999998	B;B;B;B	0.23540	0.087;0.087;0.053;0.087	B;B;B;B	0.25759	0.029;0.043;0.028;0.063	D	0.95009	0.8150	10	0.20519	T	0.43	-7.5153	6.2214	0.20683	0.1079:0.3792:0.5128:0.0	.	34;34;34;34	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	E	34	ENSP00000367124:G34E;ENSP00000367123:G34E;ENSP00000367122:G34E;ENSP00000367121:G34E;ENSP00000444236:G34E	ENSP00000367121:G34E	G	+	2	0	SLC3A2	62380418	0.391000	0.25221	0.757000	0.31301	0.377000	0.30045	0.262000	0.18460	0.076000	0.16826	0.313000	0.20887	GGG		0.607	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		5	131	0	0	0	1	0	5	131				
KAZN	23254	broad.mit.edu	37	1	15382609	15382610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:15382609_15382610insG	ENST00000376030.2	+	5	1043_1044	c.749_750insG	c.(748-753)ctgaccfs	p.T251fs	KAZN_ENST00000400798.2_Frame_Shift_Ins_p.T157fs|KAZN_ENST00000400797.3_Frame_Shift_Ins_p.T157fs|KAZN_ENST00000422387.2_Frame_Shift_Ins_p.T251fs|KAZN_ENST00000503743.1_Frame_Shift_Ins_p.T251fs|KAZN_ENST00000361144.5_Frame_Shift_Ins_p.T245fs	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	251	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TTAGCTACGCTGACCAAGGACG	0.614																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(748-750)cacfs		kazrin, periplakin interacting protein																																				SO:0001589	frameshift_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15382609_15382610insG	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.750dupG	1.37:g.15382610_15382610dupG	ENSP00000365198:p.Thr251fs					KAZN_ENST00000503743.1_Frame_Shift_Ins_p.H250fs|KAZN_ENST00000400797.3_Frame_Shift_Ins_p.H156fs|KAZN_ENST00000361144.5_Frame_Shift_Ins_p.H244fs|KAZN_ENST00000422387.2_Frame_Shift_Ins_p.H250fs|KAZN_ENST00000400798.2_Frame_Shift_Ins_p.H156fs	p.H250fs	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			5	1043_1044	+			250			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Frame_Shift_Ins	INS	ENST00000376030.2	37	c.749_750insG	CCDS152.2																																																																																				0.614	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		23	58						23	58	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244217137	244217138	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:244217137_244217138insA	ENST00000358704.4	+	2	210_211	c.61_62insA	c.(61-63)cagfs	p.Q21fs		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	12					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACATTTGCTACAGTGTCTGAGC	0.505																																						ENST00000358704.4																			0											c.(61-63)gtgfs		zinc finger and BTB domain containing 18																																				SO:0001589	frameshift_variant	10472							g.chr1:244217137_244217138insA	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.62dupA	1.37:g.244217138_244217138dupA	ENSP00000351539:p.Gln21fs						p.V21fs	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	210_211	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Frame_Shift_Ins	INS	ENST00000358704.4	37	c.61_62insA	CCDS1622.1																																																																																				0.505	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		35	75						35	75	---	---	---	---
RP11-390F4.6	0	broad.mit.edu	37	9	6663836	6663839	+	lincRNA	DEL	AAAC	AAAC	-	rs34389938|rs140481533|rs150953125		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:6663836_6663839delAAAC	ENST00000413145.1	+	0	130				RN7SL123P_ENST00000577239.1_RNA																							TCCTATTTGTaaacaaacaaacaa	0.417																																						ENST00000413145.1																			0																																																			0							g.chr9:6663836_6663839delAAAC																													9.37:g.6663844_6663847delAAAC														0	130	+									RNA	DEL	ENST00000413145.1	37																																																																																						0.417	RP11-390F4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051688.1			2	4						2	4	---	---	---	---
FAM189A2	9413	broad.mit.edu	37	9	72003231	72003231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:72003231delG	ENST00000257515.8	+	10	1434	c.1014delG	c.(1012-1014)gtgfs	p.V338fs	FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs|FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000469179.1_3'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	338						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGCTGCTGGTGGCGAGGTTCC	0.483																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1012-1014)gtfs		family with sequence similarity 189, member A2							79.0	74.0	76.0					9																	72003231		2203	4300	6503	SO:0001589	frameshift_variant	9413					integral to membrane		g.chr9:72003231delG	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1014delG	9.37:g.72003231delG	ENSP00000257515:p.Val338fs					FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs	p.V338fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			10	1434	+			338					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Frame_Shift_Del	DEL	ENST00000257515.8	37	c.1014delG	CCDS6629.1																																																																																				0.483	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		11	172						11	172	---	---	---	---
OR4C5	79346	broad.mit.edu	37	11	48387684	48387684	+	Frame_Shift_Del	DEL	T	T	-	rs67755516		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:48387684delT	ENST00000319813.3	-	1	333	c.334delA	c.(334-336)actfs	p.T112fs				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AAGGAAATAGTTTTCTTTTCA	0.433																																						ENST00000319813.3																			0											c.(334-336)ctfs		olfactory receptor, family 4, subfamily C, member 5																																				SO:0001589	frameshift_variant	79346							g.chr11:48387684delT			11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.334delA	11.37:g.48387684delT	ENSP00000321338:p.Thr112fs						p.T112fs							1	333	-								Q6IFB2	Frame_Shift_Del	DEL	ENST00000319813.3	37	c.334delA																																																																																					0.433	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000404174.1	NG_002247		2	4						2	4	---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7338794	7338794	+	5'Flank	DEL	G	G	-	rs34548221|rs78202591|rs397851127		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr12:7338794delG	ENST00000455147.2	+	0	0				RP11-273B20.3_ENST00000543061.1_RNA|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						cctgttgagaggggggactga	0.502													?|GGGGGG|GGGGG|unsure	1968	0.392971	0.1278	0.6556	5008	,	,		21746	0.3998		0.5109	False		,,,				2504	0.4366					ENST00000545794.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:7338794delG	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542			12.37:g.7338794delG	Exception_encountered					RP11-273B20.3_ENST00000543061.1_RNA								0	279	-								A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	RNA	DEL	ENST00000455147.2	37		CCDS44823.1																																																																																				0.502	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		3	3						3	3	---	---	---	---
LINC00511	400619	broad.mit.edu	37	17	70623820	70623821	+	lincRNA	INS	-	-	A	rs201261004		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr17:70623820_70623821insA	ENST00000581549.1	-	0	206					NR_033876.1				long intergenic non-protein coding RNA 511																		aaaactgcctgaaaaaaaaaga	0.426																																						ENST00000581549.1																			0																																																			0							g.chr17:70623820_70623821insA	AK129994		17q24.3	2012-10-12			ENSG00000227036	ENSG00000227036		"""Long non-coding RNAs"""	43564	non-coding RNA	RNA, long non-coding							Standard	NR_033876		Approved		uc021ucl.1		OTTHUMG00000132227		17.37:g.70623829_70623829dupA								NR_033876.1						0	206	-									RNA	INS	ENST00000581549.1	37																																																																																						0.426	LINC00511-018	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441438.1			2	4						2	4	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	116						7	116	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	231						7	231	---	---	---	---
