#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
WFDC1	58189	broad.mit.edu	37	16	84328689	84328689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:84328689G>A	ENST00000219454.5	+	1	438	c.112G>A	c.(112-114)Gca>Aca	p.A38T	WFDC1_ENST00000568638.1_Missense_Mutation_p.A38T|RP11-558A11.2_ENST00000569200.1_RNA	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	38					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTGGAAACGGGCATTGCCTGC	0.642																																						ENST00000219454.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						c.(112-114)Gca>Aca		WAP four-disulfide core domain 1							78.0	85.0	83.0					16																	84328689		2200	4300	6500	SO:0001583	missense	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84328689G>A	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.112G>A	16.37:g.84328689G>A	ENSP00000219454:p.Ala38Thr					WFDC1_ENST00000568638.1_Missense_Mutation_p.A38T	p.A38T			Q9HC57	WFDC1_HUMAN			1	438	+			38					D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	c.112G>A	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425598	0.62733	.	.	ENSG00000103175	ENST00000219454	T	0.32988	1.43	4.26	1.12	0.20585	.	0.352416	0.28301	N	0.015852	T	0.19208	0.0461	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.14364	-1.0475	10	0.41790	T	0.15	-2.7979	6.3544	0.21393	0.3493:0.0:0.6507:0.0	.	38	Q9HC57	WFDC1_HUMAN	T	38	ENSP00000219454:A38T	ENSP00000219454:A38T	A	+	1	0	WFDC1	82886190	0.015000	0.18098	0.060000	0.19600	0.740000	0.42216	0.243000	0.18106	0.145000	0.18977	0.462000	0.41574	GCA		0.642	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			5	161	0	0	0	1	0	5	161				
OR14A16	284532	broad.mit.edu	37	1	247978935	247978935	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr1:247978935A>G	ENST00000357627.1	-	1	96	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCACACAAATAAATCAACAAG	0.368																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(97-99)Tat>Cat		olfactory receptor, family 14, subfamily A, member 16							73.0	73.0	73.0					1																	247978935		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978935A>G	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.97T>C	1.37:g.247978935A>G	ENSP00000350248:p.Tyr33His						p.Y33H	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	96	-			33					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.97T>C	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504111	0.64410	.	.	ENSG00000196772	ENST00000357627	T	0.04654	3.58	3.36	3.36	0.38483	.	0.000000	0.41294	U	0.000902	T	0.23094	0.0558	M	0.92691	3.335	0.28469	N	0.915493	D	0.67145	0.996	P	0.62560	0.904	T	0.11012	-1.0605	10	0.87932	D	0	.	10.5824	0.45263	1.0:0.0:0.0:0.0	.	33	Q8NHC5	O14AG_HUMAN	H	33	ENSP00000350248:Y33H	ENSP00000350248:Y33H	Y	-	1	0	OR14A16	246045558	0.979000	0.34478	0.059000	0.19551	0.004000	0.04260	4.314000	0.59166	1.574000	0.49760	0.481000	0.45027	TAT		0.368	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		3	56	0	0	0	1	0	3	56				
RNASEH1	246243	broad.mit.edu	37	2	3599793	3599793	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:3599793T>C	ENST00000315212.3	-	3	705	c.350A>G	c.(349-351)cAc>cGc	p.H117R		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	117					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGGCTTCATGTGCTTTGCATA	0.512																																						ENST00000315212.3																			0				endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13						c.(349-351)cAc>cGc		ribonuclease H1							99.0	94.0	96.0					2																	3599793		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3599793T>C	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.350A>G	2.37:g.3599793T>C	ENSP00000313350:p.His117Arg						p.H117R	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	3	705	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		117					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.350A>G	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	T	2.581	-0.297438	0.05532	.	.	ENSG00000171865	ENST00000315212	T	0.39592	1.07	6.03	-0.16	0.13375	.	0.414565	0.24866	N	0.034977	T	0.20210	0.0486	N	0.14661	0.345	0.09310	N	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.25813	-1.0121	10	0.10636	T	0.68	-44.83	10.178	0.42950	0.5266:0.0:0.0:0.4734	.	117	O60930	RNH1_HUMAN	R	117	ENSP00000313350:H117R	ENSP00000313350:H117R	H	-	2	0	RNASEH1	3577668	0.376000	0.25098	0.078000	0.20375	0.097000	0.18754	0.343000	0.19944	0.100000	0.17581	0.533000	0.62120	CAC		0.512	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			43	50	0	0	0	1	0	43	50				
IMPG1	3617	broad.mit.edu	37	6	76640749	76640749	+	Missense_Mutation	SNP	G	G	T	rs545180592		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:76640749G>T	ENST00000369950.3	-	15	2353	c.2164C>A	c.(2164-2166)Ctg>Atg	p.L722M	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGACCGTCCAGGCTCCCCTGG	0.582																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2164-2166)Ctg>Atg		interphotoreceptor matrix proteoglycan 1							123.0	103.0	110.0					6																	76640749		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76640749G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2164C>A	6.37:g.76640749G>T	ENSP00000358966:p.Leu722Met					IMPG1_ENST00000369963.3_3'UTR	p.L722M	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			15	2353	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	722						Missense_Mutation	SNP	ENST00000369950.3	37	c.2164C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592317	0.46214	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.26518	1.73;1.84	5.05	-2.08	0.07254	Epidermal growth factor-like, type 3 (1);	0.514735	0.15757	N	0.246126	T	0.15998	0.0385	L	0.43923	1.385	0.09310	N	1	D	0.67145	0.996	P	0.62740	0.906	T	0.07028	-1.0794	10	0.62326	D	0.03	.	4.45	0.11616	0.0731:0.3699:0.304:0.253	.	722	Q17R60	IMPG1_HUMAN	M	722;83	ENSP00000358966:L722M;ENSP00000358968:L83M	ENSP00000358966:L722M	L	-	1	2	IMPG1	76697469	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.043000	0.13971	-0.844000	0.04184	0.461000	0.40582	CTG		0.582	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		13	71	1	0	2.27111e-07	1	2.42004e-07	13	71				
AFTPH	54812	broad.mit.edu	37	2	64778694	64778694	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:64778694G>A	ENST00000422803.1	+	2	400	c.86G>A	c.(85-87)gGg>gAg	p.G29E	AFTPH_ENST00000409933.1_Missense_Mutation_p.G29E|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_Missense_Mutation_p.G29E|AFTPH_ENST00000238855.7_Missense_Mutation_p.G29E			Q6ULP2	AFTIN_HUMAN	aftiphilin	29					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GATGAATTTGGGGAATTTGGT	0.433																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(85-87)gGg>gAg		aftiphilin							134.0	142.0	139.0					2																	64778694		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778694G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.86G>A	2.37:g.64778694G>A	ENSP00000397726:p.Gly29Glu					AFTPH_ENST00000238855.7_Missense_Mutation_p.G29E|AFTPH_ENST00000409933.1_Missense_Mutation_p.G29E|AFTPH_ENST00000238856.4_Missense_Mutation_p.G29E	p.G29E			Q6ULP2	AFTIN_HUMAN			2	400	+			29					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.86G>A		.	.	.	.	.	.	.	.	.	.	G	16.35	3.097238	0.56075	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.63	4.76	0.60689	.	0.061261	0.64402	N	0.000007	T	0.50257	0.1605	M	0.72894	2.215	0.50171	D	0.999859	P;P;P;D	0.89917	0.6;0.6;0.6;1.0	B;B;B;D	0.97110	0.383;0.383;0.383;1.0	T	0.54814	-0.8237	10	0.72032	D	0.01	-7.93	14.4915	0.67654	0.071:0.0:0.9289:0.0	.	29;29;29;29	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	E	29	ENSP00000238856:G29E;ENSP00000397726:G29E;ENSP00000238855:G29E;ENSP00000387071:G29E	ENSP00000238855:G29E	G	+	2	0	AFTPH	64632198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.674000	0.83992	1.536000	0.49237	0.655000	0.94253	GGG		0.433	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		31	128	0	0	0	1	0	31	128				
ALMS1	7840	broad.mit.edu	37	2	73677010	73677010	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:73677010A>C	ENST00000264448.6	+	8	3464	c.3353A>C	c.(3352-3354)gAg>gCg	p.E1118A	ALMS1_ENST00000377715.1_Missense_Mutation_p.E1118A|ALMS1_ENST00000409009.1_Missense_Mutation_p.E1076A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1118	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGCCTAAAGAGGCTCTGAAA	0.468																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3352-3354)gAg>gCg		Alstrom syndrome 1							121.0	121.0	121.0					2																	73677010		1850	4109	5959	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677010A>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3353A>C	2.37:g.73677010A>C	ENSP00000264448:p.Glu1118Ala					ALMS1_ENST00000409009.1_Missense_Mutation_p.E1076A|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1118A	p.E1118A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3464	+			1118			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3353A>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.164594	0.38217	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16897	3.19;3.19;2.31	4.4	-0.627	0.11541	.	0.882068	0.09425	N	0.803881	T	0.24431	0.0592	L	0.52573	1.65	0.09310	N	1	P;D;D	0.65815	0.955;0.995;0.981	P;D;P	0.63877	0.652;0.919;0.718	T	0.17107	-1.0380	10	0.38643	T	0.18	.	0.6966	0.00900	0.4801:0.1724:0.1811:0.1664	.	1118;1076;1118	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	A	1076;1118;1118	ENSP00000386627:E1076A;ENSP00000264448:E1118A;ENSP00000366944:E1118A	ENSP00000264448:E1118A	E	+	2	0	ALMS1	73530518	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.487000	0.22356	-0.093000	0.12396	0.482000	0.46254	GAG		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		104	137	0	0	0	1	0	104	137				
CASR	846	broad.mit.edu	37	3	122002556	122002556	+	Silent	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:122002556C>T	ENST00000490131.1	+	7	2127	c.1755C>T	c.(1753-1755)tgC>tgT	p.C585C	CASR_ENST00000296154.5_Silent_p.C585C|CASR_ENST00000498619.1_Silent_p.C595C|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	585					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTAACAAGTGCCCAGATGACT	0.502																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1783-1785)tgC>tgT		calcium-sensing receptor	Cinacalcet(DB01012)						106.0	92.0	97.0					3																	122002556		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002556C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1755C>T	3.37:g.122002556C>T						CASR_ENST00000296154.5_Silent_p.C585C|CASR_ENST00000490131.1_Silent_p.C585C	p.C595C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2223	+			585					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.1785C>T	CCDS3010.1																																																																																				0.502	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		10	70	0	0	0	1	0	10	70				
ATRX	546	broad.mit.edu	37	X	76939841	76939841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:76939841C>A	ENST00000373344.5	-	9	1121	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E265*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	303					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTACTCTTTTCACTGTCAACT	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(907-909)Gaa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						119.0	110.0	113.0					X																	76939841		2203	4294	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939841C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.907G>T	X.37:g.76939841C>A	ENSP00000362441:p.Glu303*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.E265*|ATRX_ENST00000480283.1_5'UTR	p.E303*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1121	-			303					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.907G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	37	6.289117	0.97444	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.5	5.5	0.81552	.	0.136924	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-18.3861	18.4159	0.90570	0.0:1.0:0.0:0.0	.	.	.	.	X	303;265;259	.	ENSP00000362441:E303X	E	-	1	0	ATRX	76826497	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.715000	0.68430	2.290000	0.77057	0.502000	0.49764	GAA		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		43	40	1	0	1.96642e-18	1	2.13029e-18	43	40				
RNF44	22838	broad.mit.edu	37	5	175956358	175956358	+	Silent	SNP	C	C	T	rs145628075		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:175956358C>T	ENST00000274811.4	-	10	1691	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	RNF44_ENST00000537487.1_Silent_p.A308A	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	389							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGCCGCGCCTCGAAGT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18075	0.001		0.0	False		,,,				2504	0.0					ENST00000274811.4																			0				endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(1165-1167)gcG>gcA		ring finger protein 44		C		0,4406		0,0,2203	57.0	57.0	57.0		1167	-6.6	0.7	5	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF44	NM_014901.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		389/433	175956358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22838						zinc ion binding	g.chr5:175956358C>T	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1167G>A	5.37:g.175956358C>T						RNF44_ENST00000537487.1_Silent_p.A308A	p.A389A	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1691	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	389					B4DYE0|Q8ND05|Q9UPQ2	Silent	SNP	ENST00000274811.4	37	c.1167G>A	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	C	7.609	0.674332	0.14841	0.0	1.16E-4	ENSG00000146083	ENST00000506378	T	0.41758	0.99	5.07	-6.61	0.01818	.	0.479580	0.23307	N	0.049612	T	0.33673	0.0871	.	.	.	0.43296	D	0.995282	.	.	.	.	.	.	T	0.33369	-0.9871	7	0.21014	T	0.42	-4.2511	10.572	0.45206	0.0:0.1188:0.3966:0.4846	.	.	.	.	T	144	ENSP00000425253:A144T	ENSP00000425253:A144T	A	-	1	0	RNF44	175888964	0.000000	0.05858	0.708000	0.30435	0.556000	0.35491	-2.609000	0.00886	-1.029000	0.03317	-0.333000	0.08304	GCG		0.607	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			15	58	0	0	0	1	0	15	58				
ATP2A2	488	broad.mit.edu	37	12	110760805	110760805	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:110760805A>G	ENST00000539276.2	+	6	581	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	ATP2A2_ENST00000395494.2_Intron|ATP2A2_ENST00000308664.6_Missense_Mutation_p.K158E|ATP2A2_ENST00000550248.2_3'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	158					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGTTGGTGACAAAGTTCCTGC	0.313																																						ENST00000308664.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(472-474)Aaa>Gaa		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							83.0	83.0	83.0					12																	110760805		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110760805A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.472A>G	12.37:g.110760805A>G	ENSP00000440045:p.Lys158Glu					ATP2A2_ENST00000539276.2_Missense_Mutation_p.K158E|ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000395494.2_Intron	p.K158E	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN			6	1146	+			158					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.472A>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674405	0.88445	.	.	ENSG00000174437	ENST00000308664;ENST00000539276;ENST00000550248	D;D	0.90261	-2.64;-2.64	5.57	5.57	0.84162	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	L	0.56280	1.765	0.80722	D	1	P;D	0.54047	0.955;0.964	B;P	0.51385	0.441;0.668	D	0.92633	0.6118	10	0.87932	D	0	.	16.0204	0.80478	1.0:0.0:0.0:0.0	.	158;158	P16615-2;P16615	.;AT2A2_HUMAN	E	158;158;33	ENSP00000311186:K158E;ENSP00000440045:K158E	ENSP00000311186:K158E	K	+	1	0	ATP2A2	109245188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.247000	0.74100	0.528000	0.53228	AAA		0.313	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		12	43	0	0	0	1	0	12	43				
MED12	9968	broad.mit.edu	37	X	70357061	70357061	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70357061G>A	ENST00000374080.3	+	39	5608	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	MED12_ENST00000374102.1_Missense_Mutation_p.R1859H|MED12_ENST00000333646.6_Missense_Mutation_p.R1859H			Q93074	MED12_HUMAN	mediator complex subunit 12	1859	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACCCATACCGTCCTGTGCGC	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5575-5577)cGt>cAt		mediator complex subunit 12							65.0	63.0	64.0					X																	70357061		2087	4193	6280	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70357061G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5576G>A	X.37:g.70357061G>A	ENSP00000363193:p.Arg1859His					MED12_ENST00000374102.1_Missense_Mutation_p.R1859H|MED12_ENST00000374080.3_Missense_Mutation_p.R1859H|MED12_ENST00000478889.1_3'UTR	p.R1859H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			39	5775	+	Renal(35;0.156)		1859			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5576G>A	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.87|14.87	2.665503|2.665503	0.47677|0.47677	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60797|.	0.22;0.24;0.24;0.16;1.26|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70701|0.70701	0.3254|0.3254	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.78314|.	0.984;0.991;0.984;0.991|.	T|T	0.70306|0.70306	-0.4908|-0.4908	10|5	0.15066|.	T|.	0.55|.	-12.7757|-12.7757	16.9872|16.9872	0.86342|0.86342	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1859;1706;1859;1859|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	H|I	1859;1859;1859;1859;1827;604|80	ENSP00000333125:R1859H;ENSP00000363215:R1859H;ENSP00000363193:R1859H;ENSP00000414203:R1827H;ENSP00000408388:R604H|.	ENSP00000333125:R1859H|.	R|V	+|+	2|1	0|0	MED12|MED12	70273786|70273786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.087000|7.087000	0.76893|0.76893	2.016000|2.016000	0.59253|0.59253	0.479000|0.479000	0.44913|0.44913	CGT|GTC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		15	51	0	0	0	1	0	15	51				
LRRC30	339291	broad.mit.edu	37	18	7231999	7231999	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:7231999T>C	ENST00000383467.2	+	1	877	c.863T>C	c.(862-864)cTg>cCg	p.L288P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	288										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGGGGGGCCTGGAGATGCTC	0.587																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(862-864)cTg>cCg		leucine rich repeat containing 30							118.0	127.0	124.0					18																	7231999		1936	4136	6072	SO:0001583	missense	339291							g.chr18:7231999T>C		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.863T>C	18.37:g.7231999T>C	ENSP00000372959:p.Leu288Pro						p.L288P	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	877	+			288						Missense_Mutation	SNP	ENST00000383467.2	37	c.863T>C	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983819	0.74474	.	.	ENSG00000206422	ENST00000383467	T	0.48201	0.82	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.67069	0.2854	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67734	-0.5594	10	0.46703	T	0.11	.	15.7723	0.78180	0.0:0.0:0.0:1.0	.	288	A6NM36	LRC30_HUMAN	P	288	ENSP00000372959:L288P	ENSP00000372959:L288P	L	+	2	0	LRRC30	7221999	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.698000	0.84413	2.132000	0.65825	0.533000	0.62120	CTG		0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		127	164	0	0	0	1	0	127	164				
DOCK5	80005	broad.mit.edu	37	8	25232090	25232090	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:25232090A>G	ENST00000276440.7	+	37	3780	c.3736A>G	c.(3736-3738)Aag>Gag	p.K1246E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1246	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATATCTGTACAAGCTTCGAGA	0.463																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3736-3738)Aag>Gag		dedicator of cytokinesis 5							234.0	215.0	222.0					8																	25232090		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25232090A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3736A>G	8.37:g.25232090A>G	ENSP00000276440:p.Lys1246Glu						p.K1246E	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	37	3780	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1246			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3736A>G	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.256473|5.256473	0.95336|0.95336	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.56611|.	0.45|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.108661|.	0.64402|.	D|.	0.000005|.	T|T	0.75354|0.75354	0.3838|0.3838	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.982;1.0;0.987;0.958|.	P;D;P;P|.	0.81914|.	0.885;0.995;0.858;0.664|.	T|T	0.75584|0.75584	-0.3267|-0.3267	10|5	0.87932|.	D|.	0|.	.|.	16.2484|16.2484	0.82467|0.82467	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	35;1236;1021;1246|.	Q6ZP32;D3DSS6;Q68DL4;Q9H7D0|.	.;.;.;DOCK5_HUMAN|.	E|R	1246|1017	ENSP00000276440:K1246E|.	ENSP00000276440:K1246E|.	K|Q	+|+	1|2	0|0	DOCK5|DOCK5	25288007|25288007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	9.257000|9.257000	0.95545|0.95545	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.463	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		55	230	0	0	0	1	0	55	230				
IGF2BP1	10642	broad.mit.edu	37	17	47126779	47126779	+	Silent	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:47126779T>C	ENST00000290341.3	+	15	2041	c.1707T>C	c.(1705-1707)agT>agC	p.S569S	AC105030.1_ENST00000578722.1_RNA|IGF2BP1_ENST00000431824.2_Silent_p.S430S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	569	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGACAGAGTAACCAGGCCC	0.592																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1705-1707)agT>agC		insulin-like growth factor 2 mRNA binding protein 1							128.0	92.0	104.0					17																	47126779		2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47126779T>C	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1707T>C	17.37:g.47126779T>C						IGF2BP1_ENST00000431824.2_Silent_p.S430S	p.S569S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			15	2041	+			569			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Silent	SNP	ENST00000290341.3	37	c.1707T>C	CCDS11543.1																																																																																				0.592	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		18	34	0	0	0	1	0	18	34				
B3GNT3	10331	broad.mit.edu	37	19	17918750	17918750	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:17918750A>T	ENST00000318683.6	+	2	281	c.134A>T	c.(133-135)gAg>gTg	p.E45V	B3GNT3_ENST00000595387.1_Missense_Mutation_p.E45V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	45					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCGATCCCCGAGGCCCTGGCC	0.682																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(133-135)gAg>gTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							19.0	21.0	20.0					19																	17918750		2198	4288	6486	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918750A>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.134A>T	19.37:g.17918750A>T	ENSP00000321874:p.Glu45Val					B3GNT3_ENST00000595387.1_Missense_Mutation_p.E45V	p.E45V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	281	+			45					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.134A>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	A	9.087	1.000791	0.19121	.	.	ENSG00000179913	ENST00000318683	T	0.28255	1.62	3.66	-2.17	0.07059	.	2.875030	0.02276	N	0.068926	T	0.17023	0.0409	N	0.12182	0.205	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.15122	-1.0448	10	0.37606	T	0.19	.	4.4753	0.11733	0.3306:0.171:0.0:0.4984	.	45	Q9Y2A9	B3GN3_HUMAN	V	45	ENSP00000321874:E45V	ENSP00000321874:E45V	E	+	2	0	B3GNT3	17779750	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.148000	0.01292	-0.547000	0.06207	0.391000	0.25812	GAG		0.682	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		10	41	0	0	0	1	0	10	41				
MX2	4600	broad.mit.edu	37	21	42749758	42749758	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:42749758C>T	ENST00000330714.3	+	3	476	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	MX2_ENST00000543692.1_Missense_Mutation_p.R98C	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	98					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GCAGAAGGTGCGCCCCTGCAT	0.632																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(292-294)Cgc>Tgc		myxovirus (influenza virus) resistance 2 (mouse)							86.0	79.0	81.0					21																	42749758		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42749758C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.292C>T	21.37:g.42749758C>T	ENSP00000333657:p.Arg98Cys					MX2_ENST00000543692.1_Missense_Mutation_p.R98C	p.R98C	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			3	476	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	98					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.292C>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850445	0.51270	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000418103	D;D;D;D	0.96041	-3.02;-3.89;-3.89;-3.89	3.92	3.02	0.34903	Dynamin, GTPase domain (1);	0.172387	0.52532	D	0.000071	D	0.97158	0.9071	M	0.78285	2.405	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97139	0.9823	10	0.87932	D	0	-13.1058	12.2297	0.54480	0.1722:0.8278:0.0:0.0	.	98	P20592	MX2_HUMAN	C	98	ENSP00000333657:R98C;ENSP00000393975:R98C;ENSP00000446017:R98C;ENSP00000410188:R98C	ENSP00000333657:R98C	R	+	1	0	MX2	41671628	1.000000	0.71417	0.999000	0.59377	0.045000	0.14185	3.942000	0.56614	0.918000	0.36919	0.655000	0.94253	CGC		0.632	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		4	112	0	0	0	1	0	4	112				
SORCS1	114815	broad.mit.edu	37	10	108489868	108489868	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:108489868C>T	ENST00000263054.6	-	6	971	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	SORCS1_ENST00000344440.6_Missense_Mutation_p.V322M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	322					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GACCCCATCACAGACCTAAAA	0.403																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(964-966)Gtg>Atg		sortilin-related VPS10 domain containing receptor 1							108.0	92.0	97.0					10																	108489868		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108489868C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.964G>A	10.37:g.108489868C>T	ENSP00000263054:p.Val322Met					SORCS1_ENST00000344440.6_Missense_Mutation_p.V322M	p.V322M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	6	971	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	322					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.964G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139427	0.56936	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.36340	1.26;1.26	5.89	5.89	0.94794	VPS10 (1);	0.140032	0.49916	D	0.000132	T	0.38585	0.1046	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B	0.32302	0.248;0.363;0.363;0.248;0.363	B;B;B;B;B	0.34652	0.058;0.187;0.124;0.058;0.124	T	0.09509	-1.0671	9	.	.	.	-21.9947	15.7619	0.78091	0.0:1.0:0.0:0.0	.	322;322;322;322;322	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	322	ENSP00000263054:V322M;ENSP00000345964:V322M	.	V	-	1	0	SORCS1	108479858	0.997000	0.39634	1.000000	0.80357	0.944000	0.59088	2.427000	0.44740	2.793000	0.96121	0.655000	0.94253	GTG		0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	56	0	0	0	1	0	4	56				
SRD5A3	79644	broad.mit.edu	37	4	56236091	56236091	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:56236091G>A	ENST00000264228.4	+	5	1018	c.790G>A	c.(790-792)Gtt>Att	p.V264I	SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	264					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GATGATCTACGTTTCCATGGC	0.468																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(790-792)Gtt>Att		steroid 5 alpha-reductase 3							186.0	151.0	163.0					4																	56236091		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56236091G>A	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.790G>A	4.37:g.56236091G>A	ENSP00000264228:p.Val264Ile					SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA	p.V264I	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		5	1018	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		264					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.790G>A	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	4.820	0.152546	0.09185	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.24908	1.83;1.83	5.41	-6.27	0.02026	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.722611	0.13986	N	0.349164	T	0.09291	0.0229	N	0.05230	-0.09	0.25807	N	0.984444	B	0.02656	0.0	B	0.08055	0.003	T	0.40757	-0.9546	10	0.07644	T	0.81	-19.9738	15.0174	0.71597	0.4024:0.0:0.5976:0.0	.	264	Q9H8P0	PORED_HUMAN	I	264;128	ENSP00000264228:V264I;ENSP00000424714:V128I	ENSP00000264228:V264I	V	+	1	0	SRD5A3	55930848	0.187000	0.23238	0.426000	0.26672	0.097000	0.18754	-0.243000	0.08915	-0.666000	0.05310	-1.417000	0.01113	GTT		0.468	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		22	78	0	0	0	1	0	22	78				
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A	rs542617314	byFrequency	TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AACGTCTTGGCGGCAGGCGCC	0.478																																						ENST00000434078.2																			0																																																			0							g.chr8:11986016C>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986016C>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.478	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		4	51	1	0	3.59834e-05	1	3.77245e-05	4	51				
MCM3AP	8888	broad.mit.edu	37	21	47660773	47660773	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:47660773G>A	ENST00000397708.1	-	27	5839	c.5585C>T	c.(5584-5586)gCg>gTg	p.A1862V	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1862V|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1862					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAACACTGCGCCAAGAGCTC	0.512																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5584-5586)gCg>gTg		minichromosome maintenance complex component 3 associated protein							138.0	131.0	133.0					21																	47660773		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660773G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5585C>T	21.37:g.47660773G>A	ENSP00000380820:p.Ala1862Val					MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1862V|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA	p.A1862V			O60318	MCM3A_HUMAN			27	5839	-	Breast(49;0.112)		1862					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5585C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	7.561	0.664757	0.14710	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03745	3.82;3.82	5.46	3.58	0.41010	.	0.405345	0.25741	N	0.028605	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.0;0.002	T	0.43081	-0.9413	10	0.30854	T	0.27	-1.6385	9.1531	0.36976	0.1715:0.0:0.8285:0.0	.	1862;357	O60318;B3KT88	MCM3A_HUMAN;.	V	1862;1862;357	ENSP00000380820:A1862V;ENSP00000291688:A1862V	ENSP00000291688:A1862V	A	-	2	0	MCM3AP	46485201	0.991000	0.36638	0.029000	0.17559	0.041000	0.13682	2.856000	0.48341	0.601000	0.29879	0.650000	0.86243	GCG		0.512	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		54	70	0	0	0	1	0	54	70				
CEP97	79598	broad.mit.edu	37	3	101477057	101477057	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:101477057A>T	ENST00000341893.3	+	9	2359	c.1607A>T	c.(1606-1608)aAa>aTa	p.K536I	CEP97_ENST00000327230.4_Missense_Mutation_p.K536I|CEP97_ENST00000494050.1_Missense_Mutation_p.K477I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	536	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACTTCAGAGAAACTTCCCATG	0.393																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1606-1608)aAa>aTa		centrosomal protein 97kDa							98.0	109.0	105.0					3																	101477057		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101477057A>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1607A>T	3.37:g.101477057A>T	ENSP00000342510:p.Lys536Ile					CEP97_ENST00000327230.4_Missense_Mutation_p.K536I|CEP97_ENST00000494050.1_Missense_Mutation_p.K477I	p.K536I			Q8IW35	CEP97_HUMAN			9	2359	+			536			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1607A>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778810	0.49891	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.52;0.48;0.48	5.25	4.09	0.47781	.	0.590041	0.19395	N	0.115318	T	0.46386	0.1390	L	0.34521	1.04	0.19575	N	0.999966	P;P;P	0.46220	0.694;0.874;0.8	B;P;B	0.48141	0.244;0.568;0.347	T	0.35101	-0.9802	10	0.62326	D	0.03	-12.629	6.7664	0.23568	0.7691:0.1523:0.0785:0.0	.	477;536;536	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	I	536;536;477	ENSP00000342510:K536I;ENSP00000325881:K536I;ENSP00000418185:K477I	ENSP00000325881:K536I	K	+	2	0	CEP97	102959747	0.434000	0.25570	0.746000	0.31095	0.642000	0.38348	1.132000	0.31418	0.840000	0.34995	0.254000	0.18369	AAA		0.393	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		71	119	0	0	0	1	0	71	119				
SERAC1	84947	broad.mit.edu	37	6	158541488	158541488	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:158541488C>T	ENST00000367104.3	-	11	1266	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I	SERAC1_ENST00000367101.1_Missense_Mutation_p.V379I|SERAC1_ENST00000367102.2_Missense_Mutation_p.V379I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	379					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGCACATATACGCCATCCTGA	0.443																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1135-1137)Gta>Ata		serine active site containing 1							189.0	172.0	178.0					6																	158541488		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158541488C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1135G>A	6.37:g.158541488C>T	ENSP00000356071:p.Val379Ile					SERAC1_ENST00000367101.1_Missense_Mutation_p.V379I|SERAC1_ENST00000367104.3_Missense_Mutation_p.V379I	p.V379I			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	11	1276	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	379					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.1135G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894330	0.52121	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.71934	-0.61;-0.61;-0.61	6.17	6.17	0.99709	.	0.103117	0.64402	D	0.000003	T	0.33498	0.0865	L	0.28740	0.885	0.38669	D	0.952254	P	0.49307	0.922	B	0.29785	0.107	T	0.37888	-0.9686	10	0.31617	T	0.26	-26.5299	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	379	Q96JX3	SRAC1_HUMAN	I	379	ENSP00000356069:V379I;ENSP00000356071:V379I;ENSP00000356068:V379I	ENSP00000356068:V379I	V	-	1	0	SERAC1	158461476	1.000000	0.71417	0.472000	0.27241	0.568000	0.35870	4.517000	0.60503	-1.531000	0.01749	-0.165000	0.13383	GTA		0.443	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		11	89	0	0	0	1	0	11	89				
ARSI	340075	broad.mit.edu	37	5	149677330	149677330	+	Missense_Mutation	SNP	G	G	A	rs199878549		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:149677330G>A	ENST00000328668.7	-	2	1736	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	386					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGATCTCCGTGCGTGGTGA	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19781	0.0		0.0	False		,,,				2504	0.0					ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1156-1158)aCg>aTg		arylsulfatase family, member I							46.0	49.0	48.0					5																	149677330		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677330G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1157C>T	5.37:g.149677330G>A	ENSP00000333395:p.Thr386Met						p.T386M	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1736	-			386					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1157C>T	CCDS34275.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.67	1.414723	0.25465	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96522	-4.04;-4.04	4.76	3.8	0.43715	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.179812	0.49305	D	0.000146	D	0.94644	0.8273	M	0.66378	2.025	0.34806	D	0.737255	B	0.17038	0.02	B	0.17098	0.017	D	0.95340	0.8437	10	0.45353	T	0.12	.	13.5212	0.61569	0.0878:0.0:0.9122:0.0	.	386	Q5FYB1	ARSI_HUMAN	M	386;243	ENSP00000333395:T386M;ENSP00000426879:T243M	ENSP00000333395:T386M	T	-	2	0	ARSI	149657523	0.006000	0.16342	0.981000	0.43875	0.991000	0.79684	1.445000	0.35079	2.460000	0.83146	0.561000	0.74099	ACG		0.647	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		41	40	0	0	0	1	0	41	40				
CXorf57	55086	broad.mit.edu	37	X	105882865	105882865	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:105882865A>T	ENST00000372548.4	+	9	1791	c.1682A>T	c.(1681-1683)tAt>tTt	p.Y561F	CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	561							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTATAAAGTATATCCCCCAT	0.418																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1681-1683)tAt>tTt		chromosome X open reading frame 57							125.0	114.0	118.0					X																	105882865		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882865A>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1682A>T	X.37:g.105882865A>T	ENSP00000361628:p.Tyr561Phe					CXorf57_ENST00000372544.2_Intron	p.Y561F	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			9	1791	+			561					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1682A>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333798	0.60853	.	.	ENSG00000147231	ENST00000372548	T	0.72051	-0.62	5.19	2.64	0.31445	.	0.378827	0.30374	N	0.009771	T	0.66645	0.2810	M	0.65498	2.005	0.80722	D	1	B	0.33448	0.412	B	0.34931	0.192	T	0.64415	-0.6413	10	0.87932	D	0	-7.966	9.069	0.36480	0.7029:0.0:0.0:0.297	.	561	Q6NSI4	CX057_HUMAN	F	561	ENSP00000361628:Y561F	ENSP00000361628:Y561F	Y	+	2	0	CXorf57	105769521	0.998000	0.40836	0.684000	0.30055	0.803000	0.45373	2.614000	0.46359	0.278000	0.22164	-0.554000	0.04202	TAT		0.418	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		4	141	0	0	0	1	0	4	141				
ABCF3	55324	broad.mit.edu	37	3	183908941	183908941	+	Silent	SNP	G	G	A	rs182234232	byFrequency	TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.P483P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTTCTCGCCGCCAATTCTGC	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0					ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1465-1467)ccG>ccA		ATP-binding cassette, sub-family F (GCN20), member 3		G		1,4405	4.2+/-10.8	0,1,2202	154.0	146.0	149.0		1467	-5.9	0.7	3		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCF3	NM_018358.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		489/710	183908941	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183908941G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1467G>A	3.37:g.183908941G>A						EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.P483P	p.P489P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1652	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		489					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.1467G>A	CCDS3254.1																																																																																				0.567	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		4	148	0	0	0	1	0	4	148				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			23	37	0	0	0	1	0	23	37				
SPEF2	79925	broad.mit.edu	37	5	35700785	35700785	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:35700785G>A	ENST00000356031.3	+	16	2483	c.2329G>A	c.(2329-2331)Gca>Aca	p.A777T	SPEF2_ENST00000509059.1_Missense_Mutation_p.A772T|SPEF2_ENST00000440995.2_Missense_Mutation_p.A772T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	777					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCTCTCCTGCATTTGATTT	0.368																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2314-2316)Gca>Aca		sperm flagellar 2							119.0	108.0	111.0					5																	35700785		1842	4089	5931	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700785G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2329G>A	5.37:g.35700785G>A	ENSP00000348314:p.Ala777Thr					SPEF2_ENST00000509059.1_Missense_Mutation_p.A772T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.A777T	p.A772T			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2314	+	all_lung(31;7.56e-05)		777					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2314G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371873	0.82573	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.79	4.92	0.64577	.	0.461168	0.22223	N	0.062940	T	0.41743	0.1172	M	0.73598	2.24	0.80722	D	1	P;P;P	0.52316	0.952;0.873;0.799	P;P;B	0.47075	0.536;0.523;0.323	T	0.45338	-0.9268	10	0.66056	D	0.02	.	12.7529	0.57318	0.0768:0.0:0.9232:0.0	.	772;772;777	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	T	777;772;772;283	ENSP00000348314:A777T;ENSP00000421593:A772T;ENSP00000412125:A772T;ENSP00000421744:A283T	ENSP00000348314:A777T	A	+	1	0	SPEF2	35736542	1.000000	0.71417	0.787000	0.31911	0.920000	0.55202	3.873000	0.56093	1.441000	0.47550	0.650000	0.86243	GCA		0.368	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		4	43	0	0	0	1	0	4	43				
SLC7A5	8140	broad.mit.edu	37	16	87870115	87870115	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:87870115G>A	ENST00000261622.4	-	8	1344	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.R161W	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	427					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TTGATGGGCCGCTCAAGCTCA	0.622																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1279-1281)Cgg>Tgg		solute carrier family 7 (amino acid transporter light chain, L system), member 5							61.0	60.0	60.0					16																	87870115		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87870115G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1279C>T	16.37:g.87870115G>A	ENSP00000261622:p.Arg427Trp					SLC7A5_ENST00000565644.1_Missense_Mutation_p.R161W	p.R427W	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	8	1344	-			427					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1279C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754590	0.69648	.	.	ENSG00000103257	ENST00000261622	D	0.92249	-3.0	5.18	3.03	0.35002	.	0.052502	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97465	4.01	0.58432	D	0.999995	D	0.69078	0.997	P	0.59643	0.861	D	0.96819	0.9602	10	0.87932	D	0	.	11.1468	0.48434	0.0:0.0:0.428:0.572	.	427	Q01650	LAT1_HUMAN	W	427	ENSP00000261622:R427W	ENSP00000261622:R427W	R	-	1	2	SLC7A5	86427616	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.666000	0.54540	1.158000	0.42547	0.650000	0.86243	CGG		0.622	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		3	47	0	0	0	1	0	3	47				
EXPH5	23086	broad.mit.edu	37	11	108382992	108382992	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:108382992C>T	ENST00000265843.4	-	6	3352	c.3242G>A	c.(3241-3243)tGt>tAt	p.C1081Y	EXPH5_ENST00000525344.1_Missense_Mutation_p.C1074Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C893Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.C1005Y|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1081					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTTTGGAACATTCATTCGC	0.433																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3241-3243)tGt>tAt		exophilin 5							109.0	110.0	110.0					11																	108382992		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382992C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3242G>A	11.37:g.108382992C>T	ENSP00000265843:p.Cys1081Tyr					EXPH5_ENST00000428840.1_Missense_Mutation_p.C1005Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C893Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1074Y	p.C1081Y	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3352	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1081					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3242G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259049	0.23051	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.06768	3.83;3.75;3.6;3.83;3.64;3.26	5.77	-6.21	0.02065	.	1.618080	0.02896	N	0.134806	T	0.05547	0.0146	L	0.35723	1.085	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.32402	-0.9908	10	0.30078	T	0.28	8.6965	0.0936	0.00042	0.3175:0.226:0.1945:0.262	.	1081	Q8NEV8	EXPH5_HUMAN	Y	1081;1005;893;1074;1005;893	ENSP00000265843:C1081Y;ENSP00000391966:C1005Y;ENSP00000411390:C893Y;ENSP00000432546:C1074Y;ENSP00000432683:C1005Y;ENSP00000446434:C893Y	ENSP00000265843:C1081Y	C	-	2	0	EXPH5	107888202	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.275000	0.08525	-1.744000	0.01338	-0.868000	0.02995	TGT		0.433	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		4	121	0	0	0	1	0	4	121				
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000420246.2_Missense_Mutation_p.R175G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM011013	TP53	M	rs138729528	c.(523-525)Cgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578407		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578407G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175G	p.R175G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	655	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.523C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	16	0	0	0	1	0	58	16				
MRPL51	51258	broad.mit.edu	37	12	6601513	6601513	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:6601513G>A	ENST00000229238.3	-	3	772	c.311C>T	c.(310-312)gCt>gTt	p.A104V	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Missense_Mutation_p.A8V	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	104					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						CAGGTCATCAGCGAACATTCT	0.438																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(310-312)gCt>gTt		mitochondrial ribosomal protein L51							314.0	305.0	308.0					12																	6601513		2203	4300	6503	SO:0001583	missense	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6601513G>A	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.311C>T	12.37:g.6601513G>A	ENSP00000229238:p.Ala104Val					MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Missense_Mutation_p.A8V	p.A104V	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			3	772	-			104					Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	ENST00000229238.3	37	c.311C>T	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	G	3.767	-0.048467	0.07407	.	.	ENSG00000111639	ENST00000229238	T	0.43688	0.94	5.32	-1.74	0.08056	.	1.987680	0.02120	N	0.055569	T	0.28466	0.0704	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05971	-1.0853	10	0.10377	T	0.69	-17.0557	3.9945	0.09551	0.4693:0.0:0.2954:0.2353	.	104	Q4U2R6	RM51_HUMAN	V	104	ENSP00000229238:A104V	ENSP00000229238:A104V	A	-	2	0	MRPL51	6471774	0.000000	0.05858	0.030000	0.17652	0.338000	0.28826	-0.106000	0.10890	-0.216000	0.10048	-0.379000	0.06801	GCT		0.438	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		12	274	0	0	0	1	0	12	274				
GLRA3	8001	broad.mit.edu	37	4	175565136	175565136	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:175565136G>A	ENST00000274093.3	-	10	1698	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	GLRA3_ENST00000340217.5_Missense_Mutation_p.T384I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	399					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GCCCTTTGGAGTCATGCCATC	0.478																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1195-1197)aCt>aTt		glycine receptor, alpha 3	Glycine(DB00145)						171.0	142.0	152.0					4																	175565136		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175565136G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1196C>T	4.37:g.175565136G>A	ENSP00000274093:p.Thr399Ile					GLRA3_ENST00000340217.5_Missense_Mutation_p.T384I	p.T399I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1698	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	399					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.1196C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332307	0.24167	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.83755	-1.76;-1.76	5.98	5.13	0.70059	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.471505	0.26800	N	0.022436	T	0.74854	0.3771	L	0.38175	1.15	0.19575	N	0.999968	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.0	T	0.66160	-0.5993	10	0.56958	D	0.05	.	9.2726	0.37681	0.0732:0.0:0.7822:0.1446	.	384;399	O75311-2;O75311	.;GLRA3_HUMAN	I	399;384	ENSP00000274093:T399I;ENSP00000345284:T384I	ENSP00000274093:T399I	T	-	2	0	GLRA3	175801711	0.706000	0.27856	0.267000	0.24556	0.190000	0.23558	3.856000	0.55964	1.509000	0.48786	0.591000	0.81541	ACT		0.478	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			23	123	0	0	0	1	0	23	123				
NKX2-2	4821	broad.mit.edu	37	20	21492938	21492938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr20:21492938G>A	ENST00000377142.4	-	2	801	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	149					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCGCTGCTGCCGAAAGCGC	0.672																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(445-447)Cag>Tag		NK2 homeobox 2							23.0	26.0	25.0					20																	21492938		2202	4299	6501	SO:0001587	stop_gained	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492938G>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.445C>T	20.37:g.21492938G>A	ENSP00000366347:p.Gln149*					NKX2-2-AS1_ENST00000549659.1_RNA	p.Q149*	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	801	-			149						Nonsense_Mutation	SNP	ENST00000377142.4	37	c.445C>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	38	6.930009	0.97944	.	.	ENSG00000125820	ENST00000377142	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.8583	0.88773	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000366347:Q149X	Q	-	1	0	NKX2-2	21440938	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.792000	0.99085	2.291000	0.77112	0.462000	0.41574	CAG		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			13	22	0	0	0	1	0	13	22				
CARD11	84433	broad.mit.edu	37	7	2968246	2968246	+	Silent	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1738-1740)gaC>gaT		caspase recruitment domain family, member 11							84.0	71.0	76.0					7																	2968246		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968246G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1740C>T	7.37:g.2968246G>A							p.D580D	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2143	-		Ovarian(82;0.0115)	580					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1740C>T	CCDS5336.2																																																																																				0.657	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		64	58	0	0	0	1	0	64	58				
FZD8	8325	broad.mit.edu	37	10	35929433	35929433	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:35929433G>T	ENST00000374694.1	-	1	929	c.925C>A	c.(925-927)Ccg>Acg	p.P309T	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	309					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCCGCTCCGGGTACTTGAAG	0.627																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(925-927)Ccg>Acg		frizzled family receptor 8							34.0	36.0	36.0					10																	35929433		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929433G>T	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.925C>A	10.37:g.35929433G>T	ENSP00000363826:p.Pro309Thr						p.P309T	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	929	-			309						Missense_Mutation	SNP	ENST00000374694.1	37	c.925C>A	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606654	0.46527	.	.	ENSG00000177283	ENST00000374694	D	0.91686	-2.89	3.16	3.16	0.36331	GPCR, family 2-like (1);	0.159555	0.41194	U	0.000940	D	0.97179	0.9078	H	0.97077	3.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98072	1.0399	10	0.87932	D	0	.	13.5284	0.61607	0.0:0.0:1.0:0.0	.	309	Q9H461	FZD8_HUMAN	T	309	ENSP00000363826:P309T	ENSP00000363826:P309T	P	-	1	0	FZD8	35969439	1.000000	0.71417	0.979000	0.43373	0.298000	0.27526	8.082000	0.89513	1.756000	0.51951	0.289000	0.19496	CCG		0.627	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		5	26	1	0	0.014758	1	0.0149886	5	26				
RNF121	55298	broad.mit.edu	37	11	71705781	71705781	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:71705781G>A	ENST00000361756.3	+	7	1005	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000545854.1_Missense_Mutation_p.G134D|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	215						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCGAGTCGGGCATGCCTACC	0.493																																						ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(643-645)gGc>gAc		ring finger protein 121							262.0	216.0	231.0					11																	71705781		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71705781G>A	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.644G>A	11.37:g.71705781G>A	ENSP00000354571:p.Gly215Asp					RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D|RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.G134D	p.G215D	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			7	1005	+			215					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.644G>A	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265151	0.80358	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.71920	2.185	0.80722	D	1	P;B	0.34780	0.468;0.153	B;B	0.37780	0.258;0.062	T	0.01574	-1.1321	10	0.56958	D	0.05	-6.625	19.3531	0.94398	0.0:0.0:1.0:0.0	.	183;215	G3V148;Q9H920	.;RN121_HUMAN	D	215;55;134;183	ENSP00000354571:G215D;ENSP00000433574:G55D;ENSP00000443799:G134D;ENSP00000431286:G183D	ENSP00000354571:G215D	G	+	2	0	RNF121	71383429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.093000	0.94163	2.941000	0.99782	0.655000	0.94253	GGC		0.493	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		4	185	0	0	0	1	0	4	185				
MBTPS2	51360	broad.mit.edu	37	X	21886592	21886592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:21886592G>A	ENST00000379484.5	+	6	777	c.678G>A	c.(676-678)tgG>tgA	p.W226*	MBTPS2_ENST00000365779.2_Nonsense_Mutation_p.W226*	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	226			W -> L (in IFAPS; does not affect subcellular localization; impairs activity). {ECO:0000269|PubMed:19361614}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAGGTATCTGGCATAATTTTG	0.433																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(676-678)tgG>tgA		membrane-bound transcription factor peptidase, site 2							343.0	319.0	327.0					X																	21886592		2203	4300	6503	SO:0001587	stop_gained	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21886592G>A	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.678G>A	X.37:g.21886592G>A	ENSP00000368798:p.Trp226*					MBTPS2_ENST00000379484.5_Nonsense_Mutation_p.W226*	p.W226*			O43462	MBTP2_HUMAN			6	759	+			226		W -> L (in IFAPS; does not affect subcellular localization; impairs activity).			Q9UM70|Q9UMD3	Nonsense_Mutation	SNP	ENST00000379484.5	37	c.678G>A	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	G	37	6.140505	0.97320	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0167	18.9865	0.92773	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000368796:W226X	W	+	3	0	MBTPS2	21796513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.798000	0.85924	2.433000	0.82419	0.544000	0.68410	TGG		0.433	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			8	385	0	0	0	1	0	8	385				
PLAT	5327	broad.mit.edu	37	8	42044968	42044968	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:42044968C>T	ENST00000220809.4	-	6	743	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R|PLAT_ENST00000524009.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	163	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.G163R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GGCCTCCGCCCGCTGTAGGGC	0.652																																						ENST00000220809.4																			1	Substitution - Missense(1)	p.G163R(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(487-489)Ggg>Agg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						45.0	44.0	44.0					8																	42044968		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42044968C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.487G>A	8.37:g.42044968C>T	ENSP00000220809:p.Gly163Arg					PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R	p.G163R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	743	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	163			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.487G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942903	0.73672	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.202530	0.50627	D	0.000111	T	0.74489	0.3723	L	0.56199	1.76	0.29597	N	0.848019	D;D;D	0.64830	0.994;0.98;0.985	P;P;P	0.61132	0.833;0.559;0.884	T	0.69113	-0.5231	10	0.40728	T	0.16	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	163;117;163	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	R	163;163;163;117;163	ENSP00000270189:G163R;ENSP00000392045:G163R;ENSP00000220809:G163R;ENSP00000270188:G117R;ENSP00000428797:G163R	ENSP00000220809:G163R	G	-	1	0	PLAT	42164125	0.686000	0.27661	0.017000	0.16124	0.241000	0.25554	5.412000	0.66392	2.824000	0.97209	0.655000	0.94253	GGG		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		8	43	0	0	0	1	0	8	43				
FTSJ3	117246	broad.mit.edu	37	17	61901235	61901235	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:61901235G>T	ENST00000427159.2	-	13	1877	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTCTGCAATGGAAACCCCAGG	0.572																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1231-1233)tCc>tAc		FtsJ homolog 3 (E. coli)							127.0	112.0	117.0					17																	61901235		2203	4300	6503	SO:0001583	missense	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901235G>T	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"""SPB1 RNA methyltransferase homolog (S. cerevisiae)"""						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1232C>A	17.37:g.61901235G>T	ENSP00000396673:p.Ser411Tyr						p.S411Y	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			13	1877	-			411						Missense_Mutation	SNP	ENST00000427159.2	37	c.1232C>A	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262378	0.80358	.	.	ENSG00000108592	ENST00000427159	T	0.32988	1.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.46157	1.445	0.58432	D	0.99999	D	0.76494	0.999	D	0.83275	0.996	T	0.12630	-1.0540	10	0.02654	T	1	-15.9727	17.2626	0.87075	0.0:0.0:1.0:0.0	.	411	Q8IY81	RRMJ3_HUMAN	Y	411	ENSP00000396673:S411Y	ENSP00000396673:S411Y	S	-	2	0	FTSJ3	59254967	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.115000	0.94336	2.941000	0.99782	0.655000	0.94253	TCC		0.572	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1			53	103	1	0	1.4374e-25	1	1.61088e-25	53	103				
TBL3	10607	broad.mit.edu	37	16	2024560	2024560	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:2024560G>C	ENST00000568546.1	+	5	387	c.259G>C	c.(259-261)Gca>Cca	p.A87P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	87					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCAGTCGGGCATTGCTGCT	0.657																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(259-261)Gca>Cca		transducin (beta)-like 3							42.0	47.0	45.0					16																	2024560		2198	4299	6497	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024560G>C	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.259G>C	16.37:g.2024560G>C	ENSP00000454836:p.Ala87Pro						p.A87P	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			5	387	+			87					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.259G>C	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852941	0.91355	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.458670	0.24499	N	0.038000	T	0.79112	0.4391	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.82186	-0.0582	9	0.66056	D	0.02	-16.7081	16.9095	0.86137	0.0:0.0:1.0:0.0	.	87	Q12788	TBL3_HUMAN	P	87	.	ENSP00000331815:A87P	A	+	1	0	TBL3	1964561	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.458000	0.80787	2.213000	0.71641	0.561000	0.74099	GCA		0.657	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		17	40	0	0	0	1	0	17	40				
ING3	54556	broad.mit.edu	37	7	120604816	120604816	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:120604816G>C	ENST00000315870.5	+	5	436	c.288G>C	c.(286-288)aaG>aaC	p.K96N	ING3_ENST00000431467.1_Missense_Mutation_p.K81N	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	96					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTTGAGAAAGCTGGATCAGG	0.363																																						ENST00000315870.5																			0				NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12						c.(286-288)aaG>aaC		inhibitor of growth family, member 3							96.0	104.0	101.0					7																	120604816		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120604816G>C	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.288G>C	7.37:g.120604816G>C	ENSP00000320566:p.Lys96Asn					ING3_ENST00000431467.1_Missense_Mutation_p.K81N	p.K96N	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN			5	436	+	all_neural(327;0.117)		96					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.288G>C	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764466	0.69878	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	D;D	0.95622	-3.73;-3.76	5.49	5.49	0.81192	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	L	0.60455	1.87	0.58432	D	0.999998	D;D	0.76494	0.999;0.991	D;D	0.85130	0.997;0.987	D	0.95632	0.8690	10	0.72032	D	0.01	-23.3361	7.1707	0.25717	0.2071:0.0:0.7929:0.0	.	96;96	Q5GRH6;Q9NXR8	.;ING3_HUMAN	N	96;81	ENSP00000320566:K96N;ENSP00000388506:K81N	ENSP00000320566:K96N	K	+	3	2	ING3	120392052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.460000	0.35244	2.564000	0.86499	0.591000	0.81541	AAG		0.363	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		40	53	0	0	0	1	0	40	53				
CHRDL1	91851	broad.mit.edu	37	X	109924807	109924807	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:109924807C>G	ENST00000372045.1	-	10	1166	c.1035G>C	c.(1033-1035)gaG>gaC	p.E345D	CHRDL1_ENST00000218054.4_Missense_Mutation_p.E351D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E272D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E351D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E353D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E273D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E352D			Q9BU40	CRDL1_HUMAN	chordin-like 1	345					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGAATACAGACTCATACACAG	0.468																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(1051-1053)gaG>gaC		chordin-like 1							193.0	148.0	163.0					X																	109924807		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109924807C>G	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1035G>C	X.37:g.109924807C>G	ENSP00000361115:p.Glu345Asp					CHRDL1_ENST00000372042.1_Missense_Mutation_p.E353D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E345D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E351D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E273D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E272D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E352D	p.E351D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			10	1249	-			345					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.1053G>C		.	.	.	.	.	.	.	.	.	.	C	16.06	3.016488	0.54468	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.32272	2.2;1.46;2.2;2.2;2.47;1.46;2.2	4.97	2.23	0.28157	.	0.207417	0.48767	D	0.000162	T	0.34483	0.0899	L	0.27053	0.805	0.37255	D	0.906746	D;D;D;D;D;D	0.59767	0.986;0.984;0.984;0.984;0.984;0.984	D;D;D;D;D;D	0.69654	0.965;0.956;0.956;0.956;0.956;0.935	T	0.15838	-1.0423	9	.	.	.	-20.0612	7.7175	0.28712	0.0:0.4704:0.0:0.5296	.	273;352;332;345;353;272	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	D	345;272;351;351;353;273;352	ENSP00000361115:E345D;ENSP00000389627:E272D;ENSP00000218054:E351D;ENSP00000378276:E351D;ENSP00000361112:E353D;ENSP00000418443:E273D;ENSP00000399739:E352D	.	E	-	3	2	CHRDL1	109811463	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.520000	0.35899	0.209000	0.20645	0.538000	0.68166	GAG		0.468	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		4	176	0	0	0	1	0	4	176				
DPY19L2P2	349152	broad.mit.edu	37	7	102920404	102920404	+	RNA	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:102920404G>A	ENST00000312132.4	-	0	453							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACCACCTTTAGCTCCAAGCCT	0.632																																						ENST00000312132.4																			0																																																			0							g.chr7:102920404G>A	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102920404G>A														0	453	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.632	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		10	27	0	0	0	1	0	10	27				
LRRC37A11P	342666	broad.mit.edu	37	17	37199509	37199509	+	RNA	SNP	C	C	T	rs548615469	byFrequency	TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:37199509C>T	ENST00000425901.2	+	0	2662					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AGGCCTGGCACGGAATGCAGT	0.358													c|||	4	0.000798722	0.0	0.0	5008	,	,		19746	0.004		0.0	False		,,,				2504	0.0					ENST00000425901.2																			0																																																			0							g.chr17:37199509C>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37199509C>T								NR_033753.2						0	2662	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.358	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		5	95	0	0	0	1	0	5	95				
CYLC1	1538	broad.mit.edu	37	X	83129568	83129568	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:83129568T>G	ENST00000329312.4	+	4	1889	c.1852T>G	c.(1852-1854)Tca>Gca	p.S618A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	618	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCTCTACCATCACCAAAGGT	0.428																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1852-1854)Tca>Gca		cylicin, basic protein of sperm head cytoskeleton 1							72.0	61.0	65.0					X																	83129568		2202	4299	6501	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129568T>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1852T>G	X.37:g.83129568T>G	ENSP00000331556:p.Ser618Ala						p.S618A	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1889	+			618			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1852T>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	3.399	-0.122677	0.06795	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.55052	0.54	3.48	0.966	0.19667	.	.	.	.	.	T	0.51822	0.1697	L	0.32530	0.975	0.09310	N	1	P;D	0.57257	0.949;0.979	P;P	0.61477	0.844;0.889	T	0.35919	-0.9769	9	0.39692	T	0.17	3.4886	4.8704	0.13629	0.0:0.2799:0.0:0.7201	.	618;618	P35663;F5H4V5	CYLC1_HUMAN;.	A	618	ENSP00000331556:S618A	ENSP00000331556:S618A	S	+	1	0	CYLC1	83016224	0.001000	0.12720	0.080000	0.20451	0.158000	0.22134	0.102000	0.15272	0.085000	0.17107	0.417000	0.27973	TCA		0.428	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		11	84	0	0	0	1	0	11	84				
UBE4A	9354	broad.mit.edu	37	11	118235895	118235895	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:118235895G>C	ENST00000431736.2	+	2	172	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	UBE4A_ENST00000252108.3_Missense_Mutation_p.E34Q					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCAAAAAGAGCAGCTGAA	0.438																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(100-102)Gag>Cag		ubiquitination factor E4A							60.0	63.0	62.0					11																	118235895		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118235895G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.100G>C	11.37:g.118235895G>C	ENSP00000387362:p.Glu34Gln					UBE4A_ENST00000431736.2_Missense_Mutation_p.E34Q	p.E34Q	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	231	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	34						Missense_Mutation	SNP	ENST00000431736.2	37	c.100G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561703	0.45590	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.44083	0.93;0.93	6.08	5.12	0.69794	.	0.205168	0.51477	D	0.000095	T	0.22742	0.0549	N	0.04880	-0.145	0.80722	D	1	B;B	0.12630	0.0;0.006	B;B	0.08055	0.001;0.003	T	0.08700	-1.0709	10	0.13470	T	0.59	-17.8856	16.0609	0.80838	0.0:0.2066:0.7933:0.0	.	34;34	Q14139;Q14139-2	UBE4A_HUMAN;.	Q	34	ENSP00000252108:E34Q;ENSP00000387362:E34Q	ENSP00000252108:E34Q	E	+	1	0	UBE4A	117741105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.771000	0.47670	2.894000	0.99253	0.591000	0.81541	GAG		0.438	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		19	9	0	0	0	1	0	19	9				
PCDH20	64881	broad.mit.edu	37	13	61987149	61987149	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr13:61987149C>G	ENST00000409186.1	-	5	3188	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q361H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	361	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAACTTTCTGACTGTAAG	0.433																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1081-1083)caG>caC		protocadherin 20							106.0	106.0	106.0					13																	61987149		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987149C>G	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1083G>C	13.37:g.61987149C>G	ENSP00000386653:p.Gln361His					PCDH20_ENST00000409204.4_Missense_Mutation_p.Q361H	p.Q361H			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3188	-		Breast(118;0.195)|Prostate(109;0.229)	334			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1083G>C	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945066	0.34283	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59364	0.27;0.27	5.68	3.94	0.45596	.	0.000000	0.64402	D	0.000018	T	0.47637	0.1456	L	0.35542	1.07	0.45946	D	0.99877	P	0.49696	0.927	P	0.45343	0.477	T	0.46456	-0.9190	10	0.48119	T	0.1	.	8.9795	0.35957	0.0:0.7789:0.0:0.2211	.	361	A8K1K9	.	H	361;361;107	ENSP00000387250:Q361H;ENSP00000386653:Q361H	ENSP00000351500:Q107H	Q	-	3	2	PCDH20	60885150	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.148000	0.31614	1.415000	0.47037	0.655000	0.94253	CAG		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		6	97	0	0	0	1	0	6	97				
SLC10A7	84068	broad.mit.edu	37	4	147431125	147431125	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:147431125G>A	ENST00000507030.1	-	3	259	c.260C>T	c.(259-261)aCa>aTa	p.T87I	SLC10A7_ENST00000335472.7_Missense_Mutation_p.T87I|SLC10A7_ENST00000432059.2_Missense_Mutation_p.T87I|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T87I|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T87I|SLC10A7_ENST00000511374.1_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	87					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAGCCATATTGTTGCTGGGAA	0.358																																						ENST00000432059.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.(259-261)aCa>aTa		solute carrier family 10, member 7							87.0	89.0	88.0					4																	147431125		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147431125G>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.260C>T	4.37:g.147431125G>A	ENSP00000421275:p.Thr87Ile					SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T87I|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000507030.1_Missense_Mutation_p.T87I|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T87I|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T87I	p.T87I			Q0GE19	NTCP7_HUMAN			3	506	-	all_hematologic(180;0.151)		87					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.260C>T	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873886	0.33069	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	5.47	0.80525	.	0.541421	0.22398	N	0.060594	T	0.24661	0.0598	N	0.00683	-1.26	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.002;0.005;0.003;0.002	T	0.20438	-1.0275	9	0.22109	T	0.4	-0.6446	17.8694	0.88807	0.0:0.0:1.0:0.0	.	87;87;87;87	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	I	87	.	ENSP00000334594:T87I	T	-	2	0	SLC10A7	147650575	1.000000	0.71417	0.955000	0.39395	0.983000	0.72400	8.396000	0.90190	2.729000	0.93468	0.655000	0.94253	ACA		0.358	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		30	50	0	0	0	1	0	30	50				
ACRC	93953	broad.mit.edu	37	X	70823728	70823728	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70823728A>T	ENST00000373695.1	+	7	1138	c.601A>T	c.(601-603)Agt>Tgt	p.S201C	ACRC_ENST00000373696.3_Missense_Mutation_p.S201C			Q96QF7	ACRC_HUMAN	acidic repeat containing	201	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CGACGACAACAGTGATGATTC	0.498																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(601-603)Agt>Tgt		acidic repeat containing							331.0	266.0	288.0					X																	70823728		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823728A>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.601A>T	X.37:g.70823728A>T	ENSP00000362799:p.Ser201Cys					ACRC_ENST00000373696.3_Missense_Mutation_p.S201C	p.S201C			Q96QF7	ACRC_HUMAN			7	1138	+	Renal(35;0.156)		201			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.601A>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	9.855	1.194785	0.22037	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.44083	0.93;0.93	.	.	.	.	.	.	.	.	T	0.28433	0.0703	N	0.08118	0	0.09310	N	0.999993	D	0.62365	0.991	P	0.52710	0.707	T	0.11767	-1.0574	8	0.48119	T	0.1	.	4.5048	0.11881	0.9993:0.0:7.0E-4:0.0	.	201	Q96QF7	ACRC_HUMAN	C	201	ENSP00000362800:S201C;ENSP00000362799:S201C	ENSP00000362799:S201C	S	+	1	0	ACRC	70740453	0.000000	0.05858	0.047000	0.18901	0.047000	0.14425	-0.004000	0.12878	0.069000	0.16605	0.069000	0.15389	AGT		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			171	252	0	0	0	1	0	171	252				
THOC2	57187	broad.mit.edu	37	X	122755191	122755191	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:122755191T>C	ENST00000245838.8	-	31	4064	c.4033A>G	c.(4033-4035)Act>Gct	p.T1345A	THOC2_ENST00000355725.4_Missense_Mutation_p.T1345A|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.T1230A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1345	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGGGGACAGTGGTCTTAAAT	0.378																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(4033-4035)Act>Gct		THO complex 2							247.0	221.0	229.0					X																	122755191		1874	4088	5962	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755191T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4033A>G	X.37:g.122755191T>C	ENSP00000245838:p.Thr1345Ala					THOC2_ENST00000355725.4_Missense_Mutation_p.T1345A|THOC2_ENST00000491737.1_Missense_Mutation_p.T1230A	p.T1345A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			31	4064	-			1345			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.4033A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.800943	0.00611	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.21191	2.02;2.02;2.02	5.32	0.69	0.18039	.	0.673385	0.14328	N	0.326574	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34650	-0.9820	9	.	.	.	0.2071	10.4224	0.44359	0.0:0.4951:0.0:0.5049	.	1345	Q8NI27	THOC2_HUMAN	A	1345;1345;1230	ENSP00000245838:T1345A;ENSP00000347959:T1345A;ENSP00000419795:T1230A	.	T	-	1	0	THOC2	122582872	0.001000	0.12720	0.341000	0.25589	0.716000	0.41182	-0.091000	0.11146	0.028000	0.15324	0.486000	0.48141	ACT		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			12	91	0	0	0	1	0	12	91				
ROBO1	6091	broad.mit.edu	37	3	78685148	78685148	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:78685148T>G	ENST00000464233.1	-	23	3261	c.3148A>C	c.(3148-3150)Atg>Ctg	p.M1050L	ROBO1_ENST00000495273.1_Missense_Mutation_p.M1005L|ROBO1_ENST00000436010.2_Missense_Mutation_p.M1011L|ROBO1_ENST00000467549.1_Intron	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1050					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGGTTTTCATCTCATTGATT	0.423																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3031-3033)Atg>Ctg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							116.0	117.0	117.0					3																	78685148		1998	4182	6180	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685148T>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3148A>C	3.37:g.78685148T>G	ENSP00000420321:p.Met1050Leu					ROBO1_ENST00000495273.1_Missense_Mutation_p.M1005L|ROBO1_ENST00000464233.1_Missense_Mutation_p.M1050L|ROBO1_ENST00000467549.1_Intron	p.M1011L			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	4028	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1050					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3031A>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717037	0.48622	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.59083	0.33;0.29;0.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	N	0.20766	0.605	0.58432	D	0.999993	P;B;B;B	0.38863	0.65;0.08;0.105;0.232	P;B;B;B	0.54140	0.743;0.048;0.023;0.176	T	0.56420	-0.7982	9	.	.	.	.	16.2551	0.82510	0.0:0.0:0.0:1.0	.	1014;1050;1005;1011	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	L	1011;1005;1050;1005;1054	ENSP00000406043:M1011L;ENSP00000420321:M1050L;ENSP00000420637:M1005L	.	M	-	1	0	ROBO1	78767838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.492000	0.81482	2.228000	0.72767	0.524000	0.50904	ATG		0.423	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		28	19	0	0	0	1	0	28	19				
ARHGAP6	395	broad.mit.edu	37	X	11157494	11157494	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:11157494G>C	ENST00000337414.4	-	13	3286	c.2414C>G	c.(2413-2415)cCc>cGc	p.P805R	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P602R|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P602R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	805					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCGTCGCGGGGGCTGCGGC	0.731																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2413-2415)cCc>cGc		Rho GTPase activating protein 6							6.0	6.0	6.0					X																	11157494		2100	4046	6146	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157494G>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2414C>G	X.37:g.11157494G>C	ENSP00000338967:p.Pro805Arg					ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P602R|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P602R	p.P805R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3286	-			805					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.2414C>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786072	0.31593	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.20738	2.06;2.06;2.05	5.01	3.26	0.37387	.	0.928838	0.09004	N	0.862619	T	0.11153	0.0272	N	0.08118	0	0.51767	D	0.999937	B;B	0.25521	0.128;0.128	B;B	0.17722	0.019;0.019	T	0.13045	-1.0524	10	0.17832	T	0.49	.	10.9899	0.47543	0.1566:0.0:0.8434:0.0	.	805;805	O43182;A8KAL3	RHG06_HUMAN;.	R	602;602;805	ENSP00000370112:P602R;ENSP00000302312:P602R;ENSP00000338967:P805R	ENSP00000302312:P602R	P	-	2	0	ARHGAP6	11067415	0.011000	0.17503	0.007000	0.13788	0.001000	0.01503	1.909000	0.39917	0.379000	0.24794	-0.873000	0.02984	CCC		0.731	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		9	4	0	0	0	1	0	9	4				
AMMECR1L	83607	broad.mit.edu	37	2	128631771	128631771	+	Missense_Mutation	SNP	T	T	C	rs188584936		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:128631771T>C	ENST00000272647.5	-	3	298	c.38A>G	c.(37-39)aAg>aGg	p.K13R	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K13R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	13										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGCTGCCAACTTGGGCTCGAG	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		20186	0.001		0.0	False		,,,				2504	0.0					ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(37-39)aAg>aGg		AMMECR1-like							97.0	77.0	84.0					2																	128631771		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631771T>C		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.38A>G	2.37:g.128631771T>C	ENSP00000272647:p.Lys13Arg					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K13R	p.K13R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	298	-	Colorectal(110;0.1)		13					B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.38A>G	CCDS2152.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	17.63	3.438193	0.62955	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.37	4.22	0.49857	.	0.065715	0.64402	N	0.000007	T	0.58991	0.2161	N	0.19112	0.55	0.48632	D	0.999688	P	0.46578	0.88	P	0.62184	0.899	T	0.61476	-0.7055	9	0.66056	D	0.02	0.0	10.8927	0.47004	0.0:0.074:0.0:0.926	.	13	Q6DCA0	AMERL_HUMAN	R	13	.	ENSP00000272647:K13R	K	-	2	0	AMMECR1L	128348241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.843000	0.69424	0.884000	0.36064	0.482000	0.46254	AAG		0.502	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		11	33	0	0	0	1	0	11	33				
VGLL2	245806	broad.mit.edu	37	6	117589627	117589627	+	Missense_Mutation	SNP	G	G	C	rs534317857		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:117589627G>C	ENST00000326274.5	+	2	554	c.364G>C	c.(364-366)Gca>Cca	p.A122P	VGLL2_ENST00000352536.3_Missense_Mutation_p.A122P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	122					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CAGCAGCAAAGCACCAAGGAG	0.592																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(364-366)Gca>Cca		vestigial like 2 (Drosophila)							27.0	26.0	26.0					6																	117589627		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117589627G>C	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.364G>C	6.37:g.117589627G>C	ENSP00000320957:p.Ala122Pro					VGLL2_ENST00000352536.3_Missense_Mutation_p.A122P	p.A122P	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	554	+			122					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.364G>C	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421437	0.25639	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.47869	0.83	5.43	-1.32	0.09201	.	1.004280	0.08023	N	0.992282	T	0.17238	0.0414	L	0.36672	1.1	0.22468	N	0.999073	P;B	0.35656	0.514;0.303	B;B	0.35688	0.208;0.091	T	0.26815	-1.0092	10	0.62326	D	0.03	-14.1615	6.611	0.22751	0.3323:0.0:0.4786:0.1891	.	122;122	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	P	122	ENSP00000320957:A122P	ENSP00000320957:A122P	A	+	1	0	VGLL2	117696320	0.433000	0.25562	0.026000	0.17262	0.291000	0.27294	0.244000	0.18124	-0.361000	0.08125	-0.797000	0.03246	GCA		0.592	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		9	35	0	0	0	1	0	9	35				
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	lincRNA	DEL	AAT	AAT	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246																																						ENST00000417039.1																			0																																																			0							g.chr2:38710017_38710019delAAT																													2.37:g.38710017_38710019delAAT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.246	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			6	12						6	12	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67047371	67047372	+	Frame_Shift_Del	DEL	AT	AT	-	rs144861717		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:67047371_67047372delAT	ENST00000315962.4	+	3	861_862	c.488_489delAT	c.(487-489)catfs	p.H163fs	TRIM55_ENST00000350034.4_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000276573.7_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000353317.5_Frame_Shift_Del_p.H163fs	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	163					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCCTCACTCATGTGTTCCAGA	0.584																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(487-489)cfs		tripartite motif containing 55			,,,	0,4264		0,0,2132					,,,	5.8	1.0			157	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	TRIM55	NM_184087.1,NM_184086.1,NM_184085.1,NM_033058.2	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047371_67047372delAT	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.488_489delAT	8.37:g.67047371_67047372delAT	ENSP00000323913:p.His163fs					TRIM55_ENST00000276573.7_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000350034.4_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000353317.5_Frame_Shift_Del_p.H163fs	p.H163fs	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	861_862	+		Lung NSC(129;0.138)|all_lung(136;0.221)	163					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Frame_Shift_Del	DEL	ENST00000315962.4	37	c.488_489delAT	CCDS6184.1																																																																																				0.584	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		17	127						17	127	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T	rs199551773|rs377599950		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49																																						ENST00000379992.2																			2	Substitution - Missense(2)	p.P410T(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1225-1230)aaccaafs		leucine rich repeat and Ig domain containing 2																																				SO:0001589	frameshift_variant	158038					integral to membrane		g.chr9:27949442_27949443insT	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228dupA	9.37:g.27949448_27949448dupT	ENSP00000369328:p.Pro410fs					LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.NQ409fs	p.NQ409fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1676_1677	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	409			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Ins	INS	ENST00000379992.2	37	c.1227_1228insA	CCDS6524.1																																																																																				0.490	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		26	111						26	111	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321928	66321928	+	RNA	DEL	A	A	-			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:66321928delA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						accctgtctcaaaaaaaaaaa	0.537																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321928delA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321928delA						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	DEL	ENST00000502692.1	37																																																																																						0.537	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		2	4						2	4	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73418883	73418883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr15:73418883delA	ENST00000339362.5	+	5	1297	c.850delA	c.(850-852)aaafs	p.K284fs	NEO1_ENST00000558964.1_Frame_Shift_Del_p.K284fs|NEO1_ENST00000560262.1_Frame_Shift_Del_p.K284fs|NEO1_ENST00000261908.6_Frame_Shift_Del_p.K284fs			Q92859	NEO1_HUMAN	neogenin 1	284	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TAAATGGATGAAAAATGAGGA	0.423																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(850-852)aafs		neogenin 1							134.0	107.0	116.0					15																	73418883		2198	4297	6495	SO:0001589	frameshift_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73418883delA	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.850delA	15.37:g.73418883delA	ENSP00000341198:p.Lys284fs					NEO1_ENST00000560262.1_Frame_Shift_Del_p.K284fs|NEO1_ENST00000261908.6_Frame_Shift_Del_p.K284fs|NEO1_ENST00000558964.1_Frame_Shift_Del_p.K284fs	p.K284fs			Q92859	NEO1_HUMAN			5	1297	+			284			Ig-like C2-type 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Frame_Shift_Del	DEL	ENST00000339362.5	37	c.850delA	CCDS10247.1																																																																																				0.423	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		11	54						11	54	---	---	---	---
TWSG1	57045	broad.mit.edu	37	18	9337233	9337234	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:9337233_9337234insT	ENST00000262120.5	+	2	197_198	c.6_7insT	c.(7-9)ttafs	p.L3fs	TWSG1_ENST00000581641.1_Frame_Shift_Ins_p.L3fs|RP11-888D10.3_ENST00000584509.1_lincRNA	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	3					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GAAACATGAAGTTACACTATGT	0.391																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(4-9)aatacafs		twisted gastrulation BMP signaling modulator 1																																				SO:0001589	frameshift_variant	57045							g.chr18:9337233_9337234insT	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.8dupT	18.37:g.9337235_9337235dupT	ENSP00000262120:p.Leu3fs					TWSG1_ENST00000581641.1_Frame_Shift_Ins_p.T3fs	p.T3fs	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			2	197_198	+			3					B2RE08|D3DUH9|Q8NBI7|Q96K46	Frame_Shift_Ins	INS	ENST00000262120.5	37	c.6_7insT	CCDS11844.1																																																																																				0.391	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			9	149						9	149	---	---	---	---
TPM3P9	147804	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555|rs398101275	byFrequency	TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:53946133delA	ENST00000424846.3	+	0	1130				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TCATGTTGTGAAAAAAAAAAT	0.348													|||unknown(HR)	3191	0.637181	0.6241	0.6614	5008	,	,		21949	0.4008		0.7127	False		,,,				2504	0.8037					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53946133delA			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53946133delA						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	DEL	ENST00000424846.3	37																																																																																						0.348	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		5	5						5	5	---	---	---	---
