#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
SPATA31D1	389763	broad.mit.edu	37	9	84608912	84608912	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:84608912C>T	ENST00000344803.2	+	4	3574	c.3527C>T	c.(3526-3528)gCa>gTa	p.A1176V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1176					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATGTGAAAGCAAGCACTTCC	0.393																																						ENST00000344803.2																			0											c.(3526-3528)gCa>gTa		SPATA31 subfamily D, member 1							56.0	54.0	55.0					9																	84608912		1866	4123	5989	SO:0001583	missense	389763							g.chr9:84608912C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3527C>T	9.37:g.84608912C>T	ENSP00000341988:p.Ala1176Val						p.A1176V	NM_001001670.2	NP_001001670.1					4	3574	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3527C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.278100	0.01410	.	.	ENSG00000214929	ENST00000344803	T	0.04758	3.56	3.01	-6.01	0.02199	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40098	-0.9581	9	0.07030	T	0.85	11.5154	0.9844	0.01443	0.3127:0.3536:0.2088:0.125	.	1176	Q6ZQQ2	F75D1_HUMAN	V	1176	ENSP00000341988:A1176V	ENSP00000341988:A1176V	A	+	2	0	FAM75D1	83798732	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.905000	0.04075	-3.610000	0.00132	-1.330000	0.01273	GCA		0.393	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	33	0	0	0	1	0	15	33				
CNGA4	1262	broad.mit.edu	37	11	6260439	6260439	+	Start_Codon_SNP	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:6260439G>A	ENST00000379936.2	+	1	118	c.3G>A	c.(1-3)atG>atA	p.M1I	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	1					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGAACCATGAGCCAGGACA	0.577																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(1-3)atG>atA		cyclic nucleotide gated channel alpha 4							162.0	152.0	155.0					11																	6260439		2201	4296	6497	SO:0001582	initiator_codon_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6260439G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.3G>A	11.37:g.6260439G>A	ENSP00000369268:p.Met1Ile					CNGA4_ENST00000533426.1_Intron	p.M1I	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	118	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	1						Translation_Start_Site	SNP	ENST00000379936.2	37	c.3G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854690	0.51376	.	.	ENSG00000132259	ENST00000379936	D	0.97303	-4.33	5.41	5.41	0.78517	.	0.175867	0.42964	D	0.000629	D	0.94918	0.8357	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	D	0.91653	0.5336	9	0.62326	D	0.03	.	14.5643	0.68165	0.0:0.0:1.0:0.0	.	1	Q8IV77	CNGA4_HUMAN	I	1	ENSP00000369268:M1I	ENSP00000369268:M1I	M	+	3	0	CNGA4	6217015	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.226000	0.58606	2.808000	0.96608	0.655000	0.94253	ATG		0.577	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	Missense_Mutation	19	54	0	0	0	1	0	19	54				
KIAA1841	84542	broad.mit.edu	37	2	61310292	61310292	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:61310292G>A	ENST00000402291.1	+	8	974	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	KIAA1841_ENST00000453873.1_Missense_Mutation_p.E245K|KIAA1841_ENST00000356719.2_Missense_Mutation_p.E245K|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E245K	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	245										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTTTTAGGTTGAACAGTGTAT	0.323																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(733-735)Gaa>Aaa		KIAA1841							91.0	86.0	88.0					2																	61310292		2203	4299	6502	SO:0001583	missense	84542							g.chr2:61310292G>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.733G>A	2.37:g.61310292G>A	ENSP00000385579:p.Glu245Lys					KIAA1841_ENST00000356719.2_Missense_Mutation_p.E245K|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E245K|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.E245K	p.E245K	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		8	974	+			245					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.733G>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411048	0.42817	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.16	5.16	0.70880	.	0.099118	0.64402	D	0.000002	T	0.25568	0.0622	L	0.52905	1.665	0.58432	D	0.999999	B;B;B	0.30584	0.286;0.22;0.138	B;B;B	0.32677	0.093;0.15;0.044	T	0.02560	-1.1141	10	0.36615	T	0.2	-19.9781	17.9833	0.89148	0.0:0.0:1.0:0.0	.	245;245;245	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	K	245	ENSP00000385579:E245K;ENSP00000295031:E245K;ENSP00000349154:E245K;ENSP00000416795:E245K	ENSP00000295031:E245K	E	+	1	0	KIAA1841	61163796	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.749000	0.85096	2.562000	0.86427	0.655000	0.94253	GAA		0.323	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		35	93	0	0	0	1	0	35	93				
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TACCAGGCCTGAGACGCCATT	0.637																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1255-1257)tCa>tGa		EPH receptor A2	Dasatinib(DB01254)						54.0	55.0	55.0					1																	16464404		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464404G>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1256C>G	1.37:g.16464404G>C	ENSP00000351209:p.Ser419*						p.S419*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1410	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	419			Fibronectin type-III 1.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1256C>G	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427317	0.97559	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.97	0.65823	.	0.139643	0.32703	N	0.005759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000351209:S419X	S	-	2	0	EPHA2	16336991	1.000000	0.71417	0.996000	0.52242	0.536000	0.34869	9.869000	0.99810	2.488000	0.83962	0.561000	0.74099	TCA		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		24	79	0	0	0	1	0	24	79				
PENK	5179	broad.mit.edu	37	8	57354478	57354478	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:57354478C>T	ENST00000314922.3	-	2	233	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.E53K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	53					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGTTTACCTTCACATTCCATT	0.423																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(157-159)Gaa>Aaa		proenkephalin							59.0	63.0	62.0					8																	57354478		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354478C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.157G>A	8.37:g.57354478C>T	ENSP00000324248:p.Glu53Lys					PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.E53K	p.E53K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	233	-		all_lung(136;0.229)	53					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.157G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611246	0.46631	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.76060	-0.99;-0.99;0.66	5.94	4.16	0.48862	.	0.185916	0.56097	N	0.000027	D	0.85270	0.5658	M	0.82630	2.6	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.86210	0.1624	10	0.87932	D	0	-17.3088	11.4674	0.50248	0.0:0.8068:0.1258:0.0675	.	53	P01210	PENK_HUMAN	K	53	ENSP00000324248:E53K;ENSP00000400894:E53K;ENSP00000428012:E53K	ENSP00000324248:E53K	E	-	1	0	PENK	57517032	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	3.913000	0.56394	0.873000	0.35799	-0.218000	0.12543	GAA		0.423	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			78	75	0	0	0	1	0	78	75				
TOP2A	7153	broad.mit.edu	37	17	38546327	38546327	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38546327G>C	ENST00000423485.1	-	34	4515	c.4357C>G	c.(4357-4359)Caa>Gaa	p.Q1453E	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1453					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCAGGCTTTTGAGAGACACCA	0.448																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(4357-4359)Caa>Gaa		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						80.0	72.0	75.0					17																	38546327		1866	4101	5967	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38546327G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4357C>G	17.37:g.38546327G>C	ENSP00000411532:p.Gln1453Glu						p.Q1453E	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		34	4515	-		Breast(137;0.00328)	1453					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.4357C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536303	0.13188	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.39592	1.07	5.46	-6.21	0.02065	DTHCT (1);	0.882209	0.10176	N	0.706436	T	0.10852	0.0265	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43988	-0.9357	10	0.06891	T	0.86	.	10.3268	0.43798	0.0:0.3442:0.1419:0.5139	.	1453	P11388	TOP2A_HUMAN	E	1453;1533;1476;1490	ENSP00000411532:Q1453E	ENSP00000269577:Q1533E	Q	-	1	0	TOP2A	35799853	0.007000	0.16637	0.051000	0.19133	0.527000	0.34593	-0.157000	0.10085	-0.523000	0.06409	-0.282000	0.10007	CAA		0.448	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			15	25	0	0	0	1	0	15	25				
IGHV4-39	28394	broad.mit.edu	37	14	106877714	106877714	+	RNA	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106877714G>C	ENST00000390619.2	-	0	329									immunoglobulin heavy variable 4-39																		ATGGTGACTCGACTCTTGAGG	0.567																																						ENST00000390619.2																			0																				155.0	126.0	135.0					14																	106877714		1925	4138	6063			28394							g.chr14:106877714G>C	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877714G>C														0	329	-									RNA	SNP	ENST00000390619.2	37																																																																																						0.567	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		64	369	0	0	0	1	0	64	369				
LOXL3	84695	broad.mit.edu	37	2	74761274	74761274	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:74761274G>T	ENST00000264094.3	-	12	2100	c.2029C>A	c.(2029-2031)Cag>Aag	p.Q677K	LOXL3_ENST00000409986.1_Missense_Mutation_p.Q532K|LOXL3_ENST00000393937.2_Missense_Mutation_p.Q532K|LOXL3_ENST00000409549.1_Missense_Mutation_p.Q621K|LOXL3_ENST00000409249.1_Missense_Mutation_p.Q395K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	677	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCAATCCACTGACAGTCAATG	0.527																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(2029-2031)Cag>Aag		lysyl oxidase-like 3							106.0	99.0	101.0					2																	74761274		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74761274G>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.2029C>A	2.37:g.74761274G>T	ENSP00000264094:p.Gln677Lys					LOXL3_ENST00000393937.2_Missense_Mutation_p.Q532K|LOXL3_ENST00000409249.1_Missense_Mutation_p.Q395K|LOXL3_ENST00000409549.1_Missense_Mutation_p.Q621K|LOXL3_ENST00000409986.1_Missense_Mutation_p.Q532K	p.Q677K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			12	2100	-			677			Lysyl-oxidase like.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.2029C>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050416	0.75960	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	H	0.95151	3.63	0.58432	D	0.999999	D;D;D;D	0.89917	0.988;0.997;1.0;0.991	D;D;D;D	0.85130	0.987;0.997;0.996;0.982	T	0.80478	-0.1365	10	0.87932	D	0	.	15.2928	0.73879	0.0:0.0:1.0:0.0	.	532;621;532;677	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	K	677;395;532;621;532	ENSP00000264094:Q677K;ENSP00000387103:Q395K;ENSP00000377512:Q532K;ENSP00000386696:Q621K;ENSP00000386545:Q532K	ENSP00000264094:Q677K	Q	-	1	0	LOXL3	74614782	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.620000	0.98373	2.541000	0.85698	0.563000	0.77884	CAG		0.527	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		31	56	1	0	7.01153e-11	1	7.27283e-11	31	56				
CUL2	8453	broad.mit.edu	37	10	35360215	35360215	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:35360215C>G	ENST00000374748.1	-	3	344	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CUL2_ENST00000374742.1_Missense_Mutation_p.D11H|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374749.3_Missense_Mutation_p.D11H|CUL2_ENST00000374751.3_Missense_Mutation_p.D11H|CUL2_ENST00000537177.1_Missense_Mutation_p.D30H|CUL2_ENST00000374746.1_Missense_Mutation_p.D11H			Q13617	CUL2_HUMAN	cullin 2	11					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGTTTCATCAAAATCTACT	0.348																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(31-33)Gat>Cat		cullin 2							131.0	107.0	115.0					10																	35360215		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35360215C>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.31G>C	10.37:g.35360215C>G	ENSP00000363880:p.Asp11His					CUL2_ENST00000374751.3_Missense_Mutation_p.D11H|CUL2_ENST00000537177.1_Missense_Mutation_p.D30H|CUL2_ENST00000374746.1_Missense_Mutation_p.D11H|CUL2_ENST00000374742.1_Missense_Mutation_p.D11H|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374749.3_Missense_Mutation_p.D11H	p.D11H			Q13617	CUL2_HUMAN			3	344	-			11					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.31G>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088085	0.94100	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.92	5.92	0.95590	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	L	0.57536	1.79	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.996	P;D;P	0.65773	0.868;0.938;0.868	T	0.57579	-0.7787	10	0.87932	D	0	-28.3853	20.3206	0.98668	0.0:1.0:0.0:0.0	.	11;30;11	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	H	11;11;11;11;11;30;11	ENSP00000363883:D11H;ENSP00000363880:D11H;ENSP00000363878:D11H;ENSP00000363881:D11H;ENSP00000363874:D11H;ENSP00000444856:D30H;ENSP00000414095:D11H	ENSP00000363874:D11H	D	-	1	0	CUL2	35400221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.809000	0.96659	0.655000	0.94253	GAT		0.348	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		32	64	0	0	0	1	0	32	64				
MED31	51003	broad.mit.edu	37	17	6553733	6553733	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:6553733G>C	ENST00000225728.3	-	2	154	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	MED31_ENST00000575197.1_Missense_Mutation_p.R17G|MED31_ENST00000574128.1_5'UTR|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	17					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						AACTGAAACCGAAGTCGATTT	0.348																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.(49-51)Cgg>Ggg		mediator complex subunit 31							113.0	108.0	110.0					17																	6553733		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553733G>C	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.49C>G	17.37:g.6553733G>C	ENSP00000225728:p.Arg17Gly					MED31_ENST00000575197.1_Missense_Mutation_p.R17G|MED31_ENST00000574128.1_5'UTR	p.R17G	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			2	154	-			17					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.49C>G	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162057	0.78226	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	H	0.95850	3.73	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.90695	0.4616	9	0.87932	D	0	-2.9953	17.7323	0.88382	0.0:0.0:1.0:0.0	.	17	Q9Y3C7	MED31_HUMAN	G	17	.	ENSP00000225728:R17G	R	-	1	2	MED31	6494457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.250000	0.89835	2.868000	0.98415	0.557000	0.71058	CGG		0.348	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		79	199	0	0	0	1	0	79	199				
SLC46A1	113235	broad.mit.edu	37	17	26722953	26722953	+	3'UTR	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:26722953G>C	ENST00000440501.1	-	0	5194				SARM1_ENST00000457710.3_Missense_Mutation_p.K617N|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GCTGCGGCAAGAACATTGTGC	0.537																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1849-1851)aaG>aaC		sterile alpha and TIR motif containing 1							95.0	88.0	90.0					17																	26722953		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26722953G>C	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3719C>G	17.37:g.26722953G>C						SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000440501.1_3'UTR	p.K617N	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	8	2322	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		651			TIR.		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.1851G>C		.	.	.	.	.	.	.	.	.	.	G	26.4	4.733617	0.89482	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	4.82	4.82	0.62117	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.81346	-0.0974	8	0.48119	T	0.1	-30.5378	17.9133	0.88940	0.0:0.0:1.0:0.0	.	651	Q6SZW1	SARM1_HUMAN	N	649;617	.	ENSP00000003834:K617N	K	+	3	2	SARM1	23747080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.765000	0.74965	2.227000	0.72691	0.561000	0.74099	AAG		0.537	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		34	90	0	0	0	1	0	34	90				
TRPM5	29850	broad.mit.edu	37	11	2443494	2443494	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:2443494C>G	ENST00000155858.6	-	2	183	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	TRPM5_ENST00000452833.1_Missense_Mutation_p.E59Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.E59Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E59Q	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTGCCACTCAGCAAGCAGC	0.662																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(175-177)Gag>Cag		transient receptor potential cation channel, subfamily M, member 5							51.0	55.0	54.0					11																	2443494		2201	4299	6500	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2443494C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.175G>C	11.37:g.2443494C>G	ENSP00000155858:p.Glu59Gln					TRPM5_ENST00000533060.1_Missense_Mutation_p.E59Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.E59Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E59Q	p.E59Q			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	183	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	59						Missense_Mutation	SNP	ENST00000155858.6	37	c.175G>C	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	c	4.859	0.159733	0.09287	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	2.64	1.72	0.24424	.	0.098101	0.41396	U	0.000883	T	0.42630	0.1211	L	0.43701	1.375	0.25344	N	0.988925	B;B;B	0.20459	0.045;0.045;0.025	B;B;B	0.20184	0.028;0.028;0.025	T	0.22034	-1.0228	10	0.33141	T	0.24	-12.663	5.2968	0.15756	0.0:0.8365:0.0:0.1635	.	59;59;59	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	51;59;59;59;59;59	ENSP00000434383:E51Q;ENSP00000155858:E59Q;ENSP00000387965:E59Q;ENSP00000434121:E59Q;ENSP00000436809:E59Q	ENSP00000155858:E59Q	E	-	1	0	TRPM5	2400070	0.063000	0.20901	0.680000	0.29994	0.397000	0.30659	0.306000	0.19279	0.694000	0.31654	0.586000	0.80456	GAG		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		33	73	0	0	0	1	0	33	73				
NDUFS2	4720	broad.mit.edu	37	1	161183707	161183707	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:161183707C>T	ENST00000367993.3	+	14	1798	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000392179.4_Silent_p.I450I|FCER1G_ENST00000289902.1_5'Flank|FCER1G_ENST00000367992.3_5'Flank	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	450					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TCGTTGCCATCATAGGTACGA	0.493																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(1348-1350)atC>atT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						201.0	172.0	182.0					1																	161183707		2203	4300	6503	SO:0001819	synonymous_variant	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161183707C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1350C>T	1.37:g.161183707C>T						NDUFS2_ENST00000367993.3_Silent_p.I450I|NDUFS2_ENST00000465923.1_3'UTR	p.I450I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		13	1589	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		450					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.1350C>T	CCDS1224.1																																																																																				0.493	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		49	140	0	0	0	1	0	49	140				
FBXL6	26233	broad.mit.edu	37	8	145582012	145582012	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:145582012C>G	ENST00000331890.5	-	1	160	c.96G>C	c.(94-96)ccG>ccC	p.P32P	TMEM249_ENST00000531225.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.P32P|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	32	F-box.				protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGAGCCCCTCGGCGCCAGCC	0.776																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(94-96)ccG>ccC		F-box and leucine-rich repeat protein 6							4.0	5.0	4.0					8																	145582012		1350	3021	4371	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145582012C>G	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.96G>C	8.37:g.145582012C>G						FBXL6_ENST00000455319.2_Silent_p.P32P	p.P32P	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		1	160	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		32			F-box.		Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.96G>C	CCDS6422.1																																																																																				0.776	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		4	15	0	0	0	1	0	4	15				
SPAG9	9043	broad.mit.edu	37	17	49157043	49157043	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:49157043G>C	ENST00000262013.7	-	2	534	c.326C>G	c.(325-327)tCt>tGt	p.S109C	SPAG9_ENST00000505279.1_Missense_Mutation_p.S109C|SPAG9_ENST00000357122.4_Missense_Mutation_p.S109C|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	109					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTTCTTGAGAGTCTTCAAA	0.318																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(325-327)tCt>tGt		sperm associated antigen 9							105.0	105.0	105.0					17																	49157043		2203	4299	6502	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49157043G>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.326C>G	17.37:g.49157043G>C	ENSP00000262013:p.Ser109Cys					SPAG9_ENST00000505279.1_Missense_Mutation_p.S109C|SPAG9_ENST00000357122.4_Missense_Mutation_p.S109C|RP11-481C4.1_ENST00000509833.1_RNA	p.S109C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		2	534	-			109					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.326C>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739662	0.69304	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.44881	0.91;0.91;0.91	5.19	5.19	0.71726	JNK/Rab-associated protein-1, N-terminal (1);	0.068324	0.64402	D	0.000011	T	0.53916	0.1826	L	0.40543	1.245	0.41496	D	0.988259	P;P;P	0.42357	0.777;0.708;0.771	P;P;P	0.55545	0.556;0.778;0.698	T	0.52917	-0.8511	10	0.52906	T	0.07	-0.8321	19.078	0.93171	0.0:0.0:1.0:0.0	.	109;109;109	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	C	109	ENSP00000262013:S109C;ENSP00000426900:S109C;ENSP00000349636:S109C	ENSP00000262013:S109C	S	-	2	0	SPAG9	46512042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.491000	0.73649	2.582000	0.87167	0.650000	0.86243	TCT		0.318	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		33	102	0	0	0	1	0	33	102				
ARHGEF1	9138	broad.mit.edu	37	19	42397372	42397372	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:42397372G>C	ENST00000354532.3	+	8	790	c.642G>C	c.(640-642)aaG>aaC	p.K214N	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.K229N|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.K196N|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.K181N|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.K214N	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	214	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACGAAGAAAAGAGGtgagggg	0.607																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(640-642)aaG>aaC		Rho guanine nucleotide exchange factor (GEF) 1							27.0	26.0	27.0					19																	42397372		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42397372G>C	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.642G>C	19.37:g.42397372G>C	ENSP00000346532:p.Lys214Asn					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.K181N|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.K214N|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.K229N|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.K196N	p.K214N			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	8	767	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	214			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.642G>C	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076580	0.55753	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	3.66	1.36	0.22044	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.065002	0.56097	D	0.000034	D	0.88720	0.6513	M	0.73217	2.22	0.36856	D	0.888142	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.996;0.999;1.0	D	0.86830	0.2010	10	0.87932	D	0	-17.6061	4.3076	0.10955	0.1388:0.2386:0.6225:0.0	.	196;229;181;214;274	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	N	214;181;250;229;196	ENSP00000346532:K214N;ENSP00000344429:K181N;ENSP00000337261:K229N;ENSP00000367394:K196N	ENSP00000323044:K250N	K	+	3	2	ARHGEF1	47089212	0.981000	0.34729	0.952000	0.39060	0.932000	0.56968	0.823000	0.27366	0.297000	0.22615	0.485000	0.47835	AAG		0.607	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		10	20	0	0	0	1	0	10	20				
TBC1D31	93594	broad.mit.edu	37	8	124105863	124105863	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:124105863C>T	ENST00000287380.1	+	5	642	c.552C>T	c.(550-552)ctC>ctT	p.L184L	TBC1D31_ENST00000522420.1_Silent_p.L79L|TBC1D31_ENST00000378080.2_Silent_p.L79L|TBC1D31_ENST00000521676.1_Silent_p.L79L|TBC1D31_ENST00000327098.5_Silent_p.L184L|TBC1D31_ENST00000309336.3_Silent_p.L184L	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	184						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										ATACCATCCTCAGCTGTTTTA	0.318																																						ENST00000287380.1																			0											c.(550-552)ctC>ctT		TBC1 domain family, member 31							92.0	93.0	93.0					8																	124105863		2203	4298	6501	SO:0001819	synonymous_variant	93594							g.chr8:124105863C>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.552C>T	8.37:g.124105863C>T						TBC1D31_ENST00000378080.2_Silent_p.L79L|TBC1D31_ENST00000327098.5_Silent_p.L184L|TBC1D31_ENST00000522420.1_Silent_p.L79L|TBC1D31_ENST00000309336.3_Silent_p.L184L|TBC1D31_ENST00000521676.1_Silent_p.L79L	p.L184L	NM_145647.3	NP_663622.2					5	642	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.552C>T	CCDS6338.1																																																																																				0.318	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		62	64	0	0	0	1	0	62	64				
SIRT7	51547	broad.mit.edu	37	17	79872537	79872537	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:79872537C>T	ENST00000328666.6	-	6	584	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	174	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCACTCCTCAGGTGGAGCC	0.642																																						ENST00000328666.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(520-522)ctG>ctA		sirtuin 7							78.0	70.0	73.0					17																	79872537		2203	4295	6498	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872537C>T	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.522G>A	17.37:g.79872537C>T							p.L174L	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	584	-	all_neural(118;0.0878)|Ovarian(332;0.12)		174			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.522G>A	CCDS11792.1																																																																																				0.642	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		27	78	0	0	0	1	0	27	78				
SCGB3A1	92304	broad.mit.edu	37	5	180017650	180017650	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:180017650C>T	ENST00000292641.3	-	2	318	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	secretoglobin, family 3A, member 1	81					negative regulation of cell growth (GO:0030308)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCCAGCTCAGCCACACAC	0.692																																						ENST00000292641.3																			0				large_intestine(1)|lung(2)	3						c.(241-243)Gag>Aag		secretoglobin, family 3A, member 1							15.0	19.0	17.0					5																	180017650		2184	4284	6468	SO:0001583	missense	92304				negative regulation of cell growth|regulation of cell proliferation	extracellular space	cytokine activity	g.chr5:180017650C>T	AF313458	CCDS4456.1	5q35.3	2013-09-19			ENSG00000161055	ENSG00000161055		"""Secretoglobins"""	18384	protein-coding gene	gene with protein product	"""cytokine high in normal-1"", ""pneumo secretory protein 2"""	606500				11682631, 11481438, 22155607	Standard	NM_052863		Approved	UGRP2, HIN-1, HIN1, LU105, PnSP-2	uc003mly.3	Q96QR1	OTTHUMG00000130936	ENST00000292641.3:c.241G>A	5.37:g.180017650C>T	ENSP00000292641:p.Glu81Lys						p.E81K	NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	318	-	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	81					Q96PL0	Missense_Mutation	SNP	ENST00000292641.3	37	c.241G>A	CCDS4456.1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.663371	0.67700	.	.	ENSG00000161055	ENST00000292641	T	0.00309	8.16	4.7	3.83	0.44106	.	0.117842	0.37577	N	0.002023	T	0.00300	0.0009	M	0.70595	2.14	0.24644	N	0.993553	P	0.34639	0.461	B	0.39562	0.303	T	0.21075	-1.0256	10	0.87932	D	0	-4.9391	9.0677	0.36473	0.0:0.8966:0.0:0.1034	.	81	Q96QR1	SG3A1_HUMAN	K	81	ENSP00000292641:E81K	ENSP00000292641:E81K	E	-	1	0	SCGB3A1	179950256	0.994000	0.37717	0.812000	0.32479	0.853000	0.48598	3.008000	0.49544	1.104000	0.41587	0.556000	0.70494	GAG		0.692	SCGB3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253533.2	NM_052863		5	5	0	0	0	1	0	5	5				
CCDC124	115098	broad.mit.edu	37	19	18054452	18054452	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:18054452C>G	ENST00000597436.1	+	5	707	c.600C>G	c.(598-600)ctC>ctG	p.L200L	CCDC124_ENST00000445755.2_Silent_p.L200L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	200					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						AACAGCTGCTCAAGAAGGAGT	0.617																																						ENST00000597436.1																			0				central_nervous_system(1)|kidney(2)	3						c.(598-600)ctC>ctG		coiled-coil domain containing 124							29.0	36.0	33.0					19																	18054452		2203	4300	6503	SO:0001819	synonymous_variant	115098						DNA binding	g.chr19:18054452C>G	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.600C>G	19.37:g.18054452C>G						CCDC124_ENST00000445755.2_Silent_p.L200L	p.L200L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN			5	707	+			200						Silent	SNP	ENST00000597436.1	37	c.600C>G	CCDS12369.1																																																																																				0.617	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		14	36	0	0	0	1	0	14	36				
ATAD3B	83858	broad.mit.edu	37	1	1421169	1421169	+	Missense_Mutation	SNP	G	G	A	rs138300243		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1421169G>A	ENST00000308647.7	+	9	1030	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	305						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGGTCAGCCGGCGGCTCCTC	0.647																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(913-915)cGg>cAg		ATPase family, AAA domain containing 3B		G	GLN/ARG	0,4406		0,0,2203	48.0	47.0	48.0		914	0.2	1.0	1	dbSNP_134	48	1,8589		0,1,4294	no	missense	ATAD3B	NM_031921.4	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	305/649	1421169	1,12995	2203	4295	6498	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421169G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.914G>A	1.37:g.1421169G>A	ENSP00000311766:p.Arg305Gln						p.R305Q	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	9	1030	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	305					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.914G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532357	0.27387	0.0	1.16E-4	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.93547	-3.24	2.26	0.244	0.15507	.	0.213426	0.47455	N	0.000230	D	0.84701	0.5530	L	0.41236	1.265	0.80722	D	1	B;B	0.31655	0.334;0.226	B;B	0.22152	0.038;0.017	T	0.73458	-0.3976	10	0.25751	T	0.34	.	4.6054	0.12374	0.6115:0.0:0.3885:0.0	.	259;305	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	Q	200;120;305	ENSP00000311766:R305Q	ENSP00000311766:R305Q	R	+	2	0	ATAD3B	1411032	1.000000	0.71417	0.953000	0.39169	0.022000	0.10575	1.607000	0.36836	0.274000	0.22072	0.205000	0.17691	CGG		0.647	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		27	61	0	0	0	1	0	27	61				
FOXD1	2297	broad.mit.edu	37	5	72743651	72743651	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:72743651G>A	ENST00000499003.3	-	1	701	c.537C>T	c.(535-537)ctC>ctT	p.L179L	FOXD1_ENST00000513595.1_5'Flank|RP11-79P5.2_ENST00000514661.1_lincRNA	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	179					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		AGCAGTCGTTGAGCGAGAGGT	0.632																																						ENST00000499003.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(535-537)ctC>ctT		forkhead box D1							71.0	86.0	81.0					5																	72743651		2203	4299	6502	SO:0001819	synonymous_variant	2297				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr5:72743651G>A	U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.537C>T	5.37:g.72743651G>A							p.L179L	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)	1	701	-		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)	179					Q12949	Silent	SNP	ENST00000499003.3	37	c.537C>T																																																																																					0.632	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		78	147	0	0	0	1	0	78	147				
EVI5L	115704	broad.mit.edu	37	19	7928439	7928439	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:7928439G>A	ENST00000270530.4	+	19	2432	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	EVI5L_ENST00000538904.2_Missense_Mutation_p.A757T	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	746					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGGCGTGGGCGCTGCCCTGCA	0.687																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(2236-2238)Gct>Act		ecotropic viral integration site 5-like							26.0	19.0	21.0					19																	7928439		2191	4287	6478	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7928439G>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2236G>A	19.37:g.7928439G>A	ENSP00000270530:p.Ala746Thr					EVI5L_ENST00000538904.2_Missense_Mutation_p.A757T	p.A746T	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			19	2432	+			746					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.2236G>A	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488619	0.44249	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05925	3.37;3.37	4.17	3.13	0.36017	.	0.000000	0.42682	D	0.000667	T	0.02888	0.0086	N	0.08118	0	0.31123	N	0.708663	B;B	0.26400	0.148;0.052	B;B	0.12156	0.007;0.003	T	0.27226	-1.0080	10	0.29301	T	0.29	-33.5647	7.2923	0.26372	0.1205:0.0:0.8795:0.0	.	757;746	B9A6I9;Q96CN4	.;EVI5L_HUMAN	T	746;757	ENSP00000270530:A746T;ENSP00000445905:A757T	ENSP00000270530:A746T	A	+	1	0	EVI5L	7834439	1.000000	0.71417	0.979000	0.43373	0.491000	0.33493	3.492000	0.53259	0.972000	0.38314	0.491000	0.48974	GCT		0.687	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		3	10	0	0	0	1	0	3	10				
TRIM54	57159	broad.mit.edu	37	2	27522228	27522228	+	Missense_Mutation	SNP	G	G	A	rs149008031	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:27522228G>A	ENST00000380075.2	+	3	797	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TRIM54_ENST00000296098.4_Missense_Mutation_p.G153S	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	153					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGTCTTCGGTGCCCACAA	0.542																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(457-459)Ggt>Agt		tripartite motif containing 54		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	72.0	61.0	64.0		457,457	5.6	0.7	2	dbSNP_134	64	0,8600		0,0,4300	no	missense,missense	TRIM54	NM_032546.3,NM_187841.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	153/401,153/359	27522228	1,13005	2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27522228G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.457G>A	2.37:g.27522228G>A	ENSP00000369415:p.Gly153Ser					TRIM54_ENST00000380075.2_Missense_Mutation_p.G153S	p.G153S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			3	727	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		153					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.457G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	35	5.423059	0.96111	2.27E-4	0.0	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.59906	0.23;0.23	5.57	5.57	0.84162	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.82892	-0.0232	10	0.72032	D	0.01	-19.506	17.0394	0.86484	0.0:0.0:1.0:0.0	.	153;153	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	S	153	ENSP00000369415:G153S;ENSP00000296098:G153S	ENSP00000296098:G153S	G	+	1	0	TRIM54	27375732	1.000000	0.71417	0.678000	0.29963	0.967000	0.64934	9.730000	0.98797	2.593000	0.87608	0.561000	0.74099	GGT		0.542	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		18	43	0	0	0	1	0	18	43				
METTL4	64863	broad.mit.edu	37	18	2539047	2539047	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:2539047G>C	ENST00000574538.1	-	9	2146	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	METTL4_ENST00000319888.6_3'UTR	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	457					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GCTGAAATTTGAGAACTTCAT	0.393																																						ENST00000574538.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1369-1371)ctC>ctG		methyltransferase like 4							100.0	100.0	100.0					18																	2539047		2203	4300	6503	SO:0001819	synonymous_variant	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2539047G>C		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1371C>G	18.37:g.2539047G>C						METTL4_ENST00000319888.6_3'UTR	p.L457L	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN			9	2146	-			457					B2RNA1|Q2TAA7|Q9H5U9	Silent	SNP	ENST00000574538.1	37	c.1371C>G	CCDS11826.1																																																																																				0.393	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		66	106	0	0	0	1	0	66	106				
ERF	2077	broad.mit.edu	37	19	42754669	42754669	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:42754669G>C	ENST00000222329.4	-	2	228	c.71C>G	c.(70-72)tCa>tGa	p.S24*	ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	24					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GATCTGCCTTGAGCCAGGGGA	0.637																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(70-72)tCa>tGa		Ets2 repressor factor							51.0	44.0	47.0					19																	42754669		2203	4300	6503	SO:0001587	stop_gained	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754669G>C	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.71C>G	19.37:g.42754669G>C	ENSP00000222329:p.Ser24*					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR	p.S24*	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			2	228	-		Prostate(69;0.00682)	24					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Nonsense_Mutation	SNP	ENST00000222329.4	37	c.71C>G	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456514	0.96223	.	.	ENSG00000105722	ENST00000222329	.	.	.	5.37	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2537	0.54611	0.0831:0.0:0.9169:0.0	.	.	.	.	X	24	.	ENSP00000222329:S24X	S	-	2	0	ERF	47446509	1.000000	0.71417	0.899000	0.35326	0.967000	0.64934	5.662000	0.68032	1.418000	0.47098	0.655000	0.94253	TCA		0.637	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		11	46	0	0	0	1	0	11	46				
KCNH3	23416	broad.mit.edu	37	12	49934893	49934893	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:49934893G>A	ENST00000257981.6	+	2	548	c.288G>A	c.(286-288)gaG>gaA	p.E96E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	96	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCAAGGCTGAGCTGATCCTGT	0.637																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(286-288)gaG>gaA		potassium voltage-gated channel, subfamily H (eag-related), member 3							40.0	39.0	39.0					12																	49934893		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49934893G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.288G>A	12.37:g.49934893G>A						KCNH3_ENST00000550434.1_3'UTR	p.E96E	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			2	548	+			96			PAC.		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.288G>A	CCDS8786.1																																																																																				0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		18	43	0	0	0	1	0	18	43				
FBXO45	200933	broad.mit.edu	37	3	196311148	196311148	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:196311148G>A	ENST00000311630.6	+	3	1117	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	FBXO45_ENST00000440469.1_Missense_Mutation_p.E95K	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	274	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGGCAACACAGAAGTGACTTT	0.443																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(820-822)Gaa>Aaa		F-box protein 45							116.0	111.0	112.0					3																	196311148		1911	4126	6037	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196311148G>A	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.820G>A	3.37:g.196311148G>A	ENSP00000310332:p.Glu274Lys					FBXO45_ENST00000440469.1_Missense_Mutation_p.E95K	p.E274K	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	1117	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		274			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.820G>A	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960295	0.92791	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.60424	0.19;0.19	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.88450	2.955	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	T	0.82643	-0.0356	10	0.62326	D	0.03	-16.5042	18.7709	0.91892	0.0:0.0:1.0:0.0	.	274	P0C2W1	FBSP1_HUMAN	K	95;274	ENSP00000389868:E95K;ENSP00000310332:E274K	ENSP00000310332:E274K	E	+	1	0	FBXO45	197795545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GAA		0.443	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			14	37	0	0	0	1	0	14	37				
ERCC5	2073	broad.mit.edu	37	13	103524680	103524680	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:103524680C>G	ENST00000355739.4	+	13	4234	c.2811C>G	c.(2809-2811)ctC>ctG	p.L937L	ERCC5_ENST00000375954.1_Silent_p.L170L|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Q1363E	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	937					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCCTACCTCAAACCCGTGG	0.448			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000602836.1			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E					0											c.(4087-4089)Caa>Gaa									84.0	80.0	81.0					13																	103524680		2203	4300	6503	SO:0001819	synonymous_variant	100533467		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103524680C>G	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2811C>G	13.37:g.103524680C>G						ERCC5_ENST00000375954.1_Silent_p.L170L|ERCC5_ENST00000355739.4_Silent_p.L937L	p.1363_1363insE	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			21	4087	+			0					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.4087C>G	CCDS32004.1																																																																																				0.448	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			17	64	0	0	0	1	0	17	64				
SLU7	10569	broad.mit.edu	37	5	159842151	159842151	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:159842151C>T	ENST00000297151.4	-	2	538	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	51					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCAACTTCTGCAGGAGCA	0.348																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(151-153)Gaa>Aaa		SLU7 splicing factor homolog (S. cerevisiae)							155.0	156.0	156.0					5																	159842151		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159842151C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.151G>A	5.37:g.159842151C>T	ENSP00000297151:p.Glu51Lys						p.E51K	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	538	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	51					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.151G>A	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406152	0.83230	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.47177	1.44;0.87;0.85	5.95	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.72894	2.215	0.80722	D	1	P	0.51351	0.944	B	0.42851	0.4	T	0.54002	-0.8358	10	0.38643	T	0.18	-11.7621	14.8883	0.70587	0.0:0.9316:0.0:0.0684	.	51	O95391	SLU7_HUMAN	K	51	ENSP00000297151:E51K;ENSP00000428943:E51K;ENSP00000429990:E51K	ENSP00000297151:E51K	E	-	1	0	SLU7	159774729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.268000	0.78473	1.521000	0.48983	0.650000	0.86243	GAA		0.348	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		25	69	0	0	0	1	0	25	69				
TSHZ1	10194	broad.mit.edu	37	18	73000281	73000281	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:73000281C>T	ENST00000580243.1	+	2	3267	c.2919C>T	c.(2917-2919)aaC>aaT	p.N973N	TSHZ1_ENST00000322038.5_Silent_p.N928N			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	973					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTTTTGCAACGATTGTGCCT	0.488																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2782-2784)aaC>aaT		teashirt zinc finger homeobox 1							115.0	93.0	101.0					18																	73000281		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000281C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2919C>T	18.37:g.73000281C>T						TSHZ1_ENST00000580243.1_Silent_p.N973N	p.N928N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3368	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	973					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2784C>T																																																																																					0.488	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		31	43	0	0	0	1	0	31	43				
NAV1	89796	broad.mit.edu	37	1	201757655	201757655	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:201757655G>A	ENST00000367296.4	+	10	3475	c.3055G>A	c.(3055-3057)Gag>Aag	p.E1019K	NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000295624.6_Missense_Mutation_p.E1019K|NAV1_ENST00000367295.1_Missense_Mutation_p.E628K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.E1019K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1019					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCACCCACGAGGCGGCCTT	0.637																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3055-3057)Gag>Aag		neuron navigator 1							115.0	111.0	113.0					1																	201757655		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757655G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3055G>A	1.37:g.201757655G>A	ENSP00000356265:p.Glu1019Lys					NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.E1019K|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.E628K|NAV1_ENST00000295624.6_Missense_Mutation_p.E1019K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Intron	p.E1019K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			10	3475	+			1019					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3055G>A	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.340324|4.340324	0.81911|0.81911	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T|.	0.08282|.	3.17;3.17;3.11;3.18|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.298040|.	0.34986|.	N|.	0.003530|.	T|T	0.61388|0.61388	0.2343|0.2343	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P;P;P;D;P|.	0.56287|.	0.901;0.733;0.789;0.975;0.83|.	B;B;B;B;B|.	0.42738|.	0.182;0.131;0.396;0.304;0.131|.	T|T	0.56019|0.56019	-0.8048|-0.8048	10|5	0.87932|.	D|.	0|.	-36.4612|-36.4612	18.7921|18.7921	0.91978|0.91978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1019;628;1019;527;1019|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	K|Q	1019;1019;1019;527;628|576	ENSP00000356265:E1019K;ENSP00000295624:E1019K;ENSP00000356266:E1019K;ENSP00000356264:E628K|.	ENSP00000295624:E1019K|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200024278|200024278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.589000|6.589000	0.74080|0.74080	2.526000|2.526000	0.85167|0.85167	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.637	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		51	127	0	0	0	1	0	51	127				
MAP1A	4130	broad.mit.edu	37	15	43818025	43818025	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:43818025G>A	ENST00000300231.5	+	4	4804	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1690K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1452K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1452					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATTCCAGAAGAGAAAGACAA	0.453																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(5068-5070)Gag>Aag		microtubule-associated protein 1A	Estramustine(DB01196)						74.0	75.0	74.0					15																	43818025		1861	4087	5948	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818025G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4354G>A	15.37:g.43818025G>A	ENSP00000300231:p.Glu1452Lys					MAP1A_ENST00000399453.1_Missense_Mutation_p.E1452K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E1452K	p.E1690K			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	5099	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1452		A -> S (in dbSNP:rs1060946).			O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5068G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	7.407	0.633954	0.14322	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02323	4.34;4.34;4.34	3.9	-0.446	0.12238	.	.	.	.	.	T	0.02888	0.0086	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44436	-0.9328	9	0.26408	T	0.33	1.1003	7.5816	0.27967	0.2536:0.5249:0.2215:0.0	.	1452	P78559	MAP1A_HUMAN	K	1690;1452;1452	ENSP00000371462:E1690K;ENSP00000382380:E1452K;ENSP00000300231:E1452K	ENSP00000300231:E1452K	E	+	1	0	MAP1A	41605317	0.000000	0.05858	0.007000	0.13788	0.122000	0.20287	-0.280000	0.08468	-0.287000	0.09064	-1.012000	0.02466	GAG		0.453	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		20	56	0	0	0	1	0	20	56				
DST	667	broad.mit.edu	37	6	56482994	56482994	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:56482994G>C	ENST00000370765.6	-	23	5945	c.5838C>G	c.(5836-5838)ctC>ctG	p.L1946L	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTTTCTCGAGTGGAGCCC	0.468																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5836-5838)ctC>ctG		dystonin							88.0	90.0	89.0					6																	56482994		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56482994G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5838C>G	6.37:g.56482994G>C						DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	p.L1946L	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5945	-	Lung NSC(77;0.103)		1343					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	c.5838C>G	CCDS4959.1																																																																																				0.468	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		26	64	0	0	0	1	0	26	64				
SMAP1	60682	broad.mit.edu	37	6	71501416	71501416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:71501416C>T	ENST00000370455.3	+	5	687	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	147					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TGCTCCTCTTCAGCCTTTGGT	0.403																																						ENST00000370455.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(439-441)Cag>Tag		small ArfGAP 1							177.0	165.0	169.0					6																	71501416		1910	4115	6025	SO:0001587	stop_gained	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71501416C>T	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.439C>T	6.37:g.71501416C>T	ENSP00000359484:p.Gln147*					SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	p.Q147*	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			5	687	+			147					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Nonsense_Mutation	SNP	ENST00000370455.3	37	c.439C>T	CCDS43478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.082839|6.082839	0.97267|0.97267	.|.	.|.	ENSG00000112305|ENSG00000112305	ENST00000370455;ENST00000370442;ENST00000445046|ENST00000439432	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	1.234840|.	0.05397|.	N|.	0.539908|.	.|T	.|0.69860	.|0.3158	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67511	.|-0.5652	.|4	0.21014|.	T|.	0.42|.	-1.0194|-1.0194	19.4785|19.4785	0.94998|0.94998	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	147;59;44|21	.|.	ENSP00000359471:Q59X|.	Q|S	+|+	1|2	0|0	SMAP1|SMAP1	71558137|71558137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.632000|5.632000	0.67819|0.67819	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.403	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		33	108	0	0	0	1	0	33	108				
NIF3L1	60491	broad.mit.edu	37	2	201758022	201758022	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:201758022G>A	ENST00000409020.1	+	3	784	c.490G>A	c.(490-492)Gag>Aag	p.E164K	NIF3L1_ENST00000359683.4_Missense_Mutation_p.E137K|NIF3L1_ENST00000409588.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000409357.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000416651.1_Missense_Mutation_p.E164K			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	164					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CTACCCTACAGAGGGAAACCA	0.463																																						ENST00000409020.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(490-492)Gag>Aag		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							110.0	105.0	107.0					2																	201758022		1847	4094	5941	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201758022G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.490G>A	2.37:g.201758022G>A	ENSP00000386394:p.Glu164Lys					NIF3L1_ENST00000409588.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000409357.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000416651.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000359683.4_Missense_Mutation_p.E137K	p.E164K			Q9GZT8	NIF3L_HUMAN			3	784	+			164					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.490G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399872	0.42613	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000409129;ENST00000374679;ENST00000409588	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.59	3.47	0.39725	.	0.528567	0.20118	N	0.098876	T	0.31765	0.0807	L	0.46741	1.465	0.09310	N	1	B;P	0.34615	0.033;0.459	B;B	0.34093	0.033;0.175	T	0.13098	-1.0522	10	0.11182	T	0.66	-6.3423	10.7142	0.46002	0.1758:0.0:0.8242:0.0	.	164;164	Q6X735;Q9GZT8	.;NIF3L_HUMAN	K	137;164;164;137;164;137;164;164	ENSP00000412761:E137K;ENSP00000400787:E164K;ENSP00000386394:E164K;ENSP00000352711:E137K;ENSP00000387315:E164K;ENSP00000387061:E137K;ENSP00000387021:E164K	ENSP00000352711:E137K	E	+	1	0	NIF3L1	201466267	0.995000	0.38212	0.964000	0.40570	0.929000	0.56500	3.094000	0.50227	1.378000	0.46305	0.563000	0.77884	GAG		0.463	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		51	106	0	0	0	1	0	51	106				
LLGL2	3993	broad.mit.edu	37	17	73568131	73568131	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:73568131G>C	ENST00000392550.3	+	19	2563	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.E816Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.E816Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	816					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGTCGTATCAGAGGAGCAGTT	0.637																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2446-2448)Gag>Cag		lethal giant larvae homolog 2 (Drosophila)							34.0	30.0	31.0					17																	73568131		2199	4299	6498	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73568131G>C	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2446G>C	17.37:g.73568131G>C	ENSP00000376333:p.Glu816Gln					LLGL2_ENST00000167462.5_Missense_Mutation_p.E816Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.E816Q	p.E816Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		19	2563	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		816					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2446G>C	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404570	0.42613	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.17691	2.26;2.38	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.996;0.998;1.0;1.0	T	0.56469	-0.7974	10	0.87932	D	0	1.4083	18.9172	0.92510	0.0:0.0:1.0:0.0	.	443;805;805;816;816	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	816;816;805	ENSP00000167462:E816Q;ENSP00000376333:E816Q	ENSP00000167462:E816Q	E	+	1	0	LLGL2	71079726	1.000000	0.71417	0.951000	0.38953	0.433000	0.31745	9.807000	0.99171	2.484000	0.83849	0.462000	0.41574	GAG		0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		10	18	0	0	0	1	0	10	18				
ETV2	2116	broad.mit.edu	37	19	36134282	36134282	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:36134282C>T	ENST00000403402.1	+	4	648	c.342C>T	c.(340-342)ctC>ctT	p.L114L	ETV2_ENST00000402764.2_Silent_p.L114L|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Silent_p.L142L|ETV2_ENST00000479824.1_Silent_p.L21L			O00321	ETV2_HUMAN	ets variant 2	114					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCCCCTCTCGGCCCGGGCC	0.756																																						ENST00000379026.2																			0				lung(2)	2						c.(424-426)ctC>ctT		ets variant 2							3.0	4.0	4.0					19																	36134282		1937	4008	5945	SO:0001819	synonymous_variant	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36134282C>T	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.342C>T	19.37:g.36134282C>T						ETV2_ENST00000479824.1_Silent_p.L21L|ETV2_ENST00000403402.1_Silent_p.L114L|ETV2_ENST00000402764.2_Silent_p.L114L|ETV2_ENST00000379023.4_Intron	p.L142L			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	865	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		114					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Silent	SNP	ENST00000403402.1	37	c.426C>T	CCDS32995.2																																																																																				0.756	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		4	2	0	0	0	1	0	4	2				
ZDHHC3	51304	broad.mit.edu	37	3	44974659	44974659	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:44974659G>A	ENST00000424952.2	-	5	829	c.561C>T	c.(559-561)ctC>ctT	p.L187L	ZDHHC3_ENST00000342790.4_Silent_p.L221L|ZDHHC3_ENST00000296127.3_Silent_p.L187L	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	187					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CCACCATGATGAGGGCGTGCA	0.517																																						ENST00000296127.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(559-561)ctC>ctT		zinc finger, DHHC-type containing 3							146.0	135.0	139.0					3																	44974659		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44974659G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.561C>T	3.37:g.44974659G>A						ZDHHC3_ENST00000342790.4_Silent_p.L221L|ZDHHC3_ENST00000424952.2_Silent_p.L187L	p.L187L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	5	834	-			187					Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.561C>T	CCDS46811.1																																																																																				0.517	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		36	35	0	0	0	1	0	36	35				
FGA	2243	broad.mit.edu	37	4	155507127	155507127	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:155507127G>A	ENST00000302053.3	-	5	1532	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	FGA_ENST00000403106.3_Missense_Mutation_p.S485F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	485					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCATCTTCGGAGGTCACCAC	0.502																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1453-1455)tCc>tTc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						154.0	150.0	151.0					4																	155507127		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507127G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1454C>T	4.37:g.155507127G>A	ENSP00000306361:p.Ser485Phe					FGA_ENST00000403106.3_Missense_Mutation_p.S485F	p.S485F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1532	-	all_hematologic(180;0.215)	Renal(120;0.0458)	485					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1454C>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375846	0.61735	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.63417	-0.04;-0.04	5.99	5.99	0.97316	Fibrinogen alpha C domain (1);	145.755000	0.00166	N	0.000000	D	0.83613	0.5292	M	0.73217	2.22	0.28017	N	0.934665	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.71672	-0.4522	10	0.87932	D	0	.	18.6582	0.91462	0.0:0.0:1.0:0.0	.	485;485	P02671-2;P02671	.;FIBA_HUMAN	F	485	ENSP00000306361:S485F;ENSP00000385981:S485F	ENSP00000306361:S485F	S	-	2	0	FGA	155726577	0.997000	0.39634	0.123000	0.21794	0.322000	0.28314	6.828000	0.75308	2.840000	0.97914	0.655000	0.94253	TCC		0.502	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		55	124	0	0	0	1	0	55	124				
CASKIN2	57513	broad.mit.edu	37	17	73498434	73498434	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:73498434C>T	ENST00000321617.3	-	18	3307	c.2721G>A	c.(2719-2721)ctG>ctA	p.L907L	CASKIN2_ENST00000433559.2_Silent_p.L825L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	907	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGTTCACTCAGTGTTCGCC	0.721																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2719-2721)ctG>ctA		CASK interacting protein 2							4.0	5.0	5.0					17																	73498434		1943	3914	5857	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498434C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2721G>A	17.37:g.73498434C>T						CASKIN2_ENST00000433559.2_Silent_p.L825L	p.L907L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3307	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		907			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2721G>A	CCDS11723.1																																																																																				0.721	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	5	0	0	0	1	0	4	5				
LYSMD1	388695	broad.mit.edu	37	1	151134465	151134465	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:151134465C>G	ENST00000368908.5	-	2	952	c.292G>C	c.(292-294)Gac>Cac	p.D98H	LYSMD1_ENST00000440902.2_Missense_Mutation_p.D50H	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	98										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTCAGAGTCCAAACCATTG	0.463																																						ENST00000368908.5																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(292-294)Gac>Cac		LysM, putative peptidoglycan-binding, domain containing 1							123.0	109.0	114.0					1																	151134465		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151134465C>G	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.292G>C	1.37:g.151134465C>G	ENSP00000357904:p.Asp98His					LYSMD1_ENST00000440902.2_Missense_Mutation_p.D50H	p.D98H	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	952	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		98					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.292G>C	CCDS986.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513654	0.44763	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.34472	1.43;1.36	5.82	5.82	0.92795	.	0.156002	0.56097	D	0.000029	T	0.30262	0.0759	M	0.63428	1.95	0.42460	D	0.992786	P;P	0.47191	0.891;0.826	P;B	0.47299	0.543;0.196	T	0.22765	-1.0207	10	0.62326	D	0.03	-4.4535	9.0333	0.36271	0.0:0.8433:0.0:0.1567	.	50;98	Q96S90-2;Q96S90	.;LYSM1_HUMAN	H	98;50	ENSP00000357904:D98H;ENSP00000404059:D50H	ENSP00000357904:D98H	D	-	1	0	LYSMD1	149401089	0.989000	0.36119	1.000000	0.80357	0.171000	0.22731	2.177000	0.42509	2.748000	0.94277	0.591000	0.81541	GAC		0.463	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		34	94	0	0	0	1	0	34	94				
DSG2	1829	broad.mit.edu	37	18	29116334	29116334	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:29116334C>G	ENST00000261590.8	+	11	1802	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	531					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTTCAGTTTCTCCGTCATTG	0.438																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1591-1593)ttC>ttG		desmoglein 2							73.0	71.0	72.0					18																	29116334		1917	4151	6068	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29116334C>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1593C>G	18.37:g.29116334C>G	ENSP00000261590:p.Phe531Leu						p.F531L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		11	1802	+			531					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1593C>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810267	0.50421	.	.	ENSG00000046604	ENST00000261590	T	0.64991	-0.13	5.89	3.77	0.43336	.	0.000000	0.64402	D	0.000006	T	0.78984	0.4370	M	0.87038	2.855	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81459	-0.0923	10	0.87932	D	0	.	9.5961	0.39576	0.0:0.7196:0.0:0.2804	.	531	Q14126	DSG2_HUMAN	L	531	ENSP00000261590:F531L	ENSP00000261590:F531L	F	+	3	2	DSG2	27370332	0.531000	0.26338	0.385000	0.26158	0.204000	0.24138	0.870000	0.28010	1.467000	0.48044	0.655000	0.94253	TTC		0.438	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		32	51	0	0	0	1	0	32	51				
SSH2	85464	broad.mit.edu	37	17	27959456	27959456	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:27959456G>A	ENST00000269033.3	-	15	2826	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	SSH2_ENST00000540801.1_Missense_Mutation_p.S919L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	892					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGACAATGAGGTACATGT	0.517																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2674-2676)tCa>tTa		slingshot protein phosphatase 2							171.0	176.0	174.0					17																	27959456		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959456G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2675C>T	17.37:g.27959456G>A	ENSP00000269033:p.Ser892Leu					SSH2_ENST00000540801.1_Missense_Mutation_p.S919L|RP11-68I3.2_ENST00000581474.1_RNA	p.S892L	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2826	-			892					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2675C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088130	0.55968	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.10099	2.91;2.91	5.97	5.97	0.96955	.	0.647404	0.15021	N	0.284988	T	0.13927	0.0337	L	0.44542	1.39	0.80722	D	1	B;B	0.26809	0.16;0.099	B;B	0.28232	0.087;0.04	T	0.02743	-1.1116	10	0.72032	D	0.01	-2.3485	15.9155	0.79512	0.0:0.0:1.0:0.0	.	919;892	F5H527;Q76I76	.;SSH2_HUMAN	L	892;919	ENSP00000269033:S892L;ENSP00000444743:S919L	ENSP00000269033:S892L	S	-	2	0	SSH2	24983582	0.309000	0.24518	0.655000	0.29622	0.994000	0.84299	4.924000	0.63418	2.838000	0.97847	0.579000	0.79373	TCA		0.517	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		102	233	0	0	0	1	0	102	233				
SPATA7	55812	broad.mit.edu	37	14	88893002	88893002	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:88893002G>C	ENST00000393545.4	+	6	1088	c.799G>C	c.(799-801)Gat>Cat	p.D267H	SPATA7_ENST00000556553.1_Missense_Mutation_p.D235H|SPATA7_ENST00000356583.5_Missense_Mutation_p.D235H|SPATA7_ENST00000045347.7_Missense_Mutation_p.D267H	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	267					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAGAAAAAAGGATTTTACAGA	0.353																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(703-705)Gat>Cat		spermatogenesis associated 7							39.0	40.0	40.0					14																	88893002		2198	4245	6443	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88893002G>C	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.799G>C	14.37:g.88893002G>C	ENSP00000377176:p.Asp267His					SPATA7_ENST00000045347.7_Missense_Mutation_p.D267H|SPATA7_ENST00000393545.4_Missense_Mutation_p.D267H|SPATA7_ENST00000356583.5_Missense_Mutation_p.D235H	p.D235H			Q9P0W8	SPAT7_HUMAN			6	1262	+			267					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.703G>C	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800260	0.50208	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.05	2.24	0.28232	.	0.944593	0.08946	N	0.870794	T	0.45756	0.1358	M	0.67953	2.075	0.28853	N	0.895927	D;D;D	0.89917	0.986;0.995;1.0	P;P;D	0.70016	0.824;0.789;0.967	T	0.24476	-1.0159	10	0.48119	T	0.1	-1.0004	7.9398	0.29952	0.3304:0.0:0.6696:0.0	.	235;235;267	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	H	235;267;235;267	ENSP00000451128:D235H;ENSP00000377176:D267H;ENSP00000348991:D235H;ENSP00000045347:D267H	ENSP00000045347:D267H	D	+	1	0	SPATA7	87962755	0.580000	0.26733	0.237000	0.24090	0.901000	0.52897	0.449000	0.21744	0.267000	0.21916	0.650000	0.86243	GAT		0.353	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			18	47	0	0	0	1	0	18	47				
ERRFI1	54206	broad.mit.edu	37	1	8074116	8074116	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:8074116G>A	ENST00000377482.5	-	4	766	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	181					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCTAAAAGGAAGTCTGTAT	0.463																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(541-543)ttC>ttT		ERBB receptor feedback inhibitor 1							68.0	71.0	70.0					1																	8074116		2203	4300	6503	SO:0001819	synonymous_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074116G>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.543C>T	1.37:g.8074116G>A						ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.F181F	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	766	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	181					B2RDX9|Q9NTG9|Q9UD05	Silent	SNP	ENST00000377482.5	37	c.543C>T	CCDS94.1																																																																																				0.463	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		25	72	0	0	0	1	0	25	72				
C12orf57	113246	broad.mit.edu	37	12	7055822	7055822	+	IGR	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:7055822G>A	ENST00000229281.5	+	0	560				PTPN6_ENST00000447931.2_De_novo_Start_InFrame|U47924.31_ENST00000607421.1_RNA|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_De_novo_Start_InFrame	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57							cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						ACTGTGCACAGCTGTGCCGCT	0.652																																						ENST00000399448.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18								protein tyrosine phosphatase, non-receptor type 6							26.0	27.0	27.0					12																	7055822		692	1591	2283	SO:0001628	intergenic_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7055822G>A	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017		12.37:g.7055822G>A						PTPN6_ENST00000447931.2_De_novo_Start_InFrame		NM_080548.4	NP_536858.1	P29350	PTN6_HUMAN			0	83	+								B2R4Q6	Translation_Start_Site	SNP	ENST00000229281.5	37		CCDS8571.1																																																																																				0.652	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		9	13	0	0	0	1	0	9	13				
PMS2	5395	broad.mit.edu	37	7	6048638	6048638	+	Missense_Mutation	SNP	C	C	T	rs372539944		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:6048638C>T	ENST00000265849.7	-	1	118	c.13G>A	c.(13-15)Gag>Aag	p.E5K	PMS2_ENST00000382321.4_Missense_Mutation_p.E5K|PMS2_ENST00000406569.3_Missense_Mutation_p.E5K|AIMP2_ENST00000400479.2_5'Flank|PMS2_ENST00000469652.1_5'UTR|AIMP2_ENST00000395236.2_5'Flank|AIMP2_ENST00000223029.3_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	5					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCGAGCTCTCAGCTCGCTCC	0.652			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(13-15)Gag>Aag	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							44.0	51.0	48.0					7																	6048638		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6048638C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.13G>A	7.37:g.6048638C>T	ENSP00000265849:p.Glu5Lys					PMS2_ENST00000406569.3_Missense_Mutation_p.E5K|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000382321.4_Missense_Mutation_p.E5K	p.E5K	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	1	118	-		Ovarian(82;0.0694)	5					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.13G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148625	0.37923	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	D;D;D	0.86956	-1.88;-2.19;-2.07	4.27	3.38	0.38709	.	1.654990	0.03755	N	0.257161	D	0.86781	0.6015	L	0.53249	1.67	0.23076	N	0.998334	P;D;P	0.56035	0.873;0.974;0.682	B;P;B	0.48189	0.385;0.57;0.156	T	0.71768	-0.4493	10	0.11485	T	0.65	-2.4461	9.571	0.39427	0.2093:0.7907:0.0:0.0	.	5;5;5	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	K	5	ENSP00000265849:E5K;ENSP00000371758:E5K;ENSP00000384308:E5K	ENSP00000265849:E5K	E	-	1	0	PMS2	6015164	0.002000	0.14202	0.002000	0.10522	0.026000	0.11368	1.395000	0.34520	1.346000	0.45694	0.650000	0.86243	GAG		0.652	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		33	120	0	0	0	1	0	33	120				
TCOF1	6949	broad.mit.edu	37	5	149769552	149769552	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:149769552C>T	ENST00000504761.2	+	19	3149	c.3149C>T	c.(3148-3150)tCa>tTa	p.S1050L	TCOF1_ENST00000513346.1_Missense_Mutation_p.S1087L|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1087L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1050L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S973L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S973L|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1050L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1050					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCGGATATCAGATGGCAAG	0.587																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3259-3261)tCa>tTa		Treacher Collins-Franceschetti syndrome 1							54.0	44.0	47.0					5																	149769552		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149769552C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3149C>T	5.37:g.149769552C>T	ENSP00000421655:p.Ser1050Leu					TCOF1_ENST00000439160.2_Missense_Mutation_p.S1050L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1050L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1050L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S973L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S973L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1087L	p.S1087L			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3368	+		all_hematologic(541;0.224)	1050					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3260C>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218010	0.39201	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.79749	-1.3;-1.29;-1.3;-1.3;-0.07;-1.02;-1.29;-1.07	4.68	3.81	0.43845	.	1.482540	0.04501	N	0.381217	T	0.77315	0.4112	L	0.43152	1.355	0.09310	N	1	B;B;B;P;B	0.47409	0.009;0.009;0.009;0.895;0.009	B;B;B;B;B	0.42030	0.011;0.011;0.011;0.373;0.011	T	0.65611	-0.6126	10	0.72032	D	0.01	3.7743	8.9874	0.36003	0.0:0.8981:0.0:0.1019	.	1050;973;1050;1050;973	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	L	1087;1050;973;973;1050;1050;1050;1087	ENSP00000400939:S1087L;ENSP00000367028:S1050L;ENSP00000409944:S973L;ENSP00000325223:S973L;ENSP00000406888:S1050L;ENSP00000390717:S1050L;ENSP00000421655:S1050L;ENSP00000427484:S1087L	ENSP00000325223:S973L	S	+	2	0	TCOF1	149749745	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.682000	0.25335	1.316000	0.45131	0.557000	0.71058	TCA		0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		12	25	0	0	0	1	0	12	25				
NRP2	8828	broad.mit.edu	37	2	206590642	206590642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:206590642C>T	ENST00000357785.5	+	6	857	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	NRP2_ENST00000360409.3_Nonsense_Mutation_p.Q276*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q276*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q276*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q276*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q276*			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCAGACTTTCAGTGCAATGT	0.532																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(826-828)Cag>Tag		neuropilin 2							123.0	106.0	112.0					2																	206590642		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590642C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.826C>T	2.37:g.206590642C>T	ENSP00000350432:p.Gln276*					NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q276*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.Q276*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q276*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q276*	p.Q276*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1617	+			276					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.826C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	45	11.805395	0.99605	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	6.07	6.07	0.98685	.	0.046684	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-22.8633	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	276	.	ENSP00000272849:Q276X	Q	+	1	0	NRP2	206298887	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.920000	0.70017	2.884000	0.98904	0.655000	0.94253	CAG		0.532	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			36	79	0	0	0	1	0	36	79				
CCKBR	887	broad.mit.edu	37	11	6291536	6291536	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:6291536C>T	ENST00000334619.2	+	3	815	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CCKBR_ENST00000532715.1_Missense_Mutation_p.R124C|CCKBR_ENST00000525462.1_Missense_Mutation_p.R208C	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	208					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTGCGTGCATCGCTGGCCCAG	0.587																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(622-624)Cgc>Tgc		cholecystokinin B receptor	Pentagastrin(DB00183)						86.0	84.0	85.0					11																	6291536		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291536C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.622C>T	11.37:g.6291536C>T	ENSP00000335544:p.Arg208Cys					CCKBR_ENST00000532715.1_Missense_Mutation_p.R124C|CCKBR_ENST00000334619.2_Missense_Mutation_p.R208C	p.R208C			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	625	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	168					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.622C>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633350	0.47049	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.37584	1.19;1.19;1.19	5.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.432805	0.25419	N	0.030803	T	0.42268	0.1195	L	0.48935	1.535	0.80722	D	1	D;P;P	0.69078	0.997;0.715;0.919	P;B;P	0.53062	0.687;0.311;0.717	T	0.28138	-1.0053	10	0.54805	T	0.06	.	11.7313	0.51739	0.1404:0.7354:0.1242:0.0	.	208;142;208	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	C	208;124;208	ENSP00000335544:R208C;ENSP00000432079:R124C;ENSP00000435534:R208C	ENSP00000335544:R208C	R	+	1	0	CCKBR	6248112	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	0.607000	0.24209	2.505000	0.84491	0.655000	0.94253	CGC		0.587	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		37	100	0	0	0	1	0	37	100				
NEU3	10825	broad.mit.edu	37	11	74716673	74716673	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:74716673G>A	ENST00000544263.1	+	4	593	c.423G>A	c.(421-423)gtG>gtA	p.V141V	NEU3_ENST00000294064.4_Silent_p.V174V|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Silent_p.V174V|NEU3_ENST00000545272.1_Silent_p.V65V|NEU3_ENST00000529024.1_Intron			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	141					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGAGTGAGGTGAGGGACTTGA	0.567																																						ENST00000294064.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(520-522)gtG>gtA		sialidase 3 (membrane sialidase)							127.0	127.0	127.0					11																	74716673		2108	4213	6321	SO:0001819	synonymous_variant	10825							g.chr11:74716673G>A	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.423G>A	11.37:g.74716673G>A						NEU3_ENST00000531509.1_Silent_p.V174V|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Silent_p.V65V|NEU3_ENST00000544263.1_Silent_p.V141V|NEU3_ENST00000532963.1_3'UTR	p.V174V	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN			3	1449	+			174					A8K327|Q9NQE1	Silent	SNP	ENST00000544263.1	37	c.522G>A																																																																																					0.567	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		41	105	0	0	0	1	0	41	105				
NCOA6	23054	broad.mit.edu	37	20	33342641	33342641	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:33342641G>A	ENST00000374796.2	-	9	4129	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S520L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	520	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTCCTGCTGAGAAGCCAGG	0.468																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(1558-1560)tCa>tTa		nuclear receptor coactivator 6							100.0	93.0	95.0					20																	33342641		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33342641G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1559C>T	20.37:g.33342641G>A	ENSP00000363929:p.Ser520Leu					NCOA6_ENST00000359003.2_Missense_Mutation_p.S520L	p.S520L			Q14686	NCOA6_HUMAN			9	4129	-			520			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1559C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530334	0.85706	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24908	1.83;1.83	5.97	5.97	0.96955	.	0.222183	0.31636	N	0.007312	T	0.16471	0.0396	N	0.14661	0.345	0.41954	D	0.990679	B	0.23735	0.09	B	0.18871	0.023	T	0.09487	-1.0672	10	0.25106	T	0.35	-4.9867	15.1661	0.72825	0.0:0.0:0.8589:0.1411	.	520	Q14686	NCOA6_HUMAN	L	520	ENSP00000363929:S520L;ENSP00000351894:S520L	ENSP00000351894:S520L	S	-	2	0	NCOA6	32806302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.847000	0.75404	2.835000	0.97688	0.591000	0.81541	TCA		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		28	55	0	0	0	1	0	28	55				
NEFM	4741	broad.mit.edu	37	8	24775451	24775451	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:24775451G>A	ENST00000221166.5	+	3	2865	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E319K|NEFM_ENST00000437366.2_Missense_Mutation_p.E656K|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	695	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gtcaaaagcagaagtggggaa	0.448																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2083-2085)Gaa>Aaa		neurofilament, medium polypeptide							55.0	61.0	59.0					8																	24775451		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775451G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2083G>A	8.37:g.24775451G>A	ENSP00000221166:p.Glu695Lys					NEFM_ENST00000437366.2_Missense_Mutation_p.E656K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E319K|NEFM_ENST00000521540.1_Intron	p.E695K			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2865	+		Prostate(55;0.157)	695			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2083G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.574843	0.03882	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.93659	-1.63;-1.78;-3.26	3.31	2.32	0.28847	.	2.105500	0.02395	N	0.080112	D	0.89598	0.6761	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.74266	-0.3721	10	0.19590	T	0.45	.	12.6786	0.56908	0.0:0.167:0.8329:0.0	.	695	P07197	NFM_HUMAN	K	695;656;319	ENSP00000221166:E695K;ENSP00000410137:E656K;ENSP00000412295:E319K	ENSP00000221166:E695K	E	+	1	0	NEFM	24831356	0.000000	0.05858	0.015000	0.15790	0.574000	0.36063	0.786000	0.26844	1.529000	0.49120	0.205000	0.17691	GAA		0.448	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		17	39	0	0	0	1	0	17	39				
HEPACAM2	253012	broad.mit.edu	37	7	92818541	92818541	+	3'UTR	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:92818541C>T	ENST00000394468.2	-	0	1505				HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Silent_p.*456*|HEPACAM2_ENST00000341723.4_3'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AATGTTTCTTCAGAATTTCAC	0.343																																						ENST00000440868.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1366-1368)tGa>tAa		HEPACAM family member 2							64.0	68.0	67.0					7																	92818541		2202	4298	6500	SO:0001624	3_prime_UTR_variant	253012					integral to membrane		g.chr7:92818541C>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.*39G>A	7.37:g.92818541C>T						HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000341723.4_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR	p.*456*			A8MVW5	HECA2_HUMAN			8	1417	-			0					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.1367G>A	CCDS43616.1																																																																																				0.343	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		18	42	0	0	0	1	0	18	42				
IRF2	3660	broad.mit.edu	37	4	185350199	185350199	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:185350199C>T	ENST00000393593.3	-	2	227	c.20G>A	c.(19-21)cGc>cAc	p.R7H	IRF2_ENST00000512020.1_5'UTR|SNORD79_ENST00000516069.1_RNA	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	7					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CGGGCGCATGCGCATCCTTTC	0.587																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(19-21)cGc>cAc		interferon regulatory factor 2							111.0	78.0	89.0					4																	185350199		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185350199C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.20G>A	4.37:g.185350199C>T	ENSP00000377218:p.Arg7His					IRF2_ENST00000512020.1_5'UTR	p.R7H	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	2	227	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	7					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.20G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404102	0.96051	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	5.09	5.09	0.68999	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99679	1.0998	10	0.87932	D	0	.	18.6865	0.91567	0.0:1.0:0.0:0.0	.	7	P14316	IRF2_HUMAN	H	7	ENSP00000377218:R7H;ENSP00000427204:R7H;ENSP00000424552:R7H;ENSP00000422860:R7H	ENSP00000377218:R7H	R	-	2	0	IRF2	185587193	1.000000	0.71417	0.964000	0.40570	0.996000	0.88848	7.175000	0.77632	2.662000	0.90505	0.655000	0.94253	CGC		0.587	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			17	37	0	0	0	1	0	17	37				
CPNE6	9362	broad.mit.edu	37	14	24546882	24546882	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24546882C>T	ENST00000397016.2	+	17	1928	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	CPNE6_ENST00000216775.2_Silent_p.I539I|CPNE6_ENST00000537691.1_Silent_p.I594I	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	539					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCAGGGCATCAGCCCTGGGG	0.667																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(1615-1617)atC>atT		copine VI (neuronal)							52.0	56.0	55.0					14																	24546882		2203	4299	6502	SO:0001819	synonymous_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546882C>T	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1617C>T	14.37:g.24546882C>T						CPNE6_ENST00000537691.1_Silent_p.I594I|CPNE6_ENST00000216775.2_Silent_p.I539I	p.I539I			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	17	1928	+			539					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	c.1617C>T	CCDS9607.1																																																																																				0.667	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			38	88	0	0	0	1	0	38	88				
FAM134C	162427	broad.mit.edu	37	17	40761330	40761330	+	Nonsense_Mutation	SNP	C	C	A	rs200120312		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:40761330C>A	ENST00000309428.5	-	1	72	c.13G>T	c.(13-15)Gaa>Taa	p.E5*	FAM134C_ENST00000543197.1_5'UTR|TUBG1_ENST00000251413.3_5'Flank|FAM134C_ENST00000585894.1_Intron	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	5						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGAACCCCTTCGGCCTCAGCC	0.687																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(13-15)Gaa>Taa		family with sequence similarity 134, member C																																				SO:0001587	stop_gained	162427					integral to membrane		g.chr17:40761330C>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.13G>T	17.37:g.40761330C>A	ENSP00000309432:p.Glu5*					FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	p.E5*	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	1	72	-		Breast(137;0.00116)	5					B3KR75	Nonsense_Mutation	SNP	ENST00000309428.5	37	c.13G>T	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275690	0.80580	.	.	ENSG00000141699	ENST00000309428	.	.	.	5.17	5.17	0.71159	.	0.444083	0.24152	N	0.041079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-2.7479	18.8725	0.92320	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	ENSP00000309432:E5X	E	-	1	0	FAM134C	38014856	0.825000	0.29262	0.968000	0.41197	0.160000	0.22226	3.535000	0.53575	2.711000	0.92665	0.561000	0.74099	GAA		0.687	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		15	43	1	0	3.41278e-10	1	3.53265e-10	15	43				
COX14	84987	broad.mit.edu	37	12	50513924	50513924	+	Missense_Mutation	SNP	G	G	A	rs368516862		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:50513924G>A	ENST00000550487.1	+	2	429	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	COX14_ENST00000550654.1_Missense_Mutation_p.R33Q|COX14_ENST00000548985.1_Missense_Mutation_p.R33Q|COX14_ENST00000317943.2_Missense_Mutation_p.R33Q|RP4-605O3.4_ENST00000552815.1_RNA	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	COX14_HUMAN	cytochrome c oxidase assembly homolog 14 (S. cerevisiae)	33					mitochondrial respiratory chain complex IV assembly (GO:0033617)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TGCAGTGTCCGAGTCTACCAC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		20542	0.0		0.0	False		,,,				2504	0.001					ENST00000550487.1																			0											c.(97-99)cGa>cAa		cytochrome c oxidase assembly homolog 14 (S. cerevisiae)		G	GLN/ARG	0,4406		0,0,2203	97.0	86.0	90.0		98	5.0	0.7	12		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf62	NM_032901.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	33/58	50513924	1,13005	2203	4300	6503	SO:0001583	missense	84987					integral to membrane		g.chr12:50513924G>A		CCDS8800.1	12q13.12	2012-10-15	2012-10-15	2012-02-23		ENSG00000178449		"""Mitochondrial respiratory chain complex assembly factors"""	28216	protein-coding gene	gene with protein product		614478	"""chromosome 12 open reading frame 62"", ""COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	C12orf62		22243966, 22356826	Standard	NM_032901		Approved	MGC14288	uc031qhh.1	Q96I36		ENST00000550487.1:c.98G>A	12.37:g.50513924G>A	ENSP00000446524:p.Arg33Gln					COX14_ENST00000550654.1_Missense_Mutation_p.R33Q|COX14_ENST00000548985.1_Missense_Mutation_p.R33Q|COX14_ENST00000317943.2_Missense_Mutation_p.R33Q|RP4-605O3.4_ENST00000552815.1_RNA	p.R33Q	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	CL062_HUMAN			2	429	+			33					B2R5G6	Missense_Mutation	SNP	ENST00000550487.1	37	c.98G>A	CCDS8800.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896751	0.52121	0.0	1.16E-4	ENSG00000178449	ENST00000550487;ENST00000317943;ENST00000550654;ENST00000548985	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.85	4.96	0.65561	.	0.291116	0.24476	N	0.038184	T	0.79673	0.4486	.	.	.	0.43444	D	0.995623	P	0.51057	0.941	P	0.48270	0.572	T	0.81901	-0.0720	9	0.66056	D	0.02	-0.7901	13.4724	0.61288	0.0732:0.0:0.9268:0.0	.	33	Q96I36	CL062_HUMAN	Q	33	ENSP00000446524:R33Q;ENSP00000326052:R33Q;ENSP00000450331:R33Q;ENSP00000447776:R33Q	ENSP00000326052:R33Q	R	+	2	0	C12orf62	48800191	1.000000	0.71417	0.707000	0.30419	0.077000	0.17291	5.667000	0.68067	1.626000	0.50381	0.655000	0.94253	CGA		0.537	COX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406024.2	NM_032901		33	55	0	0	0	1	0	33	55				
CCDC88A	55704	broad.mit.edu	37	2	55561412	55561412	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:55561412C>G	ENST00000436346.1	-	15	3386	c.2545G>C	c.(2545-2547)Gat>Cat	p.D849H	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D849H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D849H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D849H|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	849					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATGTGGTATCTTTAATTTCT	0.313																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2545-2547)Gat>Cat		coiled-coil domain containing 88A							126.0	123.0	124.0					2																	55561412		2203	4297	6500	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561412C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2545G>C	2.37:g.55561412C>G	ENSP00000410608:p.Asp849His					AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D849H|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D849H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D849H	p.D849H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			15	3386	-			849					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2545G>C		.	.	.	.	.	.	.	.	.	.	C	18.09	3.546300	0.65198	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.38887	2.24;2.48;2.46;2.26;1.11	5.43	5.43	0.79202	.	0.000000	0.49305	U	0.000147	T	0.66317	0.2777	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.999;0.99;0.995;0.999	T	0.67309	-0.5703	10	0.62326	D	0.03	-21.8341	19.678	0.95945	0.0:1.0:0.0:0.0	.	849;849;849;849;849	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	H	849;849;849;849;24	ENSP00000338728:D849H;ENSP00000263630:D849H;ENSP00000410608:D849H;ENSP00000404431:D849H;ENSP00000405080:D24H	ENSP00000263630:D849H	D	-	1	0	CCDC88A	55414916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.543000	0.82106	2.725000	0.93324	0.552000	0.68991	GAT		0.313	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		6	100	0	0	0	1	0	6	100				
FAM198B	51313	broad.mit.edu	37	4	159051943	159051943	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:159051943G>C	ENST00000296530.8	-	4	1968	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	FAM198B_ENST00000589306.1_5'Flank|FAM198B_ENST00000393807.5_Missense_Mutation_p.I457M|FAM198B_ENST00000585682.1_Missense_Mutation_p.I449M	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	449						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACTCTTTGATGCCTTCTA	0.348																																						ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(1345-1347)atC>atG		family with sequence similarity 198, member B							74.0	73.0	73.0					4																	159051943		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159051943G>C		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1347C>G	4.37:g.159051943G>C	ENSP00000296530:p.Ile449Met					FAM198B_ENST00000393807.5_Missense_Mutation_p.I457M|FAM198B_ENST00000585682.1_Missense_Mutation_p.I449M	p.I449M	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			4	1968	-			449					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.1347C>G	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291173	0.59976	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.46819	0.86;0.86	5.71	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70572	-0.4835	10	0.87932	D	0	-17.1598	8.6711	0.34152	0.0696:0.0:0.6719:0.2584	.	457;449	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	M	449;449;457;155	ENSP00000296530:I449M;ENSP00000377396:I457M	ENSP00000296530:I449M	I	-	3	3	FAM198B	159271393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.792000	0.47837	1.558000	0.49541	0.650000	0.86243	ATC		0.348	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		18	42	0	0	0	1	0	18	42				
BRSK2	9024	broad.mit.edu	37	11	1463797	1463797	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:1463797C>T	ENST00000528841.1	+	5	875	c.491C>T	c.(490-492)tCc>tTc	p.S164F	BRSK2_ENST00000526678.1_Missense_Mutation_p.S164F|BRSK2_ENST00000308219.9_Missense_Mutation_p.S164F|BRSK2_ENST00000528710.1_Missense_Mutation_p.S104F|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000531197.1_Missense_Mutation_p.S164F|BRSK2_ENST00000382179.1_Missense_Mutation_p.S210F|BRSK2_ENST00000308230.5_Missense_Mutation_p.S164F			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATGGCGTCCCTGCAGGTT	0.627																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(490-492)tCc>tTc		BR serine/threonine kinase 2							91.0	100.0	97.0					11																	1463797		2196	4296	6492	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1463797C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.491C>T	11.37:g.1463797C>T	ENSP00000432000:p.Ser164Phe					BRSK2_ENST00000528841.1_Missense_Mutation_p.S164F|BRSK2_ENST00000526678.1_Missense_Mutation_p.S164F|BRSK2_ENST00000308230.5_Missense_Mutation_p.S164F|BRSK2_ENST00000382179.1_Missense_Mutation_p.S210F|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Missense_Mutation_p.S104F|BRSK2_ENST00000531197.1_Missense_Mutation_p.S164F	p.S164F	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	877	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	164			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.491C>T	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083469	0.76642	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	3.71	2.69	0.31865	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.069925	0.64402	U	0.000013	T	0.42426	0.1202	L	0.51914	1.62	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;1.0;1.0;0.999	T	0.42849	-0.9427	10	0.87932	D	0	.	12.3704	0.55252	0.0:0.8288:0.1712:0.0	.	164;210;164;164;164	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	F	164;164;164;164;164;104;104;210	ENSP00000310697:S164F;ENSP00000431152:S164F;ENSP00000310805:S164F;ENSP00000432000:S164F;ENSP00000433370:S164F;ENSP00000432672:S104F;ENSP00000433235:S104F;ENSP00000371614:S210F	ENSP00000310697:S164F	S	+	2	0	BRSK2	1420373	0.995000	0.38212	0.953000	0.39169	0.754000	0.42855	3.658000	0.54482	1.820000	0.53075	0.456000	0.33151	TCC		0.627	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		19	64	0	0	0	1	0	19	64				
TTN	7273	broad.mit.edu	37	2	179428253	179428253	+	Missense_Mutation	SNP	C	C	T	rs386653130		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179428253C>T	ENST00000591111.1	-	276	77907	c.77683G>A	c.(77683-77685)Gaa>Aaa	p.E25895K	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18596K|TTN_ENST00000460472.2_Missense_Mutation_p.E18471K|TTN_ENST00000342992.6_Missense_Mutation_p.E24968K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18663K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27536K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25895	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGGCCTTCGGTAAGACCA	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82606-82608)Gaa>Aaa		titin							101.0	100.0	100.0					2																	179428253		1977	4164	6141	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428253C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77683G>A	2.37:g.179428253C>T	ENSP00000465570:p.Glu25895Lys					TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25895K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18663K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24968K|TTN_ENST00000359218.5_Missense_Mutation_p.E18596K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18471K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.E27536K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82830	-			25895			Fibronectin type-III 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82606G>A		.	.	.	.	.	.	.	.	.	.	C	16.63	3.177975	0.57692	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69079	0.3071	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	P;P;P;P	0.51895	0.683;0.683;0.683;0.683	T	0.73026	-0.4112	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	18471;18596;18663;25895	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24968;18471;18663;18596;18469	ENSP00000343764:E24968K;ENSP00000434586:E18471K;ENSP00000340554:E18663K;ENSP00000352154:E18596K	ENSP00000340554:E18663K	E	-	1	0	TTN	179136499	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.898000	0.63238	2.836000	0.97738	0.655000	0.94253	GAA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	116	0	0	0	1	0	67	116				
RAP1GDS1	5910	broad.mit.edu	37	4	99338644	99338644	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:99338644G>A	ENST00000408927.3	+	9	1147	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R297K|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R296K|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R254K|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R346K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	345					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATTTTGCCAGAAATGGTAAG	0.368			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(1033-1035)aGa>aAa		RAP1, GTP-GDP dissociation stimulator 1							94.0	85.0	88.0					4																	99338644		1832	4086	5918	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99338644G>A		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1034G>A	4.37:g.99338644G>A	ENSP00000386153:p.Arg345Lys					RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R296K|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R297K|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R254K	p.R345K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	9	1147	+			345					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1034G>A	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494232	0.96339	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.50548	0.74;1.61;0.74;0.74;0.74;0.74	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	L	0.45581	1.43	0.58432	D	0.999999	D;D;P;D;D;D	0.89917	0.996;0.959;0.932;1.0;1.0;0.997	D;D;P;D;D;P	0.80764	0.986;0.937;0.867;0.986;0.994;0.895	T	0.57242	-0.7845	10	0.32370	T	0.25	-12.2081	19.6932	0.96010	0.0:0.0:1.0:0.0	.	254;296;297;345;346;346	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	K	297;254;345;346;296;346	ENSP00000369503:R297K;ENSP00000264572:R254K;ENSP00000386153:R345K;ENSP00000407157:R346K;ENSP00000386223:R296K;ENSP00000340454:R346K	ENSP00000264572:R254K	R	+	2	0	RAP1GDS1	99557667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.230000	0.95299	2.664000	0.90586	0.655000	0.94253	AGA		0.368	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		18	65	0	0	0	1	0	18	65				
LRRC4B	94030	broad.mit.edu	37	19	51022143	51022143	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:51022143A>G	ENST00000599957.1	-	3	1024	c.827T>C	c.(826-828)cTc>cCc	p.L276P	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L276P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	276					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGCGACTTGAGGTCGTCGAA	0.652																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(826-828)cTc>cCc		leucine rich repeat containing 4B							78.0	90.0	86.0					19																	51022143		2181	4276	6457	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022143A>G	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.827T>C	19.37:g.51022143A>G	ENSP00000471502:p.Leu276Pro					LRRC4B_ENST00000389201.3_Missense_Mutation_p.L276P	p.L276P			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1024	-		all_neural(266;0.131)	276					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.827T>C	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565440	0.65651	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.71103	-0.54	4.05	4.05	0.47172	.	0.000000	0.64402	U	0.000009	D	0.88901	0.6563	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91640	0.5326	10	0.87932	D	0	.	11.2937	0.49265	1.0:0.0:0.0:0.0	.	276	Q9NT99	LRC4B_HUMAN	P	276	ENSP00000373853:L276P	ENSP00000373853:L276P	L	-	2	0	LRRC4B	55713955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	1.845000	0.53610	0.459000	0.35465	CTC		0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		4	146	0	0	0	1	0	4	146				
SIL1	64374	broad.mit.edu	37	5	138362571	138362571	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:138362571C>T	ENST00000394817.2	-	6	703	c.564G>A	c.(562-564)ctG>ctA	p.L188L	SIL1_ENST00000265195.5_Silent_p.L188L|SIL1_ENST00000509534.1_Silent_p.L195L|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	188	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTTGTTGATCAGCCGTACCA	0.443									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(562-564)ctG>ctA		SIL1 nucleotide exchange factor							133.0	120.0	125.0					5																	138362571		2203	4300	6503	SO:0001819	synonymous_variant	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138362571C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.564G>A	5.37:g.138362571C>T						SIL1_ENST00000509534.1_Silent_p.L195L|SIL1_ENST00000265195.5_Silent_p.L188L|CTB-46B19.2_ENST00000512875.2_RNA	p.L188L	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	703	-			188			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	c.564G>A	CCDS4209.1																																																																																				0.443	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		32	81	0	0	0	1	0	32	81				
AMZ1	155185	broad.mit.edu	37	7	2752119	2752119	+	Silent	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:2752119C>A	ENST00000312371.4	+	7	1472	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	368							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGGAGCCCCTCACCCCTGATG	0.706																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1102-1104)ctC>ctA		archaelysin family metallopeptidase 1							20.0	23.0	22.0					7																	2752119		2200	4300	6500	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752119C>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1104C>A	7.37:g.2752119C>A						AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.L368L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1472	+		Ovarian(82;0.0779)	368					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.1104C>A	CCDS34589.1																																																																																				0.706	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		12	36	1	0	0.00010058	1	0.000101799	12	36				
NOVA2	4858	broad.mit.edu	37	19	46457193	46457193	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:46457193G>A	ENST00000263257.5	-	3	435	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	81	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGGCATACCCGCTCTGTGGTT	0.537																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(241-243)Cgg>Tgg		neuro-oncological ventral antigen 2							166.0	140.0	149.0					19																	46457193		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46457193G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.241C>T	19.37:g.46457193G>A	ENSP00000263257:p.Arg81Trp						p.R81W	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	3	435	-		all_neural(266;0.113)|Ovarian(192;0.127)	81			KH 1.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.241C>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476224	0.44044	.	.	ENSG00000104967	ENST00000263257	T	0.36340	1.26	5.17	1.67	0.24075	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	H	0.99104	4.43	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.74680	-0.3584	10	0.87932	D	0	-11.7429	7.5401	0.27733	0.0845:0.0:0.6127:0.3027	.	81	Q9UNW9	NOVA2_HUMAN	W	81	ENSP00000263257:R81W	ENSP00000263257:R81W	R	-	1	2	NOVA2	51149033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.067000	0.57527	0.763000	0.33175	0.591000	0.81541	CGG		0.537	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		33	81	0	0	0	1	0	33	81				
PPFIA2	8499	broad.mit.edu	37	12	81768511	81768511	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:81768511C>G	ENST00000549396.1	-	11	1328	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E291Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E390Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E237Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E372Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E316Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E372Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	390	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCAGCTAGCTCAAGACGTTCT	0.463																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1168-1170)Gag>Cag		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							136.0	123.0	127.0					12																	81768511		1924	4130	6054	SO:0001583	missense	8499							g.chr12:81768511C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1168G>C	12.37:g.81768511C>G	ENSP00000450337:p.Glu390Gln					PPFIA2_ENST00000548586.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E237Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E372Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E291Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E316Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E372Q	p.E390Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			10	1463	-			316					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1168G>C	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.079492|5.079492	0.94050|0.94050	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|T	0.39997|0.50548	1.05;1.05;1.05;1.05;1.05;1.05;1.05|0.74	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76615|0.76615	0.4012|0.4012	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.67900|.	0.954|.	T|T	0.79962|0.79962	-0.1582|-0.1582	10|7	0.62326|0.72032	D|D	0.03|0.01	-17.9626|-17.9626	20.3312|20.3312	0.98718|0.98718	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	390|.	O75334|.	LIPA2_HUMAN|.	Q|F	390;372;316;401;372;390;291;390|228	ENSP00000450337:E390Q;ENSP00000450298:E372Q;ENSP00000385093:E316Q;ENSP00000327416:E372Q;ENSP00000449338:E390Q;ENSP00000388373:E291Q;ENSP00000447868:E390Q|ENSP00000446555:L228F	ENSP00000327416:E372Q|ENSP00000446555:L228F	E|L	-|-	1|3	0|2	PPFIA2|PPFIA2	80292642|80292642	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.905000|0.905000	0.53344|0.53344	7.769000|7.769000	0.85360|0.85360	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.463	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			14	56	0	0	0	1	0	14	56				
SLC35F1	222553	broad.mit.edu	37	6	118635386	118635386	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:118635386G>A	ENST00000360388.4	+	8	1399	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	400					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.E400K(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCAGGAGACCGAAGAGGAGCC	0.557																																						ENST00000360388.4																			1	Substitution - Missense(1)	p.E400K(1)	upper_aerodigestive_tract(1)	breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1198-1200)Gaa>Aaa		solute carrier family 35, member F1							70.0	59.0	63.0					6																	118635386		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118635386G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1198G>A	6.37:g.118635386G>A	ENSP00000353557:p.Glu400Lys						p.E400K	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1399	+			400					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.1198G>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878107	0.72294	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.56	5.56	0.83823	.	0.197300	0.44483	D	0.000441	T	0.38639	0.1048	N	0.24115	0.695	0.58432	D	0.999996	D	0.61080	0.989	P	0.47573	0.55	T	0.33007	-0.9885	9	0.51188	T	0.08	.	19.5331	0.95237	0.0:0.0:1.0:0.0	.	400	Q5T1Q4	S35F1_HUMAN	K	400	.	ENSP00000353557:E400K	E	+	1	0	SLC35F1	118742079	1.000000	0.71417	0.980000	0.43619	0.921000	0.55340	8.441000	0.90313	2.627000	0.88993	0.655000	0.94253	GAA		0.557	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		23	45	0	0	0	1	0	23	45				
IGHV1-24	28467	broad.mit.edu	37	14	106733553	106733553	+	RNA	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106733553G>A	ENST00000390610.2	-	0	86									immunoglobulin heavy variable 1-24																		CTGCCACCAAGAAGAGGATCC	0.577																																						ENST00000390610.2																			0																				95.0	88.0	90.0					14																	106733553		1994	4166	6160			28467							g.chr14:106733553G>A	M99642		14q32.33	2012-02-08			ENSG00000211950	ENSG00000211950		"""Immunoglobulins / IGH locus"""	5551	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152095		14.37:g.106733553G>A														0	86	-									RNA	SNP	ENST00000390610.2	37																																																																																						0.577	IGHV1-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325192.1	NG_001019		4	171	0	0	0	1	0	4	171				
RPE65	6121	broad.mit.edu	37	1	68903925	68903925	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:68903925C>G	ENST00000262340.5	-	10	1126	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	358					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGGAGCCTTTCTGGCATTTTT	0.338																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(1072-1074)aGa>aCa		retinal pigment epithelium-specific protein 65kDa							102.0	103.0	103.0					1																	68903925		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68903925C>G	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1073G>C	1.37:g.68903925C>G	ENSP00000262340:p.Arg358Thr						p.R358T	NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			10	1126	-			358					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.1073G>C	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	8.077	0.771522	0.16051	.	.	ENSG00000116745	ENST00000262340	D	0.94758	-3.51	5.71	2.07	0.26955	.	0.953281	0.08712	N	0.904763	T	0.78991	0.4371	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.67300	-0.5705	10	0.21540	T	0.41	-3.1841	2.63	0.04941	0.5017:0.289:0.0:0.2093	.	358	Q16518	RPE65_HUMAN	T	358	ENSP00000262340:R358T	ENSP00000262340:R358T	R	-	2	0	RPE65	68676513	0.898000	0.30612	0.986000	0.45419	0.973000	0.67179	2.000000	0.40816	1.352000	0.45808	0.591000	0.81541	AGA		0.338	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		23	59	0	0	0	1	0	23	59				
TRIM33	51592	broad.mit.edu	37	1	114967317	114967317	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:114967317G>C	ENST00000358465.2	-	10	1839	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	TRIM33_ENST00000369543.2_Missense_Mutation_p.Q586E|TRIM33_ENST00000450349.2_Missense_Mutation_p.Q194E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	586					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGGGCTTGAAAAGCTCCA	0.443			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1756-1758)Caa>Gaa		tripartite motif containing 33							123.0	107.0	112.0					1																	114967317		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114967317G>C	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1756C>G	1.37:g.114967317G>C	ENSP00000351250:p.Gln586Glu					TRIM33_ENST00000369543.2_Missense_Mutation_p.Q586E|TRIM33_ENST00000450349.2_Missense_Mutation_p.Q194E	p.Q586E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1839	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	586					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1756C>G	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.162573|3.162573	0.57368|0.57368	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	T|T;T;T	0.69685|0.74209	-0.42|-0.74;-0.65;-0.82	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.162479	.|0.56097	.|D	.|0.000032	T|T	0.60907|0.60907	0.2305|0.2305	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;B	.|0.32365	.|0.153;0.156;0.367;0.252	.|B;B;B;B	.|0.38106	.|0.046;0.049;0.265;0.136	T|T	0.60016|0.60016	-0.7345|-0.7345	7|10	0.11182|0.19147	T|T	0.66|0.46	-11.4051|-11.4051	19.6568|19.6568	0.95845|0.95845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|194;194;586;586	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	L|E	322|586;586;194	ENSP00000402333:F322L|ENSP00000351250:Q586E;ENSP00000358556:Q586E;ENSP00000412077:Q194E	ENSP00000402333:F322L|ENSP00000351250:Q586E	F|Q	-|-	3|1	2|0	TRIM33|TRIM33	114768840|114768840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.483000|5.483000	0.66838|0.66838	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	TTC|CAA		0.443	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		23	59	0	0	0	1	0	23	59				
DSP	1832	broad.mit.edu	37	6	7583682	7583682	+	Missense_Mutation	SNP	C	C	T	rs374090050		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:7583682C>T	ENST00000379802.3	+	24	6528	c.6187C>T	c.(6187-6189)Cgg>Tgg	p.R2063W	DSP_ENST00000418664.2_Missense_Mutation_p.R1464W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2063	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATCCCCATCGGAATGAGAA	0.483																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6187-6189)Cgg>Tgg		desmoplakin							79.0	82.0	81.0					6																	7583682		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583682C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6187C>T	6.37:g.7583682C>T	ENSP00000369129:p.Arg2063Trp					DSP_ENST00000418664.2_Missense_Mutation_p.R1464W	p.R2063W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6528	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2063			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6187C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355011	0.61293	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73789	-0.78;-0.78	5.09	2.9	0.33743	.	0.000000	0.53938	D	0.000060	T	0.73613	0.3609	L	0.50333	1.59	0.21553	N	0.999647	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.912	T	0.70241	-0.4926	10	0.59425	D	0.04	.	14.3992	0.67031	0.3425:0.6575:0.0:0.0	.	1511;2063	Q4LE79;P15924	.;DESP_HUMAN	W	2063;1464	ENSP00000369129:R2063W;ENSP00000396591:R1464W	ENSP00000369129:R2063W	R	+	1	2	DSP	7528681	0.638000	0.27225	0.999000	0.59377	0.997000	0.91878	1.222000	0.32515	0.456000	0.26937	0.655000	0.94253	CGG		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		53	148	0	0	0	1	0	53	148				
SHKBP1	92799	broad.mit.edu	37	19	41086389	41086389	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:41086389C>G	ENST00000291842.5	+	7	609	c.560C>G	c.(559-561)tCa>tGa	p.S187*	SHKBP1_ENST00000600733.1_Nonsense_Mutation_p.S187*	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	187					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTCACCCTCAGGTACGTTT	0.617																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(559-561)tCa>tGa		SH3KBP1 binding protein 1							70.0	73.0	72.0					19																	41086389		2203	4300	6503	SO:0001587	stop_gained	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086389C>G	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.560C>G	19.37:g.41086389C>G	ENSP00000291842:p.Ser187*					SHKBP1_ENST00000600733.1_Nonsense_Mutation_p.S187*	p.S187*	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	609	+			187					Q8N2I6|Q8WY93|Q96IB8	Nonsense_Mutation	SNP	ENST00000291842.5	37	c.560C>G	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100515	0.94245	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	.	.	.	5.32	4.27	0.50696	.	0.379178	0.24347	N	0.039301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-22.075	9.0806	0.36550	0.1663:0.6731:0.1606:0.0	.	.	.	.	X	187;24	.	ENSP00000291842:S187X	S	+	2	0	SHKBP1	45778229	0.025000	0.19082	0.831000	0.32960	0.780000	0.44128	3.073000	0.50057	1.225000	0.43566	0.455000	0.32223	TCA		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		21	49	0	0	0	1	0	21	49				
PSG3	5671	broad.mit.edu	37	19	43237159	43237159	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:43237159C>T	ENST00000327495.5	-	3	670	c.486G>A	c.(484-486)atG>atA	p.M162I	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.M162I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	162	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCACAGCCTCCATGTCCTCCC	0.537																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(484-486)atG>atA		pregnancy specific beta-1-glycoprotein 3							204.0	200.0	201.0					19																	43237159		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237159C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.486G>A	19.37:g.43237159C>T	ENSP00000332215:p.Met162Ile					PSG3_ENST00000595140.1_Missense_Mutation_p.M162I	p.M162I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	670	-		Prostate(69;0.00682)	162			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.486G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	6.972	0.549388	0.13374	.	.	ENSG00000221826	ENST00000327495	T	0.09350	2.99	1.59	1.59	0.23543	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07503	0.0189	L	0.28274	0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.32402	-0.9908	9	0.39692	T	0.17	.	6.5812	0.22596	0.0:1.0:0.0:0.0	.	140;162	Q08266;Q16557	.;PSG3_HUMAN	I	162	ENSP00000332215:M162I	ENSP00000332215:M162I	M	-	3	0	PSG3	47928999	0.012000	0.17670	0.002000	0.10522	0.002000	0.02628	1.621000	0.36986	0.871000	0.35750	0.393000	0.25936	ATG		0.537	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		6	418	0	0	0	1	0	6	418				
ZC3HAV1L	92092	broad.mit.edu	37	7	138711580	138711580	+	Splice_Site	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:138711580C>G	ENST00000275766.1	-	4	772		c.e4-1			NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like											NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GATGAATTATCTACAAAGAGG	0.502																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.e4-1		zinc finger CCCH-type, antiviral 1-like							64.0	67.0	66.0					7																	138711580		2203	4300	6503	SO:0001630	splice_region_variant	92092							g.chr7:138711580C>G	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.761-1G>C	7.37:g.138711580C>G								NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			4	772	-								Q8WUD9	Splice_Site	SNP	ENST00000275766.1	37		CCDS5850.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117950	0.20877	.	.	ENSG00000146858	ENST00000275766	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5059	0.50466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZC3HAV1L	138362120	0.038000	0.19896	0.047000	0.18901	0.033000	0.12548	1.586000	0.36611	2.419000	0.82065	0.561000	0.74099	.		0.502	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660	Intron	16	31	0	0	0	1	0	16	31				
KIT	3815	broad.mit.edu	37	4	55575701	55575701	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:55575701G>C	ENST00000288135.5	+	7	1324	c.1227G>C	c.(1225-1227)gtG>gtC	p.V409V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	409	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTTATGTGAATAGTAAGT	0.373		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1225-1227)gtG>gtC		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						86.0	81.0	83.0					4																	55575701		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55575701G>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1227G>C	4.37:g.55575701G>C							p.V409V	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	7	1324	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		409			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.1227G>C	CCDS3496.1																																																																																				0.373	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			28	74	0	0	0	1	0	28	74				
ANK2	287	broad.mit.edu	37	4	114251401	114251401	+	Splice_Site	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:114251401G>A	ENST00000357077.4	+	27	2953		c.e27-1		ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000509550.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000264366.6_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTAATTTTTAGTTTCCTGGTT	0.393																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.e27-1		ankyrin 2, neuronal							40.0	42.0	41.0					4																	114251401		2203	4300	6503	SO:0001630	splice_region_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251401G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2901-1G>A	4.37:g.114251401G>A						ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000509550.1_Splice_Site|ANK2_ENST00000506722.1_Splice_Site		NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	2953	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)						Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	ENST00000357077.4	37		CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746303	0.69418	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000514960	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114470850	1.000000	0.71417	0.992000	0.48379	0.604000	0.37047	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	Intron	14	19	0	0	0	1	0	14	19				
CHST9	83539	broad.mit.edu	37	18	24497258	24497258	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:24497258G>C	ENST00000284224.8	-	6	574	c.297C>G	c.(295-297)ctC>ctG	p.L99L	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.L99L|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	99					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAGAATTGAGTAGAAGAT	0.408																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(295-297)ctC>ctG		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							237.0	211.0	219.0					18																	24497258		1849	4088	5937	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24497258G>C	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.297C>G	18.37:g.24497258G>C						AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Silent_p.L99L|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR	p.L99L	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	574	-	all_lung(6;0.0145)|Ovarian(20;0.124)		99					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.297C>G	CCDS42422.1																																																																																				0.408	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		82	218	0	0	0	1	0	82	218				
RBMS2	5939	broad.mit.edu	37	12	56975246	56975246	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:56975246G>A	ENST00000262031.5	+	7	781	c.686G>A	c.(685-687)gGa>gAa	p.G229E	RBMS2_ENST00000552247.2_Missense_Mutation_p.G229E|RBMS2_ENST00000542360.1_Missense_Mutation_p.G84E|RBMS2_ENST00000550726.1_Missense_Mutation_p.G104E	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	229					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAGAACCAAGGAAAATTTGTG	0.512																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(685-687)gGa>gAa		RNA binding motif, single stranded interacting protein 2							58.0	54.0	55.0					12																	56975246		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56975246G>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.686G>A	12.37:g.56975246G>A	ENSP00000262031:p.Gly229Glu					RBMS2_ENST00000550726.1_Missense_Mutation_p.G104E|RBMS2_ENST00000542360.1_Missense_Mutation_p.G84E|RBMS2_ENST00000552247.2_Missense_Mutation_p.G229E	p.G229E	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			7	781	+			229						Missense_Mutation	SNP	ENST00000262031.5	37	c.686G>A	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084371	0.76642	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	T;T;T	0.75821	2.8;-0.97;-0.97	5.21	5.21	0.72293	.	0.111999	0.64402	D	0.000011	D	0.83161	0.5194	M	0.65498	2.005	0.80722	D	1	D;B	0.71674	0.998;0.389	D;B	0.68353	0.957;0.101	T	0.78484	-0.2186	10	0.13853	T	0.58	.	17.9318	0.88999	0.0:0.0:1.0:0.0	.	84;229	F5H5C8;Q15434	.;RBMS2_HUMAN	E	229;229;104;84	ENSP00000262031:G229E;ENSP00000447426:G229E;ENSP00000449678:G104E	ENSP00000262031:G229E	G	+	2	0	RBMS2	55261513	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.107000	0.64603	2.605000	0.88082	0.655000	0.94253	GGA		0.512	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		14	38	0	0	0	1	0	14	38				
PCNXL2	80003	broad.mit.edu	37	1	233398807	233398807	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:233398807C>G	ENST00000258229.9	-	2	490	c.256G>C	c.(256-258)Gac>Cac	p.D86H	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	86						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCTCCTTTGTCAAACATGAGG	0.388																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(256-258)Gac>Cac		pecanex-like 2 (Drosophila)							171.0	149.0	156.0					1																	233398807		1852	4101	5953	SO:0001583	missense	80003					integral to membrane		g.chr1:233398807C>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.256G>C	1.37:g.233398807C>G	ENSP00000258229:p.Asp86His					PCNXL2_ENST00000430153.1_5'UTR	p.D86H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			2	490	-		all_cancers(173;0.0347)|Prostate(94;0.137)	86					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.256G>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417839	0.83449	.	.	ENSG00000135749	ENST00000258229	T	0.63096	-0.02	5.09	5.09	0.68999	.	.	.	.	.	T	0.80412	0.4618	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82997	-0.0179	9	0.87932	D	0	.	16.8516	0.85995	0.0:1.0:0.0:0.0	.	86	A6NKB5	PCX2_HUMAN	H	86	ENSP00000258229:D86H	ENSP00000258229:D86H	D	-	1	0	PCNXL2	231465430	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.910000	0.63321	2.638000	0.89438	0.655000	0.94253	GAC		0.388	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		23	56	0	0	0	1	0	23	56				
MUC16	94025	broad.mit.edu	37	19	9006375	9006375	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9006375G>C	ENST00000397910.4	-	45	39846	c.39643C>G	c.(39643-39645)Ctg>Gtg	p.L13215V	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13217	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAATACAGAGGGCCAACA	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39643-39645)Ctg>Gtg		mucin 16, cell surface associated							104.0	85.0	91.0					19																	9006375		2004	4181	6185	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006375G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39643C>G	19.37:g.9006375G>C	ENSP00000381008:p.Leu13215Val						p.L13215V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39846	-			13217			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39643C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.760	-0.258011	0.05791	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.55760	0.5	2.73	-2.83	0.05769	SEA (1);	.	.	.	.	T	0.65059	0.2655	M	0.86573	2.825	.	.	.	B;P	0.43578	0.01;0.811	B;P	0.60173	0.013;0.87	T	0.63328	-0.6662	8	0.87932	D	0	-3.4374	0.5732	0.00699	0.2534:0.1892:0.3647:0.1927	.	20860;13215	Q8WXI7;B5ME49	MUC16_HUMAN;.	V	13215;346	ENSP00000381008:L13215V	ENSP00000381008:L13215V	L	-	1	2	MUC16	8867375	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.037000	0.12164	-0.459000	0.07013	-0.834000	0.03071	CTG		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	131	0	0	0	1	0	25	131				
CACNA1C	775	broad.mit.edu	37	12	2702407	2702407	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:2702407G>A	ENST00000347598.4	+	19	2559	c.2559G>A	c.(2557-2559)atG>atA	p.M853I	CACNA1C_ENST00000399629.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M878I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399655.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M853I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M853I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	853					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCCAGAGATGCCTGTCGGCC	0.507																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(2557-2559)atG>atA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						54.0	56.0	55.0					12																	2702407		1989	4175	6164	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2702407G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2559G>A	12.37:g.2702407G>A	ENSP00000266376:p.Met853Ile					CACNA1C_ENST00000399644.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M853I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M853I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M878I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M853I	p.M853I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	19	2824	+			853					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2559G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597702	0.46318	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95885	-3.78;-3.78;-3.81;-3.77;-3.78;-3.77;-3.79;-3.68;-3.73;-3.77;-3.7;-3.69;-3.77;-3.83;-3.71;-3.61;-3.84;-3.79;-3.77;-3.8;-3.71;-3.8;-3.84	5.01	4.1	0.47936	.	0.078638	0.85682	D	0.000000	D	0.94676	0.8283	N	0.25144	0.715	0.80722	D	1	P;D;B;B;P;D;D;P;B;B;D;D;B;P;P;P;B;B;D;B;P;D;D;B;B;D	0.58970	0.932;0.984;0.004;0.126;0.885;0.975;0.97;0.956;0.007;0.029;0.975;0.962;0.01;0.956;0.936;0.926;0.004;0.003;0.975;0.003;0.831;0.975;0.975;0.234;0.0;0.962	P;P;B;B;P;D;D;D;B;B;D;D;B;D;P;D;B;B;D;B;P;D;D;B;B;D	0.73380	0.871;0.786;0.008;0.023;0.871;0.974;0.961;0.974;0.01;0.039;0.974;0.946;0.018;0.98;0.885;0.943;0.006;0.018;0.974;0.003;0.758;0.974;0.974;0.14;0.001;0.946	D	0.92007	0.5615	10	0.13470	T	0.59	.	14.643	0.68739	0.0:0.0:0.8534:0.1466	.	853;850;853;853;853;853;853;853;853;853;853;853;824;853;853;853;853;853;853;853;853;853;853;853;853;853	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	878;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;853;694	ENSP00000336982:M878I;ENSP00000382563:M853I;ENSP00000437936:M853I;ENSP00000382552:M853I;ENSP00000382547:M853I;ENSP00000382506:M853I;ENSP00000382530:M853I;ENSP00000382546:M853I;ENSP00000382500:M853I;ENSP00000382549:M853I;ENSP00000266376:M853I;ENSP00000382515:M853I;ENSP00000382510:M853I;ENSP00000341092:M853I;ENSP00000382537:M853I;ENSP00000329877:M853I;ENSP00000382557:M853I;ENSP00000385724:M853I;ENSP00000382512:M853I;ENSP00000382542:M853I;ENSP00000382526:M853I;ENSP00000385896:M853I;ENSP00000382504:M853I	ENSP00000323129:M694I	M	+	3	0	CACNA1C	2572668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.346000	0.65992	1.306000	0.44926	0.462000	0.41574	ATG		0.507	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		9	17	0	0	0	1	0	9	17				
RAB13	5872	broad.mit.edu	37	1	153955285	153955285	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:153955285C>T	ENST00000368575.3	-	5	440		c.e5-1		RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGAGGCATTCTGGGGGCAAA	0.602																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.e5-1		RAB13, member RAS oncogene family							37.0	34.0	35.0					1																	153955285		2203	4300	6503	SO:0001630	splice_region_variant	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153955285C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.325-1G>A	1.37:g.153955285C>T						RAB13_ENST00000462680.1_5'UTR		NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	440	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Splice_Site	SNP	ENST00000368575.3	37		CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142081	0.37825	.	.	ENSG00000143545	ENST00000368575	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5931	0.76554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB13	152221909	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	7.172000	0.77604	2.554000	0.86153	0.650000	0.86243	.		0.602	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870	Intron	13	36	0	0	0	1	0	13	36				
THAP1	55145	broad.mit.edu	37	8	42693377	42693377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:42693377G>A	ENST00000254250.3	-	3	600	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	THAP1_ENST00000345117.2_3'UTR|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	124					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAGGGGTCTGAAGAGGCGGC	0.483																																						ENST00000254250.3																			0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(370-372)Cag>Tag		THAP domain containing, apoptosis associated protein 1							115.0	124.0	121.0					8																	42693377		2203	4300	6503	SO:0001587	stop_gained	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693377G>A	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.370C>T	8.37:g.42693377G>A	ENSP00000254250:p.Gln124*					THAP1_ENST00000345117.2_3'UTR	p.Q124*	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	600	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	124					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Nonsense_Mutation	SNP	ENST00000254250.3	37	c.370C>T	CCDS6136.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915917	0.92178	.	.	ENSG00000131931	ENST00000254250	.	.	.	5.52	4.65	0.58169	.	0.644112	0.16584	N	0.208045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-29.6349	10.7705	0.46319	0.1455:0.0:0.8545:0.0	.	.	.	.	X	124	.	ENSP00000254250:Q124X	Q	-	1	0	THAP1	42812534	1.000000	0.71417	0.924000	0.36721	0.962000	0.63368	5.385000	0.66231	1.476000	0.48215	0.585000	0.79938	CAG		0.483	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		65	136	0	0	0	1	0	65	136				
TMEM223	79064	broad.mit.edu	37	11	62558364	62558364	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62558364G>C	ENST00000307366.7	-	2	366	c.340C>G	c.(340-342)Ctt>Gtt	p.L114V	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	114						integral component of membrane (GO:0016021)											GAGAAGAGAAGACCAGCACCG	0.597																																						ENST00000307366.7																			0											c.(340-342)Ctt>Gtt		transmembrane protein 223							22.0	24.0	23.0					11																	62558364		2071	4201	6272	SO:0001583	missense	79064					integral to membrane		g.chr11:62558364G>C		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.340C>G	11.37:g.62558364G>C	ENSP00000303987:p.Leu114Val					TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	p.L114V	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN			2	366	-			114					Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	ENST00000307366.7	37	c.340C>G	CCDS44628.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362788	0.24684	.	.	ENSG00000168569	ENST00000307366	T	0.46819	0.86	5.32	2.36	0.29203	.	0.601836	0.15659	N	0.250987	T	0.38585	0.1046	L	0.53249	1.67	0.18873	N	0.999989	B	0.25563	0.129	B	0.23419	0.046	T	0.28870	-1.0030	10	0.41790	T	0.15	-5.3003	5.6699	0.17717	0.1686:0.3111:0.5203:0.0	.	114	A0PJW6	TM223_HUMAN	V	114	ENSP00000303987:L114V	ENSP00000303987:L114V	L	-	1	0	TMEM223	62314940	0.991000	0.36638	0.119000	0.21687	0.605000	0.37080	1.660000	0.37397	0.220000	0.20860	0.455000	0.32223	CTT		0.597	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			5	17	0	0	0	1	0	5	17				
STOML2	30968	broad.mit.edu	37	9	35100058	35100058	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:35100058C>G	ENST00000356493.5	-	10	1107	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.E304Q|RP11-182N22.8_ENST00000431804.1_RNA	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	349					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGATCAAGTTCCTCATCAAGA	0.542																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(1045-1047)Gaa>Caa		stomatin (EPB72)-like 2							189.0	154.0	166.0					9																	35100058		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35100058C>G	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.1045G>C	9.37:g.35100058C>G	ENSP00000348886:p.Glu349Gln					STOML2_ENST00000452248.2_Missense_Mutation_p.E304Q	p.E349Q	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		10	1107	-			349					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.1045G>C	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225239	0.58668	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98207	-3.58;-4.79	5.07	5.07	0.68467	.	0.187560	0.41938	D	0.000792	D	0.96670	0.8913	L	0.52573	1.65	0.34396	D	0.694718	P;P	0.47762	0.48;0.9	B;B	0.41646	0.122;0.362	D	0.99937	1.1374	10	0.45353	T	0.12	-9.1148	17.1931	0.86886	0.0:1.0:0.0:0.0	.	304;349	B4E1K7;Q9UJZ1	.;STML2_HUMAN	Q	349;304	ENSP00000348886:E349Q;ENSP00000395743:E304Q	ENSP00000348886:E349Q	E	-	1	0	STOML2	35090058	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.724000	0.54962	2.644000	0.89710	0.655000	0.94253	GAA		0.542	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		58	130	0	0	0	1	0	58	130				
FEZF2	55079	broad.mit.edu	37	3	62358352	62358352	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:62358352G>A	ENST00000283268.3	-	2	486	c.192C>T	c.(190-192)ctC>ctT	p.L64L	FEZF2_ENST00000475839.1_Silent_p.L64L|FEZF2_ENST00000486811.1_Silent_p.L64L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	64					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCAGAGGTTGAGCAGTTTCT	0.637																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(190-192)ctC>ctT		FEZ family zinc finger 2							35.0	40.0	38.0					3																	62358352		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358352G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.192C>T	3.37:g.62358352G>A						FEZF2_ENST00000486811.1_Silent_p.L64L|FEZF2_ENST00000475839.1_Silent_p.L64L	p.L64L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	486	-		Lung SC(41;0.0262)	64					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.192C>T	CCDS2897.1																																																																																				0.637	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		22	46	0	0	0	1	0	22	46				
KIAA1614	57710	broad.mit.edu	37	1	180904549	180904549	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:180904549C>A	ENST00000367588.4	+	5	1559	c.1504C>A	c.(1504-1506)Ccc>Acc	p.P502T	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P123T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	502										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAACGGGGCTCCCCGGCTCCG	0.741																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1504-1506)Ccc>Acc		KIAA1614							4.0	6.0	6.0					1																	180904549		1784	3868	5652	SO:0001583	missense	57710							g.chr1:180904549C>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1504C>A	1.37:g.180904549C>A	ENSP00000356560:p.Pro502Thr					KIAA1614_ENST00000367587.1_Missense_Mutation_p.P123T	p.P502T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1559	+			502					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1504C>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.467309	0.26335	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.21191	2.56;2.02	3.66	-4.49	0.03504	.	2.992290	0.02015	N	0.047308	T	0.13372	0.0324	N	0.22421	0.69	0.24096	N	0.995894	B	0.28552	0.215	B	0.23574	0.047	T	0.27331	-1.0077	9	0.51188	T	0.08	.	6.5272	0.22307	0.0:0.4985:0.1515:0.35	.	502	Q5VZ46	K1614_HUMAN	T	502;123	ENSP00000356560:P502T;ENSP00000356559:P123T	ENSP00000356559:P123T	P	+	1	0	KIAA1614	179171172	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-0.406000	0.07187	-0.679000	0.05217	0.457000	0.33378	CCC		0.741	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		6	14	1	0	8.12818e-05	1	8.24336e-05	6	14				
ZNF609	23060	broad.mit.edu	37	15	64972426	64972426	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:64972426G>A	ENST00000326648.3	+	6	3940	c.3812G>A	c.(3811-3813)aGc>aAc	p.S1271N		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1271						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATATGGCAGCAAGGTCTCA	0.512																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3811-3813)aGc>aAc		zinc finger protein 609							102.0	95.0	97.0					15																	64972426		2202	4299	6501	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64972426G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3812G>A	15.37:g.64972426G>A	ENSP00000316527:p.Ser1271Asn						p.S1271N	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			6	3940	+			1271					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.3812G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607455	0.46527	.	.	ENSG00000180357	ENST00000326648	T	0.45276	0.9	5.45	5.45	0.79879	.	0.155966	0.64402	D	0.000001	T	0.30665	0.0772	N	0.21448	0.665	0.43242	D	0.995152	B	0.09022	0.002	B	0.09377	0.004	T	0.07908	-1.0748	10	0.59425	D	0.04	-12.0864	12.6105	0.56547	0.0759:0.0:0.9241:0.0	.	1271	O15014	ZN609_HUMAN	N	1271	ENSP00000316527:S1271N	ENSP00000316527:S1271N	S	+	2	0	ZNF609	62759479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.477000	0.60223	2.547000	0.85894	0.561000	0.74099	AGC		0.512	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		4	128	0	0	0	1	0	4	128				
MUC16	94025	broad.mit.edu	37	19	9071203	9071203	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9071203C>T	ENST00000397910.4	-	3	16446	c.16243G>A	c.(16243-16245)Gcc>Acc	p.A5415T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5417	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A5415T(4)|p.A1048T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCATGGCGGCTTCTGTG	0.498																																						ENST00000397910.4																			6	Substitution - Missense(6)	p.A5415T(4)|p.A1048T(2)	lung(3)|endometrium(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16243-16245)Gcc>Acc		mucin 16, cell surface associated							458.0	432.0	441.0					19																	9071203		2099	4233	6332	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071203C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16243G>A	19.37:g.9071203C>T	ENSP00000381008:p.Ala5415Thr						p.A5415T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16446	-			5417			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16243G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.642	-0.073369	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.20738	2.05	2.2	-4.41	0.03590	.	.	.	.	.	T	0.08582	0.0213	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.27806	-1.0063	8	0.87932	D	0	.	4.1013	0.10015	0.1614:0.3586:0.0:0.48	.	5415	B5ME49	.	T	5415	ENSP00000381008:A5415T	ENSP00000381008:A5415T	A	-	1	0	MUC16	8932203	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.188000	0.01249	-1.724000	0.01373	-2.140000	0.00339	GCC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	657	0	0	0	1	0	6	657				
C9orf3	84909	broad.mit.edu	37	9	97522183	97522183	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:97522183G>A	ENST00000375315.2	+	1	118	c.118G>A	c.(118-120)Gag>Aag	p.E40K	C9orf3_ENST00000297979.5_Missense_Mutation_p.E40K|C9orf3_ENST00000277198.2_Missense_Mutation_p.E40K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	40					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCAAGTCATTGAGGGGACCAT	0.458																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(118-120)Gag>Aag		chromosome 9 open reading frame 3							82.0	82.0	82.0					9																	97522183		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522183G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.118G>A	9.37:g.97522183G>A	ENSP00000364464:p.Glu40Lys					C9orf3_ENST00000277198.2_Missense_Mutation_p.E40K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E40K	p.E40K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	118	+			40					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.118G>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901456	0.52227	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.04156	3.69;3.69;3.69	4.84	4.84	0.62591	.	0.431395	0.25419	N	0.030812	T	0.08268	0.0206	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.31640	0.075;0.333;0.279;0.199	B;B;B;B	0.33620	0.05;0.077;0.085;0.167	T	0.05632	-1.0873	10	0.66056	D	0.02	-4.78	13.8312	0.63382	0.0:0.1531:0.8469:0.0	.	40;40;40;40	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	K	40	ENSP00000277198:E40K;ENSP00000297979:E40K;ENSP00000364464:E40K	ENSP00000277198:E40K	E	+	1	0	C9orf3	96562004	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.652000	0.54439	2.501000	0.84356	0.563000	0.77884	GAG		0.458	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		20	77	0	0	0	1	0	20	77				
STARD8	9754	broad.mit.edu	37	X	67938003	67938003	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:67938003G>A	ENST00000252336.6	+	5	1379	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	STARD8_ENST00000374599.3_Missense_Mutation_p.G416E|STARD8_ENST00000374597.3_Missense_Mutation_p.G336E	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	336					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGGGGCCTGGAGATGAGGAA	0.577																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(1006-1008)gGa>gAa		StAR-related lipid transfer (START) domain containing 8							50.0	46.0	47.0					X																	67938003		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938003G>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1007G>A	X.37:g.67938003G>A	ENSP00000252336:p.Gly336Glu					STARD8_ENST00000374599.3_Missense_Mutation_p.G416E|STARD8_ENST00000374597.3_Missense_Mutation_p.G336E	p.G336E	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1379	+			336					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1007G>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310763	0.10733	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.06768	3.26;3.27;3.26	4.4	2.48	0.30137	.	0.974520	0.08423	N	0.948002	T	0.05868	0.0153	N	0.25647	0.755	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.14578	0.011;0.005	T	0.48387	-0.9040	10	0.12103	T	0.63	.	6.049	0.19775	0.1226:0.2015:0.6758:0.0	.	416;336	Q92502-2;Q92502	.;STAR8_HUMAN	E	336;416;336	ENSP00000252336:G336E;ENSP00000363727:G416E;ENSP00000363725:G336E	ENSP00000252336:G336E	G	+	2	0	STARD8	67854728	0.000000	0.05858	0.750000	0.31169	0.778000	0.44026	0.152000	0.16302	0.263000	0.21812	-0.380000	0.06706	GGA		0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		13	13	0	0	0	1	0	13	13				
IQSEC3	440073	broad.mit.edu	37	12	247960	247960	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:247960C>T	ENST00000538872.1	+	4	1549	c.1431C>T	c.(1429-1431)caC>caT	p.H477H	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.H477H|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.H174H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	477					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCGGCCCACAGCGGGACCC	0.746																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1429-1431)caC>caT		IQ motif and Sec7 domain 3							24.0	24.0	24.0					12																	247960		2201	4297	6498	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247960C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1431C>T	12.37:g.247960C>T						IQSEC3_ENST00000326261.4_Silent_p.H477H|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.H174H	p.H477H			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1549	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		477					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.1431C>T	CCDS53728.1																																																																																				0.746	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		10	28	0	0	0	1	0	10	28				
USP10	9100	broad.mit.edu	37	16	84806171	84806171	+	Missense_Mutation	SNP	C	C	G	rs199959868		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:84806171C>G	ENST00000219473.7	+	12	2136	c.2023C>G	c.(2023-2025)Ctg>Gtg	p.L675V	USP10_ENST00000570191.1_Missense_Mutation_p.L679V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	675	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGAGTGACTCTGGAAAAACT	0.473																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2023-2025)Ctg>Gtg		ubiquitin specific peptidase 10		C	VAL/LEU	0,4076		0,0,2038	213.0	215.0	214.0		2023	3.4	1.0	16		214	1,8369		0,1,4184	yes	missense	USP10	NM_005153.2	32	0,1,6222	GG,GC,CC		0.0119,0.0,0.0080	possibly-damaging	675/799	84806171	1,12445	2038	4185	6223	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84806171C>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2023C>G	16.37:g.84806171C>G	ENSP00000219473:p.Leu675Val					USP10_ENST00000570191.1_Missense_Mutation_p.L679V	p.L675V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			12	2136	+			675					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.2023C>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329030	0.41197	0.0	1.19E-4	ENSG00000103194	ENST00000219473	T	0.35421	1.31	4.38	3.41	0.39046	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.083337	0.49305	D	0.000149	T	0.43590	0.1254	L	0.37850	1.14	0.54753	D	0.999989	D;D	0.67145	0.996;0.977	D;D	0.69824	0.933;0.966	T	0.35425	-0.9789	10	0.66056	D	0.02	-9.9444	7.2683	0.26242	0.0:0.7362:0.0:0.2638	.	679;675	Q14694-3;Q14694	.;UBP10_HUMAN	V	675	ENSP00000219473:L675V	ENSP00000219473:L675V	L	+	1	2	USP10	83363672	0.644000	0.27277	1.000000	0.80357	0.981000	0.71138	1.074000	0.30703	2.157000	0.67596	0.563000	0.77884	CTG		0.473	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			76	158	0	0	0	1	0	76	158				
TMEM117	84216	broad.mit.edu	37	12	44781846	44781846	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:44781846G>A	ENST00000266534.3	+	8	1063	c.936G>A	c.(934-936)ttG>ttA	p.L312L	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.L208L|TMEM117_ENST00000551577.1_Silent_p.*269*	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	312						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCCTCGTCTTGATTTTGGATC	0.338																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(934-936)ttG>ttA		transmembrane protein 117							51.0	53.0	52.0					12																	44781846		2202	4299	6501	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44781846G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.936G>A	12.37:g.44781846G>A						TMEM117_ENST00000536799.1_Silent_p.L208L|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_Silent_p.*269*	p.L312L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1063	+	Lung SC(27;0.192)		312						Silent	SNP	ENST00000266534.3	37	c.936G>A	CCDS8745.1																																																																																				0.338	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		19	50	0	0	0	1	0	19	50				
HPCAL1	3241	broad.mit.edu	37	2	10559926	10559926	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:10559926G>T	ENST00000381765.3	+	4	569	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	HPCAL1_ENST00000307845.3_Missense_Mutation_p.D15Y	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	15					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGTGCTGCAGGACCTGCGGGA	0.667																																					Pancreas(70;1384 1800 31595 46836)	ENST00000381765.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(43-45)Gac>Tac		hippocalcin-like 1							54.0	52.0	52.0					2																	10559926		2203	4300	6503	SO:0001583	missense	3241						calcium ion binding	g.chr2:10559926G>T		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.43G>T	2.37:g.10559926G>T	ENSP00000371184:p.Asp15Tyr					HPCAL1_ENST00000307845.3_Missense_Mutation_p.D15Y	p.D15Y	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	4	569	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		15					Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	c.43G>T	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604272	0.87157	.	.	ENSG00000115756	ENST00000423674;ENST00000307845;ENST00000381765	T;T;T	0.67523	-0.27;1.95;1.95	5.28	5.28	0.74379	EF-hand-like domain (1);	0.044396	0.85682	D	0.000000	T	0.81297	0.4793	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.83180	-0.0089	10	0.87932	D	0	.	18.9246	0.92540	0.0:0.0:1.0:0.0	.	15	P37235	HPCL1_HUMAN	Y	15	ENSP00000413689:D15Y;ENSP00000310749:D15Y;ENSP00000371184:D15Y	ENSP00000310749:D15Y	D	+	1	0	HPCAL1	10477377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.463000	0.83235	0.561000	0.74099	GAC		0.667	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		21	54	1	0	1.64113e-05	1	1.66777e-05	21	54				
RARA	5914	broad.mit.edu	37	17	38512358	38512358	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38512358G>A	ENST00000254066.5	+	9	1724	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	RARA_ENST00000394086.3_Silent_p.L439L|RARA_ENST00000425707.3_Silent_p.L326L|RARA_ENST00000394081.3_Silent_p.L418L|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Silent_p.L423L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	423					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGACACTCTGAGCGGACAGC	0.687			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	"""PML, ZNF145, TIF1, NUMA1, NPM1"""		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(1267-1269)ctG>ctA		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						6.0	7.0	7.0					17																	38512358		2125	4160	6285	SO:0001819	synonymous_variant	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38512358G>A	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1269G>A	17.37:g.38512358G>A						RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Silent_p.L439L|RARA_ENST00000425707.3_Silent_p.L326L|RARA_ENST00000394089.2_Silent_p.L423L|RARA_ENST00000394081.3_Silent_p.L418L	p.L423L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		9	1724	+		Breast(137;0.00328)	423					B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	c.1269G>A	CCDS11366.1																																																																																				0.687	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			3	7	0	0	0	1	0	3	7				
VPS37D	155382	broad.mit.edu	37	7	73085501	73085501	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:73085501C>T	ENST00000324941.4	+	4	685	c.551C>T	c.(550-552)aCc>aTc	p.T184I	VPS37D_ENST00000451519.1_Missense_Mutation_p.T99I	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGGCCCCCACCTCGGCTGCT	0.741																																						ENST00000324941.4																			0				central_nervous_system(1)|ovary(1)	2						c.(550-552)aCc>aTc		vacuolar protein sorting 37 homolog D (S. cerevisiae)							7.0	8.0	8.0					7																	73085501		1601	3586	5187	SO:0001583	missense	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085501C>T	AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.551C>T	7.37:g.73085501C>T	ENSP00000320416:p.Thr184Ile					VPS37D_ENST00000451519.1_Missense_Mutation_p.T99I	p.T184I	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN			4	685	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	184						Missense_Mutation	SNP	ENST00000324941.4	37	c.551C>T	CCDS43596.1	.	.	.	.	.	.	.	.	.	.	C	5.015	0.188504	0.09547	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.56275	0.47;1.48	3.97	3.97	0.46021	.	1.323970	0.05011	N	0.470880	T	0.35537	0.0935	N	0.08118	0	0.09310	N	1	P	0.44380	0.834	B	0.38655	0.278	T	0.28522	-1.0041	10	0.36615	T	0.2	.	11.3807	0.49754	0.0:1.0:0.0:0.0	.	184	Q86XT2	VP37D_HUMAN	I	184;99	ENSP00000320416:T184I;ENSP00000413337:T99I	ENSP00000320416:T184I	T	+	2	0	VPS37D	72723437	0.481000	0.25941	0.022000	0.16811	0.235000	0.25334	1.123000	0.31308	2.028000	0.59812	0.561000	0.74099	ACC		0.741	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		5	12	0	0	0	1	0	5	12				
FBN2	2201	broad.mit.edu	37	5	127854968	127854968	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:127854968C>G	ENST00000508053.1	-	11	1600	c.626G>C	c.(625-627)aGa>aCa	p.R209T	FBN2_ENST00000262464.4_Missense_Mutation_p.R209T|FBN2_ENST00000508989.1_Missense_Mutation_p.R176T			P35556	FBN2_HUMAN	fibrillin 2	209					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTCTTACCTCTTTCACACTG	0.373																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(625-627)aGa>aCa		fibrillin 2							73.0	70.0	71.0					5																	127854968		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127854968C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.626G>C	5.37:g.127854968C>G	ENSP00000424571:p.Arg209Thr					FBN2_ENST00000508989.1_Missense_Mutation_p.R176T|FBN2_ENST00000262464.4_Missense_Mutation_p.R209T	p.R209T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	11	1600	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	209					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.626G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661149	0.67700	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.90385	-2.66;-2.66;-2.66;1.83	5.17	5.17	0.71159	Matrix fibril-associated (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	N	0.01535	-0.81	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.981;0.981	D;D;D;D	0.83275	0.996;0.992;0.966;0.966	D	0.88450	0.3048	10	0.26408	T	0.33	.	18.8636	0.92282	0.0:1.0:0.0:0.0	.	176;209;176;209	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	209;209;176;209	ENSP00000262464:R209T;ENSP00000424571:R209T;ENSP00000425596:R176T;ENSP00000424753:R209T	ENSP00000262464:R209T	R	-	2	0	FBN2	127882867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.512000	0.81728	2.861000	0.98227	0.655000	0.94253	AGA		0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		20	50	0	0	0	1	0	20	50				
GTF2H1	2965	broad.mit.edu	37	11	18354640	18354640	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:18354640G>C	ENST00000265963.4	+	2	179	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.E7Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	7					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCATCTGAAGAAGTTTTGCT	0.408								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(19-21)Gaa>Caa	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							81.0	78.0	79.0					11																	18354640		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18354640G>C		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.19G>C	11.37:g.18354640G>C	ENSP00000265963:p.Glu7Gln					GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.E7Q	p.E7Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			2	179	+			7					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.19G>C	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081584	0.76528	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.25912	1.77;1.77	5.58	5.58	0.84498	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.29908	0.895	0.80722	D	1	B	0.31125	0.309	B	0.31390	0.129	T	0.02491	-1.1151	10	0.42905	T	0.14	-22.1788	19.5659	0.95393	0.0:0.0:1.0:0.0	.	7	P32780	TF2H1_HUMAN	Q	7	ENSP00000393638:E7Q;ENSP00000265963:E7Q	ENSP00000265963:E7Q	E	+	1	0	GTF2H1	18311216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.209000	0.95087	2.619000	0.88677	0.563000	0.77884	GAA		0.408	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		32	75	0	0	0	1	0	32	75				
GLI1	2735	broad.mit.edu	37	12	57857855	57857855	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:57857855G>A	ENST00000228682.2	+	3	265	c.174G>A	c.(172-174)gaG>gaA	p.E58E	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	58					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCCAGAGAGACCAACAGCT	0.577																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(172-174)gaG>gaA		GLI family zinc finger 1							139.0	129.0	132.0					12																	57857855		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57857855G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.174G>A	12.37:g.57857855G>A						GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	p.E58E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		3	265	+			58					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.174G>A	CCDS8940.1																																																																																				0.577	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		54	168	0	0	0	1	0	54	168				
AKAP1	8165	broad.mit.edu	37	17	55184348	55184348	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:55184348C>G	ENST00000337714.3	+	2	1756	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*	AKAP1_ENST00000571629.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000539273.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000314126.3_Nonsense_Mutation_p.S508*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.S508*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	508					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGACACTGCTCAGATTCTTTC	0.582																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(1522-1524)tCa>tGa		A kinase (PRKA) anchor protein 1							109.0	114.0	113.0					17																	55184348		2203	4300	6503	SO:0001587	stop_gained	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55184348C>G	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1523C>G	17.37:g.55184348C>G	ENSP00000337736:p.Ser508*					AKAP1_ENST00000314126.3_Nonsense_Mutation_p.S508*|AKAP1_ENST00000539273.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.S508*	p.S508*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1756	+	Breast(9;5.46e-08)		508					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Nonsense_Mutation	SNP	ENST00000337714.3	37	c.1523C>G	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	C	39	7.895217	0.98548	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	.	.	.	6.17	5.21	0.72293	.	0.310059	0.31809	N	0.007025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.7838	14.6413	0.68726	0.0:0.9311:0.0:0.0689	.	.	.	.	X	508;508;550;508	.	ENSP00000314075:S508X	S	+	2	0	AKAP1	52539347	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	2.907000	0.48743	1.635000	0.50512	0.655000	0.94253	TCA		0.582	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			54	158	0	0	0	1	0	54	158				
SMTN	6525	broad.mit.edu	37	22	31487662	31487662	+	Splice_Site	SNP	A	A	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:31487662A>C	ENST00000347557.2	+	11	1679	c.1461A>C	c.(1459-1461)gaA>gaC	p.E487D	SMTN_ENST00000333137.7_Splice_Site_p.E487D|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000358743.1_Splice_Site_p.E487D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	487					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCACTCAGAACTGACACTGG	0.632																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.e11-1		smoothelin							44.0	37.0	39.0					22																	31487662		2203	4299	6502	SO:0001630	splice_region_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31487662A>C	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1460-1A>C	22.37:g.31487662A>C						SMTN_ENST00000347557.2_Splice_Site_p.E487_splice|SMTN_ENST00000358743.1_Splice_Site_p.E487_splice	p.E487_splice	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			11	1679	+			487					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Splice_Site	SNP	ENST00000347557.2	37	c.1459_splice	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932407	0.73442	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.73258	-0.3;-0.73;-0.73	4.21	-0.408	0.12381	.	0.000000	0.34906	N	0.003587	T	0.75354	0.3838	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.994;0.999;0.994;0.999	D;D;D;D;D;D	0.81914	0.99;0.986;0.97;0.99;0.97;0.995	T	0.71421	-0.4598	10	0.72032	D	0.01	.	4.1088	0.10049	0.4043:0.2035:0.3922:0.0	.	543;541;479;487;487;487	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	D	487;487;487;485;479	ENSP00000351593:E487D;ENSP00000328635:E487D;ENSP00000329532:E487D	ENSP00000329393:E485D	E	+	3	2	SMTN	29817662	0.858000	0.29795	0.896000	0.35187	0.963000	0.63663	0.020000	0.13466	-0.022000	0.13986	0.379000	0.24179	GAA		0.632	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	Missense_Mutation	17	40	0	0	0	1	0	17	40				
DIS3L2	129563	broad.mit.edu	37	2	233198570	233198570	+	Silent	SNP	G	G	C	rs370261055		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:233198570G>C	ENST00000409307.1	+	16	2031	c.2031G>C	c.(2029-2031)tcG>tcC	p.S677S	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Silent_p.S677S					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCTGCTCGGGGCTGCTGC	0.657											OREG0015283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(2029-2031)tcG>tcC		DIS3 mitotic control homolog (S. cerevisiae)-like 2							64.0	71.0	69.0					2																	233198570		2168	4267	6435	SO:0001819	synonymous_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233198570G>C	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2031G>C	2.37:g.233198570G>C			OREG0015283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2364	DIS3L2_ENST00000409307.1_Silent_p.S677S|DIS3L2_ENST00000273009.6_Intron	p.S677S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	17	2307	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	677						Silent	SNP	ENST00000409307.1	37	c.2031G>C	CCDS42834.1																																																																																				0.657	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		30	106	0	0	0	1	0	30	106				
ZBTB17	7709	broad.mit.edu	37	1	16268624	16268624	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16268624G>T	ENST00000375743.4	-	16	2484	c.2252C>A	c.(2251-2253)gCg>gAg	p.A751E	ZBTB17_ENST00000537142.1_Missense_Mutation_p.A669E|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A758E	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	751	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGAAGTCCGCGTCTGTCTG	0.642																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(2272-2274)gCg>gAg		zinc finger and BTB domain containing 17							75.0	65.0	69.0					1																	16268624		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16268624G>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2252C>A	1.37:g.16268624G>T	ENSP00000364895:p.Ala751Glu					ZBTB17_ENST00000537142.1_Missense_Mutation_p.A669E|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A751E	p.A758E			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	16	2511	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	751			Interaction with HCFC1.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.2273C>A	CCDS165.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100443	0.56183	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.12672	2.7;2.66;2.93	4.71	4.71	0.59529	.	0.320119	0.29565	N	0.011799	T	0.10981	0.0268	N	0.08118	0	0.80722	D	1	P;P;B	0.47191	0.815;0.891;0.089	B;P;B	0.47044	0.363;0.535;0.026	T	0.14172	-1.0482	10	0.72032	D	0.01	.	13.4355	0.61082	0.0792:0.0:0.9208:0.0	.	758;669;751	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	E	751;758;670;669	ENSP00000364895:A751E;ENSP00000364885:A758E;ENSP00000438529:A669E	ENSP00000364885:A758E	A	-	2	0	ZBTB17	16141211	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.708000	0.84633	2.316000	0.78162	0.563000	0.77884	GCG		0.642	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		27	79	1	0	2.24059e-21	1	2.36324e-21	27	79				
UBXN6	80700	broad.mit.edu	37	19	4452474	4452474	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:4452474C>T	ENST00000301281.6	-	4	452	c.328G>A	c.(328-330)Gag>Aag	p.E110K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E57K|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	110						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GAGCCTTCCTCTCTGGGCTCA	0.657																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(328-330)Gag>Aag		UBX domain protein 6							62.0	53.0	56.0					19																	4452474		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4452474C>T	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.328G>A	19.37:g.4452474C>T	ENSP00000301281:p.Glu110Lys					UBXN6_ENST00000394765.3_Missense_Mutation_p.E57K	p.E110K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			4	452	-			110					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.328G>A	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851082	0.17034	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.42900	0.96;0.96	4.79	3.68	0.42216	.	0.433291	0.24742	N	0.035965	T	0.26448	0.0646	N	0.25380	0.74	0.34295	D	0.683681	B	0.23377	0.084	B	0.14578	0.011	T	0.26258	-1.0108	10	0.14656	T	0.56	-39.2723	11.5445	0.50685	0.0:0.8189:0.1811:0.0	.	110	Q9BZV1	UBXN6_HUMAN	K	110;57	ENSP00000301281:E110K;ENSP00000378246:E57K	ENSP00000301281:E110K	E	-	1	0	UBXN6	4403474	0.698000	0.27777	0.237000	0.24090	0.083000	0.17756	1.852000	0.39348	2.220000	0.72140	0.484000	0.47621	GAG		0.657	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		6	12	0	0	0	1	0	6	12				
OR4C3	256144	broad.mit.edu	37	11	48346918	48346918	+	Silent	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:48346918G>T	ENST00000319856.4	+	1	447	c.426G>T	c.(424-426)gtG>gtT	p.V142V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	115						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGCTCACAGTGATGGCTTATG	0.498																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(424-426)gtG>gtT		olfactory receptor, family 4, subfamily C, member 3							228.0	214.0	218.0					11																	48346918		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346918G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.426G>T	11.37:g.48346918G>T							p.V142V	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	447	+			115					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.426G>T	CCDS31489.1																																																																																				0.498	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		10	297	1	0	6.50621e-10	1	6.69325e-10	10	297				
OR9K2	441639	broad.mit.edu	37	12	55524474	55524474	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:55524474T>A	ENST00000305377.5	+	1	1010	c.922T>A	c.(922-924)Ttg>Atg	p.L308M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CACTCCCATGTTGAATCCTTT	0.358																																						ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(922-924)Ttg>Atg		olfactory receptor, family 9, subfamily K, member 2							133.0	128.0	129.0					12																	55524474		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524474T>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.922T>A	12.37:g.55524474T>A	ENSP00000307598:p.Leu308Met						p.L308M	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	1010	+			308					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.922T>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257985	0.59321	.	.	ENSG00000170605	ENST00000305377	T	0.49432	0.78	4.98	-3.33	0.04958	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000831	T	0.62865	0.2463	M	0.86953	2.85	0.29537	N	0.852359	D	0.89917	1.0	D	0.91635	0.999	T	0.58601	-0.7608	10	0.72032	D	0.01	-24.4499	5.5467	0.17067	0.3737:0.4241:0.0:0.2022	.	308	Q8NGE7	OR9K2_HUMAN	M	308	ENSP00000307598:L308M	ENSP00000307598:L308M	L	+	1	2	OR9K2	53810741	0.000000	0.05858	0.987000	0.45799	0.995000	0.86356	-3.392000	0.00487	-0.421000	0.07416	0.528000	0.53228	TTG		0.358	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			59	141	0	0	0	1	0	59	141				
ZNF609	23060	broad.mit.edu	37	15	64967313	64967313	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:64967313G>C	ENST00000326648.3	+	4	2388	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	754						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTCGAGCAGAGGAAGGCAA	0.488																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2260-2262)Gag>Cag		zinc finger protein 609							84.0	95.0	91.0					15																	64967313		2202	4296	6498	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967313G>C	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2260G>C	15.37:g.64967313G>C	ENSP00000316527:p.Glu754Gln						p.E754Q	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2388	+			754					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2260G>C	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894232	0.52121	.	.	ENSG00000180357	ENST00000326648	T	0.55760	0.5	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.70824	-0.4767	10	0.51188	T	0.08	-22.5932	20.2422	0.98381	0.0:0.0:1.0:0.0	.	754	O15014	ZN609_HUMAN	Q	754	ENSP00000316527:E754Q	ENSP00000316527:E754Q	E	+	1	0	ZNF609	62754366	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	GAG		0.488	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		37	120	0	0	0	1	0	37	120				
MYOM1	8736	broad.mit.edu	37	18	3086125	3086125	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:3086125G>C	ENST00000356443.4	-	30	4495	c.4162C>G	c.(4162-4164)Cat>Gat	p.H1388D	MYOM1_ENST00000261606.7_Missense_Mutation_p.H1292D|MYOM1_ENST00000400569.3_Missense_Mutation_p.H1388D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1388	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACACAATATGAGTCTCCTTC	0.353																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(4162-4164)Cat>Gat		myomesin 1							143.0	126.0	131.0					18																	3086125		1846	4092	5938	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3086125G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4162C>G	18.37:g.3086125G>C	ENSP00000348821:p.His1388Asp					MYOM1_ENST00000261606.7_Missense_Mutation_p.H1292D|MYOM1_ENST00000400569.3_Missense_Mutation_p.H1388D	p.H1388D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			30	4495	-			1388			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4162C>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	6.126	0.391555	0.11581	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.65178	-0.14;-0.14;-0.14	5.77	-1.17	0.09648	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845165	0.11219	N	0.586905	T	0.52581	0.1743	N	0.22421	0.69	0.09310	N	1	B;B	0.22683	0.06;0.073	B;B	0.34722	0.118;0.188	T	0.44283	-0.9338	10	0.18710	T	0.47	.	18.4538	0.90713	0.0:0.0:0.2621:0.7379	.	1292;1388	P52179-2;P52179	.;MYOM1_HUMAN	D	1388;1388;1292	ENSP00000348821:H1388D;ENSP00000383413:H1388D;ENSP00000261606:H1292D	ENSP00000261606:H1292D	H	-	1	0	MYOM1	3076125	0.063000	0.20901	0.062000	0.19696	0.973000	0.67179	0.787000	0.26858	-0.204000	0.10235	0.467000	0.42956	CAT		0.353	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		10	41	0	0	0	1	0	10	41				
SYNGAP1	8831	broad.mit.edu	37	6	33409032	33409032	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33409032G>C	ENST00000418600.2	+	12	2097	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E666Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E607Q|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	666					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTTTTTGTATGAGATCTCCAA	0.498																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1996-1998)Gag>Cag		synaptic Ras GTPase activating protein 1							146.0	125.0	132.0					6																	33409032		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33409032G>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1996G>C	6.37:g.33409032G>C	ENSP00000403636:p.Glu666Gln					SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E666Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E607Q	p.E666Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			12	2097	+			666					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1996G>C	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589384	0.86851	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.16743	2.32;2.32;2.32	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.42744	1.35	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.63957	0.834;0.92;0.92	T	0.00503	-1.1701	10	0.51188	T	0.08	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	666;666;666	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	Q	666;666;666;607	ENSP00000293748:E666Q;ENSP00000403636:E666Q;ENSP00000412475:E607Q	ENSP00000293748:E666Q	E	+	1	0	SYNGAP1	33517010	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.657000	0.98554	2.573000	0.86826	0.655000	0.94253	GAG		0.498	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		24	59	0	0	0	1	0	24	59				
SYNGAP1	8831	broad.mit.edu	37	6	33409098	33409098	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33409098G>C	ENST00000418600.2	+	12	2163	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E688Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E629Q|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	688					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTGGGCCGAGAGCTCTCCAC	0.552																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2062-2064)Gag>Cag		synaptic Ras GTPase activating protein 1							118.0	96.0	103.0					6																	33409098		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33409098G>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2062G>C	6.37:g.33409098G>C	ENSP00000403636:p.Glu688Gln					SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E688Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E629Q	p.E688Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			12	2163	+			688					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2062G>C	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315334	0.81358	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.19669	2.13;2.13;2.13	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.121540	0.56097	D	0.000037	T	0.35508	0.0934	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.994	T	0.03086	-1.1074	10	0.44086	T	0.13	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	688;688;688	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	Q	688;688;688;629	ENSP00000293748:E688Q;ENSP00000403636:E688Q;ENSP00000412475:E629Q	ENSP00000293748:E688Q	E	+	1	0	SYNGAP1	33517076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.573000	0.86826	0.655000	0.94253	GAG		0.552	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		18	49	0	0	0	1	0	18	49				
CHCHD1	118487	broad.mit.edu	37	10	75542190	75542190	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:75542190G>C	ENST00000372833.5	+	2	247	c.234G>C	c.(232-234)gcG>gcC	p.A78A	CHCHD1_ENST00000372837.3_Silent_p.A78A	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	78	CHCH.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					ATTGTGCCGCGAGGGCTCAGG	0.537																																						ENST00000372837.3																			0				breast(1)	1						c.(232-234)gcG>gcC		coiled-coil-helix-coiled-coil-helix domain containing 1							64.0	65.0	64.0					10																	75542190		2203	4300	6503	SO:0001819	synonymous_variant	118487					nucleus		g.chr10:75542190G>C	AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	23518	protein-coding gene	gene with protein product		608842	"""chromosome 10 open reading frame 34"""	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.234G>C	10.37:g.75542190G>C						CHCHD1_ENST00000372833.5_Silent_p.A78A	p.A78A			Q96BP2	CHCH1_HUMAN			2	263	+	Prostate(51;0.0112)		78			CHCH.			Silent	SNP	ENST00000372833.5	37	c.234G>C	CCDS7334.1																																																																																				0.537	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048676.1	XM_058325		16	66	0	0	0	1	0	16	66				
HMX2	3167	broad.mit.edu	37	10	124909241	124909241	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:124909241G>A	ENST00000339992.3	+	2	681	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	142					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CGGCGGCGCTGAGCGGCAGGC	0.672																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(424-426)Gag>Aag		H6 family homeobox 2							4.0	6.0	5.0					10																	124909241		1937	3921	5858	SO:0001583	missense	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909241G>A		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.424G>A	10.37:g.124909241G>A	ENSP00000341108:p.Glu142Lys						p.E142K	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	681	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	142					B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	37	c.424G>A	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104276	0.37145	.	.	ENSG00000188816	ENST00000339992	D	0.95656	-3.77	4.79	4.79	0.61399	Homeodomain-related (1);Homeodomain-like (1);	0.053766	0.64402	D	0.000001	D	0.86940	0.6054	N	0.08118	0	0.43214	D	0.995085	B	0.30482	0.281	B	0.21917	0.037	D	0.84783	0.0774	10	0.22109	T	0.4	.	11.5045	0.50456	0.0817:0.0:0.9183:0.0	.	142	A2RU54	HMX2_HUMAN	K	142	ENSP00000341108:E142K	ENSP00000341108:E142K	E	+	1	0	HMX2	124899231	1.000000	0.71417	0.981000	0.43875	0.198000	0.23893	6.033000	0.70925	2.475000	0.83589	0.655000	0.94253	GAG		0.672	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		9	10	0	0	0	1	0	9	10				
TUBGCP2	10844	broad.mit.edu	37	10	135094861	135094861	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:135094861G>C	ENST00000252936.3	-	16	2528	c.2489C>G	c.(2488-2490)tCa>tGa	p.S830*	TUBGCP2_ENST00000368563.2_Nonsense_Mutation_p.S830*|TUBGCP2_ENST00000543663.1_Nonsense_Mutation_p.S858*|TUBGCP2_ENST00000368562.1_Nonsense_Mutation_p.S423*|TUBGCP2_ENST00000417178.2_Nonsense_Mutation_p.S700*			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	830					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CAGGTGGGCTGAGAAGTTCTT	0.617																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2488-2490)tCa>tGa		tubulin, gamma complex associated protein 2							121.0	101.0	108.0					10																	135094861		2203	4300	6503	SO:0001587	stop_gained	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135094861G>C	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2489C>G	10.37:g.135094861G>C	ENSP00000252936:p.Ser830*					TUBGCP2_ENST00000368562.1_Nonsense_Mutation_p.S423*|TUBGCP2_ENST00000252936.3_Nonsense_Mutation_p.S830*|TUBGCP2_ENST00000417178.2_Nonsense_Mutation_p.S700*|TUBGCP2_ENST00000543663.1_Nonsense_Mutation_p.S858*	p.S830*	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	17	2845	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	830					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Nonsense_Mutation	SNP	ENST00000252936.3	37	c.2489C>G	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	G	40	8.441553	0.98813	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	.	.	.	4.49	4.49	0.54785	.	0.132359	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.9429	16.2846	0.82712	0.0:0.0:1.0:0.0	.	.	.	.	X	830;700;830;423;858	.	ENSP00000252936:S830X	S	-	2	0	TUBGCP2	134944851	1.000000	0.71417	0.919000	0.36401	0.884000	0.51177	6.383000	0.73172	2.518000	0.84900	0.561000	0.74099	TCA		0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			29	50	0	0	0	1	0	29	50				
C7orf60	154743	broad.mit.edu	37	7	112579651	112579651	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:112579651C>T	ENST00000297145.4	-	1	320	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	52							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTACCTTCTCGGTACTTCTT	0.617																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(154-156)cGa>cAa		chromosome 7 open reading frame 60							31.0	36.0	34.0					7																	112579651		2001	4143	6144	SO:0001583	missense	154743							g.chr7:112579651C>T		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.155G>A	7.37:g.112579651C>T	ENSP00000297145:p.Arg52Gln						p.R52Q	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			1	320	-			52					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.155G>A	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508337	0.85282	.	.	ENSG00000164603	ENST00000297145;ENST00000432572	.	.	.	5.04	5.04	0.67666	.	0.284305	0.35936	N	0.002896	T	0.46210	0.1381	L	0.31065	0.9	0.34462	D	0.701801	B	0.17667	0.023	B	0.08055	0.003	T	0.52931	-0.8509	9	0.33940	T	0.23	-7.4849	15.469	0.75426	0.0:1.0:0.0:0.0	.	52	Q1RMZ1	CG060_HUMAN	Q	52;8	.	ENSP00000297145:R52Q	R	-	2	0	C7orf60	112366887	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.318000	0.59190	2.634000	0.89283	0.456000	0.33151	CGA		0.617	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		19	60	0	0	0	1	0	19	60				
ZNF862	643641	broad.mit.edu	37	7	149559392	149559392	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:149559392G>A	ENST00000223210.4	+	7	3388	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1048					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCATGAACCGAATCAGGACC	0.602																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(3142-3144)cGa>cAa		zinc finger protein 862							49.0	59.0	56.0					7																	149559392		2149	4247	6396	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559392G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3143G>A	7.37:g.149559392G>A	ENSP00000223210:p.Arg1048Gln						p.R1048Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3388	+			1048					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.3143G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132953	0.56828	.	.	ENSG00000106479	ENST00000223210	T	0.23754	1.89	5.39	4.5	0.54988	HAT dimerisation (1);Ribonuclease H-like (1);	0.000000	0.48767	D	0.000172	T	0.37892	0.1020	L	0.54323	1.7	0.26963	N	0.965754	D	0.69078	0.997	P	0.58721	0.844	T	0.15925	-1.0420	10	0.41790	T	0.15	-8.5596	10.511	0.44862	0.0903:0.0:0.9097:0.0	.	1048	O60290	ZN862_HUMAN	Q	1048	ENSP00000223210:R1048Q	ENSP00000223210:R1048Q	R	+	2	0	ZNF862	149190325	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	0.813000	0.27225	1.253000	0.44018	0.655000	0.94253	CGA		0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		3	37	0	0	0	1	0	3	37				
CDKL3	51265	broad.mit.edu	37	5	133644119	133644119	+	Silent	SNP	G	G	A	rs370652552		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:133644119G>A	ENST00000265334.4	-	9	1192	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000536186.1_Silent_p.V63V|CDKL3_ENST00000523832.1_Silent_p.V358V|CDKL3_ENST00000435240.2_Silent_p.V63V|CDKL3_ENST00000609654.1_Silent_p.V169V|CDKL3_ENST00000521118.1_Silent_p.V358V|CDKL3_ENST00000523054.1_Silent_p.V169V|CDKL3_ENST00000435211.1_Silent_p.V358V|CDKL3_ENST00000609383.1_Silent_p.V63V|CDKL3_ENST00000521755.1_Nonsense_Mutation_p.Q42*	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	358					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATAACTCTGACTTTGATCT	0.348																																						ENST00000521755.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(124-126)Cag>Tag		cyclin-dependent kinase-like 3		G	,	1,3663		0,1,1831	56.0	53.0	54.0		1074,1074	3.6	1.0	5		54	0,8146		0,0,4073	no	coding-synonymous,coding-synonymous	CDKL3	NM_001113575.1,NM_016508.3	,	0,1,5904	AA,AG,GG		0.0,0.0273,0.0085	,	358/593,358/456	133644119	1,11809	1832	4073	5905	SO:0001819	synonymous_variant	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133644119G>A	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1074C>T	5.37:g.133644119G>A						CDKL3_ENST00000265334.4_Silent_p.V358V|CDKL3_ENST00000521118.1_Silent_p.V358V|CDKL3_ENST00000523054.1_Silent_p.V169V|CDKL3_ENST00000536186.1_Silent_p.V63V|CDKL3_ENST00000523832.1_Silent_p.V358V|CDKL3_ENST00000435240.2_Silent_p.V63V|CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000435211.1_Silent_p.V358V	p.Q42*			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	158	-			372			Protein kinase.		D3DQA0|D3DQA1|Q9P114	Nonsense_Mutation	SNP	ENST00000265334.4	37	c.124C>T	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775122	0.49786	2.73E-4	0.0	ENSG00000006837	ENST00000521755	.	.	.	5.42	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.5873	9.7504	0.40473	0.0:0.1533:0.6874:0.1593	.	.	.	.	X	42	.	ENSP00000427964:Q42X	Q	-	1	0	CDKL3	133672018	0.995000	0.38212	0.989000	0.46669	0.924000	0.55760	0.212000	0.17497	0.615000	0.30124	0.555000	0.69702	CAG		0.348	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		14	35	0	0	0	1	0	14	35				
TAF1L	138474	broad.mit.edu	37	9	32630678	32630678	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:32630678C>G	ENST00000242310.4	-	1	4989	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1634					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.E1634K(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATATCCTTCTCAAGTTGAGTC	0.448																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.E1634K(1)	skin(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4900-4902)Gag>Cag		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							140.0	136.0	137.0					9																	32630678		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630678C>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4900G>C	9.37:g.32630678C>G	ENSP00000418379:p.Glu1634Gln						p.E1634Q	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4989	-			1634					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4900G>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670495	0.67814	.	.	ENSG00000122728	ENST00000242310	T	0.45668	0.89	0.479	0.479	0.16796	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.70275	2.135	0.52501	D	0.999954	D	0.89917	1.0	D	0.85130	0.997	T	0.55848	-0.8076	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1634	Q8IZX4	TAF1L_HUMAN	Q	1634	ENSP00000418379:E1634Q	ENSP00000418379:E1634Q	E	-	1	0	TAF1L	32620678	1.000000	0.71417	0.981000	0.43875	0.597000	0.36814	4.713000	0.61895	0.507000	0.28148	0.195000	0.17529	GAG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			81	147	0	0	0	1	0	81	147				
TMEM63A	9725	broad.mit.edu	37	1	226034852	226034852	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:226034852C>T	ENST00000366835.3	-	24	2583	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	771					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCTGCTGCTGCTGCTGCGGAG	0.622																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2311-2313)caG>caA		transmembrane protein 63A							81.0	73.0	76.0					1																	226034852		2203	4299	6502	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034852C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2313G>A	1.37:g.226034852C>T							p.Q771Q	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2583	-	Breast(184;0.197)		771					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.2313G>A	CCDS31042.1																																																																																				0.622	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		63	128	0	0	0	1	0	63	128				
ITPR3	3710	broad.mit.edu	37	6	33660555	33660555	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33660555C>T	ENST00000374316.5	+	56	8569	c.7509C>T	c.(7507-7509)atC>atT	p.I2503I	ITPR3_ENST00000605930.1_Silent_p.I2503I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2503					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCTTCTTCATCGTCATCATCA	0.537																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7507-7509)atC>atT		inositol 1,4,5-trisphosphate receptor, type 3							201.0	163.0	176.0					6																	33660555		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33660555C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7509C>T	6.37:g.33660555C>T						ITPR3_ENST00000605930.1_Silent_p.I2503I	p.I2503I			Q14573	ITPR3_HUMAN			56	8569	+			2503					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7509C>T	CCDS4783.1																																																																																				0.537	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		37	78	0	0	0	1	0	37	78				
KMT2A	4297	broad.mit.edu	37	11	118370622	118370622	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:118370622G>T	ENST00000389506.5	+	24	6143	c.6143G>T	c.(6142-6144)gGa>gTa	p.G2048V	KMT2A_ENST00000534358.1_Missense_Mutation_p.G2051V|KMT2A_ENST00000354520.4_Missense_Mutation_p.G2010V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2048	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTCCTATTGGATATCAGTAA	0.428																																						ENST00000534358.1																			0											c.(6151-6153)gGa>gTa		lysine (K)-specific methyltransferase 2A							96.0	91.0	93.0					11																	118370622		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118370622G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6143G>T	11.37:g.118370622G>T	ENSP00000374157:p.Gly2048Val					KMT2A_ENST00000354520.4_Missense_Mutation_p.G2010V|KMT2A_ENST00000389506.5_Missense_Mutation_p.G2048V	p.G2051V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					24	6175	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6152G>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022294	0.75275	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.89343	-2.5;-2.5;-2.5	5.69	5.69	0.88448	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95872	0.8892	10	0.87932	D	0	.	19.812	0.96551	0.0:0.0:1.0:0.0	.	2051;2048	E9PQG7;Q03164	.;MLL1_HUMAN	V	2051;2048;2010;958	ENSP00000436786:G2051V;ENSP00000374157:G2048V;ENSP00000346516:G2010V	ENSP00000346516:G2010V	G	+	2	0	MLL	117875832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.905000	0.87416	2.685000	0.91497	0.655000	0.94253	GGA		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		25	83	1	0	4.22769e-11	1	4.39435e-11	25	83				
TTN	7273	broad.mit.edu	37	2	179422404	179422404	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179422404G>A	ENST00000591111.1	-	278	82978	c.82754C>T	c.(82753-82755)tCa>tTa	p.S27585L	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20286L|TTN_ENST00000460472.2_Missense_Mutation_p.S20161L|TTN_ENST00000342992.6_Missense_Mutation_p.S26658L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20353L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S29226L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27585	Fibronectin type-III 100. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACAAGCTGAATCTATATG	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87676-87678)tCa>tTa		titin							296.0	289.0	291.0					2																	179422404		1926	4128	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422404G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82754C>T	2.37:g.179422404G>A	ENSP00000465570:p.Ser27585Leu					TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S27585L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20353L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26658L|TTN_ENST00000359218.5_Missense_Mutation_p.S20286L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20161L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.S29226L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		328	87901	-			27585			Fibronectin type-III 113.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.87677C>T		.	.	.	.	.	.	.	.	.	.	G	16.55	3.155174	0.57259	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.66	5.66	0.87406	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84893	0.5573	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	D	0.87615	0.2506	9	0.87932	D	0	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	20161;20286;20353;27585	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	26658;20161;20353;20286;20158	ENSP00000343764:S26658L;ENSP00000434586:S20161L;ENSP00000340554:S20353L;ENSP00000352154:S20286L	ENSP00000340554:S20353L	S	-	2	0	TTN	179130650	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.922000	0.87538	2.826000	0.97356	0.655000	0.94253	TCA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	534	0	0	0	1	0	10	534				
SF3B3	23450	broad.mit.edu	37	16	70599151	70599151	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:70599151G>C	ENST00000302516.5	+	19	2858	c.2647G>C	c.(2647-2649)Gaa>Caa	p.E883Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	883					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCCAGCTGGAACAGAATGA	0.532																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2647-2649)Gaa>Caa		splicing factor 3b, subunit 3, 130kDa							79.0	78.0	78.0					16																	70599151		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70599151G>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2647G>C	16.37:g.70599151G>C	ENSP00000305790:p.Glu883Gln						p.E883Q	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			19	2858	+		Ovarian(137;0.0694)	883					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2647G>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751758	0.89753	.	.	ENSG00000189091	ENST00000302516	T	0.47869	0.83	5.96	5.96	0.96718	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.46614	1.455	0.80722	D	1	B	0.24721	0.11	B	0.32211	0.142	T	0.30650	-0.9971	10	0.21540	T	0.41	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	883	Q15393	SF3B3_HUMAN	Q	883	ENSP00000305790:E883Q	ENSP00000305790:E883Q	E	+	1	0	SF3B3	69156652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.789000	0.99068	2.832000	0.97577	0.655000	0.94253	GAA		0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		25	65	0	0	0	1	0	25	65				
DHX58	79132	broad.mit.edu	37	17	40263444	40263444	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:40263444C>G	ENST00000251642.3	-	4	462	c.240G>C	c.(238-240)ctG>ctC	p.L80L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	80	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCCCACTCAGGGTTGTCA	0.612																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(238-240)ctG>ctC		DEXH (Asp-Glu-X-His) box polypeptide 58							72.0	63.0	66.0					17																	40263444		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40263444C>G	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.240G>C	17.37:g.40263444C>G							p.L80L	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	462	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	80			Helicase ATP-binding.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.240G>C	CCDS11416.1																																																																																				0.612	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		11	47	0	0	0	1	0	11	47				
PTPRB	5787	broad.mit.edu	37	12	70953303	70953303	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:70953303C>G	ENST00000261266.5	-	16	3909	c.3880G>C	c.(3880-3882)Gag>Cag	p.E1294Q	PTPRB_ENST00000550857.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1204Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1424Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1511Q|PTPRB_ENST00000334414.6_Missense_Mutation_p.E1512Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1204Q	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1294	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACTGCAGCTCAAAGTCGTTG	0.498																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4534-4536)Gag>Cag		protein tyrosine phosphatase, receptor type, B							226.0	222.0	224.0					12																	70953303		1990	4170	6160	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953303C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3880G>C	12.37:g.70953303C>G	ENSP00000261266:p.Glu1294Gln					PTPRB_ENST00000550857.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1424Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1204Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1294Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1511Q	p.E1512Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		18	4578	-	Renal(347;0.236)		1294			Fibronectin type-III 17.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4534G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957445	0.73902	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;3.53	6.11	6.11	0.99139	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.145674	0.64402	D	0.000011	T	0.76814	0.4040	M	0.74258	2.255	0.80722	D	1	D;D;P;P;D;D;D	0.71674	0.998;0.995;0.867;0.822;0.998;0.997;0.959	D;D;P;P;D;D;P	0.74023	0.969;0.969;0.505;0.583;0.969;0.982;0.815	T	0.71056	-0.4703	10	0.30854	T	0.27	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	1204;1204;1391;1511;1512;1294;1424	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	Q	1512;1204;1424;1204;1204;1294;1511;1391	ENSP00000334928:E1512Q;ENSP00000393028:E1204Q;ENSP00000448058:E1424Q;ENSP00000438927:E1204Q;ENSP00000447302:E1204Q;ENSP00000261266:E1294Q;ENSP00000448349:E1511Q;ENSP00000446982:E1391Q	ENSP00000261266:E1294Q	E	-	1	0	PTPRB	69239570	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	7.365000	0.79537	2.906000	0.99361	0.655000	0.94253	GAG		0.498	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			66	131	0	0	0	1	0	66	131				
IGHV2-5	28457	broad.mit.edu	37	14	106494293	106494293	+	RNA	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106494293C>G	ENST00000390597.2	-	0	218									immunoglobulin heavy variable 2-5																		GCAAGCCACTCCAGGGCCTTT	0.557																																						ENST00000390597.2																			0																				67.0	67.0	67.0					14																	106494293		2000	4149	6149			28457							g.chr14:106494293C>G	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287		14.37:g.106494293C>G														0	218	-									RNA	SNP	ENST00000390597.2	37																																																																																						0.557	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		33	87	0	0	0	1	0	33	87				
LRP2	4036	broad.mit.edu	37	2	170028582	170028582	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:170028582G>A	ENST00000263816.3	-	58	11491	c.11206C>T	c.(11206-11208)Cgt>Tgt	p.R3736C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3736	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3736C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTGCCAACGAAGAGGGATG	0.468																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.R3736C(1)	breast(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11206-11208)Cgt>Tgt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						140.0	125.0	130.0					2																	170028582		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170028582G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11206C>T	2.37:g.170028582G>A	ENSP00000263816:p.Arg3736Cys						p.R3736C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	58	11491	-			3736			LDL-receptor class A 31.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11206C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645338	0.87859	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.95656	-3.77	5.93	5.06	0.68205	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99316	1.0905	10	0.87932	D	0	.	15.1848	0.72993	0.0674:0.0:0.9326:0.0	.	3736	P98164	LRP2_HUMAN	C	3736;431	ENSP00000263816:R3736C	ENSP00000263816:R3736C	R	-	1	0	LRP2	169736828	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.416000	0.73332	1.526000	0.49068	0.563000	0.77884	CGT		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		60	35	0	0	0	1	0	60	35				
EPHA10	284656	broad.mit.edu	37	1	38186220	38186220	+	Missense_Mutation	SNP	C	C	T	rs200157400		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38186220C>T	ENST00000373048.4	-	13	2214	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E234K|EPHA10_ENST00000427468.2_Missense_Mutation_p.E739K|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTGCCCCTCGTGCCGCTGT	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17658	0.0		0.0	False		,,,				2504	0.0					ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2215-2217)Gag>Aag		EPH receptor A10							16.0	19.0	18.0					1																	38186220		2042	4194	6236	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38186220C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2215G>A	1.37:g.38186220C>T	ENSP00000362139:p.Glu739Lys					EPHA10_ENST00000330210.7_Missense_Mutation_p.E234K|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E739K	p.E739K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			13	2214	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	739			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2215G>A	CCDS41305.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.5	4.163531	0.78226	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.61274	0.12;0.12;0.12	5.04	5.04	0.67666	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37906	N	0.001891	T	0.60958	0.2309	N	0.21583	0.68	0.80722	D	1	D	0.67145	0.996	P	0.58391	0.838	T	0.66980	-0.5786	10	0.87932	D	0	.	17.392	0.87434	0.0:1.0:0.0:0.0	.	739	Q5JZY3	EPHAA_HUMAN	K	234;739;739	ENSP00000330379:E234K;ENSP00000397746:E739K;ENSP00000362139:E739K	ENSP00000330379:E234K	E	-	1	0	EPHA10	37958807	1.000000	0.71417	0.926000	0.36857	0.639000	0.38242	5.992000	0.70609	2.355000	0.79922	0.467000	0.42956	GAG		0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		15	26	0	0	0	1	0	15	26				
UNC5C	8633	broad.mit.edu	37	4	96199475	96199475	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:96199475C>G	ENST00000453304.1	-	4	877	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	UNC5C_ENST00000504962.1_Missense_Mutation_p.E177Q|UNC5C_ENST00000506749.1_Missense_Mutation_p.E177Q	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	177	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.E177K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGACACTTCCTTTCCTAGG	0.408																																						ENST00000453304.1																			1	Substitution - Missense(1)	p.E177K(1)	ovary(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(529-531)Gaa>Caa		unc-5 homolog C (C. elegans)							152.0	135.0	141.0					4																	96199475		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96199475C>G	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.529G>C	4.37:g.96199475C>G	ENSP00000406022:p.Glu177Gln					UNC5C_ENST00000504962.1_Missense_Mutation_p.E177Q|UNC5C_ENST00000506749.1_Missense_Mutation_p.E177Q	p.E177Q	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	4	877	-		Hepatocellular(203;0.114)	177			Ig-like C2-type.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.529G>C	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173639	0.94807	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80675	0.4668	M	0.76002	2.32	0.80722	D	1	D;D;P	0.63880	0.993;0.961;0.906	P;P;P	0.59825	0.864;0.751;0.58	T	0.82228	-0.0561	10	0.72032	D	0.01	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	177;177;177	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	Q	177;136;177;177;177	ENSP00000406022:E177Q;ENSP00000426924:E177Q;ENSP00000426153:E177Q;ENSP00000425117:E177Q	ENSP00000328673:E136Q	E	-	1	0	UNC5C	96418498	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.776000	0.85560	2.654000	0.90174	0.563000	0.77884	GAA		0.408	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		23	58	0	0	0	1	0	23	58				
CASP8	841	broad.mit.edu	37	2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:202141586C>T	ENST00000432109.2	+	8	886	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000358485.4_Missense_Mutation_p.R292W|CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(874-876)Cgg>Tgg		caspase 8, apoptosis-related cysteine peptidase							79.0	76.0	77.0					2																	202141586		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202141586C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.697C>T	2.37:g.202141586C>T	ENSP00000412523:p.Arg233Trp	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Missense_Mutation_p.R233W|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L	p.R292W	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			7	1070	+			233					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.874C>T	CCDS2342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120327|3.120327	0.56613|0.56613	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000447616;ENST00000424461	D;D;D;D;D;D|.	0.84223|.	-1.53;-1.53;-1.82;-1.82;-1.53;-1.53|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase C14, caspase precursor p45, core (2);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	0.194920|.	0.44097|.	D|.	0.000497|.	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.24514|0.24514	N|N	0.994191|0.994191	D;D;D;D;D;D|D;P	0.89917|0.62365	1.0;1.0;1.0;1.0;1.0;1.0|0.991;0.931	D;D;D;D;D;D|P;B	0.91635|0.45753	0.994;0.987;0.997;0.998;0.999;0.997|0.492;0.356	T|T	0.10428|0.10428	-1.0630|-1.0630	10|8	0.66056|0.33141	D|T	0.02|0.24	.|.	12.1349|12.1349	0.53966|0.53966	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	233;218;292;233;218;250|196;211	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4|Q14790-6;Q14790-5	.;.;.;CASP8_HUMAN;.;.|.;.	W|L	218;233;250;115;292;218;218|211;196;211;196;59	ENSP00000376091:R218W;ENSP00000412523:R233W;ENSP00000264275:R250W;ENSP00000391709:R115W;ENSP00000351273:R292W;ENSP00000325722:R218W|.	ENSP00000264275:R250W|ENSP00000376087:S211L	R|S	+|+	1|2	2|0	CASP8|CASP8	201849831|201849831	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.328000|0.328000	0.28507|0.28507	1.051000|1.051000	0.30417|0.30417	2.624000|2.624000	0.88883|0.88883	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.428	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		45	32	0	0	0	1	0	45	32				
SLX4IP	128710	broad.mit.edu	37	20	10603802	10603802	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:10603802G>A	ENST00000334534.5	+	8	1182	c.1002G>A	c.(1000-1002)ttG>ttA	p.L334L		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	334																	TCAGGGTTTTGCCAGCTTCAG	0.448																																						ENST00000334534.5																			0											c.(1000-1002)ttG>ttA		SLX4 interacting protein							69.0	80.0	76.0					20																	10603802		2203	4300	6503	SO:0001819	synonymous_variant	128710							g.chr20:10603802G>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1002G>A	20.37:g.10603802G>A							p.L334L	NM_001009608.1	NP_001009608.1					8	1182	+								Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	c.1002G>A	CCDS33439.1																																																																																				0.448	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		59	105	0	0	0	1	0	59	105				
RGMA	56963	broad.mit.edu	37	15	93595604	93595604	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:93595604C>T	ENST00000329082.7	-	3	535	c.264G>A	c.(262-264)cgG>cgA	p.R88R	RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.R96R|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000425933.2_Silent_p.R72R|RGMA_ENST00000542321.2_Silent_p.R72R|RGMA_ENST00000543599.1_Silent_p.R72R|RGMA_ENST00000556087.1_Silent_p.R72R|RGMA_ENST00000538818.1_5'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	88					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCGGGCCGTCCGCCGCGTGC	0.682																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(262-264)cgG>cgA		repulsive guidance molecule family member a							12.0	15.0	14.0					15																	93595604		2139	4229	6368	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595604C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.264G>A	15.37:g.93595604C>T						RGMA_ENST00000542321.2_Silent_p.R72R|RGMA_ENST00000425933.2_Silent_p.R72R|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000556087.1_Silent_p.R72R|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000543599.1_Silent_p.R72R|RGMA_ENST00000557301.1_Silent_p.R96R	p.R88R	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	535	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		88					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.264G>A	CCDS45357.1																																																																																				0.682	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		16	38	0	0	0	1	0	16	38				
ZFP42	132625	broad.mit.edu	37	4	188924281	188924281	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:188924281C>G	ENST00000326866.4	+	4	728	c.320C>G	c.(319-321)tCt>tGt	p.S107C	ZFP42_ENST00000509524.1_Missense_Mutation_p.S107C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	107					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CAACAGCTTTCTCAAAAGGTT	0.408																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(319-321)tCt>tGt		ZFP42 zinc finger protein							81.0	86.0	84.0					4																	188924281		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924281C>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.320C>G	4.37:g.188924281C>G	ENSP00000317686:p.Ser107Cys					ZFP42_ENST00000509524.1_Missense_Mutation_p.S107C	p.S107C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	728	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	107					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.320C>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361294	0.61403	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.66995	-0.24;-0.24	4.26	3.42	0.39159	.	0.587094	0.16593	N	0.207696	T	0.70272	0.3205	L	0.46157	1.445	0.30464	N	0.77397	D	0.67145	0.996	P	0.57371	0.819	T	0.69888	-0.5023	10	0.87932	D	0	.	10.2754	0.43507	0.0:0.9024:0.0:0.0976	.	107	Q96MM3	ZFP42_HUMAN	C	107	ENSP00000317686:S107C;ENSP00000424662:S107C	ENSP00000317686:S107C	S	+	2	0	ZFP42	189161275	0.001000	0.12720	0.154000	0.22540	0.106000	0.19336	0.937000	0.28951	1.397000	0.46682	0.655000	0.94253	TCT		0.408	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		46	107	0	0	0	1	0	46	107				
MYO5C	55930	broad.mit.edu	37	15	52561977	52561977	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:52561977C>G	ENST00000261839.7	-	8	1074	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Missense_Mutation_p.E248Q	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	305	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E305*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTTGAGTCTCTACCATTTCA	0.383																																						ENST00000261839.7																			1	Substitution - Nonsense(1)	p.E305*(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(913-915)Gag>Cag		myosin VC							199.0	181.0	187.0					15																	52561977		1873	4111	5984	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52561977C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.913G>C	15.37:g.52561977C>G	ENSP00000261839:p.Glu305Gln					MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Missense_Mutation_p.E248Q	p.E305Q	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	8	1074	-			305			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.913G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792926	0.50102	.	.	ENSG00000128833	ENST00000261839;ENST00000443683	D;D	0.87809	-2.3;-2.3	5.88	5.88	0.94601	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	L	0.49126	1.545	0.40767	D	0.983056	B	0.28178	0.202	B	0.32393	0.145	T	0.81497	-0.0906	10	0.25106	T	0.35	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	305	Q9NQX4	MYO5C_HUMAN	Q	305;248	ENSP00000261839:E305Q;ENSP00000410582:E248Q	ENSP00000261839:E305Q	E	-	1	0	MYO5C	50349269	0.423000	0.25482	0.967000	0.41034	0.536000	0.34869	1.216000	0.32443	2.778000	0.95560	0.655000	0.94253	GAG		0.383	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		59	117	0	0	0	1	0	59	117				
IKBKB	3551	broad.mit.edu	37	8	42183613	42183613	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:42183613G>C	ENST00000520810.1	+	20	2298	c.2112G>C	c.(2110-2112)aaG>aaC	p.K704N	IKBKB_ENST00000416505.2_Missense_Mutation_p.K645N|IKBKB_ENST00000379708.3_Missense_Mutation_p.K481N|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.K702N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	704					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CAGCCAAGAAGAGGTAGGTCC	0.562																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(2110-2112)aaG>aaC		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						77.0	64.0	68.0					8																	42183613		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42183613G>C	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.2112G>C	8.37:g.42183613G>C	ENSP00000430684:p.Lys704Asn					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.K702N|IKBKB_ENST00000416505.2_Missense_Mutation_p.K645N|IKBKB_ENST00000379708.3_Missense_Mutation_p.K481N	p.K704N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		20	2298	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	704					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.2112G>C	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	6.194	0.404001	0.11754	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75260	-0.84;-0.92;-0.73;2.89	5.72	-2.74	0.05932	.	0.283230	0.39615	N	0.001304	T	0.66346	0.2780	L	0.36672	1.1	0.40926	D	0.984352	B;B;D;B	0.57257	0.361;0.002;0.979;0.005	B;B;P;B	0.52109	0.051;0.008;0.69;0.002	T	0.64546	-0.6382	10	0.16420	T	0.52	-14.4349	11.4513	0.50154	0.5444:0.0:0.4556:0.0	.	645;702;481;704	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	N	704;645;702;481	ENSP00000430684:K704N;ENSP00000404920:K645N;ENSP00000430868:K702N;ENSP00000369030:K481N	ENSP00000369030:K481N	K	+	3	2	IKBKB	42302770	1.000000	0.71417	0.432000	0.26747	0.037000	0.13140	1.411000	0.34702	-0.771000	0.04608	-0.258000	0.10820	AAG		0.562	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			29	48	0	0	0	1	0	29	48				
WDR31	114987	broad.mit.edu	37	9	116094225	116094225	+	Silent	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:116094225T>C	ENST00000374193.4	-	3	324	c.78A>G	c.(76-78)aaA>aaG	p.K26K	WDR31_ENST00000341761.4_Silent_p.K26K|WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_Intron	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	26										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						TGCTTTGCTGTTTCCCCATCA	0.478																																						ENST00000374193.4																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(76-78)aaA>aaG		WD repeat domain 31							179.0	148.0	159.0					9																	116094225		2203	4300	6503	SO:0001819	synonymous_variant	114987							g.chr9:116094225T>C	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.78A>G	9.37:g.116094225T>C						WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000341761.4_Silent_p.K26K|WDR31_ENST00000461942.1_Intron	p.K26K	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			3	324	-			26					Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	c.78A>G	CCDS35110.1																																																																																				0.478	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		36	75	0	0	0	1	0	36	75				
ZNF107	51427	broad.mit.edu	37	7	64166960	64166960	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:64166960G>C	ENST00000395391.1	+	4	1653	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF107_ENST00000423627.1_Missense_Mutation_p.R93T|ZNF107_ENST00000344930.3_Missense_Mutation_p.R93T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATTCAAATAGATATAAGAGA	0.308																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(277-279)aGa>aCa		zinc finger protein 107							32.0	32.0	32.0					7																	64166960		2203	4297	6500	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166960G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.278G>C	7.37:g.64166960G>C	ENSP00000378789:p.Arg93Thr					ZNF107_ENST00000423627.1_Missense_Mutation_p.R93T|ZNF107_ENST00000344930.3_Missense_Mutation_p.R93T	p.R93T			Q9UII5	ZN107_HUMAN			4	1653	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	93						Missense_Mutation	SNP	ENST00000395391.1	37	c.278G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	8.331	0.826517	0.16749	.	.	ENSG00000196247	ENST00000541526;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.35236	1.32;1.32;1.32	0.916	-1.16	0.09678	.	.	.	.	.	T	0.33614	0.0869	L	0.43757	1.38	0.09310	N	1	P	0.43024	0.798	P	0.49665	0.618	T	0.24548	-1.0157	8	.	.	.	.	4.1161	0.10083	0.0:0.0:0.393:0.6069	.	93	Q9UII5	ZN107_HUMAN	T	93	ENSP00000343443:R93T;ENSP00000400037:R93T;ENSP00000378789:R93T	.	R	+	2	0	ZNF107	63804395	0.000000	0.05858	0.182000	0.23118	0.178000	0.23041	-4.924000	0.00169	0.300000	0.22699	0.305000	0.20034	AGA		0.308	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		24	53	0	0	0	1	0	24	53				
C21orf33	8209	broad.mit.edu	37	21	45553636	45553636	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45553636G>A	ENST00000291577.6	+	1	150	c.57G>A	c.(55-57)acG>acA	p.T19T	C21orf33_ENST00000427803.2_Silent_p.T19T|C21orf33_ENST00000348499.5_Silent_p.T19T|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	19						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CTGCATTCACGTCCCTGTCCC	0.721																																						ENST00000291577.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(55-57)acG>acA		chromosome 21 open reading frame 33							38.0	31.0	33.0					21																	45553636		2196	4298	6494	SO:0001819	synonymous_variant	8209					mitochondrion		g.chr21:45553636G>A	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.57G>A	21.37:g.45553636G>A						C21orf33_ENST00000427803.2_Silent_p.T19T|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Silent_p.T19T	p.T19T	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	1	150	+			19					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000291577.6	37	c.57G>A	CCDS33580.1																																																																																				0.721	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		3	11	0	0	0	1	0	3	11				
OR2M4	26245	broad.mit.edu	37	1	248402323	248402323	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:248402323C>T	ENST00000306687.1	+	1	93	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	31					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCTCTGGTCCTGGGCATCT	0.478																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(91-93)gtC>gtT		olfactory receptor, family 2, subfamily M, member 4							142.0	143.0	143.0					1																	248402323		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402323C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.93C>T	1.37:g.248402323C>T							p.V31V	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	93	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		31					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.93C>T	CCDS31108.1																																																																																				0.478	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		43	96	0	0	0	1	0	43	96				
NCAPD2	9918	broad.mit.edu	37	12	6635459	6635459	+	Missense_Mutation	SNP	C	C	G	rs562898088	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:6635459C>G	ENST00000315579.5	+	20	3287	c.2488C>G	c.(2488-2490)Ctg>Gtg	p.L830V	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.L785V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	830					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ACAGCCTTCTCTGGGCAAACG	0.562													C|||	5	0.000998403	0.0	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.0051					ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2488-2490)Ctg>Gtg		non-SMC condensin I complex, subunit D2							105.0	101.0	103.0					12																	6635459		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6635459C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2488C>G	12.37:g.6635459C>G	ENSP00000325017:p.Leu830Val					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.L785V	p.L830V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			20	3287	+			830					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2488C>G	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.229903	0.22542	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.91631	-2.88;-2.88;-2.88	5.39	2.38	0.29361	Armadillo-type fold (1);	0.660403	0.15185	N	0.275913	D	0.84469	0.5479	L	0.29908	0.895	0.20196	N	0.999926	B;B;B	0.25486	0.127;0.005;0.012	B;B;B	0.27076	0.076;0.007;0.005	T	0.71656	-0.4527	10	0.28530	T	0.3	-8.8009	5.7514	0.18148	0.2489:0.5621:0.1206:0.0683	.	785;791;830	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	V	830;702;785;702	ENSP00000325017:L830V;ENSP00000371895:L702V;ENSP00000444417:L785V	ENSP00000325017:L830V	L	+	1	2	NCAPD2	6505720	0.444000	0.25649	1.000000	0.80357	0.775000	0.43874	0.330000	0.19715	0.642000	0.30620	0.655000	0.94253	CTG		0.562	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		26	71	0	0	0	1	0	26	71				
GABPA	2551	broad.mit.edu	37	21	27136926	27136926	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:27136926C>T	ENST00000354828.3	+	9	1491	c.964C>T	c.(964-966)Cta>Tta	p.L322L	GABPA_ENST00000400075.3_Silent_p.L322L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	322					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCAAATCCAACTATGGCAGTT	0.413																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(964-966)Cta>Tta		GA binding protein transcription factor, alpha subunit 60kDa							92.0	85.0	87.0					21																	27136926		2203	4299	6502	SO:0001819	synonymous_variant	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27136926C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.964C>T	21.37:g.27136926C>T						GABPA_ENST00000400075.3_Silent_p.L322L	p.L322L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			9	1491	+			322					Q12939	Silent	SNP	ENST00000354828.3	37	c.964C>T	CCDS13575.1																																																																																				0.413	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		39	98	0	0	0	1	0	39	98				
AP1B1	162	broad.mit.edu	37	22	29745300	29745300	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:29745300C>T	ENST00000405198.1	-	10	1375	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	AP1B1_ENST00000432560.2_Missense_Mutation_p.M448I|AP1B1_ENST00000402502.1_Missense_Mutation_p.M448I|AP1B1_ENST00000357586.2_Missense_Mutation_p.M448I|AP1B1_ENST00000415447.1_Missense_Mutation_p.M448I|AP1B1_ENST00000356015.2_Missense_Mutation_p.M448I|AP1B1_ENST00000317368.7_Missense_Mutation_p.M448I			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	448					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATCCAGATCATGGCAGCCC	0.587																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1342-1344)atG>atA		adaptor-related protein complex 1, beta 1 subunit							110.0	96.0	101.0					22																	29745300		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29745300C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1344G>A	22.37:g.29745300C>T	ENSP00000384194:p.Met448Ile					AP1B1_ENST00000356015.2_Missense_Mutation_p.M448I|AP1B1_ENST00000317368.7_Missense_Mutation_p.M448I|AP1B1_ENST00000405198.1_Missense_Mutation_p.M448I|AP1B1_ENST00000432560.2_Missense_Mutation_p.M448I|AP1B1_ENST00000415447.1_Missense_Mutation_p.M448I|AP1B1_ENST00000402502.1_Missense_Mutation_p.M448I	p.M448I	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			11	1530	-			448					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1344G>A	CCDS13855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194688|4.194688	0.78902|0.78902	.|.	.|.	ENSG00000100280|ENSG00000100280	ENST00000415756|ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	.|T;T;T;T;T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20981|0.20981	0.0505|0.0505	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;B;B;D;P	.|0.58268	.|0.859;0.029;0.029;0.982;0.737	.|P;B;B;P;P	.|0.61397	.|0.888;0.011;0.011;0.816;0.525	T|T	0.00688|0.00688	-1.1609|-1.1609	5|10	.|0.46703	.|T	.|0.11	-44.4877|-44.4877	19.2884|19.2884	0.94089|0.94089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1;448;448;448;448	.|B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.|.;.;.;AP1B1_HUMAN;.	N|I	161|448	.|ENSP00000350199:M448I;ENSP00000348297:M448I;ENSP00000400065:M448I;ENSP00000384194:M448I;ENSP00000319361:M448I;ENSP00000386071:M448I;ENSP00000387612:M448I;ENSP00000400022:M448I	.|ENSP00000319361:M448I	D|M	-|-	1|3	0|0	AP1B1|AP1B1	28075300|28075300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.587	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		37	79	0	0	0	1	0	37	79				
B2M	567	broad.mit.edu	37	15	45007842	45007842	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:45007842G>A	ENST00000558401.1	+	2	359	c.289G>A	c.(289-291)Gag>Aag	p.E97K	B2M_ENST00000559916.1_Missense_Mutation_p.E97K|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.E97K	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	97	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E97K(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAAAAAGATGAGTATGCCTG	0.418																																						ENST00000558401.1																			1	Substitution - Missense(1)	p.E97K(1)	breast(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(289-291)Gag>Aag		beta-2-microglobulin							141.0	136.0	137.0					15																	45007842		2198	4298	6496	SO:0001583	missense	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007842G>A	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.289G>A	15.37:g.45007842G>A	ENSP00000452780:p.Glu97Lys					B2M_ENST00000544417.1_Missense_Mutation_p.E97K|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E97K	p.E97K	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	359	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	97			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	c.289G>A	CCDS10113.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.80|12.80	2.045749|2.045749	0.36085|0.36085	.|.	.|.	ENSG00000166710|ENSG00000166710	ENST00000349264;ENST00000544417|ENST00000396754	T|.	0.02863|.	4.13|.	5.82|5.82	-2.84|-2.84	0.05751|0.05751	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	2.069020|.	0.01527|.	N|.	0.018631|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.25825|0.25825	0.765|0.765	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.013;0.001|.	B;B|.	0.21360|.	0.034;0.004|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|6	0.35671|0.87932	T|D	0.21|0	.|.	1.1708|1.1708	0.01825|0.01825	0.3457:0.2521:0.2733:0.1289|0.3457:0.2521:0.2733:0.1289	.|.	97;97|.	F5H6I0;P61769|.	.;B2MG_HUMAN|.	K|I	97|96	ENSP00000437604:E97K|.	ENSP00000340858:E97K|ENSP00000379978:M96I	E|M	+|+	1|3	0|0	B2M|B2M	42795134|42795134	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.976000|-0.976000	0.03786|0.03786	-0.565000|-0.565000	0.06061|0.06061	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		77	143	0	0	0	1	0	77	143				
TTC22	55001	broad.mit.edu	37	1	55253400	55253400	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:55253400C>G	ENST00000371276.4	-	3	826	c.723G>C	c.(721-723)gaG>gaC	p.E241D	TTC22_ENST00000371274.4_Missense_Mutation_p.E241D	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	241										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGCGGGGGTCCTCGGACTTCA	0.657																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(721-723)gaG>gaC		tetratricopeptide repeat domain 22							37.0	35.0	35.0					1																	55253400		2203	4300	6503	SO:0001583	missense	55001						binding	g.chr1:55253400C>G	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.723G>C	1.37:g.55253400C>G	ENSP00000360323:p.Glu241Asp					TTC22_ENST00000371274.4_Missense_Mutation_p.E241D	p.E241D	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			3	826	-			241					Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.723G>C	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	3.748	-0.052219	0.07362	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T	0.45668	0.89;2.29	4.3	-8.59	0.00893	Tetratricopeptide-like helical (1);	0.747332	0.12836	N	0.435202	T	0.12050	0.0293	N	0.04508	-0.205	0.09310	N	1	B;B	0.16396	0.017;0.0	B;B	0.12156	0.007;0.001	T	0.21348	-1.0248	10	0.11182	T	0.66	-14.5308	4.5845	0.12275	0.0913:0.1064:0.2734:0.529	.	241;241	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	D	241;241;22	ENSP00000360323:E241D;ENSP00000360321:E241D	ENSP00000360321:E241D	E	-	3	2	TTC22	55025988	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-3.059000	0.00624	-2.015000	0.00947	0.462000	0.41574	GAG		0.657	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		8	21	0	0	0	1	0	8	21				
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:53303413C>T	ENST00000457749.2	-	4	1804	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R509H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1525-1527)cGc>cAc		zinc finger protein 28							106.0	102.0	103.0					19																	53303413		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303413C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1685G>A	19.37:g.53303413C>T	ENSP00000397693:p.Arg562His					ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H	p.R509H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2419	-			562					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1526G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.397880	0.01175	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	L	0.28054	0.825	0.09310	N	1	B	0.23185	0.081	B	0.09377	0.004	T	0.44329	-0.9335	9	0.10111	T	0.7	.	1.3099	0.02095	0.1329:0.3315:0.2293:0.3063	.	562	P17035	ZNF28_HUMAN	H	509;562;509;509;509	ENSP00000412143:R509H;ENSP00000397693:R562H;ENSP00000353410:R509H;ENSP00000444965:R509H;ENSP00000375661:R509H	ENSP00000353410:R509H	R	-	2	0	ZNF28	57995225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.084000	0.00082	-2.531000	0.00491	-0.490000	0.04691	CGC		0.413	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		45	151	0	0	0	1	0	45	151				
SEC22B	9554	broad.mit.edu	37	1	145103932	145103932	+	RNA	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:145103932C>G	ENST00000453618.1	+	0	427							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCAACAGTATCAGAGTCAGGC	0.413																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							79.0	72.0	74.0					1																	145103932		1939	4141	6080			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103932C>G	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103932C>G										O75396	SC22B_HUMAN			0	427	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.413	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	37	0	0	0	1	0	3	37				
PSME1	5720	broad.mit.edu	37	14	24606931	24606931	+	Silent	SNP	C	C	T	rs201795415		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24606931C>T	ENST00000206451.6	+	6	420	c.315C>T	c.(313-315)aaC>aaT	p.N105N	PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000561435.1_Silent_p.N105N|PSME1_ENST00000382708.3_Silent_p.N105N|RP11-468E2.5_ENST00000558478.1_lincRNA	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	105					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GCCCAGTGAACTGCAATGAAA	0.522																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(313-315)aaC>aaT		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							136.0	130.0	132.0					14																	24606931		2203	4300	6503	SO:0001819	synonymous_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606931C>T		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.315C>T	14.37:g.24606931C>T						PSME1_ENST00000206451.6_Silent_p.N105N|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Silent_p.N105N|PSME1_ENST00000470718.1_3'UTR	p.N105N	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	6	378	+			105					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	37	c.315C>T	CCDS9612.1																																																																																				0.522	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		25	67	0	0	0	1	0	25	67				
PREX2	80243	broad.mit.edu	37	8	68982070	68982070	+	Splice_Site	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:68982070G>T	ENST00000288368.4	+	13	1721	c.1444G>T	c.(1444-1446)Ggt>Tgt	p.G482C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	482					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTACGTAGGGTGTAAGATT	0.303																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.e13-1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							189.0	193.0	191.0					8																	68982070		2203	4296	6499	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68982070G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1444-1G>T	8.37:g.68982070G>T						PREX2_ENST00000529398.1_3'UTR	p.G482_splice	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			13	1721	+			482					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37	c.1443_splice	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655807	0.88056	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.17213	2.29	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.055630	0.64402	D	0.000001	T	0.31670	0.0804	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01202	-1.1420	9	.	.	.	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	482;482;482	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	C	482	ENSP00000288368:G482C	.	G	+	1	0	PREX2	69144624	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.070000	0.71220	2.692000	0.91855	0.644000	0.83932	GGT		0.303	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation	24	145	1	0	1.42536e-11	1	1.48462e-11	24	145				
PRR7	80758	broad.mit.edu	37	5	176882799	176882799	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:176882799G>A	ENST00000323249.3	+	4	992	c.502G>A	c.(502-504)Gag>Aag	p.E168K	PRR7_ENST00000510492.1_Missense_Mutation_p.E168K|PRR7_ENST00000502922.1_Missense_Mutation_p.E168K	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	168	Pro-rich.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTATAGCGAGGTGCTCAC	0.667																																						ENST00000323249.3																			0											c.(502-504)Gag>Aag		proline rich 7 (synaptic)							13.0	17.0	16.0					5																	176882799		2144	4184	6328	SO:0001583	missense	80758					cell junction|integral to membrane|postsynaptic membrane		g.chr5:176882799G>A	BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.502G>A	5.37:g.176882799G>A	ENSP00000327168:p.Glu168Lys					PRR7_ENST00000510492.1_Missense_Mutation_p.E168K|PRR7_ENST00000502922.1_Missense_Mutation_p.E168K	p.E168K	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	992	+	all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	168			Pro-rich.		Q8WU53|Q9BTA7	Missense_Mutation	SNP	ENST00000323249.3	37	c.502G>A	CCDS4419.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786051	0.70337	.	.	ENSG00000131188	ENST00000507881;ENST00000323249;ENST00000502922;ENST00000510492;ENST00000355386	T;T;T;T	0.61040	0.26;0.14;0.14;0.14	3.4	3.4	0.38934	.	0.000000	0.64402	D	0.000002	T	0.52175	0.1718	N	0.19112	0.55	0.37499	D	0.916687	D	0.62365	0.991	P	0.52066	0.689	T	0.63985	-0.6513	10	0.62326	D	0.03	-0.6896	14.0901	0.64984	0.0:0.0:1.0:0.0	.	168	Q8TB68	PRR7_HUMAN	K	168;168;168;168;148	ENSP00000426601:E168K;ENSP00000327168:E168K;ENSP00000420872:E168K;ENSP00000421039:E168K	ENSP00000327168:E168K	E	+	1	0	PRR7	176815405	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	6.470000	0.73558	1.897000	0.54924	0.467000	0.42956	GAG		0.667	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253435.1	NM_030567		10	22	0	0	0	1	0	10	22				
TTC24	164118	broad.mit.edu	37	1	156555792	156555792	+	Missense_Mutation	SNP	C	C	T	rs201685766		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:156555792C>T	ENST00000368237.3	+	9	1622	c.1622C>T	c.(1621-1623)gCg>gTg	p.A541V	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.A541V			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	541										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCAGAGCGGAGTACCCT	0.537																																						ENST00000368236.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20						c.(1621-1623)gCg>gTg		tetratricopeptide repeat domain 24		C	VAL/ALA	0,3790		0,0,1895	39.0	39.0	39.0		1622	-0.3	0.0	1		39	2,8250		0,2,4124	yes	missense	TTC24	NM_001105669.2	64	0,2,6019	TT,TC,CC		0.0242,0.0,0.0166	benign	541/583	156555792	2,12040	1895	4126	6021	SO:0001583	missense	164118						binding	g.chr1:156555792C>T		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1622C>T	1.37:g.156555792C>T	ENSP00000357220:p.Ala541Val					TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.A541V	p.A541V	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN			10	1658	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		541					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.1622C>T	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.150|0.150	-1.092240|-1.092240	0.01858|0.01858	0.0|0.0	2.42E-4|2.42E-4	ENSG00000187862|ENSG00000187862	ENST00000368236;ENST00000368237|ENST00000340086	T;T|.	0.22743|.	1.94;1.94|.	4.17|4.17	-0.26|-0.26	0.12967|0.12967	.|.	0.788765|.	0.10672|.	N|.	0.647477|.	T|T	0.03053|0.03053	0.0090|0.0090	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.42015|0.42015	-0.9476|-0.9476	10|5	0.20519|.	T|.	0.43|.	-4.391|-4.391	3.0746|3.0746	0.06242|0.06242	0.3712:0.1096:0.0:0.5192|0.3712:0.1096:0.0:0.5192	.|.	541|.	A2A3L6|.	TTC24_HUMAN|.	V|W	541|314	ENSP00000357219:A541V;ENSP00000357220:A541V|.	ENSP00000357219:A541V|.	A|R	+|+	2|1	0|2	TTC24|TTC24	154822416|154822416	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	-1.445000|-1.445000	0.02401|0.02401	0.226000|0.226000	0.20979|0.20979	-0.459000|-0.459000	0.05422|0.05422	GCG|CGG		0.537	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		5	12	0	0	0	1	0	5	12				
SPEG	10290	broad.mit.edu	37	2	220347553	220347553	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:220347553C>T	ENST00000312358.7	+	29	5745	c.5613C>T	c.(5611-5613)ttC>ttT	p.F1871F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1871					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAAGCTATTCCTCTCCCGGC	0.592																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5611-5613)ttC>ttT		SPEG complex locus							39.0	47.0	44.0					2																	220347553		2097	4221	6318	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220347553C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5613C>T	2.37:g.220347553C>T						SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.F1871F	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	29	5745	+		Renal(207;0.0183)	1871					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5613C>T	CCDS42824.1																																																																																				0.592	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		17	30	0	0	0	1	0	17	30				
PADI3	51702	broad.mit.edu	37	1	17603149	17603149	+	Silent	SNP	C	C	G	rs201961308		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597																																						ENST00000375460.3																			1	Substitution - coding silent(1)	p.P481P(1)	lung(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1441-1443)ccC>ccG		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						127.0	110.0	116.0					1																	17603149		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603149C>G	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1443C>G	1.37:g.17603149C>G							p.P481P	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1483	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	481					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.1443C>G	CCDS179.1																																																																																				0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			31	75	0	0	0	1	0	31	75				
C17orf58	284018	broad.mit.edu	37	17	65988155	65988155	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:65988155G>C	ENST00000449250.2	-	3	357	c.168C>G	c.(166-168)ctC>ctG	p.L56L	C17orf58_ENST00000536693.1_3'UTR|C17orf58_ENST00000334461.7_3'UTR|RP11-855A2.5_ENST00000580729.1_lincRNA			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	56										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCAGGACCTGGAGCAGAGCTG	0.502																																						ENST00000449250.2																			0				lung(2)	2						c.(166-168)ctC>ctG		chromosome 17 open reading frame 58							96.0	95.0	96.0					17																	65988155		1916	4114	6030	SO:0001819	synonymous_variant	284018							g.chr17:65988155G>C	AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.168C>G	17.37:g.65988155G>C						C17orf58_ENST00000536693.1_3'UTR|C17orf58_ENST00000334461.7_3'UTR	p.L56L			Q2M2W7	CQ058_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	357	-	all_cancers(12;4.57e-10)		56					A8MQV2	Silent	SNP	ENST00000449250.2	37	c.168C>G	CCDS45765.1																																																																																				0.502	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448104.1	NM_181656		28	114	0	0	0	1	0	28	114				
RELN	5649	broad.mit.edu	37	7	103206813	103206813	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:103206813C>T	ENST00000428762.1	-	33	4953	c.4794G>A	c.(4792-4794)atG>atA	p.M1598I	RELN_ENST00000343529.5_Missense_Mutation_p.M1598I|RELN_ENST00000424685.2_Missense_Mutation_p.M1598I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1598					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTCATTCATTCCTATAA	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(4792-4794)atG>atA		reelin							94.0	92.0	92.0					7																	103206813		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103206813C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4794G>A	7.37:g.103206813C>T	ENSP00000392423:p.Met1598Ile					RELN_ENST00000343529.5_Missense_Mutation_p.M1598I|RELN_ENST00000424685.2_Missense_Mutation_p.M1598I	p.M1598I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	4953	-			1598					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4794G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861477	0.71949	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.39997	1.05;1.93;1.05	6.08	6.08	0.98989	.	0.038217	0.85682	D	0.000000	T	0.61261	0.2333	M	0.70595	2.14	0.53688	D	0.999979	D;P	0.60575	0.988;0.783	P;P	0.58077	0.832;0.675	T	0.52675	-0.8544	10	0.29301	T	0.29	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1598;1598	P78509-2;P78509	.;RELN_HUMAN	I	1598	ENSP00000392423:M1598I;ENSP00000345694:M1598I;ENSP00000388446:M1598I	ENSP00000345694:M1598I	M	-	3	0	RELN	102994049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.894000	0.99253	0.655000	0.94253	ATG		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		30	95	0	0	0	1	0	30	95				
CAPSL	133690	broad.mit.edu	37	5	35910596	35910596	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35910596C>T	ENST00000397367.2	-	3	313	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	63	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(187-189)Gaa>Aaa		calcyphosine-like							70.0	72.0	71.0					5																	35910596		2202	4299	6501	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910596C>T	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.187G>A	5.37:g.35910596C>T	ENSP00000380524:p.Glu63Lys					CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K	p.E63K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		3	313	-	all_lung(31;0.000268)		63			EF-hand 1.			Missense_Mutation	SNP	ENST00000397367.2	37	c.187G>A	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	34	5.395781	0.96009	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.33	5.33	0.75918	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94023	0.8085	H	0.98111	4.15	0.80722	D	1	P	0.35551	0.509	P	0.56751	0.805	D	0.94905	0.8060	10	0.87932	D	0	-30.639	19.0145	0.92888	0.0:1.0:0.0:0.0	.	63	Q8WWF8	CAPSL_HUMAN	K	63	ENSP00000380524:E63K;ENSP00000380523:E63K;ENSP00000424806:E63K;ENSP00000421018:E63K	ENSP00000380523:E63K	E	-	1	0	CAPSL	35946353	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.311000	0.78958	2.489000	0.83994	0.462000	0.41574	GAA		0.323	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		31	82	0	0	0	1	0	31	82				
MTPAP	55149	broad.mit.edu	37	10	30611428	30611428	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:30611428G>C	ENST00000263063.4	-	6	1154	c.1111C>G	c.(1111-1113)Cct>Gct	p.P371A	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.P501A	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	371					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATGCACCAGGAATACTACTT	0.428																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1501-1503)Cct>Gct		mitochondrial poly(A) polymerase							118.0	113.0	115.0					10																	30611428		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30611428G>C	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1111C>G	10.37:g.30611428G>C	ENSP00000263063:p.Pro371Ala					MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.P371A	p.P501A			Q9NVV4	PAPD1_HUMAN			7	1500	-			371					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1501C>G	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296793	0.81025	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.54479	0.57;0.57	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.70842	2.15	0.80722	D	1	D;D	0.69078	0.986;0.997	P;D	0.66847	0.819;0.947	T	0.64364	-0.6425	10	0.21014	T	0.42	-20.4113	19.6125	0.95613	0.0:0.0:1.0:0.0	.	501;371	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	A	501;371	ENSP00000350820:P501A;ENSP00000263063:P371A	ENSP00000263063:P371A	P	-	1	0	MTPAP	30651434	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.354000	0.73036	2.709000	0.92574	0.453000	0.30009	CCT		0.428	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		31	58	0	0	0	1	0	31	58				
ADAMTS1	9510	broad.mit.edu	37	21	28216919	28216919	+	Missense_Mutation	SNP	C	C	T	rs200809949	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:28216919C>T	ENST00000284984.3	-	1	809	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	119					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCGCCAGGTCGGTTTCCGGA	0.682											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(355-357)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 1							19.0	21.0	20.0					21																	28216919		2201	4299	6500	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28216919C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.355G>A	21.37:g.28216919C>T	ENSP00000284984:p.Asp119Asn		OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	800		p.D119N	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	1	809	-		Breast(209;0.000962)	119					D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.355G>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707429	0.68615	.	.	ENSG00000154734	ENST00000284984	T	0.05786	3.39	4.16	3.28	0.37604	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.09818	0.0241	L	0.59912	1.85	0.38641	D	0.951601	P	0.51147	0.942	P	0.48627	0.584	T	0.33445	-0.9868	9	0.19147	T	0.46	.	9.1772	0.37118	0.0:0.8244:0.0:0.1756	.	119	Q9UHI8	ATS1_HUMAN	N	119	ENSP00000284984:D119N	ENSP00000284984:D119N	D	-	1	0	ADAMTS1	27138790	1.000000	0.71417	0.804000	0.32291	0.379000	0.30106	2.795000	0.47861	0.961000	0.38030	0.555000	0.69702	GAC		0.682	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			4	17	0	0	0	1	0	4	17				
FAN1	22909	broad.mit.edu	37	15	31202864	31202864	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:31202864C>G	ENST00000362065.4	+	4	1714	c.1423C>G	c.(1423-1425)Cct>Gct	p.P475A	FAN1_ENST00000561607.1_Missense_Mutation_p.P475A|FAN1_ENST00000561594.1_Missense_Mutation_p.P475A|FAN1_ENST00000565466.1_Missense_Mutation_p.P475A	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	475					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCTTTCTGCTCCTGAACTAAA	0.393								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1423-1425)Cct>Gct	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							71.0	71.0	71.0					15																	31202864		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202864C>G		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1423C>G	15.37:g.31202864C>G	ENSP00000354497:p.Pro475Ala					FAN1_ENST00000561607.1_Missense_Mutation_p.P475A|FAN1_ENST00000561594.1_Missense_Mutation_p.P475A|FAN1_ENST00000565466.1_Missense_Mutation_p.P475A	p.P475A	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1714	+			475					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1423C>G	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578250	0.65878	.	.	ENSG00000198690	ENST00000362065	T	0.39997	1.05	5.49	3.54	0.40534	.	0.180659	0.49305	D	0.000148	T	0.44891	0.1315	L	0.42529	1.33	0.43662	D	0.996089	P;B;D	0.57899	0.8;0.206;0.981	B;B;P	0.54889	0.346;0.063;0.763	T	0.29366	-1.0014	10	0.38643	T	0.18	-13.3786	9.6405	0.39835	0.0:0.6652:0.2616:0.0732	.	475;475;475	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	A	475	ENSP00000354497:P475A	ENSP00000354497:P475A	P	+	1	0	FAN1	28990156	1.000000	0.71417	0.880000	0.34516	0.990000	0.78478	3.796000	0.55507	1.278000	0.44430	0.557000	0.71058	CCT		0.393	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		24	86	0	0	0	1	0	24	86				
ZFP30	22835	broad.mit.edu	37	19	38134169	38134169	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:38134169G>A	ENST00000351218.2	-	5	789	c.232C>T	c.(232-234)Cta>Tta	p.L78L	ZFP30_ENST00000392144.1_Silent_p.L78L|ZFP30_ENST00000514101.2_Silent_p.L78L|ZFP30_ENST00000589018.1_Silent_p.L77L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTACCTAGAGTCCATCTT	0.478																																						ENST00000351218.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(232-234)Cta>Tta		ZFP30 zinc finger protein							250.0	243.0	245.0					19																	38134169		2203	4300	6503	SO:0001819	synonymous_variant	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38134169G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.232C>T	19.37:g.38134169G>A						ZFP30_ENST00000392144.1_Silent_p.L78L|ZFP30_ENST00000589018.1_Silent_p.L77L|ZFP30_ENST00000514101.2_Silent_p.L78L	p.L78L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	789	-			78			KRAB.		Q58EY8	Silent	SNP	ENST00000351218.2	37	c.232C>T	CCDS33005.1																																																																																				0.478	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		92	241	0	0	0	1	0	92	241				
KPTN	11133	broad.mit.edu	37	19	47986450	47986450	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:47986450G>C	ENST00000338134.3	-	4	524	c.417C>G	c.(415-417)ctC>ctG	p.L139L	NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	139					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GAGTGAACTGGAGCTCCAGGT	0.612																																						ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(415-417)ctC>ctG		kaptin (actin binding protein)							129.0	143.0	138.0					19																	47986450		2120	4236	6356	SO:0001819	synonymous_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47986450G>C	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.417C>G	19.37:g.47986450G>C						KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	p.L139L	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	4	524	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	139					B3KN86|B4DQ76|Q96GT1	Silent	SNP	ENST00000338134.3	37	c.417C>G	CCDS42583.1																																																																																				0.612	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			73	196	0	0	0	1	0	73	196				
C22orf42	150297	broad.mit.edu	37	22	32545761	32545761	+	Missense_Mutation	SNP	C	C	G	rs563830942	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:32545761C>G	ENST00000382097.3	-	8	733	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	221										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCATATCTCTCCTTTGCCTGC	0.343																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(661-663)Gag>Cag		chromosome 22 open reading frame 42							31.0	32.0	31.0					22																	32545761		2195	4298	6493	SO:0001583	missense	150297							g.chr22:32545761C>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.661G>C	22.37:g.32545761C>G	ENSP00000371529:p.Glu221Gln					C22orf42_ENST00000490640.1_5'UTR	p.E221Q	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			8	733	-			221					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.661G>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	1.557	-0.537734	0.04082	.	.	ENSG00000205856	ENST00000382097	T	0.25749	1.78	.	.	.	.	.	.	.	.	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.19614	-1.0300	7	0.87932	D	0	.	.	.	.	.	221	Q6IC83	CV042_HUMAN	Q	221	ENSP00000371529:E221Q	ENSP00000371529:E221Q	E	-	1	0	C22orf42	30875761	0.002000	0.14202	0.003000	0.11579	0.143000	0.21401	0.394000	0.20834	-0.508000	0.06540	0.064000	0.15345	GAG		0.343	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		17	26	0	0	0	1	0	17	26				
SRRM1	10250	broad.mit.edu	37	1	24995838	24995838	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:24995838C>T	ENST00000323848.9	+	14	2279	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S667L|SRRM1_ENST00000374389.4_Missense_Mutation_p.S664L|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	655	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGTTCACCTTCATTATCATCC	0.557																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1963-1965)tCa>tTa		serine/arginine repetitive matrix 1							69.0	68.0	68.0					1																	24995838		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24995838C>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1964C>T	1.37:g.24995838C>T	ENSP00000326261:p.Ser655Leu					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S667L|SRRM1_ENST00000374389.4_Missense_Mutation_p.S664L	p.S655L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	14	2279	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	655			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1964C>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333373	0.60853	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.27720	1.65;1.65;1.65	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000057	T	0.52613	0.1745	L	0.50333	1.59	0.80722	D	1	D;P	0.61080	0.989;0.895	D;B	0.75020	0.985;0.354	T	0.44877	-0.9299	10	0.52906	T	0.07	-2.4895	20.009	0.97446	0.0:1.0:0.0:0.0	.	667;655	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	655;667;664	ENSP00000326261:S655L;ENSP00000391430:S667L;ENSP00000363510:S664L	ENSP00000326261:S655L	S	+	2	0	SRRM1	24868425	1.000000	0.71417	0.617000	0.29091	0.894000	0.52154	5.138000	0.64795	2.733000	0.93635	0.563000	0.77884	TCA		0.557	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		33	46	0	0	0	1	0	33	46				
CUX2	23316	broad.mit.edu	37	12	111745029	111745029	+	Silent	SNP	G	G	A	rs556240331		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:111745029G>A	ENST00000261726.6	+	12	1231	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	359					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGCCCAGTCTGACTATG	0.572																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1075-1077)caG>caA		cut-like homeobox 2							61.0	68.0	66.0					12																	111745029		1956	4157	6113	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111745029G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1077G>A	12.37:g.111745029G>A							p.Q359Q	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			12	1231	+			359					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1077G>A	CCDS41837.1																																																																																				0.572	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		24	32	0	0	0	1	0	24	32				
AHNAK	79026	broad.mit.edu	37	11	62295105	62295105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62295105C>A	ENST00000378024.4	-	5	7058	c.6784G>T	c.(6784-6786)Gaa>Taa	p.E2262*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2262					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACTTCTGGGCCCTCT	0.532																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6784-6786)Gaa>Taa		AHNAK nucleoprotein							267.0	269.0	269.0					11																	62295105		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62295105C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6784G>T	11.37:g.62295105C>A	ENSP00000367263:p.Glu2262*					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.E2262*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7058	-		Melanoma(852;0.155)	2262					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.6784G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	47	13.147217	0.99723	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	.	.	.	3.38	3.38	0.38709	.	1.390360	0.05469	U	0.552802	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.9766	0.41789	0.0:0.8959:0.0:0.1041	.	.	.	.	X	351;2262	.	ENSP00000244934:E351X	E	-	1	0	AHNAK	62051681	0.570000	0.26651	0.887000	0.34795	0.480000	0.33159	2.356000	0.44116	1.897000	0.54924	0.291000	0.19559	GAA		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		216	517	1	0	1.95632e-99	1	2.10778e-99	216	517				
DVL1	1855	broad.mit.edu	37	1	1275804	1275804	+	Missense_Mutation	SNP	G	G	A	rs144365982	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1275804G>A	ENST00000378888.5	-	6	969	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	DVL1_ENST00000378891.5_Missense_Mutation_p.R229W			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	229					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCGCCTGCCGAAGGCGCTGC	0.677																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(685-687)Cgg>Tgg		dishevelled segment polarity protein 1							26.0	33.0	31.0					1																	1275804		2200	4293	6493	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275804G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.685C>T	1.37:g.1275804G>A	ENSP00000368166:p.Arg229Trp					DVL1_ENST00000378891.5_Missense_Mutation_p.R229W	p.R229W			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	6	969	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	229					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.685C>T		.	.	.	.	.	.	.	.	.	.	G	14.24	2.475517	0.43942	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.05996	3.4;3.36	3.79	2.73	0.32206	.	0.393472	0.24254	N	0.040148	T	0.11196	0.0273	L	0.34521	1.04	0.46396	D	0.99902	D	0.67145	0.996	P	0.56612	0.802	T	0.03060	-1.1077	10	0.87932	D	0	.	11.9298	0.52839	0.0:0.0:0.6105:0.3895	.	229	O14640-2	.	W	229	ENSP00000368169:R229W;ENSP00000368166:R229W	ENSP00000368166:R229W	R	-	1	2	DVL1	1265667	0.843000	0.29541	0.722000	0.30670	0.394000	0.30568	1.293000	0.33353	0.725000	0.32318	0.306000	0.20318	CGG		0.677	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		7	14	0	0	0	1	0	7	14				
TGM6	343641	broad.mit.edu	37	20	2375932	2375932	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:2375932C>A	ENST00000202625.2	+	3	335	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	TGM6_ENST00000381423.1_Missense_Mutation_p.Q92K|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	92					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGGAGGCTCAGATGGAGAA	0.612																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(274-276)Cag>Aag		transglutaminase 6	L-Glutamine(DB00130)						69.0	57.0	61.0					20																	2375932		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375932C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.274C>A	20.37:g.2375932C>A	ENSP00000202625:p.Gln92Lys					TGM6_ENST00000381423.1_Missense_Mutation_p.Q92K|TGM6_ENST00000477505.1_Intron	p.Q92K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			3	335	+			92					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.274C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.189731	0.00302	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.81659	-1.52;-1.52	4.5	1.14	0.20703	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.879248	0.10056	N	0.721585	T	0.72510	0.3469	M	0.67517	2.055	0.09310	N	1	B;B	0.32573	0.325;0.376	B;B	0.30029	0.067;0.11	T	0.56135	-0.8029	10	0.06625	T	0.88	-6.9667	8.7808	0.34789	0.1595:0.5613:0.2792:0.0	.	92;92	O95932-2;O95932	.;TGM3L_HUMAN	K	92	ENSP00000202625:Q92K;ENSP00000370831:Q92K	ENSP00000202625:Q92K	Q	+	1	0	TGM6	2323932	0.184000	0.23200	0.004000	0.12327	0.027000	0.11550	1.214000	0.32419	0.503000	0.28060	-0.304000	0.09214	CAG		0.612	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		20	36	1	0	5.35267e-07	1	5.47283e-07	20	36				
IPO11	51194	broad.mit.edu	37	5	61745762	61745762	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:61745762C>T	ENST00000325324.6	+	4	417	c.248C>T	c.(247-249)tCa>tTa	p.S83L	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S123L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	83	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGTGCTCTCTCAGAGGAGGAG	0.323																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(247-249)tCa>tTa		importin 11							72.0	76.0	75.0					5																	61745762		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61745762C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.248C>T	5.37:g.61745762C>T	ENSP00000316651:p.Ser83Leu					IPO11_ENST00000409296.3_Missense_Mutation_p.S123L|KIF2A_ENST00000509663.2_Intron	p.S83L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	4	417	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	83			Importin N-terminal.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.248C>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504544	0.64410	.	.	ENSG00000086200	ENST00000514647;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.31420	0.93	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.14578	0.01;0.011	T	0.50171	-0.8859	10	0.24483	T	0.36	.	19.3721	0.94492	0.0:1.0:0.0:0.0	.	123;83	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	L	83;83;83;123	ENSP00000427129:S83L;ENSP00000316651:S83L;ENSP00000427274:S83L;ENSP00000386992:S123L	ENSP00000316651:S83L	S	+	2	0	IPO11	61781519	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.655000	0.67981	2.671000	0.90904	0.655000	0.94253	TCA		0.323	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		19	56	0	0	0	1	0	19	56				
TTN	7273	broad.mit.edu	37	2	179417290	179417290	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179417290C>T	ENST00000591111.1	-	285	85638	c.85414G>A	c.(85414-85416)Gat>Aat	p.D28472N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21173N|TTN_ENST00000460472.2_Missense_Mutation_p.D21048N|TTN_ENST00000342992.6_Missense_Mutation_p.D27545N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21240N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D30113N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28472	Fibronectin type-III 107. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGACAGGATCACTCAGTCCT	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(90337-90339)Gat>Aat		titin							75.0	71.0	72.0					2																	179417290		1915	4133	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417290C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85414G>A	2.37:g.179417290C>T	ENSP00000465570:p.Asp28472Asn					TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28472N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21240N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27545N|TTN_ENST00000359218.5_Missense_Mutation_p.D21173N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21048N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.D30113N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	90561	-			28472			Fibronectin type-III 119.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.90337G>A		.	.	.	.	.	.	.	.	.	.	C	22.1	4.245200	0.80024	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70587	0.3241	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.999	T	0.71351	-0.4619	9	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	21048;21173;21240;28472	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27545;21048;21240;21173;21045	ENSP00000343764:D27545N;ENSP00000434586:D21048N;ENSP00000340554:D21240N;ENSP00000352154:D21173N	ENSP00000340554:D21240N	D	-	1	0	TTN	179125536	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	57	0	0	0	1	0	26	57				
PAMR1	25891	broad.mit.edu	37	11	35454378	35454378	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:35454378G>A	ENST00000378880.2	-	11	2134	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PAMR1_ENST00000278360.3_Silent_p.I580I|PAMR1_ENST00000532848.1_Silent_p.I523I|PAMR1_ENST00000378878.3_Silent_p.I452I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	563	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGAGCTTCAGGATGGCGATGT	0.547																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1687-1689)atC>atT		peptidase domain containing associated with muscle regeneration 1							66.0	64.0	64.0					11																	35454378		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454378G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1689C>T	11.37:g.35454378G>A						PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I|PAMR1_ENST00000278360.3_Silent_p.I580I	p.I563I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			11	2134	-			563			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1689C>T	CCDS31460.1																																																																																				0.547	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		14	58	0	0	0	1	0	14	58				
ORC2	4999	broad.mit.edu	37	2	201814348	201814348	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:201814348G>C	ENST00000234296.2	-	5	506	c.257C>G	c.(256-258)tCt>tGt	p.S86C	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	86					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ACCTGTAGCAGAGCCATTTTT	0.259																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(256-258)tCt>tGt		origin recognition complex, subunit 2							46.0	46.0	46.0					2																	201814348		2202	4286	6488	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201814348G>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.257C>G	2.37:g.201814348G>C	ENSP00000234296:p.Ser86Cys					ORC2_ENST00000467605.1_5'UTR	p.S86C	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			5	506	-			86					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.257C>G	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832575	0.32421	.	.	ENSG00000115942	ENST00000234296;ENST00000410039	T;T	0.45276	1.49;0.9	5.71	2.74	0.32292	.	0.539612	0.21351	N	0.075966	T	0.30572	0.0769	L	0.27053	0.805	0.29169	N	0.877275	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.21965	-1.0230	10	0.46703	T	0.11	-3.1997	13.3797	0.60761	0.0:0.576:0.424:0.0	.	86;86	B4DYU9;Q13416	.;ORC2_HUMAN	C	86	ENSP00000234296:S86C;ENSP00000386390:S86C	ENSP00000234296:S86C	S	-	2	0	ORC2	201522593	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.842000	0.39250	0.702000	0.31825	0.585000	0.79938	TCT		0.259	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		13	70	0	0	0	1	0	13	70				
NOL8	55035	broad.mit.edu	37	9	95077661	95077661	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:95077661C>T	ENST00000535387.1	-	6	1245	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NOL8_ENST00000358855.4_Missense_Mutation_p.E348K|NOL8_ENST00000442668.2_Missense_Mutation_p.E416K|NOL8_ENST00000542053.1_Missense_Mutation_p.E348K|NOL8_ENST00000545558.1_Missense_Mutation_p.E416K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACAGTTTTCTCTATTTTTG	0.308																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1246-1248)Gaa>Aaa		nucleolar protein 8							25.0	21.0	22.0					9																	95077661		1803	4054	5857	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077661C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1246G>A	9.37:g.95077661C>T	ENSP00000441300:p.Glu416Lys					NOL8_ENST00000542053.1_Missense_Mutation_p.E348K|NOL8_ENST00000535387.1_Missense_Mutation_p.E416K|NOL8_ENST00000442668.2_Missense_Mutation_p.E416K|NOL8_ENST00000358855.4_Missense_Mutation_p.E348K	p.E416K			Q76FK4	NOL8_HUMAN			7	1738	-			416						Missense_Mutation	SNP	ENST00000535387.1	37	c.1246G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114371	0.01799	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.15603	2.67;2.66;2.67;2.92;2.66;2.41	5.69	2.24	0.28232	.	1.038600	0.07491	N	0.905578	T	0.06554	0.0168	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	10	0.02654	T	1	-8.7998	5.0523	0.14514	0.0:0.5091:0.1746:0.3163	.	416	Q76FK4	NOL8_HUMAN	K	416;418;348;416;416;348;416	ENSP00000401177:E416K;ENSP00000351723:E348K;ENSP00000441140:E416K;ENSP00000441300:E416K;ENSP00000440709:E348K;ENSP00000414112:E416K	ENSP00000351723:E348K	E	-	1	0	NOL8	94117482	0.003000	0.15002	0.016000	0.15963	0.426000	0.31534	0.456000	0.21859	1.213000	0.43380	0.655000	0.94253	GAA		0.308	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		12	29	0	0	0	1	0	12	29				
NT5DC1	221294	broad.mit.edu	37	6	116558226	116558226	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:116558226G>A	ENST00000319550.4	+	9	982	c.900G>A	c.(898-900)atG>atA	p.M300I		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	300							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TGAAGAAAATGACTGGCAAAC	0.493																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(898-900)atG>atA		5'-nucleotidase domain containing 1							52.0	47.0	49.0					6																	116558226		2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116558226G>A	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.900G>A	6.37:g.116558226G>A	ENSP00000326858:p.Met300Ile						p.M300I	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	9	982	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	300					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.900G>A	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066552	0.36470	.	.	ENSG00000178425	ENST00000319550	T	0.20069	2.1	4.38	4.38	0.52667	HAD-like domain (2);	0.037741	0.85682	D	0.000000	T	0.07279	0.0184	L	0.35593	1.075	0.54753	D	0.999983	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.15052	0.012;0.004;0.007	T	0.11348	-1.0591	10	0.22109	T	0.4	-20.9935	12.236	0.54516	0.0:0.1715:0.8285:0.0	.	250;300;300	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	I	300	ENSP00000326858:M300I	ENSP00000326858:M300I	M	+	3	0	NT5DC1	116664919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.152000	0.67230	0.650000	0.86243	ATG		0.493	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		14	41	0	0	0	1	0	14	41				
KPNA1	3836	broad.mit.edu	37	3	122168493	122168493	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:122168493G>C	ENST00000344337.6	-	9	1021	c.845C>G	c.(844-846)tCa>tGa	p.S282*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	282	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GGGTCCATCTGATAGATATGA	0.448																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(844-846)tCa>tGa		karyopherin alpha 1 (importin alpha 5)							82.0	77.0	79.0					3																	122168493		2203	4300	6503	SO:0001587	stop_gained	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122168493G>C	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.845C>G	3.37:g.122168493G>C	ENSP00000343701:p.Ser282*					KPNA1_ENST00000466923.1_5'UTR	p.S282*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	9	1021	-			282			Binding to RAG1.		D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.845C>G	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	38	7.070342	0.98044	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9592	17.703	0.88301	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000343701:S282X	S	-	2	0	KPNA1	123651183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	TCA		0.448	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		31	74	0	0	0	1	0	31	74				
KDM6A	7403	broad.mit.edu	37	X	44928826	44928826	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:44928826G>A	ENST00000377967.4	+	17	1967	c.1926G>A	c.(1924-1926)ggG>ggA	p.G642G	KDM6A_ENST00000543216.1_Silent_p.G563G|KDM6A_ENST00000536777.1_Silent_p.G597G|KDM6A_ENST00000382899.4_Silent_p.G649G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	642	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTTTTTAGGGGCTTCACAAAG	0.383			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1924-1926)ggG>ggA		lysine (K)-specific demethylase 6A							28.0	28.0	28.0					X																	44928826		2203	4298	6501	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44928826G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1926G>A	X.37:g.44928826G>A						KDM6A_ENST00000543216.1_Silent_p.G563G|KDM6A_ENST00000536777.1_Silent_p.G597G|KDM6A_ENST00000382899.4_Silent_p.G649G	p.G642G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	1967	+			642					Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.1926G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701407	0.30142	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.73969	0.3655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73572	-0.3940	4	.	.	.	-0.0734	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	T	240;285	.	.	A	+	1	0	KDM6A	44813770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.228000	0.78079	2.255000	0.74692	0.600000	0.82982	GCT		0.383	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		6	16	0	0	0	1	0	6	16				
GNL2	29889	broad.mit.edu	37	1	38047889	38047889	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38047889G>C	ENST00000373062.3	-	8	942	c.844C>G	c.(844-846)Cat>Gat	p.H282D		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	282	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGGCTTGCATGGAAAGCAAGT	0.448																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(844-846)Cat>Gat		guanine nucleotide binding protein-like 2 (nucleolar)							101.0	85.0	90.0					1																	38047889		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38047889G>C	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.844C>G	1.37:g.38047889G>C	ENSP00000362153:p.His282Asp						p.H282D	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			8	942	-		Myeloproliferative disorder(586;0.0393)	282					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.844C>G	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968459	0.92855	.	.	ENSG00000134697	ENST00000373062;ENST00000545489	T	0.13778	2.56	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05370	-1.0889	10	0.87932	D	0	-22.5364	19.6991	0.96045	0.0:0.0:1.0:0.0	.	282	Q13823	NOG2_HUMAN	D	282;123	ENSP00000362153:H282D	ENSP00000362153:H282D	H	-	1	0	GNL2	37820476	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.822000	0.99363	2.655000	0.90218	0.585000	0.79938	CAT		0.448	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		15	37	0	0	0	1	0	15	37				
DNAH17	8632	broad.mit.edu	37	17	76567788	76567788	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:76567788C>T	ENST00000585328.1	-	4	740	c.616G>A	c.(616-618)Gat>Aat	p.D206N	DNAH17_ENST00000389840.5_Missense_Mutation_p.D206N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	206	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCACATCCCGGATCTGG	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(616-618)Gat>Aat		dynein, axonemal, heavy chain 17							93.0	99.0	97.0					17																	76567788		2087	4220	6307	SO:0001583	missense	8632							g.chr17:76567788C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.616G>A	17.37:g.76567788C>T	ENSP00000465516:p.Asp206Asn					DNAH17_ENST00000585328.1_Missense_Mutation_p.D206N	p.D206N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		4	740	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.616G>A		.	.	.	.	.	.	.	.	.	.	C	14.41	2.526124	0.44969	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	5.13	5.13	0.70059	.	.	.	.	.	T	0.53850	0.1822	L	0.33792	1.035	0.34191	D	0.672066	.	.	.	.	.	.	T	0.60845	-0.7182	7	0.27785	T	0.31	.	18.1701	0.89743	0.0:1.0:0.0:0.0	.	.	.	.	N	206	ENSP00000374490:D206N	ENSP00000300671:D206N	D	-	1	0	DNAH17	74079383	0.964000	0.33143	1.000000	0.80357	0.916000	0.54674	4.197000	0.58413	2.374000	0.81015	0.561000	0.74099	GAT		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		34	77	0	0	0	1	0	34	77				
CRNN	49860	broad.mit.edu	37	1	152384626	152384626	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:152384626G>A	ENST00000271835.3	-	2	146	c.84C>T	c.(82-84)ctC>ctT	p.L28L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	28					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTCGGGTGAGCGCTGTGC	0.547																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(82-84)ctC>ctT		cornulin							146.0	127.0	134.0					1																	152384626		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152384626G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.84C>T	1.37:g.152384626G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.L28L	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	146	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		28					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.84C>T	CCDS1010.1																																																																																				0.547	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		42	92	0	0	0	1	0	42	92				
PCDHB6	56130	broad.mit.edu	37	5	140531996	140531996	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:140531996G>T	ENST00000231136.1	+	1	2158	c.2158G>T	c.(2158-2160)Gtg>Ttg	p.V720L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V584L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	720					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCCTCGGTGGGTCGCTA	0.647																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2158-2160)Gtg>Ttg									84.0	97.0	92.0					5																	140531996		2202	4300	6502	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531996G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2158G>T	5.37:g.140531996G>T	ENSP00000231136:p.Val720Leu					PCDHB6_ENST00000543635.1_Missense_Mutation_p.V584L	p.V720L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2158	+			720					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2158G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	0.653	-0.808809	0.02819	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.51817	0.69;0.74	4.45	1.6	0.23607	.	.	.	.	.	T	0.29491	0.0735	L	0.27975	0.815	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19289	-1.0310	9	0.29301	T	0.29	.	4.5233	0.11969	0.089:0.3828:0.4029:0.1253	.	720	Q9Y5E3	PCDB6_HUMAN	L	584;720	ENSP00000438466:V584L;ENSP00000231136:V720L	ENSP00000231136:V720L	V	+	1	0	PCDHB6	140512180	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.072000	0.14617	0.078000	0.16900	-0.265000	0.10407	GTG		0.647	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		84	242	1	0	3.59392e-34	1	3.83914e-34	84	242				
OR5D13	390142	broad.mit.edu	37	11	55541412	55541412	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:55541412G>C	ENST00000361760.1	+	1	499	c.499G>C	c.(499-501)Gac>Cac	p.D167H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	167						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTCTTGACTTATCGTT	0.423																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(499-501)Gac>Cac		olfactory receptor, family 5, subfamily D, member 13							145.0	142.0	143.0					11																	55541412		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541412G>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.499G>C	11.37:g.55541412G>C	ENSP00000354800:p.Asp167His						p.D167H	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	499	+		all_epithelial(135;0.196)	167					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.499G>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	4.828	0.153911	0.09185	.	.	ENSG00000198877	ENST00000361760	T	0.00107	8.72	3.3	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	2.938900	0.01818	U	0.033877	T	0.00073	0.0002	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19224	-1.0312	10	0.41790	T	0.15	1.1767	4.5214	0.11960	0.4235:0.3397:0.2368:0.0	.	167	Q8NGL4	OR5DD_HUMAN	H	167	ENSP00000354800:D167H	ENSP00000354800:D167H	D	+	1	0	OR5D13	55297988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.294000	0.00523	-0.064000	0.13043	-0.400000	0.06385	GAC		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		48	127	0	0	0	1	0	48	127				
MFSD6	54842	broad.mit.edu	37	2	191301273	191301273	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:191301273G>A	ENST00000392328.1	+	3	842	c.518G>A	c.(517-519)aGt>aAt	p.S173N	MFSD6_ENST00000281416.7_Missense_Mutation_p.S173N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	173					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACCAATGCAAGTCACCAGTTA	0.428																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(517-519)aGt>aAt		major facilitator superfamily domain containing 6							98.0	108.0	104.0					2																	191301273		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301273G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.518G>A	2.37:g.191301273G>A	ENSP00000376141:p.Ser173Asn					MFSD6_ENST00000281416.7_Missense_Mutation_p.S173N	p.S173N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	842	+			173					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.518G>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430067	0.25726	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.34072	1.38;1.38	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);	0.288882	0.44097	D	0.000499	T	0.38427	0.1040	L	0.53249	1.67	0.80722	D	1	P	0.46706	0.883	B	0.42188	0.379	T	0.09443	-1.0674	10	0.28530	T	0.3	-19.7257	18.3329	0.90276	0.0:0.0:1.0:0.0	.	173	Q6ZSS7	MFSD6_HUMAN	N	173	ENSP00000376141:S173N;ENSP00000281416:S173N	ENSP00000281416:S173N	S	+	2	0	MFSD6	191009518	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	6.564000	0.73969	2.810000	0.96702	0.650000	0.86243	AGT		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			33	73	0	0	0	1	0	33	73				
ESAM	90952	broad.mit.edu	37	11	124626548	124626548	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:124626548C>G	ENST00000278927.5	-	3	469	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	ESAM_ENST00000442070.2_Intron|RP11-677M14.3_ENST00000504932.2_RNA	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	114	Ig-like V-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		TGGAGACCCTCCAGCCGCAGG	0.542																																						ENST00000278927.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(340-342)Gag>Cag		endothelial cell adhesion molecule							82.0	78.0	79.0					11																	124626548		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124626548C>G	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.340G>C	11.37:g.124626548C>G	ENSP00000278927:p.Glu114Gln					ESAM_ENST00000442070.2_Intron	p.E114Q	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	3	469	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	114			Ig-like V-type.		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.340G>C	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	0.345	-0.948141	0.02304	.	.	ENSG00000149564	ENST00000278927	T	0.62788	0.0	5.63	-7.52	0.01341	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.213140	0.05525	N	0.562756	T	0.23370	0.0565	N	0.00289	-1.7	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.003;0.005	T	0.44651	-0.9314	10	0.12430	T	0.62	.	15.2179	0.73285	0.0:0.6392:0.1272:0.2336	.	114;114	F8WDW9;Q96AP7	.;ESAM_HUMAN	Q	114	ENSP00000278927:E114Q	ENSP00000278927:E114Q	E	-	1	0	ESAM	124131758	0.001000	0.12720	0.003000	0.11579	0.017000	0.09413	-0.182000	0.09726	-0.902000	0.03886	-0.147000	0.13772	GAG		0.542	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		34	92	0	0	0	1	0	34	92				
RGPD4	285190	broad.mit.edu	37	2	108487533	108487533	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:108487533G>T	ENST00000408999.3	+	20	3150	c.3073G>T	c.(3073-3075)Gat>Tat	p.D1025Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1025Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1025					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAGAAAGATGATGATGCCTA	0.383																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3073-3075)Gat>Tat		RANBP2-like and GRIP domain containing 4							1.0	2.0	2.0					2																	108487533		287	822	1109	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487533G>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3073G>T	2.37:g.108487533G>T	ENSP00000386810:p.Asp1025Tyr					RGPD4_ENST00000354986.4_Missense_Mutation_p.D1025Y	p.D1025Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3150	+			1025					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3073G>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	9.825	1.186745	0.21870	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.51071	0.72;0.73	2.33	1.37	0.22104	.	.	.	.	.	T	0.62380	0.2423	M	0.80183	2.485	0.30947	N	0.725147	D	0.58268	0.982	P	0.58454	0.839	T	0.64381	-0.6421	9	0.72032	D	0.01	-27.6141	9.5367	0.39226	0.0:0.2188:0.7812:0.0	.	1025	Q7Z3J3	RGPD4_HUMAN	Y	1025;1025;783	ENSP00000347081:D1025Y;ENSP00000386810:D1025Y	ENSP00000347081:D1025Y	D	+	1	0	RGPD4	107853965	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	6.517000	0.73759	0.279000	0.22186	0.162000	0.16502	GAT		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		139	346	1	0	3.27855e-105	1	3.53999e-105	139	346				
TMEM104	54868	broad.mit.edu	37	17	72832685	72832685	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:72832685G>A	ENST00000335464.5	+	10	1512	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.Q450Q|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	450						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGACACCCAGCTGGCCTTTG	0.632																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1348-1350)caG>caA		transmembrane protein 104							57.0	47.0	50.0					17																	72832685		2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72832685G>A	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1350G>A	17.37:g.72832685G>A						TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.Q450Q|TMEM104_ENST00000582773.1_Intron	p.Q450Q	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1512	+	all_lung(278;0.23)		450					Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.1350G>A	CCDS32723.1																																																																																				0.632	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		19	58	0	0	0	1	0	19	58				
SPRED1	161742	broad.mit.edu	37	15	38632026	38632026	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:38632026C>G	ENST00000299084.4	+	5	1372	c.512C>G	c.(511-513)tCa>tGa	p.S171*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	171					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATAGAAGCTCAAATATAAGA	0.408									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(511-513)tCa>tGa		sprouty-related, EVH1 domain containing 1							101.0	97.0	99.0					15																	38632026		2200	4297	6497	SO:0001587	stop_gained	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38632026C>G	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.512C>G	15.37:g.38632026C>G	ENSP00000299084:p.Ser171*						p.S171*	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	1372	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	171					B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	ENST00000299084.4	37	c.512C>G	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	C	42	9.238376	0.99110	.	.	ENSG00000166068	ENST00000299084	.	.	.	4.64	4.64	0.57946	.	0.430787	0.25011	N	0.033834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-11.5807	10.6905	0.45869	0.0:0.91:0.0:0.09	.	.	.	.	X	171	.	ENSP00000299084:S171X	S	+	2	0	SPRED1	36419318	0.964000	0.33143	0.997000	0.53966	0.982000	0.71751	1.778000	0.38614	2.287000	0.76781	0.585000	0.79938	TCA		0.408	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			31	69	0	0	0	1	0	31	69				
BTN3A2	11118	broad.mit.edu	37	6	26373231	26373231	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26373231G>A	ENST00000356386.2	+	6	1010	c.822G>A	c.(820-822)caG>caA	p.Q274Q	BTN3A2_ENST00000377708.2_Silent_p.Q274Q|BTN3A2_ENST00000396948.1_Silent_p.Q274Q|BTN3A2_ENST00000527422.1_Silent_p.Q274Q|BTN3A2_ENST00000508906.2_Silent_p.Q232Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Silent_p.Q251Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	274					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGAGACAACAGAAGGAAATAA	0.522																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(820-822)caG>caA		butyrophilin, subfamily 3, member A2							97.0	96.0	96.0					6																	26373231		2203	4300	6503	SO:0001819	synonymous_variant	11118					integral to membrane		g.chr6:26373231G>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.822G>A	6.37:g.26373231G>A						BTN3A2_ENST00000396948.1_Silent_p.Q274Q|BTN3A2_ENST00000396934.3_Silent_p.Q251Q|BTN3A2_ENST00000377708.2_Silent_p.Q274Q|BTN3A2_ENST00000508906.2_Silent_p.Q232Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Silent_p.Q274Q	p.Q274Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			6	1010	+			274					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	ENST00000356386.2	37	c.822G>A	CCDS4605.1																																																																																				0.522	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			34	97	0	0	0	1	0	34	97				
FAS	355	broad.mit.edu	37	10	90770295	90770295	+	Splice_Site	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:90770295G>C	ENST00000355279.2	+	5	443		c.e5-1		FAS_ENST00000313771.5_Splice_Site|FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000352159.4_Splice_Site|FAS_ENST00000355740.2_Splice_Site			P49327	FAS_HUMAN	Fas cell surface death receptor						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TTTTTTTCTAGATGTGAACAT	0.348																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18	GRCh37	CS991510	FAS	S		c.e5-1		Fas cell surface death receptor							98.0	99.0	99.0					10																	90770295		2203	4300	6503	SO:0001630	splice_region_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90770295G>C	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.444-1G>C	10.37:g.90770295G>C						FAS_ENST00000352159.4_Splice_Site|FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000355279.2_Splice_Site|FAS_ENST00000313771.5_Splice_Site		NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	5	663	+		Colorectal(252;0.0161)						Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000355279.2	37		CCDS7395.1	.	.	.	.	.	.	.	.	.	.	G	7.107	0.575212	0.13623	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3063	0.54904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAS	90760275	1.000000	0.71417	0.985000	0.45067	0.067000	0.16453	4.190000	0.58365	2.626000	0.88956	0.650000	0.86243	.		0.348	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2		Intron	17	39	0	0	0	1	0	17	39				
ARHGAP11A	9824	broad.mit.edu	37	15	32929088	32929088	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:32929088C>T	ENST00000361627.3	+	12	2836	c.2114C>T	c.(2113-2115)tCa>tTa	p.S705L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S516L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S516L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	705					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GACATTCATTCAAATATGCCA	0.299																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2113-2115)tCa>tTa		Rho GTPase activating protein 11A							28.0	31.0	30.0					15																	32929088		2198	4286	6484	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929088C>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2114C>T	15.37:g.32929088C>T	ENSP00000355090:p.Ser705Leu					ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S516L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S516L	p.S705L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2836	+		all_lung(180;1.3e-11)	705					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2114C>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	0.804	-0.754233	0.03041	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.08720	3.06	4.87	2.99	0.34606	.	0.611444	0.14177	N	0.336308	T	0.06416	0.0165	L	0.41710	1.295	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.30621	-0.9972	10	0.32370	T	0.25	.	3.3654	0.07202	0.1473:0.5639:0.1276:0.1612	.	705	Q6P4F7	RHGBA_HUMAN	L	705;516	ENSP00000355090:S705L	ENSP00000355090:S705L	S	+	2	0	ARHGAP11A	30716380	0.001000	0.12720	0.067000	0.19924	0.133000	0.20885	0.350000	0.20079	1.414000	0.47017	0.650000	0.86243	TCA		0.299	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		18	40	0	0	0	1	0	18	40				
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(748-750)Cag>Gag		major histocompatibility complex, class I, B							112.0	98.0	102.0					6																	31323241		2203	4300	6503	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323241G>C	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.748C>G	6.37:g.31323241G>C	ENSP00000399168:p.Gln250Glu						p.Q250E	NM_005514.6	NP_005505.2					4	776	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.748C>G	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	7.762	0.705516	0.15172	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.02472	4.28	3.16	3.16	0.36331	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.39834	U	0.001254	T	0.04770	0.0129	L	0.49513	1.565	0.27829	N	0.941517	D	0.52996	0.957	D	0.68039	0.955	T	0.06862	-1.0803	10	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	250	P01889	1B07_HUMAN	E	250;129;129	ENSP00000399168:Q250E	ENSP00000399168:Q250E	Q	-	1	0	HLA-B	31431220	0.998000	0.40836	0.983000	0.44433	0.035000	0.12851	3.446000	0.52928	1.804000	0.52760	0.442000	0.29010	CAG		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		9	159	0	0	0	1	0	9	159				
TAP1	6890	broad.mit.edu	37	6	32815823	32815823	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:32815823C>G	ENST00000354258.4	-	8	1954	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	TAP1_ENST00000425148.2_Missense_Mutation_p.G337A|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	598	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CCCATTGGGTCCCACCAGCGC	0.612																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1792-1794)gGa>gCa		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							47.0	38.0	41.0					6																	32815823		1508	2709	4217	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32815823C>G		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1793G>C	6.37:g.32815823C>G	ENSP00000346206:p.Gly598Ala					PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.G337A	p.G598A	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			8	1954	-			598			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1793G>C	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782607	0.90282	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.99861	-7.26;-7.26	5.3	5.3	0.74995	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.49916	D	0.000126	D	0.99912	0.9958	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96370	0.9273	10	0.87932	D	0	-4.5374	16.5093	0.84280	0.0:1.0:0.0:0.0	.	598	Q03518	TAP1_HUMAN	A	598;337	ENSP00000346206:G598A;ENSP00000401919:G337A	ENSP00000346206:G598A	G	-	2	0	TAP1	32923801	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.963000	0.63694	2.761000	0.94854	0.637000	0.83480	GGA		0.612	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		13	31	0	0	0	1	0	13	31				
TTC3	7267	broad.mit.edu	37	21	38520908	38520908	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:38520908G>A	ENST00000399017.2	+	23	4826	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	TTC3_ENST00000540756.1_Silent_p.K383K|TTC3_ENST00000355666.1_Silent_p.K693K|TTC3_ENST00000354749.2_Silent_p.K693K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	693					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATTGCTGGAAGAAGTTAAAAA	0.299																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(2077-2079)aaG>aaA		tetratricopeptide repeat domain 3							68.0	77.0	74.0					21																	38520908		2203	4296	6499	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38520908G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2079G>A	21.37:g.38520908G>A						TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Silent_p.K383K|TTC3_ENST00000355666.1_Silent_p.K693K|TTC3_ENST00000354749.2_Silent_p.K693K	p.K693K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			23	4826	+		Myeloproliferative disorder(46;0.0412)	693					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.2079G>A	CCDS13651.1																																																																																				0.299	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			30	82	0	0	0	1	0	30	82				
ZNF790	388536	broad.mit.edu	37	19	37310127	37310127	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:37310127T>A	ENST00000356725.4	-	5	1239	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATAAAGGCTTTTCCACATT	0.398																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1117-1119)aaA>aaT		zinc finger protein 790							75.0	72.0	73.0					19																	37310127		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310127T>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1119A>T	19.37:g.37310127T>A	ENSP00000349161:p.Lys373Asn					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.K373N	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1239	-	Esophageal squamous(110;0.183)		373						Missense_Mutation	SNP	ENST00000356725.4	37	c.1119A>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.918220	0.52546	.	.	ENSG00000197863	ENST00000356725	T	0.07908	3.15	2.97	-0.368	0.12537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	M	0.84219	2.685	0.27289	N	0.957881	D	0.89917	1.0	D	0.87578	0.998	T	0.04737	-1.0930	9	0.72032	D	0.01	.	7.5662	0.27881	0.0:0.3223:0.0:0.6777	.	373	Q6PG37	ZN790_HUMAN	N	373	ENSP00000349161:K373N	ENSP00000349161:K373N	K	-	3	2	ZNF790	42001967	0.001000	0.12720	0.998000	0.56505	0.938000	0.57974	-0.226000	0.09139	-0.021000	0.14009	0.260000	0.18958	AAA		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		45	80	0	0	0	1	0	45	80				
OR4E2	26686	broad.mit.edu	37	14	22133626	22133626	+	Silent	SNP	C	C	T	rs118047831	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:22133626C>T	ENST00000408935.1	+	1	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	110						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(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTGCCTGTGCCGAGATCTTTC	0.458													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		24667	0.0		0.001	False		,,,				2504	0.0					ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(328-330)gcC>gcT		olfactory receptor, family 4, subfamily E, member 2		C		12,4082		0,12,2035	229.0	212.0	218.0		330	-0.9	1.0	14	dbSNP_132	218	0,8428		0,0,4214	no	coding-synonymous	OR4E2	NM_001001912.1		0,12,6249	TT,TC,CC		0.0,0.2931,0.0958		110/314	22133626	12,12510	2047	4214	6261	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133626C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.330C>T	14.37:g.22133626C>T							p.A110A	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	330	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	110					Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.330C>T	CCDS41916.1																																																																																				0.458	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			82	220	0	0	0	1	0	82	220				
CDC6	990	broad.mit.edu	37	17	38451700	38451700	+	Silent	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38451700T>C	ENST00000209728.4	+	8	1647	c.1176T>C	c.(1174-1176)gaT>gaC	p.D392D		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	392					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AAGCACTGGATGTTTGCAGGT	0.398																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(1174-1176)gaT>gaC		cell division cycle 6							191.0	170.0	177.0					17																	38451700		2203	4300	6503	SO:0001819	synonymous_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451700T>C	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1176T>C	17.37:g.38451700T>C							p.D392D	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1647	+			392					Q8TB30	Silent	SNP	ENST00000209728.4	37	c.1176T>C	CCDS11365.1																																																																																				0.398	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			53	114	0	0	0	1	0	53	114				
ADAMTS12	81792	broad.mit.edu	37	5	33637805	33637805	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:33637805G>A	ENST00000504830.1	-	12	2100	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R589C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	589	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGCACAAGCGATAGCGTTTT	0.458										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1765-1767)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 12							131.0	121.0	124.0					5																	33637805		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33637805G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1765C>T	5.37:g.33637805G>A	ENSP00000422554:p.Arg589Cys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R589C|ADAMTS12_ENST00000504582.1_5'UTR	p.R589C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			12	2100	-			589			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1765C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617142	0.87359	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.56611	0.45;0.45	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.84641	0.0695	10	0.72032	D	0.01	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	589;589	P58397-3;P58397	.;ATS12_HUMAN	C	589	ENSP00000422554:R589C;ENSP00000344847:R589C	ENSP00000344847:R589C	R	-	1	0	ADAMTS12	33673562	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.244000	0.65400	2.880000	0.98712	0.650000	0.86243	CGC		0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		29	85	0	0	0	1	0	29	85				
CAPSL	133690	broad.mit.edu	37	5	35909972	35909972	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35909972C>G	ENST00000397367.2	-	4	647	c.521G>C	c.(520-522)gGa>gCa	p.G174A	CAPSL_ENST00000397366.1_Missense_Mutation_p.G174A|CAPSL_ENST00000514524.1_Missense_Mutation_p.G174A	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	174	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ACTTACCAATCCATCTTTGTC	0.353																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(520-522)gGa>gCa		calcyphosine-like							134.0	134.0	134.0					5																	35909972		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35909972C>G	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.521G>C	5.37:g.35909972C>G	ENSP00000380524:p.Gly174Ala					CAPSL_ENST00000514524.1_Missense_Mutation_p.G174A|CAPSL_ENST00000397366.1_Missense_Mutation_p.G174A	p.G174A	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	647	-	all_lung(31;0.000268)		174			EF-hand 4.			Missense_Mutation	SNP	ENST00000397367.2	37	c.521G>C	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726120	0.89298	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;T	0.83914	-1.78;-1.78;-1.78;-0.51	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	H	0.99074	4.42	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.97324	0.9946	10	0.87932	D	0	-22.2354	19.5711	0.95419	0.0:1.0:0.0:0.0	.	174	Q8WWF8	CAPSL_HUMAN	A	174	ENSP00000380524:G174A;ENSP00000380523:G174A;ENSP00000424806:G174A;ENSP00000421018:G174A	ENSP00000380523:G174A	G	-	2	0	CAPSL	35945729	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.459000	0.80802	2.632000	0.89209	0.455000	0.32223	GGA		0.353	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		48	108	0	0	0	1	0	48	108				
XRRA1	143570	broad.mit.edu	37	11	74559187	74559187	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:74559187C>T	ENST00000340360.6	-	15	2008	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Silent_p.K284K|XRRA1_ENST00000527087.1_Silent_p.K472K	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACTCTGTGCTCTTGGAGTCCT	0.577																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1675-1677)aaG>aaA		X-ray radiation resistance associated 1							72.0	73.0	73.0					11																	74559187		2107	4219	6326	SO:0001819	synonymous_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559187C>T	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1677G>A	11.37:g.74559187C>T						XRRA1_ENST00000527087.1_Silent_p.K472K|XRRA1_ENST00000321448.8_Silent_p.K284K	p.K559K	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			15	2008	-			559						Silent	SNP	ENST00000340360.6	37	c.1677G>A	CCDS44680.1																																																																																				0.577	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		12	23	0	0	0	1	0	12	23				
DDIAS	220042	broad.mit.edu	37	11	82642834	82642834	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:82642834G>A	ENST00000533655.1	+	6	666	c.454G>A	c.(454-456)Gac>Aac	p.D152N	C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Silent_p.L112L|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.D152N|C11orf82_ENST00000525388.1_Silent_p.L112L|C11orf82_ENST00000430323.2_Missense_Mutation_p.D152N|C11orf82_ENST00000528759.1_Silent_p.L58L	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		152					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCAATGCTCTGACCACAAAAG	0.388																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(454-456)Gac>Aac		chromosome 11 open reading frame 82							118.0	116.0	117.0					11																	82642834		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82642834G>A																												ENST00000533655.1:c.454G>A	11.37:g.82642834G>A	ENSP00000435421:p.Asp152Asn					C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.D152N|C11orf82_ENST00000528759.1_Silent_p.L58L|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.D152N|C11orf82_ENST00000525388.1_Silent_p.L112L|C11orf82_ENST00000524921.1_Silent_p.L112L	p.D152N	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	666	+			152					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.454G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993597	0.19043	.	.	ENSG00000165490	ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764	T;T	0.13901	2.55;2.55	5.59	0.338	0.15974	.	0.895847	0.09812	N	0.752736	T	0.07369	0.0186	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.11235	0.001;0.004	B;B	0.10450	0.003;0.005	T	0.41270	-0.9518	9	.	.	.	.	0.8583	0.01187	0.3341:0.268:0.2531:0.1448	.	152;152	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	N	152;152;152;213	ENSP00000414687:D152N;ENSP00000435421:D152N	.	D	+	1	0	C11orf82	82320482	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.418000	0.21230	0.724000	0.32296	-0.251000	0.11542	GAC		0.388	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			40	106	0	0	0	1	0	40	106				
OR8B3	390271	broad.mit.edu	37	11	124266389	124266389	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:124266389G>C	ENST00000354597.3	-	1	875	c.859C>G	c.(859-861)Ctc>Gtc	p.L287V		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGTAGATGAGAGGATTGAGC	0.363																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(859-861)Ctc>Gtc		olfactory receptor, family 8, subfamily B, member 3							85.0	93.0	90.0					11																	124266389		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266389G>C	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.859C>G	11.37:g.124266389G>C	ENSP00000346611:p.Leu287Val						p.L287V	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	875	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	287					Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.859C>G	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	0.816	-0.750362	0.03041	.	.	ENSG00000196661	ENST00000354597	T	0.39592	1.07	3.76	-3.89	0.04193	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.28300	0.0699	L	0.45698	1.435	0.09310	N	1	P	0.39748	0.686	B	0.40228	0.323	T	0.18147	-1.0346	10	0.66056	D	0.02	.	3.8696	0.09031	0.5074:0.1038:0.2837:0.1052	.	287	Q8NGG8	OR8B3_HUMAN	V	287	ENSP00000346611:L287V	ENSP00000346611:L287V	L	-	1	0	OR8B3	123771599	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.836000	0.00095	-0.933000	0.03737	-0.781000	0.03364	CTC		0.363	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		58	114	0	0	0	1	0	58	114				
PARP6	56965	broad.mit.edu	37	15	72543224	72543224	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:72543224C>T	ENST00000569795.1	-	18	2067	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	PARP6_ENST00000413097.2_Intron|PARP6_ENST00000260376.7_Silent_p.R460R|PARP6_ENST00000287196.9_Silent_p.R460R			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	460	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCTTGGCGGTCCGGAACCGAG	0.637																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1378-1380)cgG>cgA		poly (ADP-ribose) polymerase family, member 6							28.0	29.0	29.0					15																	72543224		1951	4132	6083	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72543224C>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1380G>A	15.37:g.72543224C>T						PARP6_ENST00000413097.2_Intron|PARP6_ENST00000260376.7_Silent_p.R460R|PARP6_ENST00000287196.9_Silent_p.R460R	p.R460R			Q2NL67	PARP6_HUMAN			18	2067	-			460			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.1380G>A	CCDS10241.2																																																																																				0.637	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		10	18	0	0	0	1	0	10	18				
RABEP1	9135	broad.mit.edu	37	17	5235282	5235282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:5235282C>T	ENST00000546142.2	+	3	389	c.202C>T	c.(202-204)Caa>Taa	p.Q68*	RABEP1_ENST00000537505.1_Nonsense_Mutation_p.Q25*|RABEP1_ENST00000341923.6_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000262477.6_Nonsense_Mutation_p.Q68*			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	68					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAAGCTGCACAAGATGATTT	0.433																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(202-204)Caa>Taa		rabaptin, RAB GTPase binding effector protein 1							117.0	106.0	110.0					17																	5235282		1911	4127	6038	SO:0001587	stop_gained	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5235282C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.202C>T	17.37:g.5235282C>T	ENSP00000437701:p.Gln68*					RABEP1_ENST00000341923.6_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.Q25*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.Q68*	p.Q68*	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			3	426	+			68					B2RAG7|O95369|Q8IVX3	Nonsense_Mutation	SNP	ENST00000546142.2	37	c.202C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	39	7.831808	0.98513	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	6.17	6.17	0.99709	.	0.050920	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-14.4061	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	68;68;68;68;68;25	.	ENSP00000262477:Q68X	Q	+	1	0	RABEP1	5176006	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.397000	0.79903	2.941000	0.99782	0.655000	0.94253	CAA		0.433	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		37	69	0	0	0	1	0	37	69				
PLEKHG3	26030	broad.mit.edu	37	14	65197600	65197600	+	Missense_Mutation	SNP	C	C	T	rs575204431		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:65197600C>T	ENST00000394691.1	+	6	797	c.650C>T	c.(649-651)tCg>tTg	p.S217L	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.S161L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	217	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTACAGCACTCGCTGCCCTTG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15013	0.0		0.0	False		,,,				2504	0.0					ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(481-483)tCg>tTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							34.0	37.0	36.0					14																	65197600		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197600C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.650C>T	14.37:g.65197600C>T	ENSP00000378183:p.Ser217Leu					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S217L	p.S161L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	790	+			217			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.482C>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.455089	0.84209	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.64438	-0.1;-0.1	4.88	4.88	0.63580	Dbl homology (DH) domain (5);	0.077051	0.53938	D	0.000050	T	0.72423	0.3458	M	0.70903	2.155	0.80722	D	1	P;P	0.47762	0.9;0.865	P;P	0.51833	0.681;0.553	T	0.76924	-0.2779	10	0.72032	D	0.01	.	17.1647	0.86812	0.0:1.0:0.0:0.0	.	217;161	A1L390;A1L390-3	PKHG3_HUMAN;.	L	161;217	ENSP00000247226:S161L;ENSP00000378183:S217L	ENSP00000247226:S161L	S	+	2	0	PLEKHG3	64267353	0.787000	0.28750	0.992000	0.48379	0.980000	0.70556	3.120000	0.50430	2.411000	0.81874	0.561000	0.74099	TCG		0.647	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		20	31	0	0	0	1	0	20	31				
ITGA2	3673	broad.mit.edu	37	5	52360866	52360866	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:52360866C>T	ENST00000296585.5	+	14	1870	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	576					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTGTTGGTTCACCACTAGAA	0.433																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1726-1728)tCa>tTa		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							162.0	155.0	158.0					5																	52360866		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360866C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1727C>T	5.37:g.52360866C>T	ENSP00000296585:p.Ser576Leu						p.S576L	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1870	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	576					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1727C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975746	0.74360	.	.	ENSG00000164171	ENST00000296585	T	0.11604	2.76	5.67	5.67	0.87782	.	0.179966	0.49305	D	0.000149	T	0.25568	0.0622	M	0.63843	1.955	0.51767	D	0.999939	P;D	0.54964	0.932;0.969	P;P	0.51945	0.685;0.538	T	0.00152	-1.1984	10	0.87932	D	0	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	576;576	E7ESP4;P17301	.;ITA2_HUMAN	L	576	ENSP00000296585:S576L	ENSP00000296585:S576L	S	+	2	0	ITGA2	52396623	1.000000	0.71417	0.153000	0.22517	0.240000	0.25518	7.252000	0.78309	2.836000	0.97738	0.655000	0.94253	TCA		0.433	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		58	114	0	0	0	1	0	58	114				
FAT1	2195	broad.mit.edu	37	4	187509932	187509932	+	Silent	SNP	G	G	A	rs373825887		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4527					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGCGCCTCGAAGTGTCTTT	0.562										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13579-13581)ttC>ttT		FAT atypical cadherin 1		G		1,4127		0,1,2063	60.0	70.0	66.0		13581	-5.7	0.0	4		66	1,8409		0,1,4204	no	coding-synonymous	FAT1	NM_005245.3		0,2,6267	AA,AG,GG		0.0119,0.0242,0.016		4527/4589	187509932	2,12536	2064	4205	6269	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187509932G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13581C>T	4.37:g.187509932G>A		HNSCC(5;0.00058)					p.F4527F	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			27	13790	-			4527						Silent	SNP	ENST00000441802.2	37	c.13581C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484515	0.01027	2.42E-4	1.19E-4	ENSG00000083857	ENST00000512772	.	.	.	5.37	-5.68	0.02436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1858	0.31337	0.382:0.2099:0.4081:0.0	.	.	.	.	X	307	.	.	R	-	1	2	FAT1	187746926	0.924000	0.31332	0.028000	0.17463	0.010000	0.07245	0.155000	0.16362	-1.778000	0.01282	-2.039000	0.00418	CGA		0.562	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		26	55	0	0	0	1	0	26	55				
ZNF493	284443	broad.mit.edu	37	19	21607043	21607043	+	Nonsense_Mutation	SNP	C	C	T	rs150051672		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:21607043C>T	ENST00000355504.4	+	2	1464	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Nonsense_Mutation_p.R528*	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGCTTTTAAACGATCTTCAAC	0.353																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1582-1584)Cga>Tga		zinc finger protein 493		C	stop/ARG,stop/ARG	1,4403		0,1,2201	37.0	40.0	39.0		1582,1198	-2.1	0.0	19	dbSNP_134	39	0,8596		0,0,4298	yes	stop-gained,stop-gained	ZNF493	NM_001076678.2,NM_175910.6	,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,	528/775,400/647	21607043	1,12999	2202	4298	6500	SO:0001587	stop_gained	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607043C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1198C>T	19.37:g.21607043C>T	ENSP00000347691:p.Arg400*					ZNF493_ENST00000355504.4_Nonsense_Mutation_p.R400*|CTD-2561J22.3_ENST00000600810.1_Intron	p.R528*	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1691	+			400					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	ENST00000355504.4	37	c.1582C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.65	2.598436	0.46318	2.27E-4	0.0	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	1.05	-2.1	0.07210	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	0.8749	0.01222	0.1501:0.2041:0.2947:0.3511	.	.	.	.	X	528;400	.	ENSP00000347691:R400X	R	+	1	2	ZNF493	21398883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.942000	0.00089	-5.048000	0.00023	-5.112000	0.00001	CGA		0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		26	64	0	0	0	1	0	26	64				
GLDC	2731	broad.mit.edu	37	9	6620209	6620209	+	Missense_Mutation	SNP	G	G	A	rs183024300		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:6620209G>A	ENST00000321612.6	-	3	595	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	149					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGTAAGTTCCGCAAAATCGTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20443	0.001		0.0	False		,,,				2504	0.0					ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(445-447)Cgg>Tgg		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						159.0	133.0	142.0					9																	6620209		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6620209G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.445C>T	9.37:g.6620209G>A	ENSP00000370737:p.Arg149Trp						p.R149W	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	3	595	-		Acute lymphoblastic leukemia(23;0.161)	149					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.445C>T	CCDS34987.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.68	3.676043	0.67928	.	.	ENSG00000178445	ENST00000321612	D	0.96830	-4.14	5.79	3.92	0.45320	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99150	1.0858	10	0.87932	D	0	-20.6293	14.595	0.68397	0.0:0.0:0.6189:0.381	.	149	P23378	GCSP_HUMAN	W	149	ENSP00000370737:R149W	ENSP00000370737:R149W	R	-	1	2	GLDC	6610209	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.648000	0.37271	0.764000	0.33197	0.563000	0.77884	CGG		0.438	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		5	126	0	0	0	1	0	5	126				
SETD1A	9739	broad.mit.edu	37	16	30976735	30976735	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:30976735G>A	ENST00000262519.8	+	7	2358	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	558	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGGAGCGGGGAGCCAGGGGC	0.637																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1672-1674)Gag>Aag		SET domain containing 1A							46.0	58.0	54.0					16																	30976735		2173	4255	6428	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976735G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1672G>A	16.37:g.30976735G>A	ENSP00000262519:p.Glu558Lys						p.E558K	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			7	2358	+			558			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1672G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	9.005	0.980957	0.18812	.	.	ENSG00000099381	ENST00000262519	D	0.94138	-3.36	5.53	5.53	0.82687	.	0.764945	0.12377	N	0.474259	D	0.84674	0.5524	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.67480	-0.5660	10	0.10636	T	0.68	.	13.2219	0.59892	0.0:0.0:0.8406:0.1593	.	558	O15047	SET1A_HUMAN	K	558	ENSP00000262519:E558K	ENSP00000262519:E558K	E	+	1	0	SETD1A	30884236	0.998000	0.40836	0.999000	0.59377	0.756000	0.42949	2.385000	0.44371	2.599000	0.87857	0.561000	0.74099	GAG		0.637	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		53	126	0	0	0	1	0	53	126				
SPTB	6710	broad.mit.edu	37	14	65216069	65216069	+	Missense_Mutation	SNP	C	C	A	rs377266593		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:65216069C>A	ENST00000556626.1	-	36	7084	c.6942G>T	c.(6940-6942)aaG>aaT	p.K2314N	SPTB_ENST00000389722.3_Missense_Mutation_p.K2314N|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTGTCTTTCTTGCCGAGGC	0.662																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6940-6942)aaG>aaT		spectrin, beta, erythrocytic							42.0	38.0	39.0					14																	65216069		2200	4300	6500	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65216069C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6942G>T	14.37:g.65216069C>A	ENSP00000451752:p.Lys2314Asn					SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.K2314N	p.K2314N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	35	6995	-		all_lung(585;4.15e-09)	0					Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	c.6942G>T	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567596	0.86439	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626	T;T;T	0.74209	-0.82;-0.24;-0.82	4.85	4.85	0.62838	.	0.166732	0.42294	D	0.000725	T	0.81866	0.4913	L	0.58101	1.795	0.80722	D	1	D;P	0.63046	0.992;0.543	P;B	0.59357	0.856;0.148	D	0.83385	0.0014	10	0.54805	T	0.06	.	16.7394	0.85455	0.0:1.0:0.0:0.0	.	1133;2318	E7EV95;Q59FP5	.;.	N	2318;2314;1133;1014;2314	ENSP00000374372:K2314N;ENSP00000451324:K1014N;ENSP00000451752:K2314N	ENSP00000334218:K1133N	K	-	3	2	SPTB	64285822	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.998000	0.49465	2.240000	0.73641	0.511000	0.50034	AAG		0.662	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			9	25	1	0	0.000442599	1	0.000447061	9	25				
NUMA1	4926	broad.mit.edu	37	11	71725139	71725139	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:71725139T>G	ENST00000393695.3	-	15	3741	c.3410A>C	c.(3409-3411)cAg>cCg	p.Q1137P	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q1137P	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCTGCTTCTGGCATTGCTG	0.662			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3409-3411)cAg>cCg		nuclear mitotic apparatus protein 1							68.0	69.0	69.0					11																	71725139		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725139T>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3410A>C	11.37:g.71725139T>G	ENSP00000377298:p.Gln1137Pro					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q1137P	p.Q1137P	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3741	-			1137						Missense_Mutation	SNP	ENST00000393695.3	37	c.3410A>C	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	1.498	-0.552776	0.03996	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.12569	2.67;2.67	4.55	-2.26	0.06867	.	0.903254	0.09312	N	0.819451	T	0.11196	0.0273	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.29766	0.256;0.118;0.118;0.256	B;B;B;B	0.37239	0.244;0.126;0.126;0.244	T	0.41893	-0.9483	9	.	.	.	.	12.9649	0.58478	0.0:0.2017:0.0:0.7983	.	1143;621;1137;1137	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	P	1137;1137;700;106	ENSP00000351851:Q1137P;ENSP00000377298:Q1137P	.	Q	-	2	0	NUMA1	71402787	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.937000	0.03942	-0.732000	0.04856	-0.242000	0.12053	CAG		0.662	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			29	91	0	0	0	1	0	29	91				
NUAK2	81788	broad.mit.edu	37	1	205275416	205275416	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:205275416G>C	ENST00000367157.3	-	5	716	c.590C>G	c.(589-591)tCc>tGc	p.S197C		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTAGAGGTTGGAGAGACCGAA	0.557																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(589-591)tCc>tGc		NUAK family, SNF1-like kinase, 2							113.0	109.0	110.0					1																	205275416		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205275416G>C	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.590C>G	1.37:g.205275416G>C	ENSP00000356125:p.Ser197Cys						p.S197C	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	716	-	Breast(84;0.186)		197			Protein kinase.			Missense_Mutation	SNP	ENST00000367157.3	37	c.590C>G	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869051	0.91587	.	.	ENSG00000163545	ENST00000367157	T	0.30182	1.54	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000434	T	0.57961	0.2089	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59188	-0.7501	10	0.87932	D	0	.	19.5147	0.95159	0.0:0.0:1.0:0.0	.	197	Q9H093	NUAK2_HUMAN	C	197	ENSP00000356125:S197C	ENSP00000356125:S197C	S	-	2	0	NUAK2	203542039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	TCC		0.557	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		31	93	0	0	0	1	0	31	93				
KIF26B	55083	broad.mit.edu	37	1	245530273	245530273	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:245530273G>T	ENST00000407071.2	+	3	1043	c.603G>T	c.(601-603)atG>atT	p.M201I	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	201					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCATCCAGATGGTGCTGACGT	0.647																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(601-603)atG>atT		kinesin family member 26B							39.0	44.0	42.0					1																	245530273		2182	4263	6445	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530273G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.603G>T	1.37:g.245530273G>T	ENSP00000385545:p.Met201Ile					KIF26B_ENST00000479506.1_3'UTR	p.M201I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1043	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		201					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.603G>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585693	0.66105	.	.	ENSG00000162849	ENST00000407071	T	0.78816	-1.21	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	T	0.77177	0.4092	M	0.64997	1.995	0.80722	D	1	P;P	0.44946	0.558;0.846	B;B	0.39185	0.165;0.293	T	0.80961	-0.1148	10	0.66056	D	0.02	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	201;201	B4DF75;Q2KJY2	.;KI26B_HUMAN	I	201	ENSP00000385545:M201I	ENSP00000385545:M201I	M	+	3	0	KIF26B	243596896	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.586000	0.82596	2.712000	0.92718	0.650000	0.86243	ATG		0.647	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		12	44	1	0	9.05144e-12	1	9.44744e-12	12	44				
FAS	355	broad.mit.edu	37	10	90768721	90768721	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:90768721C>G	ENST00000355279.2	+	4	410	c.410C>G	c.(409-411)tCt>tGt	p.S137C	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.S137C|FAS_ENST00000352159.4_Missense_Mutation_p.S137C|FAS_ENST00000355740.2_Missense_Mutation_p.S137C			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TTTTGTAACTCTACTGTATGT	0.363																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(409-411)tCt>tGt		Fas cell surface death receptor							353.0	380.0	371.0					10																	90768721		2203	4300	6503	SO:0001583	missense	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768721C>G	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.410C>G	10.37:g.90768721C>G	ENSP00000347426:p.Ser137Cys					FAS_ENST00000352159.4_Missense_Mutation_p.S137C|FAS_ENST00000357339.2_Missense_Mutation_p.S137C|FAS_ENST00000355279.2_Missense_Mutation_p.S137C|FAS_ENST00000313771.5_3'UTR	p.S137C	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	630	+		Colorectal(252;0.0161)	137					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355279.2	37	c.410C>G	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122604	0.37436	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	4.21	-5.45	0.02616	TNFR/CD27/30/40/95 cysteine-rich region (3);	.	.	.	.	D	0.92805	0.7712	L	0.59436	1.845	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.74674	0.936;0.984;0.962	D	0.86489	0.1796	9	0.66056	D	0.02	-0.0355	7.1256	0.25469	0.0:0.3917:0.3807:0.2276	.	137;137;137	P25445-6;Q5T9P3;P25445	.;.;TNR6_HUMAN	C	164;137;137;137;137;137	ENSP00000347979:S137C;ENSP00000345601:S137C;ENSP00000349896:S137C;ENSP00000347426:S137C	ENSP00000345601:S137C	S	+	2	0	FAS	90758701	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.581000	0.02119	-1.066000	0.03164	-0.150000	0.13652	TCT		0.363	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			237	563	0	0	0	1	0	237	563				
EXOSC10	5394	broad.mit.edu	37	1	11126794	11126794	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:11126794T>C	ENST00000376936.4	-	25	2688	c.2639A>G	c.(2638-2640)tAc>tGc	p.Y880C	EXOSC10_ENST00000304457.7_Missense_Mutation_p.Y855C|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	880					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGCCAGTTGTACCTGAAGCC	0.443																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2638-2640)tAc>tGc		exosome component 10							93.0	94.0	94.0					1																	11126794		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11126794T>C	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2639A>G	1.37:g.11126794T>C	ENSP00000366135:p.Tyr880Cys					EXOSC10_ENST00000304457.7_Missense_Mutation_p.Y855C|EXOSC10_ENST00000544779.1_3'UTR	p.Y880C	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	25	2688	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	880					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.2639A>G	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535647	0.64972	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.26	4.11	0.48088	.	0.400799	0.28301	N	0.015849	T	0.34366	0.0895	N	0.14661	0.345	0.80722	D	1	P;D	0.52996	0.857;0.957	P;P	0.46275	0.51;0.497	T	0.20371	-1.0277	9	0.87932	D	0	-9.6509	9.4056	0.38460	0.1587:0.0:0.0:0.8413	.	855;880	Q01780-2;Q01780	.;EXOSX_HUMAN	C	880;855	.	ENSP00000307307:Y855C	Y	-	2	0	EXOSC10	11049381	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.272000	0.58908	0.805000	0.34159	0.533000	0.62120	TAC		0.443	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		38	78	0	0	0	1	0	38	78				
SHANK2	22941	broad.mit.edu	37	11	70319250	70319250	+	Silent	SNP	C	C	T	rs200232277		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:70319250C>T	ENST00000423696.2	-	16	4173	c.4137G>A	c.(4135-4137)gcG>gcA	p.A1379A	SHANK2_ENST00000409161.1_Silent_p.A1162A|SHANK2_ENST00000338508.4_Silent_p.A1759A|SHANK2_ENST00000449833.2_Silent_p.A1163A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1379					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TACTGCGTCCCGCTGGGTTCA	0.547																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5275-5277)gcG>gcA		SH3 and multiple ankyrin repeat domains 2		C	,	0,4400		0,0,2200	82.0	90.0	87.0		5128,3510	-0.8	0.2	11		87	1,8587	1.2+/-3.3	0,1,4293	yes	coding-synonymous,coding-synonymous	SHANK2	NM_012309.3,NM_133266.3	,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,	1758/1850,1170/1262	70319250	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319250C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4137G>A	11.37:g.70319250C>T						SHANK2_ENST00000449833.2_Silent_p.A1163A|SHANK2_ENST00000423696.2_Silent_p.A1379A|SHANK2_ENST00000409161.1_Silent_p.A1162A	p.A1759A			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5276	-			1379					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.5277G>A																																																																																					0.547	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		41	84	0	0	0	1	0	41	84				
BTN3A2	11118	broad.mit.edu	37	6	26373256	26373256	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26373256G>C	ENST00000356386.2	+	6	1035	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	BTN3A2_ENST00000377708.2_Missense_Mutation_p.E283Q|BTN3A2_ENST00000396948.1_Missense_Mutation_p.E283Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.E283Q|BTN3A2_ENST00000508906.2_Missense_Mutation_p.E241Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.E260Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	283					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCTGTCCAGTGAGATAGAAAG	0.498																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(847-849)Gag>Cag		butyrophilin, subfamily 3, member A2							101.0	99.0	100.0					6																	26373256		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26373256G>C	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.847G>C	6.37:g.26373256G>C	ENSP00000348751:p.Glu283Gln					BTN3A2_ENST00000396948.1_Missense_Mutation_p.E283Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.E260Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.E283Q|BTN3A2_ENST00000508906.2_Missense_Mutation_p.E241Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.E283Q	p.E283Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			6	1035	+			283					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.847G>C	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	11.87	1.767680	0.31320	.	.	ENSG00000186470	ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T	0.04015	3.87;3.87;3.73;3.87;3.87;4.3	1.67	1.67	0.24075	.	.	.	.	.	T	0.02230	0.0069	L	0.47716	1.5	0.09310	N	1	P;P	0.45902	0.868;0.792	B;B	0.44044	0.439;0.255	T	0.46233	-0.9206	9	0.44086	T	0.13	.	7.2199	0.25981	0.0:0.0:1.0:0.0	.	260;283	F8W6E0;P78410	.;BT3A2_HUMAN	Q	283;283;283;260;283;283;241	ENSP00000432138:E283Q;ENSP00000348751:E283Q;ENSP00000380140:E260Q;ENSP00000366937:E283Q;ENSP00000380152:E283Q;ENSP00000442687:E241Q	ENSP00000348751:E283Q	E	+	1	0	BTN3A2	26481235	0.117000	0.22190	0.008000	0.14137	0.012000	0.07955	2.425000	0.44723	0.850000	0.35239	0.411000	0.27672	GAG		0.498	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			31	88	0	0	0	1	0	31	88				
GZMB	3002	broad.mit.edu	37	14	25102257	25102257	+	Missense_Mutation	SNP	C	C	T	rs368712815		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:25102257C>T	ENST00000216341.4	-	2	173	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.G23R|GZMB_ENST00000382540.1_Missense_Mutation_p.G23R|GZMB_ENST00000415355.3_Missense_Mutation_p.G11R|GZMB_ENST00000382542.1_Missense_Mutation_p.G57R			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	23	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATGTCCCCCGATGATCTCC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		17118	0.0		0.0	False		,,,				2504	0.001					ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(67-69)Ggg>Agg		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	112.0	113.0	112.0		67	5.0	1.0	14		112	0,8600		0,0,4300	no	missense	GZMB	NM_004131.4	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	23/248	25102257	1,13005	2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102257C>T	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.67G>A	14.37:g.25102257C>T	ENSP00000216341:p.Gly23Arg					RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.G23R|GZMB_ENST00000415355.3_Missense_Mutation_p.G11R|GZMB_ENST00000526004.1_Missense_Mutation_p.G23R|GZMB_ENST00000382542.1_Missense_Mutation_p.G57R|RP11-104E19.1_ENST00000555300.1_RNA	p.G23R			P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	2	173	-			23			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.67G>A	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	c	11.32	1.604470	0.28623	2.27E-4	0.0	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000526004	T;D;D;T;D	0.95554	-0.32;-3.74;-3.74;0.94;-2.09	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34986	N	0.003532	D	0.97876	0.9302	M	0.90082	3.085	0.38179	D	0.939565	D;D	0.89917	0.999;1.0	D;D	0.72075	0.976;0.944	D	0.99761	1.1021	10	0.87932	D	0	.	14.0772	0.64897	0.0:1.0:0.0:0.0	.	11;23	Q6XGZ4;P10144	.;GRAB_HUMAN	R	11;23;57;23;23	ENSP00000387385:G11R;ENSP00000216341:G23R;ENSP00000371982:G57R;ENSP00000371980:G23R;ENSP00000434213:G23R	ENSP00000216341:G23R	G	-	1	0	GZMB	24172097	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	3.123000	0.50453	2.785000	0.95823	0.655000	0.94253	GGG		0.562	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		46	131	0	0	0	1	0	46	131				
GOLGA4	2803	broad.mit.edu	37	3	37292899	37292899	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:37292899C>G	ENST00000361924.2	+	2	460	c.86C>G	c.(85-87)tCt>tGt	p.S29C	GOLGA4_ENST00000444882.1_Missense_Mutation_p.S29C|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S29C|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	29					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCTCCAATTCTTCAACACCA	0.393																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(85-87)tCt>tGt		golgin A4							97.0	90.0	93.0					3																	37292899		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37292899C>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.86C>G	3.37:g.37292899C>G	ENSP00000354486:p.Ser29Cys					GOLGA4_ENST00000444882.1_Missense_Mutation_p.S29C|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S29C	p.S29C	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			2	460	+			29					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.86C>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674060	0.47781	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863;ENST00000429018;ENST00000431105	T;T	0.29655	1.62;1.56	4.1	4.1	0.47936	.	0.000000	0.32836	N	0.005591	T	0.43144	0.1234	L	0.36672	1.1	0.33105	D	0.539707	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.993;0.996;0.99;0.993	T	0.53662	-0.8407	10	0.52906	T	0.07	.	12.0221	0.53350	0.0:1.0:0.0:0.0	.	29;29;29;29	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	C	29	ENSP00000354486:S29C;ENSP00000349305:S29C	ENSP00000349305:S29C	S	+	2	0	GOLGA4	37267903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.254000	0.43214	2.268000	0.75426	0.462000	0.41574	TCT		0.393	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		46	32	0	0	0	1	0	46	32				
PPP4C	5531	broad.mit.edu	37	16	30094768	30094768	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:30094768G>C	ENST00000279387.7	+	6	525	c.357G>C	c.(355-357)caG>caC	p.Q119H	PPP4C_ENST00000561610.1_Missense_Mutation_p.Q119H	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	119					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AGAGTCGCCAGATCACGCAGG	0.592																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(355-357)caG>caC		protein phosphatase 4, catalytic subunit							101.0	91.0	94.0					16																	30094768		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30094768G>C		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.357G>C	16.37:g.30094768G>C	ENSP00000279387:p.Gln119His					PPP4C_ENST00000561610.1_Missense_Mutation_p.Q119H	p.Q119H	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			6	525	+			119					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.357G>C	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154646	0.78114	.	.	ENSG00000149923	ENST00000279387	T	0.50001	0.76	5.83	4.88	0.63580	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.054204	0.85682	D	0.000000	T	0.64972	0.2647	M	0.83692	2.655	0.80722	D	1	P	0.52463	0.953	P	0.58266	0.836	T	0.69781	-0.5052	10	0.87932	D	0	-9.1133	10.0743	0.42351	0.1547:0.0:0.8453:0.0	.	119	P60510	PP4C_HUMAN	H	119	ENSP00000279387:Q119H	ENSP00000279387:Q119H	Q	+	3	2	PPP4C	30002269	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.774000	0.47694	1.480000	0.48289	0.650000	0.86243	CAG		0.592	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		26	78	0	0	0	1	0	26	78				
THAP9	79725	broad.mit.edu	37	4	83827742	83827742	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:83827742C>T	ENST00000302236.5	+	3	593	c.542C>T	c.(541-543)tCt>tTt	p.S181F		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	181					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAACTACTTTCTGAAGAAACA	0.363																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(541-543)tCt>tTt		THAP domain containing 9							59.0	60.0	60.0					4																	83827742		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83827742C>T	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.542C>T	4.37:g.83827742C>T	ENSP00000305533:p.Ser181Phe						p.S181F	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			3	593	+		Hepatocellular(203;0.114)	181					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.542C>T	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273183	0.40194	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.38887	1.11	3.87	3.87	0.44632	.	0.475123	0.18085	N	0.152197	T	0.37517	0.1006	L	0.34521	1.04	0.30420	N	0.778235	P	0.45348	0.856	P	0.46144	0.505	T	0.32402	-0.9908	10	0.46703	T	0.11	-16.4253	11.6369	0.51209	0.0:1.0:0.0:0.0	.	181	Q9H5L6	THAP9_HUMAN	F	181	ENSP00000305533:S181F	ENSP00000305533:S181F	S	+	2	0	THAP9	84046766	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.819000	0.39022	2.459000	0.83118	0.591000	0.81541	TCT		0.363	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		35	78	0	0	0	1	0	35	78				
CD58	965	broad.mit.edu	37	1	117078587	117078587	+	Splice_Site	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:117078587C>A	ENST00000369489.5	-	3	694	c.628G>T	c.(628-630)Ggt>Tgt	p.G210C	CD58_ENST00000369487.3_Splice_Site_p.G210C|CD58_ENST00000457047.2_Splice_Site_p.G210C	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	210					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTACTCACCGCTGCTTGGG	0.343																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.e3+1		CD58 molecule							114.0	114.0	114.0					1																	117078587		2203	4300	6503	SO:0001630	splice_region_variant	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078587C>A	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.628+1G>T	1.37:g.117078587C>A						CD58_ENST00000369487.3_Splice_Site_p.G210_splice|CD58_ENST00000369489.5_Splice_Site_p.G210_splice	p.G210_splice	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	681	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	210					A8K7G5|Q5U053|Q6IB65|Q96KI9	Splice_Site	SNP	ENST00000369489.5	37	c.628_splice	CCDS888.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018239	0.35606	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.54279	0.64;0.65;0.58	3.01	2.09	0.27110	.	7.803210	0.00357	U	0.000039	T	0.38480	0.1042	N	0.19112	0.55	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66084	0.941;0.941;0.941	T	0.39702	-0.9601	9	.	.	.	.	6.1121	0.20106	0.0:0.8579:0.0:0.1421	.	210;210;210	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	C	210	ENSP00000358501:G210C;ENSP00000409080:G210C;ENSP00000358499:G210C	.	G	-	1	0	CD58	116880110	0.000000	0.05858	0.043000	0.18650	0.113000	0.19764	-0.447000	0.06828	0.834000	0.34852	0.655000	0.94253	GGT		0.343	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779	Missense_Mutation	33	100	1	0	2.51541e-25	1	2.66996e-25	33	100				
CHD8	57680	broad.mit.edu	37	14	21870633	21870633	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:21870633C>G	ENST00000557364.1	-	19	4007	c.3744G>C	c.(3742-3744)caG>caC	p.Q1248H	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.Q969H|CHD8_ENST00000399982.2_Missense_Mutation_p.Q1248H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1248	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCTTTGCTCTGCCCAATTC	0.438																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3742-3744)caG>caC		chromodomain helicase DNA binding protein 8							76.0	73.0	74.0					14																	21870633		2203	4300	6503	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870633C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3744G>C	14.37:g.21870633C>G	ENSP00000451601:p.Gln1248His					CHD8_ENST00000430710.3_Missense_Mutation_p.Q969H|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.Q1248H	p.Q1248H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	3808	-	all_cancers(95;0.00121)		1248			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3744G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.34|16.34	3.095930|3.095930	0.56075|0.56075	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.83075	.|-1.68;-1.68;-1.68	5.65|5.65	1.65|1.65	0.23941|0.23941	.|Helicase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94640|0.94640	0.8272|0.8272	H|H	0.99929|0.99929	4.97|4.97	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.92606|0.92606	0.6095|0.6095	5|10	.|0.87932	.|D	.|0	-8.5353|-8.5353	8.5282|8.5282	0.33317|0.33317	0.0:0.6018:0.0:0.3982|0.0:0.6018:0.0:0.3982	.|.	.|1248;969	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	Q|H	474|969;1248;968;1248	.|ENSP00000406288:Q969H;ENSP00000382863:Q1248H;ENSP00000451601:Q1248H	.|ENSP00000262707:Q968H	E|Q	-|-	1|3	0|2	CHD8|CHD8	20940473|20940473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.598000|1.598000	0.36740|0.36740	0.503000|0.503000	0.28060|0.28060	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		17	51	0	0	0	1	0	17	51				
USP28	57646	broad.mit.edu	37	11	113701592	113701592	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:113701592C>T	ENST00000003302.4	-	9	975	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	USP28_ENST00000544967.1_5'Flank|USP28_ENST00000545540.1_Missense_Mutation_p.E178K|USP28_ENST00000542033.1_5'Flank|USP28_ENST00000537706.1_Missense_Mutation_p.E303K|USP28_ENST00000260188.5_Missense_Mutation_p.E303K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	303	USP.			VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTTACCTTCACGAACCCCT	0.403																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(907-909)Gaa>Aaa		ubiquitin specific peptidase 28							152.0	144.0	146.0					11																	113701592		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113701592C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.907G>A	11.37:g.113701592C>T	ENSP00000003302:p.Glu303Lys					USP28_ENST00000545540.1_Missense_Mutation_p.E178K|USP28_ENST00000260188.5_Missense_Mutation_p.E303K|USP28_ENST00000537706.1_Missense_Mutation_p.E303K	p.E303K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	9	975	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	303	VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039).				B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.907G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970370	0.74246	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.73258	1.39;1.4;1.42;0.93;-0.73;3.49	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.207174	0.49916	D	0.000135	T	0.66992	0.2846	L	0.48174	1.505	0.58432	D	0.999995	B;P;B	0.44344	0.148;0.833;0.432	B;P;B	0.49085	0.124;0.6;0.344	T	0.63175	-0.6696	10	0.02654	T	1	.	13.9498	0.64109	0.0:0.9246:0.0:0.0754	.	178;303;303	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	K	303;303;178;67;303;202	ENSP00000003302:E303K;ENSP00000260188:E303K;ENSP00000444991:E178K;ENSP00000442257:E67K;ENSP00000445743:E303K;ENSP00000440799:E202K	ENSP00000003302:E303K	E	-	1	0	USP28	113206802	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.187000	0.65087	2.702000	0.92279	0.462000	0.41574	GAA		0.403	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			47	102	0	0	0	1	0	47	102				
HUWE1	10075	broad.mit.edu	37	X	53612084	53612084	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:53612084T>C	ENST00000342160.3	-	39	5346	c.4889A>G	c.(4888-4890)tAc>tGc	p.Y1630C	HUWE1_ENST00000262854.6_Missense_Mutation_p.Y1630C|HUWE1_ENST00000218328.8_Missense_Mutation_p.Y1630C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1630	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTTGCACTGTAACTACACCA	0.443																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4888-4890)tAc>tGc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							202.0	158.0	173.0					X																	53612084		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53612084T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4889A>G	X.37:g.53612084T>C	ENSP00000340648:p.Tyr1630Cys					HUWE1_ENST00000262854.6_Missense_Mutation_p.Y1630C|HUWE1_ENST00000218328.8_Missense_Mutation_p.Y1630C	p.Y1630C			Q7Z6Z7	HUWE1_HUMAN			39	5346	-			1630			WWE.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4889A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430044	0.83776	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.67865	-0.29;-0.29;0.16	5.61	5.61	0.85477	WWE domain (2);	0.231261	0.37261	N	0.002175	D	0.83041	0.5168	M	0.84773	2.715	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.85958	0.1468	10	0.87932	D	0	.	13.7357	0.62815	0.0:0.0:0.0:1.0	.	1630;1630	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	C	1630	ENSP00000340648:Y1630C;ENSP00000262854:Y1630C;ENSP00000218328:Y1630C	ENSP00000218328:Y1630C	Y	-	2	0	HUWE1	53628809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.653000	0.83643	1.887000	0.54652	0.486000	0.48141	TAC		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		64	37	0	0	0	1	0	64	37				
TUBB8P7	197331	broad.mit.edu	37	16	90162063	90162063	+	RNA	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:90162063C>T	ENST00000564451.1	+	0	1416				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGCATTTCTTCATGCCCGGCT	0.607																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162063C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162063C>T						TUBB8P7_ENST00000564451.1_RNA								0	799	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		18	33	0	0	0	1	0	18	33				
NT5DC1	221294	broad.mit.edu	37	6	116565108	116565108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:116565108C>G	ENST00000319550.4	+	12	1371	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	RP3-486I3.5_ENST00000457319.1_RNA	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	430							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGATTCTCTTCAAGCAATTCA	0.343																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(1288-1290)tCa>tGa		5'-nucleotidase domain containing 1							50.0	51.0	51.0					6																	116565108		2202	4295	6497	SO:0001587	stop_gained	221294						hydrolase activity|metal ion binding	g.chr6:116565108C>G	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.1289C>G	6.37:g.116565108C>G	ENSP00000326858:p.Ser430*						p.S430*	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	12	1371	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	430					B2RND9|B3KR35|Q6XYD5	Nonsense_Mutation	SNP	ENST00000319550.4	37	c.1289C>G	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454026	0.96223	.	.	ENSG00000178425	ENST00000319550	.	.	.	4.34	3.45	0.39498	.	0.532611	0.20965	N	0.082500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.4848	11.5065	0.50471	0.1807:0.8192:0.0:0.0	.	.	.	.	X	430	.	ENSP00000326858:S430X	S	+	2	0	NT5DC1	116671801	0.998000	0.40836	0.784000	0.31847	0.998000	0.95712	3.170000	0.50816	1.155000	0.42497	0.650000	0.86243	TCA		0.343	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		23	47	0	0	0	1	0	23	47				
ARHGAP25	9938	broad.mit.edu	37	2	69043430	69043430	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:69043430G>C	ENST00000295381.3	+	7	1233	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ARHGAP25_ENST00000479844.1_5'Flank|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E273Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E233Q|ARHGAP25_ENST00000544262.1_3'UTR|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E265Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	272	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGCTCAGCAGGAGTTGATGAA	0.488																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(814-816)Gag>Cag		Rho GTPase activating protein 25							104.0	96.0	99.0					2																	69043430		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69043430G>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.814G>C	2.37:g.69043430G>C	ENSP00000295381:p.Glu272Gln					ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E233Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E265Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000544262.1_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E273Q	p.E272Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			7	1233	+			272			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.814G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.857510|4.857510	0.91433|0.91433	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533|ENST00000497259	T;T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16;2.16|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.146833|.	0.64402|.	D|.	0.000010|.	T|T	0.70954|0.70954	0.3283|0.3283	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;P;P;D;P;P|.	0.56287|.	0.975;0.804;0.804;0.968;0.763;0.921|.	P;P;P;P;B;P|.	0.59115|.	0.776;0.467;0.467;0.667;0.229;0.852|.	T|T	0.65751|0.65751	-0.6092|-0.6092	10|5	0.34782|.	T|.	0.22|.	.|.	19.158|19.158	0.93518|0.93518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	233;273;266;265;266;272|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	Q|S	272;273;233;265;266;266;266;257|131	ENSP00000295381:E272Q;ENSP00000386911:E273Q;ENSP00000420583:E233Q;ENSP00000386863:E265Q;ENSP00000386241:E266Q;ENSP00000417139:E266Q|.	ENSP00000295381:E272Q|.	E|R	+|+	1|3	0|2	ARHGAP25|ARHGAP25	68896934|68896934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.617000|3.617000	0.54181|0.54181	2.777000|2.777000	0.95525|0.95525	0.585000|0.585000	0.79938|0.79938	GAG|AGG		0.488	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		34	74	0	0	0	1	0	34	74				
MYOF	26509	broad.mit.edu	37	10	95169456	95169456	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:95169456G>A	ENST00000359263.4	-	6	473	c.474C>T	c.(472-474)gaC>gaT	p.D158D	MYOF_ENST00000358334.5_Silent_p.D158D|MYOF_ENST00000371489.1_Silent_p.D158D|MYOF_ENST00000371502.4_Silent_p.D158D|MYOF_ENST00000371501.4_Silent_p.D158D	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	158					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACTGCATTGTCCAACCTGT	0.537																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(472-474)gaC>gaT		myoferlin							243.0	240.0	241.0					10																	95169456		1934	4120	6054	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95169456G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.474C>T	10.37:g.95169456G>A						MYOF_ENST00000371489.1_Silent_p.D158D|MYOF_ENST00000358334.5_Silent_p.D158D|MYOF_ENST00000359263.4_Silent_p.D158D|MYOF_ENST00000371502.4_Silent_p.D158D	p.D158D			Q9NZM1	MYOF_HUMAN			6	596	-			158					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.474C>T	CCDS41551.1																																																																																				0.537	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		15	418	0	0	0	1	0	15	418				
EXOSC3	51010	broad.mit.edu	37	9	37784017	37784017	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:37784017G>A	ENST00000327304.5	-	2	380	c.368C>T	c.(367-369)gCt>gTt	p.A123V	EXOSC3_ENST00000396521.3_Missense_Mutation_p.A123V|RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000490516.1_5'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	123					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCCAGATTTAGCTGTCACTAT	0.368																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(367-369)gCt>gTt		exosome component 3							110.0	103.0	106.0					9																	37784017		2203	4300	6503	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37784017G>A	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.368C>T	9.37:g.37784017G>A	ENSP00000323046:p.Ala123Val					EXOSC3_ENST00000396521.3_Missense_Mutation_p.A123V|EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR	p.A123V	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	2	380	-			123					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.368C>T	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420678	0.62622	.	.	ENSG00000107371	ENST00000327304;ENST00000396521	D;D	0.82984	-1.67;-1.67	5.34	5.34	0.76211	.	0.198302	0.52532	D	0.000067	T	0.81460	0.4827	M	0.76574	2.34	0.52501	D	0.999953	P;P	0.38597	0.627;0.639	B;B	0.32211	0.142;0.11	T	0.82135	-0.0607	10	0.38643	T	0.18	-21.197	16.8936	0.86094	0.0:0.0:1.0:0.0	.	123;123	A8K0K6;Q9NQT5	.;EXOS3_HUMAN	V	123	ENSP00000323046:A123V;ENSP00000379775:A123V	ENSP00000323046:A123V	A	-	2	0	EXOSC3	37774017	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	3.348000	0.52209	2.637000	0.89404	0.563000	0.77884	GCT		0.368	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		33	89	0	0	0	1	0	33	89				
MB	4151	broad.mit.edu	37	22	36007002	36007002	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:36007002G>A	ENST00000397326.2	-	2	445	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	MB_ENST00000406324.1_Missense_Mutation_p.H83Y|MB_ENST00000359787.1_Missense_Mutation_p.H83Y|MB_ENST00000401702.1_Missense_Mutation_p.H28Y|MB_ENST00000397328.1_Missense_Mutation_p.H83Y	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	83					brown fat cell differentiation (GO:0050873)|enucleate erythrocyte differentiation (GO:0043353)|heart development (GO:0007507)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			lung(1)	1						TCTGCCTCATGATGCCCCTTC	0.582																																					GBM(49;694 1113 16998 18419)|Esophageal Squamous(101;120 1973 10459 37086)	ENST00000397326.2																			0				lung(1)	1						c.(247-249)Cat>Tat		myoglobin							116.0	86.0	96.0					22																	36007002		2203	4300	6503	SO:0001583	missense	4151						heme binding|oxygen transporter activity	g.chr22:36007002G>A		CCDS13917.1	22q13.1	2012-10-02			ENSG00000198125	ENSG00000198125			6915	protein-coding gene	gene with protein product		160000				10591208, 2989088	Standard	NM_005368		Approved	PVALB	uc003anz.3	P02144	OTTHUMG00000150606	ENST00000397326.2:c.247C>T	22.37:g.36007002G>A	ENSP00000380489:p.His83Tyr					MB_ENST00000401702.1_Missense_Mutation_p.H28Y|MB_ENST00000397328.1_Missense_Mutation_p.H83Y|MB_ENST00000359787.1_Missense_Mutation_p.H83Y|MB_ENST00000406324.1_Missense_Mutation_p.H83Y	p.H83Y	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN			2	445	-			83					Q52H51|Q5THY7	Missense_Mutation	SNP	ENST00000397326.2	37	c.247C>T	CCDS13917.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759723	0.49468	.	.	ENSG00000198125	ENST00000401702;ENST00000397326;ENST00000359787;ENST00000397328;ENST00000453997;ENST00000406324;ENST00000443033;ENST00000442617;ENST00000451685;ENST00000447607	D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.31	5.31	0.75309	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.96728	0.8932	M	0.90977	3.165	0.50632	D	0.999888	D	0.60160	0.987	D	0.66084	0.941	D	0.97395	0.9992	10	0.87932	D	0	-0.1745	17.535	0.87827	0.0:0.0:1.0:0.0	.	83	P02144	MYG_HUMAN	Y	28;83;83;83;65;83;83;28;83;83	ENSP00000386060:H28Y;ENSP00000380489:H83Y;ENSP00000352835:H83Y;ENSP00000380491:H83Y;ENSP00000384239:H83Y;ENSP00000403351:H83Y;ENSP00000413309:H28Y;ENSP00000397944:H83Y;ENSP00000389263:H83Y	ENSP00000352835:H83Y	H	-	1	0	MB	34336948	1.000000	0.71417	0.344000	0.25628	0.068000	0.16541	6.118000	0.71583	2.663000	0.90544	0.561000	0.74099	CAT		0.582	MB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319057.2	NM_203377		36	47	0	0	0	1	0	36	47				
GPRASP2	114928	broad.mit.edu	37	X	101970216	101970216	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:101970216C>T	ENST00000535209.1	+	4	1250	c.419C>T	c.(418-420)tCa>tTa	p.S140L	GPRASP2_ENST00000543253.1_Missense_Mutation_p.S140L|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S140L			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	140						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGCAGTGTCACAGGCAGAA	0.542																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(418-420)tCa>tTa		G protein-coupled receptor associated sorting protein 2							106.0	103.0	104.0					X																	101970216		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970216C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.419C>T	X.37:g.101970216C>T	ENSP00000437394:p.Ser140Leu					GPRASP2_ENST00000332262.5_Missense_Mutation_p.S140L|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S140L	p.S140L	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1338	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.419C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	5.001	0.185836	0.09495	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08102	3.13;3.13;3.13	4.63	0.849	0.18972	.	0.859447	0.09733	N	0.762940	T	0.04770	0.0129	N	0.11201	0.11	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41233	-0.9520	10	0.49607	T	0.09	.	7.5171	0.27606	0.0:0.5873:0.0:0.4127	.	140	Q96D09	GASP2_HUMAN	L	140	ENSP00000437872:S140L;ENSP00000437394:S140L;ENSP00000339057:S140L	ENSP00000339057:S140L	S	+	2	0	GPRASP2	101856872	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	0.349000	0.20055	0.122000	0.18314	0.513000	0.50165	TCA		0.542	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		86	55	0	0	0	1	0	86	55				
TBX19	9095	broad.mit.edu	37	1	168262431	168262431	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:168262431G>A	ENST00000367821.3	+	3	569	c.518G>A	c.(517-519)cGt>cAt	p.R173H		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	173					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CACATAGTGCGTGTTGGAAGT	0.473																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(517-519)cGt>cAt		T-box 19							126.0	110.0	115.0					1																	168262431		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168262431G>A	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.518G>A	1.37:g.168262431G>A	ENSP00000356795:p.Arg173His						p.R173H	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			3	569	+	all_hematologic(923;0.215)		173					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.518G>A	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906106	0.72868	.	.	ENSG00000143178	ENST00000367821;ENST00000367828	T	0.81163	-1.46	5.02	5.02	0.67125	p53-like transcription factor, DNA-binding (1);	0.067713	0.64402	D	0.000011	D	0.89667	0.6781	M	0.87617	2.895	0.49798	D	0.999829	D;D	0.89917	0.967;1.0	P;D	0.74674	0.474;0.984	D	0.91110	0.4921	9	0.62326	D	0.03	.	17.9571	0.89073	0.0:0.0:1.0:0.0	.	173;104	O60806;B3KRD9	TBX19_HUMAN;.	H	173;113	ENSP00000356795:R173H	ENSP00000356795:R173H	R	+	2	0	TBX19	166529055	0.994000	0.37717	0.978000	0.43139	0.872000	0.50106	4.346000	0.59367	2.323000	0.78572	0.563000	0.77884	CGT		0.473	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		27	66	0	0	0	1	0	27	66				
NISCH	11188	broad.mit.edu	37	3	52514222	52514222	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:52514222C>T	ENST00000479054.1	+	14	1511	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	NISCH_ENST00000420808.2_Missense_Mutation_p.S480L|NISCH_ENST00000488380.1_Missense_Mutation_p.S480L|NISCH_ENST00000345716.4_Missense_Mutation_p.S480L			Q9Y2I1	NISCH_HUMAN	nischarin	480	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCCCGGCTCTCAGCTGCCCCC	0.632																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1438-1440)tCa>tTa		nischarin							82.0	79.0	80.0					3																	52514222		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52514222C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1439C>T	3.37:g.52514222C>T	ENSP00000418232:p.Ser480Leu					NISCH_ENST00000479054.1_Missense_Mutation_p.S480L|NISCH_ENST00000488380.1_Missense_Mutation_p.S480L|NISCH_ENST00000420808.2_Missense_Mutation_p.S480L	p.S480L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	13	1573	+			480			Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1439C>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832937	0.32421	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.08370	3.1;3.1;3.22;3.18	3.99	3.12	0.35913	.	0.311573	0.29631	N	0.011606	T	0.04363	0.0120	N	0.19112	0.55	0.32273	N	0.56864	B;P	0.38922	0.181;0.651	B;B	0.24155	0.051;0.039	T	0.20240	-1.0281	10	0.54805	T	0.06	-2.3861	9.971	0.41754	0.0:0.8984:0.0:0.1016	.	480;480	Q9Y2I1;C9J715	NISCH_HUMAN;.	L	480	ENSP00000418232:S480L;ENSP00000339958:S480L;ENSP00000417812:S480L;ENSP00000392484:S480L	ENSP00000339958:S480L	S	+	2	0	NISCH	52489262	0.930000	0.31532	0.791000	0.31998	0.041000	0.13682	3.027000	0.49697	1.289000	0.44618	0.655000	0.94253	TCA		0.632	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		20	66	0	0	0	1	0	20	66				
NUDT10	170685	broad.mit.edu	37	X	51075949	51075949	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:51075949C>G	ENST00000376006.3	+	2	352	c.132C>G	c.(130-132)cgC>cgG	p.R44R	NUDT10_ENST00000356450.2_Silent_p.R44R	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					ACCCGGACCGCTGGATCGTGC	0.697																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(130-132)cgC>cgG		nudix (nucleoside diphosphate linked moiety X)-type motif 10							15.0	19.0	18.0					X																	51075949		2199	4289	6488	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51075949C>G	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.132C>G	X.37:g.51075949C>G						NUDT10_ENST00000356450.2_Silent_p.R44R	p.R44R	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	352	+	Ovarian(276;0.236)		44			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.132C>G	CCDS35278.1																																																																																				0.697	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		14	9	0	0	0	1	0	14	9				
ARFGEF1	10565	broad.mit.edu	37	8	68178422	68178422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:68178422G>A	ENST00000262215.3	-	14	2331	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.Q102*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	648					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTCATCTCTTGCTCTGAGGGT	0.353																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1942-1944)Caa>Taa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							99.0	92.0	95.0					8																	68178422		2202	4299	6501	SO:0001587	stop_gained	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68178422G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1942C>T	8.37:g.68178422G>A	ENSP00000262215:p.Gln648*					ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.Q102*	p.Q648*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	2331	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	648					Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	c.1942C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	44	10.892597	0.99484	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	.	.	.	5.83	5.83	0.93111	.	0.055122	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	.	.	.	X	102;648	.	ENSP00000262215:Q648X	Q	-	1	0	ARFGEF1	68340976	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.771000	0.98977	2.753000	0.94483	0.585000	0.79938	CAA		0.353	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		23	69	0	0	0	1	0	23	69				
ADAM33	80332	broad.mit.edu	37	20	3657786	3657786	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:3657786G>C	ENST00000356518.2	-	3	423	c.182C>G	c.(181-183)tCg>tGg	p.S61W	ADAM33_ENST00000350009.2_Missense_Mutation_p.S61W|ADAM33_ENST00000379861.4_Missense_Mutation_p.S61W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	61					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GTCTGGCTTCGAGACCTGGGC	0.642																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(181-183)tCg>tGg		ADAM metallopeptidase domain 33							46.0	43.0	44.0					20																	3657786		2203	4299	6502	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3657786G>C	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.182C>G	20.37:g.3657786G>C	ENSP00000348912:p.Ser61Trp					ADAM33_ENST00000350009.2_Missense_Mutation_p.S61W|ADAM33_ENST00000379861.4_Missense_Mutation_p.S61W	p.S61W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			3	423	-			61					A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.182C>G	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	6.150	0.395931	0.11638	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000428784;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000535013;ENST00000322570;ENST00000339622	T;T;T	0.07021	3.23;3.23;3.23	4.36	-8.71	0.00848	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.05731	0.0150	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B;B;B	0.28350	0.208;0.027;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.27170	0.077;0.019;0.002;0.001;0.002;0.005;0.008;0.008	T	0.32798	-0.9893	9	0.66056	D	0.02	.	11.9305	0.52843	0.1203:0.2203:0.6594:0.0	.	61;61;61;61;61;61;61;61	B4DTZ3;B4E1Y6;E9PEB2;F5H888;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;.;.;ADA33_HUMAN;.	W	61	ENSP00000348912:S61W;ENSP00000369190:S61W;ENSP00000322550:S61W	ENSP00000318839:S61W	S	-	2	0	ADAM33	3605786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.889000	0.00710	-2.821000	0.00343	-2.827000	0.00107	TCG		0.642	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		7	32	0	0	0	1	0	7	32				
PCNT	5116	broad.mit.edu	37	21	47769698	47769698	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:47769698C>G	ENST00000359568.5	+	8	1415	c.1308C>G	c.(1306-1308)ttC>ttG	p.F436L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	436	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTTGGAGTTCAAGTTCAAAG	0.453																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1306-1308)ttC>ttG		pericentrin							85.0	87.0	86.0					21																	47769698		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769698C>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1308C>G	21.37:g.47769698C>G	ENSP00000352572:p.Phe436Leu					PCNT_ENST00000480896.1_3'UTR	p.F436L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			8	1415	+	Breast(49;0.112)		436			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1308C>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	c	0.483	-0.878781	0.02550	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.19250	2.16	3.98	-2.7	0.06004	.	1.892650	0.03901	N	0.280282	T	0.04907	0.0132	N	0.00554	-1.385	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19778	-1.0295	10	0.25751	T	0.34	.	1.0645	0.01608	0.1948:0.1273:0.2954:0.3825	.	318;436	O95613-2;O95613	.;PCNT_HUMAN	L	436;423	ENSP00000352572:F436L	ENSP00000338675:F423L	F	+	3	2	PCNT	46594126	0.026000	0.19158	0.000000	0.03702	0.121000	0.20230	0.737000	0.26144	-0.427000	0.07350	-1.763000	0.00667	TTC		0.453	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		32	85	0	0	0	1	0	32	85				
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3544-3546)Cgg>Tgg		immunoglobulin superfamily, member 9B							27.0	33.0	31.0					11																	133790076		1865	4082	5947	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790076G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3544C>T	11.37:g.133790076G>A	ENSP00000317980:p.Arg1182Trp					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W	p.R1182W			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3774	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1182			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3544C>T		.	.	.	.	.	.	.	.	.	.	G	18.54	3.645767	0.67358	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76839	-0.76;-1.05	5.08	5.08	0.68730	.	0.000000	0.40728	N	0.001026	T	0.80417	0.4619	L	0.27053	0.805	0.45205	D	0.998212	D	0.89917	1.0	D	0.75020	0.985	T	0.82657	-0.0349	10	0.87932	D	0	.	13.0892	0.59158	0.0:0.0:0.8392:0.1608	.	1182	Q9UPX0	TUTLB_HUMAN	W	1182;1024	ENSP00000317980:R1182W;ENSP00000436552:R1024W	ENSP00000317980:R1182W	R	-	1	2	IGSF9B	133295286	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.687000	0.68219	2.358000	0.79984	0.455000	0.32223	CGG		0.716	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		32	79	0	0	0	1	0	32	79				
ABCA8	10351	broad.mit.edu	37	17	66878814	66878814	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:66878814C>G	ENST00000269080.2	-	28	3771	c.3634G>C	c.(3634-3636)Gaa>Caa	p.E1212Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1252Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1252Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1212					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCTCTCCTTCTGGTTCTTCT	0.343																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3634-3636)Gaa>Caa		ATP-binding cassette, sub-family A (ABC1), member 8							186.0	165.0	173.0					17																	66878814		2203	4299	6502	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66878814C>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3634G>C	17.37:g.66878814C>G	ENSP00000269080:p.Glu1212Gln					ABCA8_ENST00000430352.2_Missense_Mutation_p.E1252Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1252Q	p.E1212Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			28	3771	-	Breast(10;4.56e-13)		1212					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3634G>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248722	0.22880	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.86627	-2.14;-2.15	4.73	3.75	0.43078	.	0.241696	0.28284	N	0.015903	D	0.87684	0.6239	M	0.74258	2.255	0.09310	N	1	P;B;P	0.48640	0.913;0.312;0.913	P;B;P	0.47075	0.536;0.431;0.536	T	0.79317	-0.1853	10	0.18710	T	0.47	.	13.9597	0.64170	0.0:0.8464:0.1536:0.0	.	1252;1252;1212	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	Q	1212;1252	ENSP00000269080:E1212Q;ENSP00000402814:E1252Q	ENSP00000269080:E1212Q	E	-	1	0	ABCA8	64390409	0.032000	0.19561	0.026000	0.17262	0.966000	0.64601	1.583000	0.36579	1.330000	0.45394	0.467000	0.42956	GAA		0.343	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		28	79	0	0	0	1	0	28	79				
TLR8	51311	broad.mit.edu	37	X	12939092	12939092	+	Missense_Mutation	SNP	G	G	A	rs184806389		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:12939092G>A	ENST00000218032.6	+	2	2020	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	TLR8_ENST00000311912.5_Missense_Mutation_p.D663N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	645					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GACACGTCTGGATTTATCCCT	0.368																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1933-1935)Gat>Aat		toll-like receptor 8							58.0	59.0	59.0					X																	12939092		2202	4298	6500	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939092G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1933G>A	X.37:g.12939092G>A	ENSP00000218032:p.Asp645Asn					TLR8_ENST00000311912.5_Missense_Mutation_p.D663N	p.D645N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2020	+			645					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1933G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510261	0.44660	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.80824	-1.42;-1.42	5.82	4.04	0.47022	.	0.169611	0.27323	N	0.019888	D	0.86789	0.6017	L	0.58925	1.835	0.51012	D	0.999908	D;D	0.65815	0.995;0.995	D;D	0.63703	0.917;0.917	D	0.87226	0.2257	10	0.87932	D	0	.	15.7963	0.78412	0.0:0.2499:0.7501:0.0	.	645;663	Q9NR97;D1CS70	TLR8_HUMAN;.	N	645;663	ENSP00000218032:D645N;ENSP00000312082:D663N	ENSP00000218032:D645N	D	+	1	0	TLR8	12849013	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	5.694000	0.68272	0.604000	0.29930	0.600000	0.82982	GAT		0.368	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		44	32	0	0	0	1	0	44	32				
CHD7	55636	broad.mit.edu	37	8	61736513	61736513	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:61736513G>A	ENST00000423902.2	+	13	3795	c.3316G>A	c.(3316-3318)Gaa>Aaa	p.E1106K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E1106K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1106	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTCATTGATGAAGCCCACAG	0.458																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3316-3318)Gaa>Aaa		chromodomain helicase DNA binding protein 7							130.0	129.0	129.0					8																	61736513		2069	4237	6306	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61736513G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3316G>A	8.37:g.61736513G>A	ENSP00000392028:p.Glu1106Lys					CHD7_ENST00000525508.1_Missense_Mutation_p.E1106K|CHD7_ENST00000524602.1_Intron	p.E1106K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		13	3795	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1106			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3316G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	37	6.127568	0.97305	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.99674	-6.36;-6.36	5.72	5.72	0.89469	DEAD-like helicase (2);SNF2-related (1);	0.061993	0.64402	D	0.000006	D	0.99883	0.9944	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	0.988;1.0	D;D	0.83275	0.981;0.996	D	0.96461	0.9341	10	0.87932	D	0	-22.8624	20.2406	0.98372	0.0:0.0:1.0:0.0	.	1106;1106	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	K	1106	ENSP00000392028:E1106K;ENSP00000436027:E1106K	ENSP00000307304:E1106K	E	+	1	0	CHD7	61899067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	GAA		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		43	164	0	0	0	1	0	43	164				
ZCCHC8	55596	broad.mit.edu	37	12	122966509	122966509	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:122966509G>C	ENST00000336229.4	-	9	988	c.858C>G	c.(856-858)ttC>ttG	p.F286L	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.F48L|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.F48L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	286					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCCTGGCTTGAATCTTCCAA	0.378																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(142-144)ttC>ttG		zinc finger, CCHC domain containing 8							123.0	116.0	119.0					12																	122966509		1858	4101	5959	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122966509G>C	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.858C>G	12.37:g.122966509G>C	ENSP00000337313:p.Phe286Leu					ZCCHC8_ENST00000336229.4_Missense_Mutation_p.F286L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.F48L	p.F48L			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	7	2499	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		286					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.144C>G		.	.	.	.	.	.	.	.	.	.	G	21.7	4.180811	0.78677	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.49139	0.86;0.86;0.79	5.63	4.75	0.60458	PSP, proline-rich (1);	0.049323	0.85682	D	0.000000	T	0.31482	0.0798	N	0.14661	0.345	0.47183	D	0.999343	D	0.53151	0.958	B	0.44224	0.444	T	0.09796	-1.0658	10	0.45353	T	0.12	-8.5734	8.8655	0.35282	0.236:0.0:0.764:0.0	.	286	Q6NZY4	ZCHC8_HUMAN	L	48;48;286;48;48	ENSP00000441423:F48L;ENSP00000438993:F48L;ENSP00000337313:F286L	ENSP00000337313:F286L	F	-	3	2	ZCCHC8	121532462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.384000	0.52478	1.387000	0.46486	0.455000	0.32223	TTC		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		20	31	0	0	0	1	0	20	31				
COL7A1	1294	broad.mit.edu	37	3	48612946	48612946	+	Silent	SNP	G	G	A	rs200826090		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:48612946G>A	ENST00000328333.8	-	73	6113	c.6006C>T	c.(6004-6006)cgC>cgT	p.R2002R	COL7A1_ENST00000454817.1_Silent_p.R1970R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2002	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTCAGCCCGCGTTCTCCAG	0.697																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6004-6006)cgC>cgT		collagen, type VII, alpha 1							19.0	23.0	22.0					3																	48612946		2199	4288	6487	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612946G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6006C>T	3.37:g.48612946G>A						COL7A1_ENST00000454817.1_Silent_p.R1970R	p.R2002R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6113	-			2002			Triple-helical region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.6006C>T	CCDS2773.1																																																																																				0.697	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		34	20	0	0	0	1	0	34	20				
SLC22A11	55867	broad.mit.edu	37	11	64335074	64335074	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:64335074C>G	ENST00000301891.4	+	7	1436	c.1062C>G	c.(1060-1062)ttC>ttG	p.F354L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F354L|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	354					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCGCAGTTTCTCTCTATTGA	0.632																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1060-1062)ttC>ttG		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						83.0	95.0	91.0					11																	64335074		2195	4296	6491	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335074C>G	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1062C>G	11.37:g.64335074C>G	ENSP00000301891:p.Phe354Leu					SLC22A11_ENST00000377581.3_Missense_Mutation_p.F354L|SLC22A11_ENST00000377585.3_Intron	p.F354L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			7	1436	+			354					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1062C>G	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502202	0.44455	.	.	ENSG00000168065	ENST00000301891;ENST00000377581;ENST00000416590	T;T;D	0.81659	-0.77;-0.77;-1.52	3.06	1.04	0.20106	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.077272	0.52532	U	0.000066	D	0.83543	0.5277	M	0.63208	1.945	0.09310	N	1	P;D	0.76494	0.86;0.999	P;D	0.76071	0.519;0.987	T	0.71414	-0.4600	10	0.40728	T	0.16	.	4.747	0.13042	0.0:0.6474:0.2202:0.1324	.	354;354	A6NCG2;Q9NSA0	.;S22AB_HUMAN	L	354;354;1	ENSP00000301891:F354L;ENSP00000366804:F354L;ENSP00000413508:F1L	ENSP00000301891:F354L	F	+	3	2	SLC22A11	64091650	0.954000	0.32549	0.002000	0.10522	0.023000	0.10783	0.791000	0.26915	0.135000	0.18707	0.505000	0.49811	TTC		0.632	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		67	142	0	0	0	1	0	67	142				
NADK	65220	broad.mit.edu	37	1	1687999	1687999	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1687999T>A	ENST00000341426.5	-	5	663	c.442A>T	c.(442-444)Atc>Ttc	p.I148F	NADK_ENST00000341991.3_Missense_Mutation_p.I148F|NADK_ENST00000344463.4_Missense_Mutation_p.I293F|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000342348.5_Missense_Mutation_p.I116F|NADK_ENST00000378625.1_Missense_Mutation_p.I293F	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	148					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCGCTGGCGATGGCAGGGTCT	0.517																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(877-879)Atc>Ttc		NAD kinase							149.0	125.0	133.0					1																	1687999		2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1687999T>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.442A>T	1.37:g.1687999T>A	ENSP00000341679:p.Ile148Phe					NADK_ENST00000342348.5_Missense_Mutation_p.I116F|NADK_ENST00000341991.3_Missense_Mutation_p.I148F|NADK_ENST00000378625.1_Missense_Mutation_p.I293F|NADK_ENST00000341426.5_Missense_Mutation_p.I148F	p.I293F			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	7	1098	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	148					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.877A>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224514	0.39300	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.43294	1.03;1.03;0.95;0.95;1.03;1.03	5.77	4.62	0.57501	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.144531	0.64402	D	0.000018	T	0.38241	0.1033	N	0.16233	0.39	0.58432	D	0.999994	B;P;B;P	0.48764	0.292;0.915;0.368;0.573	B;P;B;P	0.55161	0.098;0.77;0.271;0.598	T	0.08229	-1.0732	10	0.17832	T	0.49	-17.4637	11.9377	0.52882	0.0:0.0:0.1458:0.8542	.	116;293;293;148	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	F	148;148;293;293;116;116	ENSP00000341679:I148F;ENSP00000344340:I148F;ENSP00000367890:I293F;ENSP00000340925:I293F;ENSP00000339727:I116F;ENSP00000383713:I116F	ENSP00000341679:I148F	I	-	1	0	NADK	1677859	1.000000	0.71417	0.862000	0.33874	0.839000	0.47603	3.174000	0.50847	0.989000	0.38761	0.459000	0.35465	ATC		0.517	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		30	63	0	0	0	1	0	30	63				
NPC1	4864	broad.mit.edu	37	18	21121106	21121106	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:21121106C>T	ENST00000269228.5	-	16	2994	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E496K	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	814					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAACAGCTCTCTGAGGCCTGG	0.463																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2440-2442)Gag>Aag		Niemann-Pick disease, type C1							113.0	111.0	112.0					18																	21121106		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21121106C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2440G>A	18.37:g.21121106C>T	ENSP00000269228:p.Glu814Lys					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E496K	p.E814K	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			16	2994	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		814					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2440G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066753	0.55539	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.94184	-3.37;-3.29	5.89	4.97	0.65823	.	0.152377	0.64402	D	0.000017	D	0.90150	0.6922	L	0.55017	1.72	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	D	0.85545	0.1218	10	0.44086	T	0.13	-26.1276	9.9598	0.41688	0.0:0.789:0.1395:0.0715	.	825;814	Q59GR1;O15118	.;NPC1_HUMAN	K	814;496;659	ENSP00000269228:E814K;ENSP00000408606:E496K	ENSP00000269228:E814K	E	-	1	0	NPC1	19375104	0.985000	0.35326	0.884000	0.34674	0.621000	0.37620	2.679000	0.46909	2.793000	0.96121	0.561000	0.74099	GAG		0.463	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		58	94	0	0	0	1	0	58	94				
TOP2B	7155	broad.mit.edu	37	3	25639816	25639816	+	Silent	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:25639816A>G	ENST00000264331.4	-	36	4862	c.4863T>C	c.(4861-4863)gaT>gaC	p.D1621D	TOP2B_ENST00000540199.1_Silent_p.D473D|TOP2B_ENST00000542520.1_Silent_p.D473D|TOP2B_ENST00000435706.2_Silent_p.D1616D	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1621				D -> H (in Ref. 4; CAA09753). {ECO:0000305}.	ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	ACATTGCAAAATCAACATCAT	0.398																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4846-4848)gaT>gaC		topoisomerase (DNA) II beta 180kDa							143.0	146.0	145.0					3																	25639816		1878	4101	5979	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25639816A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4863T>C	3.37:g.25639816A>G						TOP2B_ENST00000264331.4_Silent_p.D1621D|TOP2B_ENST00000540199.1_Silent_p.D473D|TOP2B_ENST00000542520.1_Silent_p.D473D	p.D1616D			Q02880	TOP2B_HUMAN			36	5049	-			1621					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.4848T>C																																																																																					0.398	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				49	41	0	0	0	1	0	49	41				
DCAF11	80344	broad.mit.edu	37	14	24589040	24589040	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24589040G>A	ENST00000446197.3	+	11	1754	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	DCAF11_ENST00000396936.1_Missense_Mutation_p.D243N|DCAF11_ENST00000559115.1_Missense_Mutation_p.D343N|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.D317N	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	343					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											CATGCGGGAGGATGACCCCAA	0.567																																						ENST00000446197.3																			0											c.(1027-1029)Gat>Aat		DDB1 and CUL4 associated factor 11							68.0	57.0	60.0					14																	24589040		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24589040G>A	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1027G>A	14.37:g.24589040G>A	ENSP00000415556:p.Asp343Asn					DCAF11_ENST00000396936.1_Missense_Mutation_p.D243N|DCAF11_ENST00000396941.4_Missense_Mutation_p.D317N|DCAF11_ENST00000559115.1_Missense_Mutation_p.D343N	p.D343N	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1754	+			343					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.1027G>A	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	19.21	3.784151	0.70222	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T;T	0.64260	0.19;0.6;-0.09	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	N	0.03115	-0.41	0.80722	D	1	B;B;B;B;B	0.23806	0.07;0.045;0.041;0.091;0.026	B;B;B;B;B	0.22386	0.021;0.023;0.03;0.039;0.018	T	0.34625	-0.9821	10	0.16896	T	0.51	-14.17	17.9218	0.88969	0.0:0.0:1.0:0.0	.	266;317;243;343;343	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	N	343;317;243;317	ENSP00000415556:D317N;ENSP00000380142:D243N;ENSP00000380146:D317N	ENSP00000323680:D343N	D	+	1	0	DCAF11	23658880	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	8.296000	0.89940	2.837000	0.97791	0.655000	0.94253	GAT		0.567	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			13	25	0	0	0	1	0	13	25				
GPR65	8477	broad.mit.edu	37	14	88477678	88477678	+	Missense_Mutation	SNP	G	G	A	rs181129859		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:88477678G>A	ENST00000267549.3	+	2	1045	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	163					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGCGATGCCGAAAAGTCTAA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		23608	0.001		0.0	False		,,,				2504	0.0					ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(487-489)Gaa>Aaa		G protein-coupled receptor 65		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	135.0	129.0	131.0		487	-6.7	0.0	14		131	2,8598	2.2+/-6.3	0,2,4298	no	missense	GPR65	NM_003608.3	56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	163/338	88477678	3,13003	2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477678G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.487G>A	14.37:g.88477678G>A	ENSP00000267549:p.Glu163Lys					RP11-300J18.2_ENST00000554433.1_RNA	p.E163K	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	1045	+			163					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.487G>A	CCDS9879.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.251	0.231772	0.09969	2.27E-4	2.33E-4	ENSG00000140030	ENST00000267549	T	0.36878	1.23	5.82	-6.74	0.01743	GPCR, rhodopsin-like superfamily (1);	1.632780	0.04102	N	0.313054	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17715	-1.0360	10	0.17369	T	0.5	.	6.9106	0.24333	0.3001:0.3488:0.3511:0.0	.	163	Q8IYL9	PSYR_HUMAN	K	163	ENSP00000267549:E163K	ENSP00000267549:E163K	E	+	1	0	GPR65	87547431	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.969000	0.29370	-1.250000	0.02497	-1.258000	0.01471	GAA		0.393	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			5	224	0	0	0	1	0	5	224				
TOPBP1	11073	broad.mit.edu	37	3	133368726	133368726	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:133368726C>G	ENST00000260810.5	-	9	1282	c.1151G>C	c.(1150-1152)gGa>gCa	p.G384A	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	384	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AACTCCACCTCCACTGTTAAT	0.338								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1150-1152)gGa>gCa	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							71.0	67.0	68.0					3																	133368726		1845	4089	5934	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133368726C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1151G>C	3.37:g.133368726C>G	ENSP00000260810:p.Gly384Ala					TOPBP1_ENST00000511439.1_5'UTR	p.G384A	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			9	1282	-			384			BRCT 3.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1151G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016824	0.54576	.	.	ENSG00000163781	ENST00000260810	T	0.78595	-1.19	5.62	5.62	0.85841	BRCT (4);	0.110387	0.64402	D	0.000009	T	0.77671	0.4165	N	0.25144	0.715	0.50632	D	0.999882	P	0.50617	0.937	P	0.54544	0.755	T	0.74959	-0.3486	10	0.28530	T	0.3	.	19.6606	0.95868	0.0:1.0:0.0:0.0	.	384	Q92547	TOPB1_HUMAN	A	384	ENSP00000260810:G384A	ENSP00000260810:G384A	G	-	2	0	TOPBP1	134851416	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.644000	0.67902	2.643000	0.89663	0.650000	0.86243	GGA		0.338	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		19	34	0	0	0	1	0	19	34				
XAF1	54739	broad.mit.edu	37	17	6663752	6663752	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:6663752G>C	ENST00000361842.3	+	4	492	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	XAF1_ENST00000346752.4_Missense_Mutation_p.E66Q|XAF1_ENST00000438512.1_Missense_Mutation_p.E85Q|XAF1_ENST00000441631.1_Missense_Mutation_p.E85Q	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	85			E -> G (in dbSNP:rs34195599).		apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GCGCCCTGTTGAGTGTAAGTT	0.527																																						ENST00000361842.3																			0				large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(253-255)Gag>Cag		XIAP associated factor 1							32.0	27.0	29.0					17																	6663752		2203	4300	6503	SO:0001583	missense	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6663752G>C	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.253G>C	17.37:g.6663752G>C	ENSP00000354822:p.Glu85Gln					XAF1_ENST00000346752.4_Missense_Mutation_p.E66Q|XAF1_ENST00000438512.1_Missense_Mutation_p.E85Q|XAF1_ENST00000441631.1_Missense_Mutation_p.E85Q	p.E85Q	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN			4	492	+			85		E -> G (in dbSNP:rs34195599).			A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	c.253G>C	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	G	9.878	1.200905	0.22121	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	4.23	-3.93	0.04143	Zinc finger, TRAF-type (1);	1.340490	0.04917	N	0.454304	T	0.25344	0.0616	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.50943	0.677;0.782;0.94;0.48	B;B;P;B	0.47528	0.158;0.308;0.549;0.246	T	0.25363	-1.0134	10	0.16896	T	0.51	-5.4816	4.5277	0.11990	0.3764:0.3034:0.3202:0.0	.	85;66;85;25	C9J7Z8;Q6GPH4-2;Q6GPH4;B3KPW1	.;.;XAF1_HUMAN;.	Q	85;85;66;85	ENSP00000354822:E85Q;ENSP00000413199:E85Q;ENSP00000341029:E66Q;ENSP00000406233:E85Q	ENSP00000341029:E66Q	E	+	1	0	XAF1	6604476	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.120000	0.03273	-0.373000	0.07979	-0.519000	0.04390	GAG		0.527	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		8	20	0	0	0	1	0	8	20				
KIAA1109	84162	broad.mit.edu	37	4	123192658	123192658	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:123192658G>T	ENST00000264501.4	+	47	8352	c.7979G>T	c.(7978-7980)aGa>aTa	p.R2660I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2660I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2660I			Q2LD37	K1109_HUMAN	KIAA1109	2660					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATTAGGAAGATCTGAAAGA	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(7978-7980)aGa>aTa		KIAA1109							76.0	72.0	73.0					4																	123192658		1851	4099	5950	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192658G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7979G>T	4.37:g.123192658G>T	ENSP00000264501:p.Arg2660Ile					KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2660I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2660I	p.R2660I			Q2LD37	K1109_HUMAN			47	8352	+			2660					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7979G>T	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.9|25.9|25.9	4.686621|4.686621|4.686621	0.88639|0.88639|0.88639	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|.|T;T;T	.|.|0.26660	.|.|2.31;2.31;1.72	5.88|5.88|5.88	5.88|5.88|5.88	0.94601|0.94601|0.94601	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.39384|0.39384|0.39384	0.1076|0.1076|0.1076	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.69078	.|.|0.994;0.997;0.995	.|.|D;D;D	.|.|0.78314	.|.|0.975;0.991;0.986	T|T|T	0.17048|0.17048|0.17048	-1.0382|-1.0382|-1.0382	5|5|10	.|.|0.46703	.|.|T	.|.|0.11	.|.|.	20.2165|20.2165|20.2165	0.98299|0.98299|0.98299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|2660;2659;2660	.|.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.|.;.;K1109_HUMAN	Y|N|I	1233|617|2660	.|.|ENSP00000264501:R2660I;ENSP00000373390:R2660I;ENSP00000389925:R2660I	.|.|ENSP00000264501:R2660I	D|K|R	+|+|+	1|3|2	0|2|0	KIAA1109|KIAA1109|KIAA1109	123412108|123412108|123412108	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	8.618000|8.618000|8.618000	0.90932|0.90932|0.90932	2.787000|2.787000|2.787000	0.95880|0.95880|0.95880	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAT|AAG|AGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		13	36	1	0	4.36969e-10	1	4.51385e-10	13	36				
PCDHGA12	26025	broad.mit.edu	37	5	140811313	140811313	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	329	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(985-987)gcG>gcA									136.0	126.0	129.0					5																	140811313		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140811313G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.987G>A	5.37:g.140811313G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.A329A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1129	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.987G>A	CCDS4260.1																																																																																				0.512	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		44	138	0	0	0	1	0	44	138				
CDC25A	993	broad.mit.edu	37	3	48205825	48205825	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:48205825C>T	ENST00000302506.3	-	13	1702	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	CDC25A_ENST00000459900.1_5'Flank|CDC25A_ENST00000351231.3_Missense_Mutation_p.E392K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	432	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGAAAACTCGCAGTGAAAC	0.498																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1294-1296)Gag>Aag		cell division cycle 25A							163.0	142.0	149.0					3																	48205825		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48205825C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1294G>A	3.37:g.48205825C>T	ENSP00000303706:p.Glu432Lys					CDC25A_ENST00000351231.3_Missense_Mutation_p.E392K	p.E432K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	13	1702	-			432			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1294G>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219446	0.95139	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.31510	1.49;1.49	5.67	4.78	0.61160	Rhodanese-like (5);	0.093535	0.64402	D	0.000001	T	0.57460	0.2055	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63825	-0.6549	10	0.87932	D	0	.	13.7669	0.63002	0.1548:0.8452:0.0:0.0	.	392;432	P30304-2;P30304	.;MPIP1_HUMAN	K	432;392	ENSP00000303706:E432K;ENSP00000343166:E392K	ENSP00000303706:E432K	E	-	1	0	CDC25A	48180829	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.136000	0.77285	1.371000	0.46172	-0.314000	0.08810	GAG		0.498	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	133	0	0	0	1	0	7	133				
MTRF1	9617	broad.mit.edu	37	13	41826842	41826842	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:41826842C>T	ENST00000379480.4	-	5	736	c.636G>A	c.(634-636)caG>caA	p.Q212Q	MTRF1_ENST00000379477.1_Silent_p.Q212Q|MTRF1_ENST00000430347.2_Silent_p.Q225Q|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	212					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		ACGAATAATTCTGGTACATGT	0.363																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(634-636)caG>caA		mitochondrial translational release factor 1							74.0	71.0	72.0					13																	41826842		2202	4300	6502	SO:0001819	synonymous_variant	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41826842C>T	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.636G>A	13.37:g.41826842C>T						MTRF1_ENST00000430347.2_Silent_p.Q225Q|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Silent_p.Q212Q	p.Q212Q	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	5	736	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	212					B4DG01|Q5T6Y5|Q8IUQ6	Silent	SNP	ENST00000379480.4	37	c.636G>A	CCDS9378.1																																																																																				0.363	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		12	49	0	0	0	1	0	12	49				
ATP11A	23250	broad.mit.edu	37	13	113530244	113530244	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:113530244G>C	ENST00000487903.1	+	28	3404	c.3316G>C	c.(3316-3318)Gag>Cag	p.E1106Q	ATP11A_ENST00000375645.3_Missense_Mutation_p.E1106Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E1106Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E1106Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1106					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AACAGCAACAGAGAGAGTCCA	0.632																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(3316-3318)Gag>Cag		ATPase, class VI, type 11A							37.0	37.0	37.0					13																	113530244		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113530244G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3316G>C	13.37:g.113530244G>C	ENSP00000420387:p.Glu1106Gln					ATP11A_ENST00000375645.3_Missense_Mutation_p.E1106Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E1106Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E1106Q	p.E1106Q			P98196	AT11A_HUMAN			28	3404	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1106					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3316G>C	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.440834|2.440834	0.43326|0.43326	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631|ENST00000415301	T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.420416|.	0.26079|.	N|.	0.026479|.	T|T	0.69061|0.69061	0.3069|0.3069	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.21688|.	0.059;0.021|.	B;B|.	0.20184|.	0.028;0.028|.	T|T	0.67221|0.67221	-0.5725|-0.5725	10|5	0.23302|.	T|.	0.38|.	.|.	17.8446|17.8446	0.88725|0.88725	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1106;1106|.	E9PEJ6;P98196|.	.;AT11A_HUMAN|.	Q|T	1106;1106;1106;1106;98|41	ENSP00000420387:E1106Q;ENSP00000364781:E1106Q;ENSP00000364796:E1106Q;ENSP00000283558:E1106Q;ENSP00000410824:E98Q|.	ENSP00000283558:E1106Q|.	E|R	+|+	1|2	0|0	ATP11A|ATP11A	112578245|112578245	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.002000|0.002000	0.02628|0.02628	7.077000|7.077000	0.76814|0.76814	2.198000|2.198000	0.70561|0.70561	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.632	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		19	52	0	0	0	1	0	19	52				
ACSL5	51703	broad.mit.edu	37	10	114172956	114172956	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:114172956G>C	ENST00000393081.1	+	12	1281	c.974G>C	c.(973-975)aGa>aCa	p.R325T	ACSL5_ENST00000354273.4_Missense_Mutation_p.R325T|ACSL5_ENST00000356116.1_Missense_Mutation_p.R381T|ACSL5_ENST00000433418.1_Missense_Mutation_p.R325T|ACSL5_ENST00000369410.3_Missense_Mutation_p.R107T|ACSL5_ENST00000354655.4_Missense_Mutation_p.R325T|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	325					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGTGGAGCCAGAGTTGGATTC	0.483																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(973-975)aGa>aCa		acyl-CoA synthetase long-chain family member 5							185.0	164.0	171.0					10																	114172956		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114172956G>C	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.974G>C	10.37:g.114172956G>C	ENSP00000376796:p.Arg325Thr					ACSL5_ENST00000433418.1_Missense_Mutation_p.R325T|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.R381T|ACSL5_ENST00000354273.4_Missense_Mutation_p.R325T|ACSL5_ENST00000354655.4_Missense_Mutation_p.R325T|ACSL5_ENST00000369410.3_Missense_Mutation_p.R107T	p.R325T	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	12	1281	+		Colorectal(252;0.117)|Breast(234;0.222)	325					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.974G>C	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072855	0.36566	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.7	-5.02	0.02982	AMP-dependent synthetase/ligase (1);	0.447921	0.27486	N	0.019152	T	0.36635	0.0974	L	0.48362	1.52	0.34858	D	0.74229	P;B;P;B	0.35600	0.454;0.408;0.511;0.283	P;B;B;B	0.45794	0.493;0.346;0.281;0.314	T	0.45483	-0.9258	10	0.54805	T	0.06	-2.0302	14.7734	0.69696	0.5917:0.0:0.4083:0.0	.	107;325;381;325	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	T	325;325;381;325;325;107	ENSP00000346680:R325T;ENSP00000376796:R325T;ENSP00000348429:R381T;ENSP00000403647:R325T;ENSP00000346223:R325T;ENSP00000358418:R107T	ENSP00000346223:R325T	R	+	2	0	ACSL5	114162946	0.002000	0.14202	0.764000	0.31436	0.303000	0.27691	-1.293000	0.02770	-0.962000	0.03604	-0.140000	0.14226	AGA		0.483	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		46	134	0	0	0	1	0	46	134				
RIMBP2	23504	broad.mit.edu	37	12	130935880	130935880	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:130935880C>T	ENST00000261655.4	-	5	476	c.313G>A	c.(313-315)Gag>Aag	p.E105K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.E13K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E13K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	105					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATAGCGCTCTCCTGACCTGGC	0.562																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(313-315)Gag>Aag		RIMS binding protein 2							44.0	42.0	43.0					12																	130935880		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130935880C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.313G>A	12.37:g.130935880C>T	ENSP00000261655:p.Glu105Lys					RIMBP2_ENST00000535703.1_Missense_Mutation_p.E13K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E13K	p.E105K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	476	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	105					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.313G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398413	0.25205	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20332	2.08;2.85;2.85	3.95	3.02	0.34903	.	0.518640	0.17572	N	0.169429	T	0.25419	0.0618	M	0.72118	2.19	0.34888	D	0.745259	B;B	0.11235	0.004;0.0	B;B	0.14023	0.01;0.001	T	0.23048	-1.0199	10	0.66056	D	0.02	-3.123	11.5192	0.50541	0.0:0.8184:0.1816:0.0	.	13;105	O15034-2;O15034	.;RIMB2_HUMAN	K	105;13;13;13	ENSP00000261655:E105K;ENSP00000440347:E13K;ENSP00000439159:E13K	ENSP00000261655:E105K	E	-	1	0	RIMBP2	129501833	1.000000	0.71417	0.307000	0.25127	0.075000	0.17131	2.985000	0.49362	0.610000	0.30035	0.561000	0.74099	GAG		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		23	38	0	0	0	1	0	23	38				
MLC1	23209	broad.mit.edu	37	22	50502550	50502550	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:50502550G>A	ENST00000311597.5	-	11	1578	c.972C>T	c.(970-972)atC>atT	p.I324I	MLC1_ENST00000431262.2_Silent_p.I294I|MLC1_ENST00000538737.1_Silent_p.I290I|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.I324I|MLC1_ENST00000450140.2_Silent_p.I272I|MLC1_ENST00000535444.1_Silent_p.I245I	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	324					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCACGCACTGGATGGCGGTGC	0.667																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(970-972)atC>atT		megalencephalic leukoencephalopathy with subcortical cysts 1							42.0	39.0	40.0					22																	50502550		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502550G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.972C>T	22.37:g.50502550G>A						MLC1_ENST00000535444.1_Silent_p.I245I|MLC1_ENST00000450140.2_Silent_p.I272I|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.I324I|MLC1_ENST00000538737.1_Silent_p.I290I|MLC1_ENST00000431262.2_Silent_p.I294I	p.I324I	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1578	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	324					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.972C>T	CCDS14083.1																																																																																				0.667	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		15	35	0	0	0	1	0	15	35				
TRPM7	54822	broad.mit.edu	37	15	50903317	50903317	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:50903317C>T	ENST00000313478.7	-	17	2534	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	TRPM7_ENST00000560955.1_Silent_p.L751L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	751					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCTCATATTCAGCCTTCCCA	0.333																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2251-2253)ctG>ctA		transient receptor potential cation channel, subfamily M, member 7							144.0	125.0	131.0					15																	50903317		1820	4089	5909	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50903317C>T	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2253G>A	15.37:g.50903317C>T						TRPM7_ENST00000560955.1_Silent_p.L751L	p.L751L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	17	2534	-			751					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.2253G>A	CCDS42035.1																																																																																				0.333	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		36	83	0	0	0	1	0	36	83				
FOXG1	2290	broad.mit.edu	37	14	29237439	29237439	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:29237439C>T	ENST00000313071.4	+	1	1153	c.954C>T	c.(952-954)caC>caT	p.H318H	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Silent_p.H318H|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	318				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCTGCACCACCCCCGCGCCA	0.667																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(952-954)caC>caT		forkhead box G1							76.0	85.0	82.0					14																	29237439		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237439C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.954C>T	14.37:g.29237439C>T						FOXG1_ENST00000313071.4_Silent_p.H318H	p.H318H			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1323	+			318	RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.954C>T	CCDS9636.1																																																																																				0.667	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			49	96	0	0	0	1	0	49	96				
IFT80	57560	broad.mit.edu	37	3	160073896	160073896	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:160073896G>A	ENST00000326448.7	-	8	1114	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	IFT80_ENST00000496589.1_Missense_Mutation_p.H91Y|IFT80_ENST00000483465.1_Missense_Mutation_p.H91Y|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.H399Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	228					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGATGCTCATGAGGTTGTGAA	0.393																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(682-684)Cat>Tat		intraflagellar transport 80 homolog (Chlamydomonas)							91.0	83.0	86.0					3																	160073896		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160073896G>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.682C>T	3.37:g.160073896G>A	ENSP00000312778:p.His228Tyr					IFT80_ENST00000483465.1_Missense_Mutation_p.H91Y|IFT80_ENST00000496589.1_Missense_Mutation_p.H91Y|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.H399Y	p.H228Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		8	1114	-			228					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.682C>T	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520855	0.27211	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.37	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.56097	U	0.000023	T	0.77903	0.4200	M	0.70842	2.15	0.80722	D	1	P	0.37708	0.606	B	0.34180	0.177	T	0.77208	-0.2672	10	0.39692	T	0.17	-15.7943	13.5991	0.62010	0.0744:0.0:0.9256:0.0	.	228	Q9P2H3	IFT80_HUMAN	Y	228;91;91;91	ENSP00000312778:H228Y;ENSP00000418196:H91Y;ENSP00000420646:H91Y;ENSP00000418602:H91Y	ENSP00000312778:H228Y	H	-	1	0	IFT80	161556590	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.212000	0.72188	1.268000	0.44264	0.655000	0.94253	CAT		0.393	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		43	93	0	0	0	1	0	43	93				
MNS1	55329	broad.mit.edu	37	15	56736662	56736662	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:56736662C>G	ENST00000260453.3	-	5	830	c.666G>C	c.(664-666)aaG>aaC	p.K222N	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	222	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTTCATAGATCTTCCTAACAA	0.328																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(664-666)aaG>aaC		meiosis-specific nuclear structural 1							100.0	93.0	95.0					15																	56736662		2191	4292	6483	SO:0001583	missense	55329				meiosis			g.chr15:56736662C>G	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.666G>C	15.37:g.56736662C>G	ENSP00000260453:p.Lys222Asn					TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	p.K222N	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	5	830	-			222			Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.666G>C	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530575	0.64860	.	.	ENSG00000138587	ENST00000260453	T	0.10477	2.87	5.43	-0.119	0.13543	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.80616	2.505	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.72032	D	0.01	-31.8708	11.7082	0.51610	0.0:0.6146:0.0:0.3854	.	222	Q8NEH6	MNS1_HUMAN	N	222	ENSP00000260453:K222N	ENSP00000260453:K222N	K	-	3	2	MNS1	54523954	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.605000	0.36815	-0.275000	0.09219	-0.323000	0.08544	AAG		0.328	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		23	46	0	0	0	1	0	23	46				
ZNF800	168850	broad.mit.edu	37	7	127014111	127014111	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:127014111G>A	ENST00000393313.1	-	5	1870	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	ZNF800_ENST00000265827.3_Missense_Mutation_p.P427S|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.P427S			Q2TB10	ZN800_HUMAN	zinc finger protein 800	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCATTCTGTGGAGAATGGGTA	0.363																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1279-1281)Cca>Tca		zinc finger protein 800							80.0	85.0	83.0					7																	127014111		2203	4298	6501	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014111G>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1279C>T	7.37:g.127014111G>A	ENSP00000376989:p.Pro427Ser					ZNF800_ENST00000393312.1_Missense_Mutation_p.P427S|ZNF800_ENST00000265827.3_Missense_Mutation_p.P427S	p.P427S			Q2TB10	ZN800_HUMAN			5	1870	-			427					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1279C>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083795	0.08583	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14022	2.54;2.54;2.54	5.83	5.83	0.93111	.	0.283326	0.33916	N	0.004421	T	0.07279	0.0184	N	0.08118	0	0.32600	N	0.526063	B;B	0.21381	0.055;0.055	B;B	0.17433	0.018;0.018	T	0.32295	-0.9912	8	.	.	.	2.5567	12.4192	0.55510	0.0762:0.0:0.9238:0.0	.	330;427	B7Z4V7;Q2TB10	.;ZN800_HUMAN	S	427	ENSP00000376989:P427S;ENSP00000265827:P427S;ENSP00000376988:P427S	.	P	-	1	0	ZNF800	126801347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.748000	0.62148	2.753000	0.94483	0.585000	0.79938	CCA		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		32	84	0	0	0	1	0	32	84				
MKL2	57496	broad.mit.edu	37	16	14340849	14340849	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:14340849G>C	ENST00000341243.5	+	10	1699	c.1699G>C	c.(1699-1701)Gag>Cag	p.E567Q	MKL2_ENST00000574045.1_Missense_Mutation_p.E578Q|MKL2_ENST00000318282.5_Missense_Mutation_p.E578Q|MKL2_ENST00000571589.1_Missense_Mutation_p.E578Q			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	567	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGAGAAAGAGAAGCAAAT	0.478																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1732-1734)Gag>Cag		MKL/myocardin-like 2							38.0	40.0	39.0					16																	14340849		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340849G>C	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1699G>C	16.37:g.14340849G>C	ENSP00000345841:p.Glu567Gln					MKL2_ENST00000318282.5_Missense_Mutation_p.E578Q|MKL2_ENST00000341243.5_Missense_Mutation_p.E567Q|MKL2_ENST00000574045.1_Missense_Mutation_p.E578Q	p.E578Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1904	+			567			Required for interaction with itself and with MKL1.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1732G>C		.	.	.	.	.	.	.	.	.	.	G	24.0	4.486948	0.84854	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	L	0.35644	1.08	0.51482	D	0.999925	P;D	0.71674	0.911;0.998	P;D	0.80764	0.609;0.994	T	0.60286	-0.7293	9	0.22109	T	0.4	-35.6622	19.0942	0.93242	0.0:0.0:1.0:0.0	.	578;578	B4DGT8;Q9ULH7-4	.;.	Q	578;567	.	ENSP00000339086:E578Q	E	+	1	0	MKL2	14248350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.817000	0.86213	2.758000	0.94735	0.655000	0.94253	GAG		0.478	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		21	42	0	0	0	1	0	21	42				
MARCH6	10299	broad.mit.edu	37	5	10400928	10400928	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:10400928C>T	ENST00000274140.5	+	11	1078	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	MARCH6_ENST00000503788.1_Missense_Mutation_p.L211F|MARCH6_ENST00000510792.1_5'Flank|MARCH6_ENST00000449913.2_Missense_Mutation_p.L268F	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	316					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCATTTCTCCCTTGTTGGTTT	0.328																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(946-948)Ctt>Ttt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							133.0	125.0	128.0					5																	10400928		2203	4299	6502	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10400928C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.946C>T	5.37:g.10400928C>T	ENSP00000274140:p.Leu316Phe					MARCH6_ENST00000449913.2_Missense_Mutation_p.L268F|MARCH6_ENST00000503788.1_Missense_Mutation_p.L211F	p.L316F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			11	1078	+			316					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.946C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109956	0.77210	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.50813	1.75;0.73;1.78	5.7	4.81	0.61882	.	0.123969	0.53938	D	0.000060	T	0.52419	0.1733	M	0.77103	2.36	0.80722	D	1	P;B;P	0.35656	0.512;0.331;0.514	B;B;B	0.42653	0.394;0.155;0.131	T	0.57021	-0.7882	10	0.54805	T	0.06	-24.0126	7.8574	0.29491	0.1904:0.5257:0.2839:0.0	.	211;268;316	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	F	268;211;316	ENSP00000414643:L268F;ENSP00000425930:L211F;ENSP00000274140:L316F	ENSP00000274140:L316F	L	+	1	0	MARCH6	10453928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.249000	0.58766	2.687000	0.91594	0.591000	0.81541	CTT		0.328	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		37	106	0	0	0	1	0	37	106				
IQGAP2	10788	broad.mit.edu	37	5	75886384	75886384	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:75886384G>C	ENST00000274364.6	+	8	1089	c.792G>C	c.(790-792)aaG>aaC	p.K264N	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	264	Poly-Lys.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGCCAAAAAGAAAAAAGAGG	0.358																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(790-792)aaG>aaC		IQ motif containing GTPase activating protein 2							46.0	48.0	48.0					5																	75886384		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75886384G>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.792G>C	5.37:g.75886384G>C	ENSP00000274364:p.Lys264Asn					IQGAP2_ENST00000379730.3_5'UTR	p.K264N	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	8	1089	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	264			Poly-Lys.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.792G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904314	0.17760	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.40225	3.13;1.04;3.13	5.71	0.197	0.15164	.	0.491866	0.23787	N	0.044570	T	0.28001	0.0690	L	0.34521	1.04	0.09310	N	0.999997	B	0.16603	0.018	B	0.22386	0.039	T	0.23940	-1.0174	10	0.17832	T	0.49	-18.0716	10.8455	0.46741	0.5328:0.0:0.4672:0.0	.	264	Q13576	IQGA2_HUMAN	N	264;237;214	ENSP00000274364:K264N;ENSP00000423672:K237N;ENSP00000421097:K214N	ENSP00000274364:K264N	K	+	3	2	IQGAP2	75922140	0.013000	0.17824	0.545000	0.28153	0.997000	0.91878	-0.103000	0.10940	0.082000	0.17018	0.650000	0.86243	AAG		0.358	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		22	66	0	0	0	1	0	22	66				
ALG1	56052	broad.mit.edu	37	16	5121861	5121861	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:5121861C>T	ENST00000262374.5	+	1	42	c.11C>T	c.(10-12)tCa>tTa	p.S4L	ALG1_ENST00000544428.1_5'Flank|ALG1_ENST00000588623.1_Intron	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	4					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ATGGCGGCCTCATGCTTGGTC	0.716																																						ENST00000262374.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(10-12)tCa>tTa		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							13.0	14.0	13.0					16																	5121861		2185	4283	6468	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5121861C>T	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.11C>T	16.37:g.5121861C>T	ENSP00000262374:p.Ser4Leu					ALG1_ENST00000588623.1_Intron	p.S4L	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN			1	42	+		Ovarian(90;0.0164)	4					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.11C>T	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589655	0.13812	.	.	ENSG00000033011	ENST00000262374	T	0.78481	-1.18	4.81	2.85	0.33270	.	0.667354	0.15168	N	0.276799	T	0.60676	0.2287	N	0.20986	0.625	0.31252	N	0.693943	B	0.15141	0.012	B	0.17722	0.019	T	0.53337	-0.8453	10	0.15499	T	0.54	-7.8395	7.7989	0.29164	0.0:0.804:0.0:0.196	.	4	Q9BT22	ALG1_HUMAN	L	4	ENSP00000262374:S4L	ENSP00000262374:S4L	S	+	2	0	ALG1	5061862	0.000000	0.05858	0.042000	0.18584	0.002000	0.02628	0.994000	0.29693	0.468000	0.27243	-0.263000	0.10527	TCA		0.716	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		9	10	0	0	0	1	0	9	10				
PTPRU	10076	broad.mit.edu	37	1	29602185	29602185	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:29602185G>A	ENST00000345512.3	+	8	1499	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	PTPRU_ENST00000373779.3_Missense_Mutation_p.R457Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R457Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R457Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R457Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGCCCTATCGGAACGTTCAC	0.567																																						ENST00000373779.3																			1	Substitution - Missense(1)	p.R457Q(1)	upper_aerodigestive_tract(1)	breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1369-1371)cGg>cAg		protein tyrosine phosphatase, receptor type, U							161.0	124.0	137.0					1																	29602185		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29602185G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1370G>A	1.37:g.29602185G>A	ENSP00000334941:p.Arg457Gln					PTPRU_ENST00000323874.8_Missense_Mutation_p.R457Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R457Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R457Q	p.R457Q	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	8	1499	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	457			Fibronectin type-III 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1370G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746851	0.69418	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.4	5.4	0.78164	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.343888	0.26489	N	0.024097	T	0.40522	0.1120	L	0.47716	1.5	0.39128	D	0.961803	P;P;P;P;P	0.50710	0.938;0.938;0.938;0.898;0.898	B;B;B;B;B	0.39876	0.312;0.312;0.312;0.165;0.165	T	0.39121	-0.9629	9	.	.	.	.	13.8346	0.63402	0.076:0.0:0.924:0.0	.	457;457;457;457;457	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Q	457	ENSP00000334941:R457Q;ENSP00000362884:R457Q;ENSP00000349333:R457Q;ENSP00000314987:R457Q;ENSP00000392332:R457Q;ENSP00000432906:R457Q	.	R	+	2	0	PTPRU	29474772	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	1.458000	0.35223	2.695000	0.91970	0.643000	0.83706	CGG		0.567	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			19	32	0	0	0	1	0	19	32				
SYNE1	23345	broad.mit.edu	37	6	152708344	152708344	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:152708344C>T	ENST00000367255.5	-	54	8951	c.8350G>A	c.(8350-8352)Gaa>Aaa	p.E2784K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2784K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2823K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2784					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTGATCTTCTGCCTCAGAC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8350-8352)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							243.0	210.0	222.0					6																	152708344		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708344C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8350G>A	6.37:g.152708344C>T	ENSP00000356224:p.Glu2784Lys	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.E2823K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2784K	p.E2784K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8951	-		Ovarian(120;0.0955)	2784					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8350G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334458	0.60853	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.58	5.58	0.84498	.	0.197517	0.34676	N	0.003767	T	0.43233	0.1238	M	0.69823	2.125	0.80722	D	1	P;D;D;D	0.64830	0.682;0.983;0.983;0.994	B;P;P;P	0.62014	0.172;0.791;0.791;0.897	T	0.39418	-0.9615	10	0.06757	T	0.87	.	19.5825	0.95473	0.0:1.0:0.0:0.0	.	2767;2784;2784;2791	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2784;2791;2784;2791;2823	ENSP00000356224:E2784K;ENSP00000396024:E2791K;ENSP00000265368:E2784K;ENSP00000390975:E2791K;ENSP00000341887:E2823K	ENSP00000265368:E2784K	E	-	1	0	SYNE1	152750037	1.000000	0.71417	0.026000	0.17262	0.169000	0.22640	7.487000	0.81328	2.624000	0.88883	0.655000	0.94253	GAA		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		51	122	0	0	0	1	0	51	122				
SACS	26278	broad.mit.edu	37	13	23909724	23909724	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:23909724G>A	ENST00000382292.3	-	9	8564	c.8291C>T	c.(8290-8292)tCa>tTa	p.S2764L	SACS_ENST00000402364.1_Missense_Mutation_p.S2014L|SACS_ENST00000382298.3_Missense_Mutation_p.S2764L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2764					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCCTTTACTGAATACAGCAC	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8290-8292)tCa>tTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							83.0	78.0	80.0					13																	23909724		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909724G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8291C>T	13.37:g.23909724G>A	ENSP00000371729:p.Ser2764Leu					SACS_ENST00000402364.1_Missense_Mutation_p.S2014L|SACS_ENST00000382292.3_Missense_Mutation_p.S2764L	p.S2764L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8879	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2764					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8291C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005147	0.74932	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.33;-2.53;-2.33	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	L	0.52573	1.65	0.54753	D	0.999985	D	0.76494	0.999	D	0.78314	0.991	D	0.92010	0.5617	10	0.41790	T	0.15	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	2764	Q9NZJ4	SACS_HUMAN	L	2764;2014;2764	ENSP00000371729:S2764L;ENSP00000385844:S2014L;ENSP00000371735:S2764L	ENSP00000371729:S2764L	S	-	2	0	SACS	22807724	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	9.420000	0.97426	2.584000	0.87258	0.462000	0.41574	TCA		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		45	111	0	0	0	1	0	45	111				
MTHFR	4524	broad.mit.edu	37	1	11855277	11855277	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:11855277C>T	ENST00000376592.1	-	5	1037	c.909G>A	c.(907-909)gtG>gtA	p.V303V	MTHFR_ENST00000376585.1_Silent_p.V344V|MTHFR_ENST00000376583.3_Silent_p.V344V|MTHFR_ENST00000376590.3_Silent_p.V303V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	303					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGCACAGGCTCACGGCCAGCT	0.592																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(907-909)gtG>gtA		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						83.0	83.0	83.0					1																	11855277		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11855277C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.909G>A	1.37:g.11855277C>T						MTHFR_ENST00000376583.3_Silent_p.V344V|MTHFR_ENST00000376585.1_Silent_p.V344V|MTHFR_ENST00000376590.3_Silent_p.V303V	p.V303V			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	5	1037	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	303					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.909G>A	CCDS137.1																																																																																				0.592	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		19	55	0	0	0	1	0	19	55				
TMEM138	51524	broad.mit.edu	37	11	61131945	61131945	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:61131945C>G	ENST00000278826.6	+	2	642	c.83C>G	c.(82-84)tCa>tGa	p.S28*	TMEM138_ENST00000542946.1_Nonsense_Mutation_p.S28*|CYB561A3_ENST00000426130.2_5'Flank|CYB561A3_ENST00000546151.1_5'Flank|CYB561A3_ENST00000540317.1_5'Flank|TMEM138_ENST00000540194.1_3'UTR|CYB561A3_ENST00000447532.2_5'Flank|CYB561A3_ENST00000294072.4_5'Flank|TMEM138_ENST00000381787.2_5'Flank|CYB561A3_ENST00000544118.1_5'Flank	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	28					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						AATTCCTTCTCAGAACTGCTC	0.502																																						ENST00000542946.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(82-84)tCa>tGa		transmembrane protein 138							180.0	153.0	162.0					11																	61131945		2203	4299	6502	SO:0001587	stop_gained	51524					integral to membrane		g.chr11:61131945C>G	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.83C>G	11.37:g.61131945C>G	ENSP00000278826:p.Ser28*					TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Nonsense_Mutation_p.S28*	p.S28*			Q9NPI0	TM138_HUMAN			2	282	+			28					A6NGA7|B4E044|Q5JPE1	Nonsense_Mutation	SNP	ENST00000278826.6	37	c.83C>G	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	C	39	7.502934	0.98325	.	.	ENSG00000149483	ENST00000278826;ENST00000542946	.	.	.	5.32	5.32	0.75619	.	0.237333	0.36555	N	0.002535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.6195	18.6337	0.91370	0.0:1.0:0.0:0.0	.	.	.	.	X	28	.	ENSP00000278826:S28X	S	+	2	0	TMEM138	60888521	1.000000	0.71417	0.961000	0.40146	0.557000	0.35523	6.014000	0.70784	2.481000	0.83766	0.563000	0.77884	TCA		0.502	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464		34	71	0	0	0	1	0	34	71				
TF	7018	broad.mit.edu	37	3	133478161	133478161	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:133478161C>T	ENST00000402696.3	+	9	1676	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TF_ENST00000264998.3_Silent_p.I270I	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	397	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.I397I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AAGACTGCATCGCCAAGATCA	0.547																																						ENST00000402696.3																			1	Substitution - coding silent(1)	p.I397I(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1189-1191)atC>atT		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						166.0	152.0	157.0					3																	133478161		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133478161C>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1191C>T	3.37:g.133478161C>T						TF_ENST00000264998.3_Silent_p.I270I	p.I397I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			9	1676	+			397			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1191C>T	CCDS3080.1																																																																																				0.547	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		36	99	0	0	0	1	0	36	99				
CXorf40A	91966	broad.mit.edu	37	X	148627224	148627224	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:148627224C>G	ENST00000441248.1	+	3	1635	c.48C>G	c.(46-48)gtC>gtG	p.V16V	CXorf40A_ENST00000423421.1_Silent_p.V16V|CXorf40A_ENST00000359293.5_Silent_p.V16V|CXorf40A_ENST00000450602.2_Silent_p.V16V|CXorf40A_ENST00000393985.3_Silent_p.V16V|CXorf40A_ENST00000423540.2_Silent_p.V16V|CXorf40A_ENST00000514208.1_Silent_p.V16V|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000422892.2_Silent_p.V16V|CXorf40A_ENST00000434353.2_Silent_p.V16V|CXorf40A_ENST00000428236.1_Intron			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	16										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGCTTTGTCTTAAATGGAA	0.597																																						ENST00000441248.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(46-48)gtC>gtG		chromosome X open reading frame 40A							29.0	24.0	26.0					X																	148627224		2202	4298	6500	SO:0001819	synonymous_variant	91966						protein binding	g.chrX:148627224C>G	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.48C>G	X.37:g.148627224C>G						CXorf40A_ENST00000423540.2_Silent_p.V16V|CXorf40A_ENST00000393985.3_Silent_p.V16V|CXorf40A_ENST00000422892.2_Silent_p.V16V|CXorf40A_ENST00000450602.2_Silent_p.V16V|CXorf40A_ENST00000359293.5_Silent_p.V16V|CXorf40A_ENST00000423421.1_Silent_p.V16V|CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000434353.2_Silent_p.V16V|CXorf40A_ENST00000514208.1_Silent_p.V16V	p.V16V			Q8TE69	CX04A_HUMAN			3	1635	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		16					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Silent	SNP	ENST00000441248.1	37	c.48C>G	CCDS14687.1																																																																																				0.597	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		20	22	0	0	0	1	0	20	22				
NINL	22981	broad.mit.edu	37	20	25436402	25436402	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3862-3864)ctG>ctA		ninein-like							183.0	196.0	191.0					20																	25436402		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436402C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3864G>A	20.37:g.25436402C>T						NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	p.L1288L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	3937	-			1288					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3864G>A	CCDS33452.1																																																																																				0.537	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		108	263	0	0	0	1	0	108	263				
RASAL3	64926	broad.mit.edu	37	19	15569357	15569357	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:15569357C>T	ENST00000343625.7	-	7	857	c.772G>A	c.(772-774)Gag>Aag	p.E258K	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	258	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGTGGGGCTCCCCCAGGAGG	0.622																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(772-774)Gag>Aag		RAS protein activator like 3							43.0	47.0	45.0					19																	15569357		2078	4215	6293	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15569357C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.772G>A	19.37:g.15569357C>T	ENSP00000341905:p.Glu258Lys						p.E258K	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			7	852	-			258			PH.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.772G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931152	0.73327	.	.	ENSG00000105122	ENST00000343625	D	0.92647	-3.08	4.47	4.47	0.54385	Pleckstrin homology domain (1);	0.000000	0.32819	U	0.005606	D	0.91181	0.7222	L	0.37630	1.12	0.37266	D	0.907189	D	0.56968	0.978	P	0.52386	0.697	D	0.93230	0.6616	10	0.56958	D	0.05	.	14.6135	0.68531	0.0:1.0:0.0:0.0	.	258	Q86YV0	RASL3_HUMAN	K	258	ENSP00000341905:E258K	ENSP00000341905:E258K	E	-	1	0	RASAL3	15430357	0.672000	0.27530	1.000000	0.80357	0.748000	0.42578	1.226000	0.32563	2.045000	0.60652	0.491000	0.48974	GAG		0.622	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		17	16	0	0	0	1	0	17	16				
PEX5L	51555	broad.mit.edu	37	3	179519703	179519703	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:179519703G>C	ENST00000467460.1	-	15	2124	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	PEX5L_ENST00000485199.1_Silent_p.L563L|PEX5L_ENST00000472994.1_Silent_p.L539L|PEX5L_ENST00000464614.1_Silent_p.L490L|PEX5L_ENST00000465751.1_Silent_p.L574L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Silent_p.L406L|PEX5L_ENST00000392649.3_Silent_p.L490L|PEX5L_ENST00000476138.1_Silent_p.L555L|PEX5L_ENST00000263962.8_Silent_p.L596L|RP11-494H4.3_ENST00000602704.1_lincRNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	598					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCATCAGAGAGAGCGCAATTC	0.473																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1792-1794)ctC>ctG		peroxisomal biogenesis factor 5-like							160.0	169.0	165.0					3																	179519703		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179519703G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1794C>G	3.37:g.179519703G>C						PEX5L_ENST00000485199.1_Silent_p.L563L|PEX5L_ENST00000476138.1_Silent_p.L555L|PEX5L_ENST00000472994.1_Silent_p.L539L|PEX5L_ENST00000468741.1_Silent_p.L406L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.L574L|PEX5L_ENST00000464614.1_Silent_p.L490L|PEX5L_ENST00000392649.3_Silent_p.L490L|PEX5L_ENST00000263962.8_Silent_p.L596L	p.L598L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		15	2124	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		598					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.1794C>G	CCDS3236.1																																																																																				0.473	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		56	184	0	0	0	1	0	56	184				
DNMBP	23268	broad.mit.edu	37	10	101646294	101646294	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:101646294C>G	ENST00000324109.4	-	13	3472	c.3381G>C	c.(3379-3381)aaG>aaC	p.K1127N	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000342239.3_Missense_Mutation_p.K1151N|DNMBP_ENST00000543621.1_Missense_Mutation_p.K373N|DNMBP_ENST00000540316.1_Missense_Mutation_p.K63N	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1127	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGTCCAGGAGCTTGTCAAAGC	0.507																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3451-3453)aaG>aaC		dynamin binding protein							128.0	130.0	129.0					10																	101646294		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101646294C>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3381G>C	10.37:g.101646294C>G	ENSP00000315659:p.Lys1127Asn					DNMBP_ENST00000540316.1_Missense_Mutation_p.K63N|DNMBP_ENST00000543621.1_Missense_Mutation_p.K373N|DNMBP_ENST00000324109.4_Missense_Mutation_p.K1127N|DNMBP_ENST00000472036.1_5'UTR	p.K1151N			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	13	3544	-		Colorectal(252;0.234)	1127			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3453G>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147231	0.77888	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.82	5.82	0.92795	BAR (3);	0.000000	0.50627	D	0.000103	D	0.85720	0.5762	M	0.84082	2.675	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86798	0.1990	10	0.72032	D	0.01	-35.2933	10.5208	0.44918	0.0:0.8554:0.0:0.1446	.	1127;373;1151	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	N	1151;1127;373;373;63	ENSP00000344914:K1151N;ENSP00000315659:K1127N;ENSP00000443657:K373N;ENSP00000443573:K63N	ENSP00000315659:K1127N	K	-	3	2	DNMBP	101636284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.199000	0.42715	2.756000	0.94617	0.561000	0.74099	AAG		0.507	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		54	170	0	0	0	1	0	54	170				
HERC2	8924	broad.mit.edu	37	15	28370247	28370247	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:28370247G>T	ENST00000261609.7	-	84	13003	c.12895C>A	c.(12895-12897)Cag>Aag	p.Q4299K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCTTACCCTGAAGGGCAGCT	0.582																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12895-12897)Cag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase 2							198.0	182.0	188.0					15																	28370247		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370247G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12895C>A	15.37:g.28370247G>T	ENSP00000261609:p.Gln4299Lys						p.Q4299K	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	13003	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4299						Missense_Mutation	SNP	ENST00000261609.7	37	c.12895C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250265	0.95305	.	.	ENSG00000128731	ENST00000261609	T	0.79352	-1.26	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	N	0.17345	0.48	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	T	0.82242	-0.0554	10	0.49607	T	0.09	.	18.7201	0.91689	0.0:0.0:1.0:0.0	.	4299	O95714	HERC2_HUMAN	K	4299	ENSP00000261609:Q4299K	ENSP00000261609:Q4299K	Q	-	1	0	HERC2	26043842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.856000	0.99531	2.408000	0.81797	0.655000	0.94253	CAG		0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		56	197	1	0	2.47907e-22	1	2.62028e-22	56	197				
LUZP4	51213	broad.mit.edu	37	X	114540824	114540824	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:114540824G>C	ENST00000371920.3	+	4	404	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.E51Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	133						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGGCCAGTCAGAGGGGAACCA	0.433																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(397-399)Gag>Cag		leucine zipper protein 4							75.0	72.0	73.0					X																	114540824		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114540824G>C	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.397G>C	X.37:g.114540824G>C	ENSP00000360988:p.Glu133Gln					LUZP4_ENST00000451986.2_Missense_Mutation_p.E51Q	p.E133Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	404	+			133					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.397G>C	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021272	0.35701	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	D;T	0.81996	-1.56;-1.17	2.99	-0.128	0.13506	.	0.523251	0.14244	N	0.331866	T	0.69628	0.3132	L	0.29908	0.895	0.09310	N	1	P;P	0.41041	0.582;0.736	B;B	0.38803	0.282;0.207	T	0.59408	-0.7460	10	0.44086	T	0.13	.	6.5375	0.22363	0.4425:0.0:0.5575:0.0	.	51;133	B3KSD6;Q9P127	.;LUZP4_HUMAN	Q	51;133	ENSP00000411212:E51Q;ENSP00000360988:E133Q	ENSP00000360988:E133Q	E	+	1	0	LUZP4	114447080	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	0.266000	0.18534	-0.142000	0.11354	0.462000	0.41574	GAG		0.433	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		30	17	0	0	0	1	0	30	17				
C21orf33	8209	broad.mit.edu	37	21	45553591	45553591	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45553591G>A	ENST00000291577.6	+	1	105	c.12G>A	c.(10-12)gtG>gtA	p.V4V	C21orf33_ENST00000427803.2_Silent_p.V4V|C21orf33_ENST00000348499.5_Silent_p.V4V|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	4						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		TGGCGGCTGTGAGGGTCCTGG	0.692																																						ENST00000291577.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(10-12)gtG>gtA		chromosome 21 open reading frame 33							26.0	21.0	23.0					21																	45553591		2199	4291	6490	SO:0001819	synonymous_variant	8209					mitochondrion		g.chr21:45553591G>A	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.12G>A	21.37:g.45553591G>A						C21orf33_ENST00000427803.2_Silent_p.V4V|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Silent_p.V4V	p.V4V	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	1	105	+			4					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000291577.6	37	c.12G>A	CCDS33580.1																																																																																				0.692	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		3	8	0	0	0	1	0	3	8				
CELP	1057	broad.mit.edu	37	9	135961694	135961694	+	RNA	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:135961694G>A	ENST00000411440.2	+	0	529					NR_001275.2				carboxyl ester lipase pseudogene																		TCGGATGCCCGTCTACCCCAA	0.617																																						ENST00000411440.2																			0																																																			1057							g.chr9:135961694G>A	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135961694G>A								NR_001275.2						0	529	+									RNA	SNP	ENST00000411440.2	37																																																																																						0.617	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	25	0	0	0	1	0	3	25				
MED30	90390	broad.mit.edu	37	8	118541046	118541046	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:118541046G>A	ENST00000297347.3	+	2	498	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MED30_ENST00000522839.1_Missense_Mutation_p.E112K	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	112					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CATTCCAGTCGAGGTAATTTT	0.388																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(334-336)Gag>Aag		mediator complex subunit 30							110.0	114.0	112.0					8																	118541046		2203	4300	6503	SO:0001583	missense	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118541046G>A	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.334G>A	8.37:g.118541046G>A	ENSP00000297347:p.Glu112Lys					MED30_ENST00000522839.1_Missense_Mutation_p.E112K	p.E112K	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		2	498	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		112					C6GKU9	Missense_Mutation	SNP	ENST00000297347.3	37	c.334G>A	CCDS6323.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214792	0.79352	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.85	5.85	0.93711	Mediator complex, subunit Med30, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	L	0.60845	1.875	0.40705	D	0.982517	D;D	0.76494	0.997;0.999	P;D	0.64506	0.9;0.926	T	0.77958	-0.2392	9	0.87932	D	0	-8.9321	19.1612	0.93533	0.0:0.0:1.0:0.0	.	112;112	C6GKU9;Q96HR3	.;MED30_HUMAN	K	112	.	ENSP00000297347:E112K	E	+	1	0	MED30	118610227	1.000000	0.71417	0.971000	0.41717	0.112000	0.19704	9.405000	0.97313	2.768000	0.95171	0.655000	0.94253	GAG		0.388	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		31	170	0	0	0	1	0	31	170				
DRP2	1821	broad.mit.edu	37	X	100503251	100503251	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:100503251C>A	ENST00000395209.3	+	13	1953	c.1426C>A	c.(1426-1428)Ctc>Atc	p.L476I	DRP2_ENST00000538510.1_Missense_Mutation_p.L476I|DRP2_ENST00000541709.1_Missense_Mutation_p.L398I|DRP2_ENST00000402866.1_Missense_Mutation_p.L476I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	476					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGACATGAGCCTCAATTGGCT	0.493																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1426-1428)Ctc>Atc		dystrophin related protein 2							180.0	149.0	160.0					X																	100503251		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503251C>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1426C>A	X.37:g.100503251C>A	ENSP00000378635:p.Leu476Ile					DRP2_ENST00000541709.1_Missense_Mutation_p.L398I|DRP2_ENST00000402866.1_Missense_Mutation_p.L476I|DRP2_ENST00000538510.1_Missense_Mutation_p.L476I	p.L476I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			13	1953	+			476					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1426C>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442850	0.83993	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.17	5.17	0.71159	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	M	0.64567	1.98	0.80722	D	1	D	0.63046	0.992	D	0.83275	0.996	T	0.81497	-0.0906	10	0.37606	T	0.19	-13.1576	17.8817	0.88842	0.0:1.0:0.0:0.0	.	476	Q13474	DRP2_HUMAN	I	476;476;398;476	ENSP00000385038:L476I;ENSP00000378635:L476I;ENSP00000444752:L398I;ENSP00000441051:L476I	ENSP00000378635:L476I	L	+	1	0	DRP2	100389907	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.070000	0.71220	2.154000	0.67381	0.513000	0.50165	CTC		0.493	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		65	43	1	0	6.20203e-27	1	6.59707e-27	65	43				
BCL6	604	broad.mit.edu	37	3	187447584	187447584	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:187447584G>A	ENST00000406870.2	-	5	975	c.609C>T	c.(607-609)gtC>gtT	p.V203V	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.V203V|BCL6_ENST00000232014.4_Silent_p.V203V|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	203					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGAGGCTGCTGACAGGGAGGT	0.627			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(607-609)gtC>gtT		B-cell CLL/lymphoma 6							51.0	50.0	50.0					3																	187447584		2203	4300	6503	SO:0001819	synonymous_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447584G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.609C>T	3.37:g.187447584G>A						BCL6_ENST00000450123.2_Silent_p.V203V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.V203V	p.V203V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	975	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		203					A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.609C>T	CCDS3289.1																																																																																				0.627	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		15	43	0	0	0	1	0	15	43				
BAI3	577	broad.mit.edu	37	6	69943301	69943301	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:69943301G>C	ENST00000370598.1	+	18	3421	c.2600G>C	c.(2599-2601)aGa>aCa	p.R867T	BAI3_ENST00000238918.8_Missense_Mutation_p.R73T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	867	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGCAACCTAGAGAAATAGTA	0.443																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2599-2601)aGa>aCa		brain-specific angiogenesis inhibitor 3							139.0	127.0	131.0					6																	69943301		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69943301G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2600G>C	6.37:g.69943301G>C	ENSP00000359630:p.Arg867Thr					BAI3_ENST00000238918.8_Missense_Mutation_p.R73T	p.R867T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			18	3421	+		all_lung(197;0.212)	867			GPS.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2600G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366798	0.24771	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.20881	2.04;2.67	5.37	5.37	0.77165	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	M	0.79805	2.47	0.80722	D	1	D;P	0.53885	0.963;0.956	P;B	0.50570	0.644;0.444	T	0.08006	-1.0743	10	0.41790	T	0.15	.	19.1872	0.93648	0.0:0.0:1.0:0.0	.	73;867	B7Z356;O60242	.;BAI3_HUMAN	T	867;73	ENSP00000359630:R867T;ENSP00000238918:R73T	ENSP00000238918:R73T	R	+	2	0	BAI3	70000022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.983000	0.88140	2.539000	0.85634	0.454000	0.30748	AGA		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			38	104	0	0	0	1	0	38	104				
ZNF773	374928	broad.mit.edu	37	19	58017977	58017977	+	Missense_Mutation	SNP	G	G	C	rs139805602		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:58017977G>C	ENST00000282292.4	+	4	654	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E171Q	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TCACACGGGAGAGAAGTCACA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21235	0.001		0.0	False		,,,				2504	0.0					ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(514-516)Gag>Cag		zinc finger protein 773							48.0	49.0	48.0					19																	58017977		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017977G>C	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.514G>C	19.37:g.58017977G>C	ENSP00000282292:p.Glu172Gln					ZNF773_ENST00000598770.1_Missense_Mutation_p.E171Q|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	p.E172Q	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	654	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	172					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.514G>C	CCDS33134.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.567	-0.088352	0.07097	.	.	ENSG00000152439	ENST00000282292	T	0.01215	5.16	1.74	-1.12	0.09808	.	.	.	.	.	T	0.01254	0.0041	L	0.61387	1.9	0.09310	N	1	B;P	0.40050	0.008;0.7	B;B	0.30646	0.003;0.118	T	0.42189	-0.9466	9	0.72032	D	0.01	.	4.2301	0.10599	0.1667:0.2377:0.5956:0.0	.	171;172	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	Q	172	ENSP00000282292:E172Q	ENSP00000282292:E172Q	E	+	1	0	ZNF773	62709789	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.105000	0.15333	-0.377000	0.07930	0.313000	0.20887	GAG		0.478	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		8	35	0	0	0	1	0	8	35				
TMEM186	25880	broad.mit.edu	37	16	8889890	8889890	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:8889890G>C	ENST00000333050.6	-	2	594	c.561C>G	c.(559-561)ttC>ttG	p.F187L	PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000569958.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	187						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGGTGACGTAGAAGGTCTGTT	0.537																																						ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(559-561)ttC>ttG		transmembrane protein 186							181.0	148.0	159.0					16																	8889890		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8889890G>C	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.561C>G	16.37:g.8889890G>C	ENSP00000331640:p.Phe187Leu					TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	p.F187L	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	594	-			187					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.561C>G	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	G	7.142	0.581988	0.13749	.	.	ENSG00000184857	ENST00000333050	T	0.55760	0.5	5.28	5.28	0.74379	.	0.156184	0.29956	N	0.010772	T	0.36082	0.0954	L	0.45051	1.395	0.80722	D	1	P	0.35507	0.506	B	0.31495	0.131	T	0.21552	-1.0242	10	0.05959	T	0.93	-5.9663	9.2232	0.37390	0.0:0.1565:0.6818:0.1617	.	187	Q96B77	TM186_HUMAN	L	187	ENSP00000331640:F187L	ENSP00000331640:F187L	F	-	3	2	TMEM186	8797391	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	1.377000	0.34317	2.476000	0.83614	0.491000	0.48974	TTC		0.537	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		52	124	0	0	0	1	0	52	124				
CCDC88B	283234	broad.mit.edu	37	11	64108646	64108646	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:64108646C>G	ENST00000356786.5	+	4	428	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	128						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGACCCTCTCTCAGGTGCTC	0.607																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(382-384)ctC>ctG		coiled-coil domain containing 88B							98.0	89.0	92.0					11																	64108646		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64108646C>G	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.384C>G	11.37:g.64108646C>G						CCDC88B_ENST00000463837.1_3'UTR	p.L128L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			4	428	+			128					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.384C>G	CCDS8072.2																																																																																				0.607	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		25	61	0	0	0	1	0	25	61				
METTL23	124512	broad.mit.edu	37	17	74729704	74729704	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:74729704C>T	ENST00000341249.6	+	5	841	c.509C>T	c.(508-510)tCt>tTt	p.S170F	METTL23_ENST00000586752.1_Missense_Mutation_p.S103F|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000588822.1_Missense_Mutation_p.S103F|METTL23_ENST00000586200.1_Missense_Mutation_p.S51F|METTL23_ENST00000586738.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'Flank|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Missense_Mutation_p.S103F|METTL23_ENST00000588783.1_3'UTR|MFSD11_ENST00000588460.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	170						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						ATAGCAGAATCTACCCTTCCA	0.403																																						ENST00000341249.6																			0				large_intestine(2)|lung(1)	3						c.(508-510)tCt>tTt		methyltransferase like 23							149.0	148.0	148.0					17																	74729704		1895	4110	6005	SO:0001583	missense	124512					integral to membrane	methyltransferase activity	g.chr17:74729704C>T		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.509C>T	17.37:g.74729704C>T	ENSP00000341543:p.Ser170Phe					RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000590964.1_Missense_Mutation_p.S103F|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.S103F|METTL23_ENST00000588822.1_Missense_Mutation_p.S103F|METTL23_ENST00000586200.1_Missense_Mutation_p.S51F|METTL23_ENST00000586738.1_3'UTR	p.S170F	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN			5	841	+			170					H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	c.509C>T	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390397	0.62066	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.24350	1.86	5.93	5.93	0.95920	.	0.071185	0.64402	D	0.000002	T	0.26702	0.0653	L	0.41236	1.265	0.80722	D	1	P	0.40197	0.706	B	0.39617	0.305	T	0.00961	-1.1499	10	0.25106	T	0.35	-22.3831	20.3539	0.98825	0.0:1.0:0.0:0.0	.	170	Q86XA0	MET23_HUMAN	F	249;170	ENSP00000341543:S170F	ENSP00000316862:S249F	S	+	2	0	METTL23	72241299	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.315000	0.78998	2.826000	0.97356	0.655000	0.94253	TCT		0.403	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		55	117	0	0	0	1	0	55	117				
EPHA6	285220	broad.mit.edu	37	3	97467507	97467507	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:97467507C>A	ENST00000389672.5	+	18	3393	c.3355C>A	c.(3355-3357)Cac>Aac	p.H1119N		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1025						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTACGTTTACACATGATGCA	0.403																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(3355-3357)Cac>Aac		EPH receptor A6							112.0	105.0	107.0					3																	97467507		1957	4163	6120	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97467507C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3355C>A	3.37:g.97467507C>A	ENSP00000374323:p.His1119Asn						p.H1119N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			18	3393	+			1024					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.3355C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570724	0.65765	.	.	ENSG00000080224	ENST00000389672	T	0.06294	3.32	5.68	5.68	0.88126	.	.	.	.	.	T	0.16938	0.0407	L	0.43152	1.355	0.80722	D	1	.	.	.	.	.	.	T	0.00045	-1.2218	7	0.87932	D	0	.	19.7884	0.96447	0.0:1.0:0.0:0.0	.	.	.	.	N	1119	ENSP00000374323:H1119N	ENSP00000374323:H1119N	H	+	1	0	EPHA6	98950197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.666000	0.90696	0.650000	0.86243	CAC		0.403	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		6	19	1	0	0.0293803	1	0.0294391	6	19				
LRP1B	53353	broad.mit.edu	37	2	141135780	141135780	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:141135780C>G	ENST00000389484.3	-	68	11578	c.10607G>C	c.(10606-10608)gGa>gCa	p.G3536A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3536	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAAAATCTCCATCACACCA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10606-10608)gGa>gCa		low density lipoprotein receptor-related protein 1B							118.0	105.0	110.0					2																	141135780		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141135780C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10607G>C	2.37:g.141135780C>G	ENSP00000374135:p.Gly3536Ala	TSP Lung(27;0.18)					p.G3536A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	68	11578	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3536			LDL-receptor class A 26.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10607G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406089	0.62288	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96774	-4.12	5.48	5.48	0.80851	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98532	0.9510	M	0.91459	3.21	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98503	1.0615	10	0.41790	T	0.15	.	19.3528	0.94395	0.0:1.0:0.0:0.0	.	3536	Q9NZR2	LRP1B_HUMAN	A	3536;3474	ENSP00000374135:G3536A	ENSP00000374135:G3536A	G	-	2	0	LRP1B	140852250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.571000	0.86741	0.591000	0.81541	GGA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	79	0	0	0	1	0	27	79				
NHLRC2	374354	broad.mit.edu	37	10	115618363	115618363	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:115618363C>T	ENST00000369301.3	+	2	467	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	85	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.									breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TCCTTGATTTCTTCACCTACT	0.343																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(253-255)ttC>ttT		NHL repeat containing 2							193.0	179.0	184.0					10																	115618363		2203	4300	6503	SO:0001819	synonymous_variant	374354				cell redox homeostasis			g.chr10:115618363C>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.255C>T	10.37:g.115618363C>T							p.F85F	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	2	467	+			85			Thioredoxin.		Q8N1H1|Q8N5A6	Silent	SNP	ENST00000369301.3	37	c.255C>T	CCDS7585.1																																																																																				0.343	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		46	109	0	0	0	1	0	46	109				
RBM15B	29890	broad.mit.edu	37	3	51430187	51430187	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:51430187G>A	ENST00000323686.4	+	1	1457	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	453	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTCAAAGGAGATAGCTTTGC	0.582																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1357-1359)Gat>Aat		RNA binding motif protein 15B							88.0	93.0	92.0					3																	51430187		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430187G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1357G>A	3.37:g.51430187G>A	ENSP00000313890:p.Asp453Asn						p.D453N	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1457	+			453			RRM 3.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1357G>A	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325746	0.95708	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.15487	2.42	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.36717	0.0977	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.04294	-1.0962	9	0.56958	D	0.05	-20.0605	19.0953	0.93248	0.0:0.0:1.0:0.0	.	453	Q8NDT2	RB15B_HUMAN	N	453;126	ENSP00000313890:D453N	ENSP00000313890:D453N	D	+	1	0	RBM15B	51405227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.502000	0.84385	0.655000	0.94253	GAT		0.582	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		35	102	0	0	0	1	0	35	102				
CARF	79800	broad.mit.edu	37	2	203807580	203807580	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:203807580C>T	ENST00000402905.3	+	4	517	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	CARF_ENST00000438828.2_Missense_Mutation_p.P66S|CARF_ENST00000456821.2_Missense_Mutation_p.P54S|CARF_ENST00000471271.1_3'UTR|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.P66S|CARF_ENST00000320443.8_Missense_Mutation_p.P66S|CARF_ENST00000428585.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000545262.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	66					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TATACCAGGGCCCCTGACTCA	0.438																																						ENST00000320443.8																			0											c.(196-198)Ccc>Tcc		calcium responsive transcription factor							94.0	91.0	92.0					2																	203807580		1884	4110	5994	SO:0001583	missense	79800							g.chr2:203807580C>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.196C>T	2.37:g.203807580C>T	ENSP00000384006:p.Pro66Ser					WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000444724.1_Missense_Mutation_p.P66S|CARF_ENST00000456821.2_Missense_Mutation_p.P54S|CARF_ENST00000545253.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.P66S|CARF_ENST00000545262.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.P66S|CARF_ENST00000434998.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000414439.1_Intron	p.P66S							4	1239	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.196C>T	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	C	6.311	0.425412	0.11987	.	.	ENSG00000138380	ENST00000402905;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000445120;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000456821;ENST00000320443;ENST00000438828	.	.	.	5.37	-4.0	0.04057	.	0.928883	0.09138	N	0.843409	T	0.23727	0.0574	L	0.44542	1.39	0.09310	N	1	B;B;B	0.19200	0.002;0.034;0.001	B;B;B	0.18561	0.002;0.022;0.002	T	0.35051	-0.9804	9	0.11485	T	0.65	0.9545	0.5492	0.00659	0.3427:0.2384:0.2134:0.2055	.	66;66;66	B4DRP6;Q8N187;F6SXV3	.;AL2S8_HUMAN;.	S	66;36;66;66;36;66;66;66;54;66;66	.	ENSP00000316224:P66S	P	+	1	0	ALS2CR8	203515825	0.000000	0.05858	0.008000	0.14137	0.072000	0.16883	-0.694000	0.05115	-1.408000	0.02040	-0.261000	0.10672	CCC		0.438	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		46	50	0	0	0	1	0	46	50				
DNAH1	25981	broad.mit.edu	37	3	52394003	52394003	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:52394003C>T	ENST00000420323.2	+	27	4740	c.4479C>T	c.(4477-4479)atC>atT	p.I1493I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1493	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCGCTAATCGTCATTGAGG	0.567																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4477-4479)atC>atT		dynein, axonemal, heavy chain 1							166.0	173.0	170.0					3																	52394003		2160	4266	6426	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52394003C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4479C>T	3.37:g.52394003C>T							p.I1493I	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4740	+			1493			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.4479C>T	CCDS46842.1																																																																																				0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		64	156	0	0	0	1	0	64	156				
RALGAPA1	253959	broad.mit.edu	37	14	36143916	36143916	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:36143916C>T	ENST00000389698.3	-	22	3497		c.e22-1		RALGAPA1_ENST00000258840.6_Splice_Site|RALGAPA1_ENST00000307138.6_Splice_Site|RALGAPA1_ENST00000382366.3_Splice_Site	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACTAATTTCTATAGAAAAA	0.363																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.e23-1		Ral GTPase activating protein, alpha subunit 1 (catalytic)							22.0	20.0	21.0					14																	36143916		2202	4299	6501	SO:0001630	splice_region_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36143916C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3107-1G>A	14.37:g.36143916C>T						RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000389698.3_Splice_Site|RALGAPA1_ENST00000307138.6_Splice_Site				Q6GYQ0	RGPA1_HUMAN			23	3638	-								A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Splice_Site	SNP	ENST00000389698.3	37		CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001502	0.74818	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0012	0.92834	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RALGAPA1	35213667	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	7.814000	0.86154	2.466000	0.83321	0.591000	0.81541	.		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	Intron	7	24	0	0	0	1	0	7	24				
LIG4	3981	broad.mit.edu	37	13	108861753	108861753	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:108861753C>T	ENST00000356922.4	-	2	2136	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	LIG4_ENST00000442234.1_Missense_Mutation_p.E622K|LIG4_ENST00000405925.1_Missense_Mutation_p.E622K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	622					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTTGTGGTTCATCATCACCA	0.423								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1864-1866)Gaa>Aaa	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							77.0	77.0	77.0					13																	108861753		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861753C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1864G>A	13.37:g.108861753C>T	ENSP00000349393:p.Glu622Lys					LIG4_ENST00000405925.1_Missense_Mutation_p.E622K|LIG4_ENST00000442234.1_Missense_Mutation_p.E622K	p.E622K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2136	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		622					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1864G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	3.253	-0.152797	0.06585	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.11604	2.76;2.76;2.76	5.74	4.0	0.46444	BRCT (1);	0.611807	0.17742	N	0.163521	T	0.12518	0.0304	M	0.68317	2.08	0.43230	D	0.995125	B	0.20368	0.044	B	0.17098	0.017	T	0.04678	-1.0934	10	0.13470	T	0.59	.	10.8562	0.46800	0.0:0.7986:0.1308:0.0706	.	622	P49917	DNLI4_HUMAN	K	622	ENSP00000385955:E622K;ENSP00000402030:E622K;ENSP00000349393:E622K	ENSP00000349393:E622K	E	-	1	0	LIG4	107659754	0.803000	0.28956	0.007000	0.13788	0.000000	0.00434	2.901000	0.48695	0.758000	0.33059	-0.323000	0.08544	GAA		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		35	102	0	0	0	1	0	35	102				
TFAP2A	7020	broad.mit.edu	37	6	10402728	10402728	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:10402728C>G	ENST00000482890.1	-	6	1232	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E288Q|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E294Q|TFAP2A_ENST00000379613.3_Missense_Mutation_p.E296Q|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E290Q			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	294	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGCTTACCCTCTACTAGTGAT	0.418																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(886-888)Gag>Cag		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							159.0	136.0	144.0					6																	10402728		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10402728C>G	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.880G>C	6.37:g.10402728C>G	ENSP00000418541:p.Glu294Gln					TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000482890.1_Missense_Mutation_p.E294Q|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E290Q|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E288Q|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E294Q	p.E296Q			P05549	AP2A_HUMAN			5	1142	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	294			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.886G>C	CCDS4510.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.2|27.2|27.2	4.812893|4.812893|4.812893	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000137203|ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000461628|ENST00000475264	D;D;D;D;D;D|.|.	0.98901|.|.	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22|.|.	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	Transcription factor AP-2, C-terminal (2);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|.	0.86016|0.86016|.	0.5832|0.5832|.	M|M|M	0.94063|0.94063|0.94063	3.49|3.49|3.49	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.76494|.|.	0.997;0.996;0.997;0.999;0.999|.|.	D;D;D;D;D|.|.	0.83275|.|.	0.992;0.996;0.992;0.996;0.988|.|.	D|D|.	0.88713|0.88713|.	0.3224|0.3224|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	20.0474|20.0474|20.0474	0.97616|0.97616|0.97616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	294;296;290;294;288|.|.	C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.|.	.;.;.;AP2A_HUMAN;.|.|.	Q|T|Y	296;294;290;288;294;294|68|198	ENSP00000368933:E296Q;ENSP00000368924:E294Q;ENSP00000316516:E290Q;ENSP00000368928:E288Q;ENSP00000418541:E294Q;ENSP00000417495:E294Q|.|.	ENSP00000316516:E290Q|.|.	E|R|X	-|-|-	1|2|3	0|0|2	TFAP2A|TFAP2A|TFAP2A	10510714|10510714|10510714	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	7.814000|7.814000|7.814000	0.86154|0.86154|0.86154	2.722000|2.722000|2.722000	0.93159|0.93159|0.93159	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|AGA|TAG		0.418	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		31	63	0	0	0	1	0	31	63				
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)Cgc>Tgc		hyaluronan binding protein 4							101.0	114.0	109.0					9																	99227683		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227683C>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys					HABP4_ENST00000375251.3_Intron	p.R193C	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			3	652	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.577C>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		5	163	0	0	0	1	0	5	163				
BRCA2	675	broad.mit.edu	37	13	32937584	32937584	+	Nonsense_Mutation	SNP	C	C	T	rs80359703|rs80359702|rs80359701		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:32937584C>T	ENST00000380152.3	+	18	8478	c.8245C>T	c.(8245-8247)Cag>Tag	p.Q2749*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q2749*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2749					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACAGTTGGTCAGAAGATTAT	0.443			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8245-8247)Cag>Tag	Homologous recombination	breast cancer 2, early onset							101.0	98.0	99.0					13																	32937584		2203	4300	6503	SO:0001587	stop_gained	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937584C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8245C>T	13.37:g.32937584C>T	ENSP00000369497:p.Gln2749*	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2749*	p.Q2749*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8472	+		Lung SC(185;0.0262)	2749					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.8245C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	50	17.247296	0.99882	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.42	5.42	0.78866	.	0.248944	0.42682	D	0.000665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2084	0.93744	0.0:1.0:0.0:0.0	.	.	.	.	X	2749	.	ENSP00000369497:Q2749X	Q	+	1	0	BRCA2	31835584	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	4.107000	0.57811	2.543000	0.85770	0.313000	0.20887	CAG		0.443	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		37	63	0	0	0	1	0	37	63				
FCN3	8547	broad.mit.edu	37	1	27700854	27700854	+	Silent	SNP	A	A	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:27700854A>C	ENST00000270879.4	-	2	185	c.180T>G	c.(178-180)ggT>ggG	p.G60G	FCN3_ENST00000354982.2_Silent_p.G60G	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	60	Collagen-like.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTGAGGACCTGGGGCTC	0.602																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(178-180)ggT>ggG		ficolin (collagen/fibrinogen domain containing) 3							30.0	33.0	32.0					1																	27700854		2202	4300	6502	SO:0001819	synonymous_variant	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27700854A>C	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.180T>G	1.37:g.27700854A>C						FCN3_ENST00000354982.2_Silent_p.G60G	p.G60G	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	185	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	60			Collagen-like.		Q6IBJ5|Q8WW86	Silent	SNP	ENST00000270879.4	37	c.180T>G	CCDS300.1																																																																																				0.602	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			19	36	0	0	0	1	0	19	36				
ROS1	6098	broad.mit.edu	37	6	117647566	117647566	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:117647566G>C	ENST00000368508.3	-	33	5576	c.5378C>G	c.(5377-5379)tCa>tGa	p.S1793*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.S1787*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1793	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TAAATTATTTGAAGTGCTCTT	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5377-5379)tCa>tGa		c-ros oncogene 1 , receptor tyrosine kinase							51.0	50.0	51.0					6																	117647566		2202	4297	6499	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117647566G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5378C>G	6.37:g.117647566G>C	ENSP00000357494:p.Ser1793*					ROS1_ENST00000368507.3_Nonsense_Mutation_p.S1787*|GOPC_ENST00000467125.1_Intron	p.S1793*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	33	5576	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1793			Fibronectin type-III 9.		Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.5378C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	42	9.572587	0.99208	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	4.67	3.73	0.42828	.	1.051700	0.07527	N	0.911507	.	.	.	.	.	.	0.27411	N	0.954569	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.5299	0.61615	0.0:0.2109:0.7891:0.0	.	.	.	.	X	1793;1787	.	ENSP00000357493:S1787X	S	-	2	0	ROS1	117754259	1.000000	0.71417	0.907000	0.35723	0.055000	0.15305	2.217000	0.42880	2.586000	0.87340	0.650000	0.86243	TCA		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			9	30	0	0	0	1	0	9	30				
C16orf46	123775	broad.mit.edu	37	16	81094975	81094975	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:81094975G>C	ENST00000299578.5	-	4	1214	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Missense_Mutation_p.L327V	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	327						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGTTTCTGCAGAAGCTGCAAG	0.552																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(979-981)Ctg>Gtg		chromosome 16 open reading frame 46							106.0	103.0	104.0					16																	81094975		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81094975G>C	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.979C>G	16.37:g.81094975G>C	ENSP00000299578:p.Leu327Val					C16orf46_ENST00000299578.5_Missense_Mutation_p.L327V|RP11-303E16.8_ENST00000564536.1_RNA	p.L327V	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	1094	-			327					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.979C>G	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938143	0.34189	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.25085	1.82;1.82	5.23	-4.73	0.03259	.	0.326309	0.22106	N	0.064554	T	0.14270	0.0345	L	0.52573	1.65	0.27539	N	0.95085	P;P	0.40731	0.728;0.728	B;B	0.33799	0.17;0.17	T	0.10359	-1.0633	10	0.56958	D	0.05	.	4.8021	0.13301	0.2109:0.1331:0.5256:0.1304	.	327;327	Q6P387-2;Q6P387	.;CP046_HUMAN	V	327;54;327	ENSP00000367874:L327V;ENSP00000299578:L327V	ENSP00000299578:L327V	L	-	1	2	C16orf46	79652476	0.702000	0.27816	0.928000	0.36995	0.028000	0.11728	-0.673000	0.05239	-0.480000	0.06803	-0.253000	0.11424	CTG		0.552	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		34	85	0	0	0	1	0	34	85				
F9	2158	broad.mit.edu	37	X	138623273	138623273	+	Missense_Mutation	SNP	G	G	A	rs137852233	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:138623273G>A	ENST00000218099.2	+	4	323	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	106	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		G -> D (in HEMB). {ECO:0000269|PubMed:12588353}.|G -> S (in HEMB; mild; Durham). {ECO:0000269|PubMed:2472424, ECO:0000269|PubMed:9600455}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TTTAAATGGCGGCAGTTGCAA	0.398																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940466|CM940467|CM960576	F9	M	rs137852233	c.(316-318)Ggc>Agc		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	G	SER/GLY	0,3835		0,0,0,1632,571	215.0	173.0	187.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	316	5.8	0.1	X	dbSNP_133	187	1,6727		0,0,1,2428,1871	no	missense	F9	NM_000133.3	56	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	106/462	138623273	1,10562	2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138623273G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.316G>A	X.37:g.138623273G>A	ENSP00000218099:p.Gly106Ser					F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Intron	p.G106S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			4	323	+	Acute lymphoblastic leukemia(192;0.000127)		106		G -> D (in HEMB).|G -> S (in HEMB; mild; Durham).	EGF-like 1; calcium-binding (Potential).		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.316G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761873	0.89932	0.0	1.49E-4	ENSG00000101981	ENST00000218099	D	0.97404	-4.37	5.81	5.81	0.92471	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.048747	0.85682	D	0.000000	D	0.98385	0.9463	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99478	1.0947	10	0.87932	D	0	.	16.2666	0.82588	0.0:0.0:1.0:0.0	.	106	P00740	FA9_HUMAN	S	106	ENSP00000218099:G106S	ENSP00000218099:G106S	G	+	1	0	F9	138450939	1.000000	0.71417	0.118000	0.21660	0.873000	0.50193	8.575000	0.90766	2.445000	0.82738	0.594000	0.82650	GGC		0.398	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			24	19	0	0	0	1	0	24	19				
LCT	3938	broad.mit.edu	37	2	136566641	136566641	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:136566641C>T	ENST00000264162.2	-	8	3286	c.3276G>A	c.(3274-3276)agG>agA	p.R1092R	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1092	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CGTGGGCTATCCTATATGGTG	0.537																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3274-3276)agG>agA		lactase							46.0	50.0	49.0					2																	136566641		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566641C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3276G>A	2.37:g.136566641C>T							p.R1092R	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3286	-			1092			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.3276G>A	CCDS2178.1																																																																																				0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		25	45	0	0	0	1	0	25	45				
IRF7	3665	broad.mit.edu	37	11	614918	614918	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:614918C>G	ENST00000397574.2	-	4	642	c.273G>C	c.(271-273)tgG>tgC	p.W91C	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Missense_Mutation_p.W91C|IRF7_ENST00000397566.1_Missense_Mutation_p.W104C|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.W91C|IRF7_ENST00000330243.5_Missense_Mutation_p.W104C	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	91					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTGGTTTTCCAGCCGGCGC	0.716																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(310-312)tgG>tgC		interferon regulatory factor 7							9.0	12.0	11.0					11																	614918		2149	4229	6378	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:614918C>G	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.273G>C	11.37:g.614918C>G	ENSP00000380704:p.Trp91Cys					IRF7_ENST00000330243.5_Missense_Mutation_p.W104C|IRF7_ENST00000348655.6_Missense_Mutation_p.W91C|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.W91C|IRF7_ENST00000397574.2_Missense_Mutation_p.W91C	p.W104C	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	721	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	91					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.312G>C	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675295	0.88445	.	.	ENSG00000185507	ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84	4.71	4.71	0.59529	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99113	1.0847	10	0.87932	D	0	-17.5639	15.1916	0.73049	0.0:1.0:0.0:0.0	.	91;91;104	Q92985-2;Q92985;Q92985-4	.;IRF7_HUMAN;.	C	91;91;104;91;104	ENSP00000331803:W91C;ENSP00000380700:W91C;ENSP00000380697:W104C;ENSP00000380704:W91C;ENSP00000329411:W104C	ENSP00000329411:W104C	W	-	3	0	IRF7	604918	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.112000	0.71547	2.333000	0.79357	0.462000	0.41574	TGG		0.716	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		3	10	0	0	0	1	0	3	10				
CSTB	1476	broad.mit.edu	37	21	45194163	45194163	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45194163G>C	ENST00000291568.5	-	3	392	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	73					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCATGAGGGAGAGATTGGAAC	0.527																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			0				lung(1)|prostate(1)	2						c.(217-219)Ctc>Gtc		cystatin B (stefin B)							246.0	213.0	224.0					21																	45194163		2203	4300	6503	SO:0001583	missense	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194163G>C	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.217C>G	21.37:g.45194163G>C	ENSP00000291568:p.Leu73Val						p.L73V	NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	3	392	-			73						Missense_Mutation	SNP	ENST00000291568.5	37	c.217C>G	CCDS13701.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077392	0.55753	.	.	ENSG00000160213	ENST00000291568	T	0.27557	1.66	5.46	5.46	0.80206	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	.	.	.	0.58432	D	0.999992	D	0.89917	1.0	D	0.79784	0.993	T	0.60510	-0.7249	9	0.72032	D	0.01	-13.0418	14.8177	0.70048	0.0:0.0:1.0:0.0	.	73	P04080	CYTB_HUMAN	V	73	ENSP00000291568:L73V	ENSP00000291568:L73V	L	-	1	0	CSTB	44018591	1.000000	0.71417	0.335000	0.25508	0.190000	0.23558	5.072000	0.64389	2.565000	0.86533	0.561000	0.74099	CTC		0.527	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		32	79	0	0	0	1	0	32	79				
SNAPC1	6617	broad.mit.edu	37	14	62229286	62229286	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:62229286G>A	ENST00000216294.4	+	1	212	c.108G>A	c.(106-108)atG>atA	p.M36I	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	36	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GGAGAAACATGAAGTTCGGGA	0.602																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(106-108)atG>atA		small nuclear RNA activating complex, polypeptide 1, 43kDa							155.0	140.0	145.0					14																	62229286		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62229286G>A	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.108G>A	14.37:g.62229286G>A	ENSP00000216294:p.Met36Ile					RP11-618G20.1_ENST00000555937.1_RNA	p.M36I	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	1	212	+			36			SNAPC3-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.108G>A	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310732	0.81358	.	.	ENSG00000023608	ENST00000216294	.	.	.	6.17	5.23	0.72850	.	0.090178	0.85682	D	0.000000	T	0.54822	0.1882	M	0.63843	1.955	0.43061	D	0.994682	P	0.45176	0.852	B	0.39217	0.294	T	0.56920	-0.7899	9	0.33940	T	0.23	-2.5719	16.2327	0.82356	0.0:0.2036:0.7964:0.0	.	36	Q16533	SNPC1_HUMAN	I	36	.	ENSP00000216294:M36I	M	+	3	0	SNAPC1	61299039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.329000	0.65892	2.941000	0.99782	0.655000	0.94253	ATG		0.602	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		52	113	0	0	0	1	0	52	113				
MYO16	23026	broad.mit.edu	37	13	109318415	109318415	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:109318415G>A	ENST00000357550.2	+	1	185	c.144G>A	c.(142-144)ctG>ctA	p.L48L	MYO16_ENST00000251041.5_Silent_p.L48L|MYO16_ENST00000356711.2_Silent_p.L48L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAAAAGGCTGAAGCATGCGA	0.478																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(142-144)ctG>ctA		myosin XVI							80.0	71.0	74.0					13																	109318415		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109318415G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.144G>A	13.37:g.109318415G>A						MYO16_ENST00000357550.2_Silent_p.L48L|MYO16_ENST00000251041.5_Silent_p.L48L	p.L48L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		2	270	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		48						Silent	SNP	ENST00000357550.2	37	c.144G>A	CCDS32008.1																																																																																				0.478	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		21	34	0	0	0	1	0	21	34				
CREBBP	1387	broad.mit.edu	37	16	3828790	3828790	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:3828790G>T	ENST00000262367.5	-	9	2661	c.1852C>A	c.(1852-1854)Ccc>Acc	p.P618T	CREBBP_ENST00000382070.3_Missense_Mutation_p.P580T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	618	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGCTGCGGGATCAGGTGTT	0.458			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1852-1854)Ccc>Acc		CREB binding protein							171.0	155.0	160.0					16																	3828790		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828790G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1852C>A	16.37:g.3828790G>T	ENSP00000262367:p.Pro618Thr					CREBBP_ENST00000382070.3_Missense_Mutation_p.P580T	p.P618T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	9	2661	-		Ovarian(90;0.0266)	618			KIX.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1852C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952398	0.73787	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87029	-2.2;-2.1	5.11	5.11	0.69529	Coactivator CBP, KIX (4);	0.000000	0.64402	D	0.000001	D	0.94225	0.8146	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94483	0.7695	10	0.56958	D	0.05	-10.0578	18.8874	0.92385	0.0:0.0:1.0:0.0	.	648;618	Q4LE28;Q92793	.;CBP_HUMAN	T	618;648;580	ENSP00000262367:P618T;ENSP00000371502:P580T	ENSP00000262367:P618T	P	-	1	0	CREBBP	3768791	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.727000	0.98787	2.528000	0.85240	0.563000	0.77884	CCC		0.458	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		65	146	1	0	3.58576e-35	1	3.8386e-35	65	146				
AKAP6	9472	broad.mit.edu	37	14	33147646	33147646	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:33147646C>G	ENST00000280979.4	+	8	3030	c.2860C>G	c.(2860-2862)Cat>Gat	p.H954D	AKAP6_ENST00000557272.1_Missense_Mutation_p.H954D|AKAP6_ENST00000557354.1_Missense_Mutation_p.H954D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	954					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAAAAGTTCATTCAGTGGG	0.408																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(2860-2862)Cat>Gat		A kinase (PRKA) anchor protein 6							192.0	181.0	185.0					14																	33147646		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33147646C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2860C>G	14.37:g.33147646C>G	ENSP00000280979:p.His954Asp					AKAP6_ENST00000557272.1_Missense_Mutation_p.H954D|AKAP6_ENST00000557354.1_Missense_Mutation_p.H954D	p.H954D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	8	3030	+	Breast(36;0.0388)|Prostate(35;0.15)		954					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2860C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279973	0.59758	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.18810	3.45;2.19;2.2	5.0	5.0	0.66597	.	0.148797	0.47852	D	0.000210	T	0.27933	0.0688	N	0.08118	0	0.43593	D	0.995944	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.37430	-0.9706	10	0.66056	D	0.02	-10.9357	16.8325	0.85948	0.0:1.0:0.0:0.0	.	954;954	A7E242;Q13023	.;AKAP6_HUMAN	D	954	ENSP00000280979:H954D;ENSP00000450531:H954D;ENSP00000451247:H954D	ENSP00000280979:H954D	H	+	1	0	AKAP6	32217397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.402000	0.52608	2.480000	0.83734	0.585000	0.79938	CAT		0.408	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		30	86	0	0	0	1	0	30	86				
GNB3	2784	broad.mit.edu	37	12	6952860	6952860	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:6952860G>A	ENST00000229264.3	+	8	900	c.495G>A	c.(493-495)acG>acA	p.T165T	GNB3_ENST00000435982.2_Splice_Site|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	165					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGGACACCACGTGGTGAGGCT	0.577																																						ENST00000435982.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.e7+1		guanine nucleotide binding protein (G protein), beta polypeptide 3							107.0	108.0	107.0					12																	6952860		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952860G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.495G>A	12.37:g.6952860G>A						GNB3_ENST00000229264.3_Silent_p.T165T				P16520	GBB3_HUMAN			7	584	+								Q96B71|Q9BQC0	Splice_Site	SNP	ENST00000229264.3	37		CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	6.908	0.537025	0.13188	.	.	ENSG00000111664	ENST00000541257;ENST00000435982	.	.	.	5.57	-3.3	0.05003	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.834	0.03136	0.4456:0.0972:0.2487:0.2086	.	.	.	.	.	-1	.	.	.	+	.	.	GNB3	6823121	0.000000	0.05858	0.993000	0.49108	0.143000	0.21401	-1.955000	0.01523	-0.256000	0.09473	-0.367000	0.07326	.		0.577	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		33	79	0	0	0	1	0	33	79				
MUC16	94025	broad.mit.edu	37	19	9076986	9076986	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9076986G>A	ENST00000397910.4	-	3	10663	c.10460C>T	c.(10459-10461)tCt>tTt	p.S3487F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3488	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGTGACAGATGACGCAGA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10459-10461)tCt>tTt		mucin 16, cell surface associated							118.0	114.0	115.0					19																	9076986		2086	4216	6302	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076986G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10460C>T	19.37:g.9076986G>A	ENSP00000381008:p.Ser3487Phe						p.S3487F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	10663	-			3488			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10460C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.077	-0.189928	0.06299	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.85	-0.422	0.12329	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.64877	0.93	T	0.45071	-0.9286	8	0.87932	D	0	.	4.2895	0.10870	0.3792:0.0:0.6208:0.0	.	3487	B5ME49	.	F	3487	ENSP00000381008:S3487F	ENSP00000381008:S3487F	S	-	2	0	MUC16	8937986	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	0.240000	0.18042	-0.043000	0.13513	0.313000	0.20887	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	55	0	0	0	1	0	27	55				
CLEC2D	29121	broad.mit.edu	37	12	9845688	9845688	+	Intron	SNP	C	C	T	rs377194446		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:9845688C>T	ENST00000290855.6	+	4	483				CLEC2D_ENST00000261340.7_Nonsense_Mutation_p.R174*|CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000261339.6_Intron	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D						cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R174*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						ACAAGTTCCTCGAATGAATCC	0.373																																						ENST00000261340.7																			1	Substitution - Nonsense(1)	p.R174*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						c.(520-522)Cga>Tga		C-type lectin domain family 2, member D		C	stop/ARG,,,,	1,4405	2.1+/-5.4	0,1,2202	130.0	130.0	130.0		520,,,,	-1.8	0.0	12		130	0,8600		0,0,4300	no	stop-gained,intron,intron,intron,intron	CLEC2D	NM_001004419.3,NM_001197317.1,NM_001197318.1,NM_001197319.1,NM_013269.4	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	174/195,,,,	9845688	1,13005	2203	4300	6503	SO:0001627	intron_variant	29121				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	g.chr12:9845688C>T	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.461+161C>T	12.37:g.9845688C>T						CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000261339.6_Intron|CLEC2D_ENST00000290855.6_Intron|CLEC2D_ENST00000545918.1_Intron	p.R174*	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN			5	542	+			0			C-type lectin.		D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Nonsense_Mutation	SNP	ENST00000290855.6	37	c.520C>T	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	C	6.011	0.370365	0.11352	2.27E-4	0.0	ENSG00000069493	ENST00000261340;ENST00000466035;ENST00000430909	.	.	.	0.968	-1.78	0.07957	.	1.014940	0.07966	U	0.983123	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8244	0.13408	0.0:0.6239:0.0:0.3761	.	.	.	.	X	174;131;153	.	.	R	+	1	2	CLEC2D	9736955	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.804000	0.04535	-0.672000	0.05266	0.405000	0.27470	CGA		0.373	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		34	98	0	0	0	1	0	34	98				
ZNF611	81856	broad.mit.edu	37	19	53209989	53209989	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:53209989C>G	ENST00000319783.1	-	7	635	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000602162.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E107Q|ZNF611_ENST00000453741.2_Missense_Mutation_p.E38Q|ZNF611_ENST00000543227.1_Missense_Mutation_p.E107Q	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ATTTCTTTCTCAATTTCCTGG	0.398																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(319-321)Gag>Cag		zinc finger protein 611							176.0	179.0	178.0					19																	53209989		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209989C>G	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.319G>C	19.37:g.53209989C>G	ENSP00000322427:p.Glu107Gln					ZNF611_ENST00000453741.2_Missense_Mutation_p.E38Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000319783.1_Missense_Mutation_p.E107Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E107Q	p.E107Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	593	-			107					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.319G>C	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.529883	0.00147	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.07908	3.2;3.2;3.15;3.2	0.948	-0.468	0.12146	.	.	.	.	.	T	0.03564	0.0102	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.18561	0.022	T	0.45041	-0.9288	9	0.05436	T	0.98	.	2.6482	0.04991	0.2475:0.3426:0.4099:0.0	.	107	Q8N823	ZN611_HUMAN	Q	107;107;38;107	ENSP00000437616:E107Q;ENSP00000439211:E107Q;ENSP00000443505:E38Q;ENSP00000322427:E107Q	ENSP00000322427:E107Q	E	-	1	0	ZNF611	57901801	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.205000	0.03014	-0.053000	0.13289	0.298000	0.19748	GAG		0.398	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		10	357	0	0	0	1	0	10	357				
CHML	1122	broad.mit.edu	37	1	241797269	241797269	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:241797269G>A	ENST00000366553.1	-	1	1963	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	600					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CAGTTGGAAAGATCTCCTGGA	0.463																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1798-1800)atC>atT		choroideremia-like (Rab escort protein 2)							122.0	120.0	121.0					1																	241797269		2203	4299	6502	SO:0001819	synonymous_variant	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797269G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1800C>T	1.37:g.241797269G>A						OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	p.I600I	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1963	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	600					B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	c.1800C>T	CCDS31073.1																																																																																				0.463	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		55	104	0	0	0	1	0	55	104				
ERCC2	2068	broad.mit.edu	37	19	45860569	45860569	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:45860569T>C	ENST00000391945.4	-	15	1515	c.1438A>G	c.(1438-1440)Acc>Gcc	p.T480A	ERCC2_ENST00000391944.3_Missense_Mutation_p.T402A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	480	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGGTGAAGGTTGCCATGGTG	0.662			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1438-1440)Acc>Gcc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							104.0	87.0	93.0					19																	45860569		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45860569T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1438A>G	19.37:g.45860569T>C	ENSP00000375809:p.Thr480Ala					ERCC2_ENST00000391944.3_Missense_Mutation_p.T402A	p.T480A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	15	1515	-		Ovarian(192;0.0728)|all_neural(266;0.112)	480			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1438A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.829498	0.50845	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82619	-1.41;-1.63	5.27	5.27	0.74061	.	0.169915	0.53938	D	0.000056	T	0.75042	0.3796	L	0.33485	1.01	0.80722	D	1	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.14023	0.002;0.001;0.01	T	0.71978	-0.4429	10	0.56958	D	0.05	-47.8788	11.5741	0.50852	0.0:0.0:0.0:1.0	.	402;480;173	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	A	430;456;480;402	ENSP00000375809:T480A;ENSP00000375808:T402A	ENSP00000375805:T430A	T	-	1	0	ERCC2	50552409	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.220000	0.65267	1.991000	0.58162	0.533000	0.62120	ACC		0.662	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		12	28	0	0	0	1	0	12	28				
FBXO7	25793	broad.mit.edu	37	22	32889106	32889106	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:32889106G>A	ENST00000266087.7	+	7	1309	c.982G>A	c.(982-984)Gat>Aat	p.D328N	FBXO7_ENST00000382058.3_Missense_Mutation_p.D249N|FBXO7_ENST00000397426.1_Missense_Mutation_p.D214N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	328				D -> N (in Ref. 7; AAF04471). {ECO:0000305}.	cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAACCTACCAGATGTATTTGG	0.433																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(982-984)Gat>Aat		F-box protein 7							315.0	268.0	284.0					22																	32889106		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889106G>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.982G>A	22.37:g.32889106G>A	ENSP00000266087:p.Asp328Asn					FBXO7_ENST00000397426.1_Missense_Mutation_p.D214N|FBXO7_ENST00000382058.3_Missense_Mutation_p.D249N	p.D328N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			7	1309	+			328	D -> N (in Ref. 7; AAF04471).				B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.982G>A	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879839	0.91740	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.54866	0.55;0.55;0.55	6.08	6.08	0.98989	F-box domain, Skp2-like (1);	0.279266	0.39909	N	0.001232	T	0.65460	0.2693	L	0.43152	1.355	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.68621	0.959;0.931;0.959	T	0.54036	-0.8353	10	0.17832	T	0.49	-25.1782	20.6634	0.99662	0.0:0.0:1.0:0.0	.	328;249;328	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	N	328;249;214	ENSP00000266087:D328N;ENSP00000371490:D249N;ENSP00000380571:D214N	ENSP00000266087:D328N	D	+	1	0	FBXO7	31219106	1.000000	0.71417	0.999000	0.59377	0.784000	0.44337	7.521000	0.81832	2.894000	0.99253	0.655000	0.94253	GAT		0.433	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			77	207	0	0	0	1	0	77	207				
GPR171	29909	broad.mit.edu	37	3	150916981	150916981	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:150916981G>T	ENST00000309180.5	-	3	423	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	65					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTAATGCCAGAGTAAGCAGG	0.408																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(193-195)Ctg>Atg		G protein-coupled receptor 171							88.0	85.0	86.0					3																	150916981		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916981G>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.193C>A	3.37:g.150916981G>T	ENSP00000308479:p.Leu65Met					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.L65M	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	423	-			65					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.193C>A	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579520	0.46006	.	.	ENSG00000174946	ENST00000309180	T	0.46063	0.88	5.27	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.220923	0.29846	N	0.011043	T	0.58793	0.2147	M	0.61703	1.905	0.30676	N	0.752899	D	0.89917	1.0	D	0.79784	0.993	T	0.60596	-0.7232	10	0.56958	D	0.05	-6.6012	11.6996	0.51562	0.1399:0.0:0.8601:0.0	.	65	O14626	GP171_HUMAN	M	65	ENSP00000308479:L65M	ENSP00000308479:L65M	L	-	1	2	GPR171	152399671	0.853000	0.29707	0.998000	0.56505	0.562000	0.35680	1.179000	0.31993	2.465000	0.83290	0.655000	0.94253	CTG		0.408	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		29	89	1	0	3.65163e-15	1	3.82733e-15	29	89				
NLRC5	84166	broad.mit.edu	37	16	57075484	57075484	+	Silent	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:57075484C>A	ENST00000262510.6	+	18	3252	c.3027C>A	c.(3025-3027)ctC>ctA	p.L1009L	NLRC5_ENST00000539144.1_Silent_p.L1009L|NLRC5_ENST00000436936.1_Silent_p.L1009L|NLRC5_ENST00000308149.7_Silent_p.L1009L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1009					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTCCACCTCGAGTGAGTGG	0.522																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3025-3027)ctC>ctA		NLR family, CARD domain containing 5							71.0	68.0	69.0					16																	57075484		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57075484C>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3027C>A	16.37:g.57075484C>A						NLRC5_ENST00000262510.6_Silent_p.L1009L|NLRC5_ENST00000539144.1_Silent_p.L1009L|NLRC5_ENST00000308149.7_Silent_p.L1009L	p.L1009L			Q86WI3	NLRC5_HUMAN			18	3252	+		all_neural(199;0.225)	1009					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3027C>A	CCDS10773.1																																																																																				0.522	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		25	55	1	0	4.59853e-10	1	4.74046e-10	25	55				
HACL1	26061	broad.mit.edu	37	3	15637922	15637922	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:15637922C>T	ENST00000321169.5	-	3	563	c.196G>A	c.(196-198)Gct>Act	p.A66T	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.A66T|HACL1_ENST00000457447.2_Missense_Mutation_p.A66T|HACL1_ENST00000451445.2_Missense_Mutation_p.A66T	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	66					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCGGAGGCAGCATAACAAGCC	0.358																																						ENST00000321169.5																			0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.(196-198)Gct>Act		2-hydroxyacyl-CoA lyase 1							77.0	67.0	70.0					3																	15637922		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15637922C>T	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.196G>A	3.37:g.15637922C>T	ENSP00000323811:p.Ala66Thr					HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.A66T|HACL1_ENST00000457447.2_Missense_Mutation_p.A66T|HACL1_ENST00000456194.2_Missense_Mutation_p.A66T	p.A66T	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN			3	563	-			66					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.196G>A	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027117	0.93518	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447;ENST00000421993	T;T;T;T	0.55234	0.89;1.09;1.13;0.53	5.71	5.71	0.89125	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	H	0.99117	4.435	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;1.0;0.999	D;D;D;D	0.78314	0.983;0.991;0.99;0.981	D	0.90198	0.4255	10	0.52906	T	0.07	.	18.6951	0.91598	0.0:1.0:0.0:0.0	.	66;66;66;66	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	T	66	ENSP00000323811:A66T;ENSP00000403656:A66T;ENSP00000390699:A66T;ENSP00000404883:A66T	ENSP00000323811:A66T	A	-	1	0	HACL1	15612926	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.479000	0.73600	2.712000	0.92718	0.650000	0.86243	GCT		0.358	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		4	65	0	0	0	1	0	4	65				
FKBP5	2289	broad.mit.edu	37	6	35565124	35565124	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:35565124G>C	ENST00000539068.1	-	6	768	c.566C>G	c.(565-567)aCt>aGt	p.T189S	FKBP5_ENST00000357266.4_Missense_Mutation_p.T189S|FKBP5_ENST00000540787.1_Missense_Mutation_p.T10S|FKBP5_ENST00000536438.1_Missense_Mutation_p.T189S|FKBP5_ENST00000542713.1_Missense_Mutation_p.T189S	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	189	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TTCGCCCACAGTGAATGCCAC	0.493																																						ENST00000542713.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(565-567)aCt>aGt		FK506 binding protein 5							152.0	133.0	139.0					6																	35565124		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35565124G>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.566C>G	6.37:g.35565124G>C	ENSP00000441205:p.Thr189Ser					FKBP5_ENST00000540787.1_Missense_Mutation_p.T10S|FKBP5_ENST00000539068.1_Missense_Mutation_p.T189S|FKBP5_ENST00000536438.1_Missense_Mutation_p.T189S|FKBP5_ENST00000357266.4_Missense_Mutation_p.T189S	p.T189S	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN			6	723	-			189			PPIase FKBP-type 2.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.566C>G	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266358	0.23136	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.05	2.66	0.31614	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.558217	0.18402	N	0.142336	T	0.62732	0.2452	L	0.41079	1.255	0.09310	N	0.999997	B;B	0.25850	0.136;0.006	B;B	0.27076	0.076;0.016	T	0.51284	-0.8725	10	0.15499	T	0.54	-32.3707	6.9551	0.24565	0.711:0.0:0.289:0.0	.	189;189	F5H7R1;Q13451	.;FKBP5_HUMAN	S	189;189;189;189;10;152;189;187	ENSP00000444810:T189S;ENSP00000349811:T189S;ENSP00000441205:T189S;ENSP00000445412:T10S;ENSP00000442340:T189S	ENSP00000338160:T189S	T	-	2	0	FKBP5	35673102	0.020000	0.18652	0.423000	0.26634	0.967000	0.64934	2.716000	0.47219	0.347000	0.23924	0.561000	0.74099	ACT		0.493	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			78	50	0	0	0	1	0	78	50				
DPP10	57628	broad.mit.edu	37	2	116485415	116485415	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:116485415C>G	ENST00000410059.1	+	8	1080	c.600C>G	c.(598-600)atC>atG	p.I200M	DPP10_ENST00000310323.8_Missense_Mutation_p.I193M|DPP10_ENST00000393147.2_Missense_Mutation_p.I204M|DPP10_ENST00000409163.1_Missense_Mutation_p.I150M|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	200						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAATAATATCTACTATCAAC	0.308																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(598-600)atC>atG		dipeptidyl-peptidase 10 (non-functional)							43.0	47.0	46.0					2																	116485415		2193	4283	6476	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116485415C>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.600C>G	2.37:g.116485415C>G	ENSP00000386565:p.Ile200Met					DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.I204M|DPP10_ENST00000310323.8_Missense_Mutation_p.I193M|DPP10_ENST00000409163.1_Missense_Mutation_p.I150M	p.I200M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			8	1080	+			200					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.600C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624494	0.66901	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.46	3.66	0.41972	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.79805	2.47	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;0.988;1.0;0.999	D;D;D;D	0.91635	0.996;0.979;0.999;0.998	T	0.63699	-0.6578	10	0.87932	D	0	-22.6662	10.4653	0.44604	0.0:0.8446:0.0:0.1554	.	193;204;196;200	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	200;150;196;204;193;150	ENSP00000386565:I200M;ENSP00000387038:I150M;ENSP00000376854:I196M;ENSP00000376855:I204M;ENSP00000309066:I193M	ENSP00000309066:I193M	I	+	3	3	DPP10	116201885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.184000	0.50926	1.317000	0.45149	0.591000	0.81541	ATC		0.308	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		15	23	0	0	0	1	0	15	23				
TNNI3	7137	broad.mit.edu	37	19	55663241	55663241	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:55663241C>G	ENST00000344887.5	-	8	736	c.594G>C	c.(592-594)ctG>ctC	p.L198L	TNNT1_ENST00000588981.1_5'Flank|TNNI3_ENST00000588882.1_Silent_p.L173L|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	198					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCATTCCACTCAGTGCATCGA	0.557																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(592-594)ctG>ctC		troponin I type 3 (cardiac)							137.0	139.0	138.0					19																	55663241		1970	4148	6118	SO:0001819	synonymous_variant	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55663241C>G	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.594G>C	19.37:g.55663241C>G						TNNI3_ENST00000588882.1_Silent_p.L173L	p.L198L	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	736	-			198						Silent	SNP	ENST00000344887.5	37	c.594G>C	CCDS42628.1																																																																																				0.557	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			22	46	0	0	0	1	0	22	46				
KIF20B	9585	broad.mit.edu	37	10	91518641	91518641	+	Splice_Site	SNP	T	T	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:91518641T>G	ENST00000371728.3	+	27	4745		c.e27+2		KIF20B_ENST00000260753.4_Splice_Site|KIF20B_ENST00000478929.1_Splice_Site|KIF20B_ENST00000394289.2_Splice_Site|KIF20B_ENST00000416354.1_Splice_Site	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCTAAAATAGTCAGTAGTCTT	0.279																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.e27+2		kinesin family member 20B							43.0	42.0	42.0					10																	91518641		2200	4299	6499	SO:0001630	splice_region_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91518641T>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4680+2T>G	10.37:g.91518641T>G						KIF20B_ENST00000371728.3_Splice_Site|KIF20B_ENST00000260753.4_Splice_Site|KIF20B_ENST00000478929.1_Splice_Site|KIF20B_ENST00000394289.2_Splice_Site				Q96Q89	KI20B_HUMAN			27	4842	+								A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Splice_Site	SNP	ENST00000371728.3	37			.	.	.	.	.	.	.	.	.	.	T	16.39	3.110516	0.56398	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.54	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6215	0.45483	0.0:0.0759:0.0:0.9241	.	.	.	.	.	-1	.	.	.	+	.	.	KIF20B	91508621	1.000000	0.71417	0.809000	0.32408	0.308000	0.27856	4.266000	0.58871	2.113000	0.64589	0.533000	0.62120	.		0.279	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	Intron	53	89	0	0	0	1	0	53	89				
ABCC5	10057	broad.mit.edu	37	3	183679419	183679419	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:183679419C>T	ENST00000334444.6	-	16	2499	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	ABCC5_ENST00000265586.6_Silent_p.V753V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	753	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCATGAAGATCACTTCATCAC	0.398																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2257-2259)gtG>gtA		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							123.0	120.0	121.0					3																	183679419		1955	4161	6116	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183679419C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2259G>A	3.37:g.183679419C>T						ABCC5_ENST00000265586.6_Silent_p.V753V	p.V753V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2499	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		753			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2259G>A	CCDS43176.1																																																																																				0.398	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		28	65	0	0	0	1	0	28	65				
PASD1	139135	broad.mit.edu	37	X	150844505	150844505	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:150844505G>T	ENST00000370357.4	+	16	2457	c.2212G>T	c.(2212-2214)Gat>Tat	p.D738Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	738						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACCTCCTGATCCACAGGC	0.517																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2212-2214)Gat>Tat		PAS domain containing 1							132.0	119.0	124.0					X																	150844505		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150844505G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2212G>T	X.37:g.150844505G>T	ENSP00000359382:p.Asp738Tyr						p.D738Y	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			16	2457	+	Acute lymphoblastic leukemia(192;6.56e-05)		738					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.2212G>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055898	0.36277	.	.	ENSG00000166049	ENST00000370357	T	0.39592	1.07	3.27	-2.02	0.07388	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	P	0.42620	0.785	B	0.31245	0.126	T	0.12889	-1.0530	9	0.66056	D	0.02	.	3.246	0.06797	0.5482:0.0:0.252:0.1998	.	738	Q8IV76	PASD1_HUMAN	Y	738	ENSP00000359382:D738Y	ENSP00000359382:D738Y	D	+	1	0	PASD1	150595161	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.458000	0.06737	-0.577000	0.05967	0.436000	0.28706	GAT		0.517	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		83	59	1	0	2.25582e-47	1	2.42525e-47	83	59				
CD93	22918	broad.mit.edu	37	20	23066032	23066032	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:23066032G>A	ENST00000246006.4	-	1	945	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	266	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCCATTGTTGAAGTTGCAGC	0.607																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(796-798)ttC>ttT		CD93 molecule							65.0	73.0	70.0					20																	23066032		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066032G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.798C>T	20.37:g.23066032G>A							p.F266F	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	945	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		266			EGF-like 1.		O00274	Silent	SNP	ENST00000246006.4	37	c.798C>T	CCDS13149.1																																																																																				0.607	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		64	125	0	0	0	1	0	64	125				
TCTN1	79600	broad.mit.edu	37	12	111072531	111072531	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:111072531G>A	ENST00000551590.1	+	6	925	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.E79K|AC144522.1_ENST00000408319.1_RNA|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.E257K			Q2MV58	TECT1_HUMAN	tectonic family member 1	257					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AGAACAGTGTGAAGAAATTGA	0.368																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(769-771)Gaa>Aaa		tectonic family member 1							53.0	51.0	52.0					12																	111072531		1806	4071	5877	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111072531G>A	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.769G>A	12.37:g.111072531G>A	ENSP00000448735:p.Glu257Lys					TCTN1_ENST00000397659.4_Missense_Mutation_p.E257K|TCTN1_ENST00000551555.2_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.E79K|TCTN1_ENST00000397655.3_Intron	p.E257K			Q2MV58	TECT1_HUMAN			6	925	+			257					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.769G>A	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302196	0.60195	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000377654;ENST00000548095;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D	0.83075	-1.68;-1.68;-1.68	5.66	2.83	0.33086	Domain of unknown function DUF1619 (1);	0.573893	0.19304	N	0.117564	D	0.84220	0.5424	M	0.62723	1.935	0.21579	N	0.999635	P;P;P;P	0.50369	0.934;0.921;0.934;0.837	P;P;P;P	0.53401	0.725;0.601;0.634;0.597	T	0.74383	-0.3683	10	0.46703	T	0.11	-16.4759	8.6723	0.34159	0.2521:0.0:0.7479:0.0	.	257;257;197;201	Q2MV58;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.	K	197;257;79;257;79;257;201	ENSP00000448735:E257K;ENSP00000366882:E79K;ENSP00000380779:E257K	ENSP00000366882:E79K	E	+	1	0	TCTN1	109556914	0.405000	0.25336	0.910000	0.35882	0.585000	0.36419	0.503000	0.22610	0.871000	0.35750	0.650000	0.86243	GAA		0.368	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		15	63	0	0	0	1	0	15	63				
TNKS1BP1	85456	broad.mit.edu	37	11	57087578	57087578	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:57087578C>G	ENST00000532437.1	-	2	1014	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E235Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	235	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGCTGTGCTCTTCCCGGCAC	0.617																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(703-705)Gag>Cag		tankyrase 1 binding protein 1, 182kDa							84.0	84.0	84.0					11																	57087578		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087578C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.703G>C	11.37:g.57087578C>G	ENSP00000437271:p.Glu235Gln					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E235Q	p.E235Q			Q9C0C2	TB182_HUMAN			2	1014	-		all_epithelial(135;0.21)	235			Acidic.|Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.703G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132994	0.37630	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36157	1.27;1.27	4.47	3.56	0.40772	.	0.236922	0.21610	N	0.071817	T	0.41858	0.1177	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.14117	-1.0484	10	0.54805	T	0.06	-11.831	9.4737	0.38858	0.0:0.8998:0.0:0.1002	.	235	Q9C0C2	TB182_HUMAN	Q	235	ENSP00000350990:E235Q;ENSP00000437271:E235Q	ENSP00000350990:E235Q	E	-	1	0	TNKS1BP1	56844154	0.000000	0.05858	0.323000	0.25347	0.186000	0.23388	0.839000	0.27586	1.075000	0.40932	0.462000	0.41574	GAG		0.617	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		20	82	0	0	0	1	0	20	82				
NDRG1	10397	broad.mit.edu	37	8	134262697	134262697	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:134262697G>C	ENST00000414097.2	-	10	1551	c.684C>G	c.(682-684)atC>atG	p.I228M	NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000521414.1_5'Flank|NDRG1_ENST00000537882.1_Missense_Mutation_p.I147M|NDRG1_ENST00000354944.5_Missense_Mutation_p.I158M|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.I162M|NDRG1_ENST00000323851.7_Missense_Mutation_p.I228M	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	228					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGTAGGCATTGATGAACAGGT	0.473			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(682-684)atC>atG		N-myc downstream regulated 1							273.0	220.0	238.0					8																	134262697		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134262697G>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.684C>G	8.37:g.134262697G>C	ENSP00000404854:p.Ile228Met					NDRG1_ENST00000537882.1_Missense_Mutation_p.I147M|NDRG1_ENST00000323851.7_Missense_Mutation_p.I228M|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.I158M|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.I162M	p.I228M	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		10	1551	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		228					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.684C>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	7.747	0.702590	0.15172	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000535532;ENST00000522476	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.57	3.42	0.39159	.	0.104535	0.64402	D	0.000005	T	0.19765	0.0475	L	0.34521	1.04	0.36320	D	0.858212	P	0.44690	0.841	P	0.47470	0.548	T	0.12041	-1.0563	10	0.46703	T	0.11	-46.8571	8.0281	0.30448	0.0916:0.3074:0.6009:0.0	.	228	Q92597	NDRG1_HUMAN	M	228;158;228;147;56;162	ENSP00000319977:I228M;ENSP00000347028:I158M;ENSP00000404854:I228M;ENSP00000437443:I147M;ENSP00000427894:I162M	ENSP00000319977:I228M	I	-	3	3	NDRG1	134331879	1.000000	0.71417	0.991000	0.47740	0.009000	0.06853	3.595000	0.54016	1.334000	0.45468	-0.175000	0.13238	ATC		0.473	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			41	214	0	0	0	1	0	41	214				
TRPM7	54822	broad.mit.edu	37	15	50903487	50903487	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:50903487C>G	ENST00000313478.7	-	17	2364	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.E695Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	695					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGGACTGTTCTAATAATTCA	0.333																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2083-2085)Gaa>Caa		transient receptor potential cation channel, subfamily M, member 7							80.0	71.0	74.0					15																	50903487		1816	4070	5886	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50903487C>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2083G>C	15.37:g.50903487C>G	ENSP00000320239:p.Glu695Gln					TRPM7_ENST00000560955.1_Missense_Mutation_p.E695Q	p.E695Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	17	2364	-			695					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.2083G>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056846	0.93793	.	.	ENSG00000092439	ENST00000313478	T	0.64618	-0.11	5.73	5.73	0.89815	.	0.103896	0.64402	D	0.000003	T	0.65281	0.2676	M	0.80847	2.515	0.80722	D	1	P	0.40144	0.704	B	0.32289	0.143	T	0.72890	-0.4155	10	0.87932	D	0	-9.6246	19.8961	0.96958	0.0:1.0:0.0:0.0	.	695	Q96QT4	TRPM7_HUMAN	Q	695	ENSP00000320239:E695Q	ENSP00000320239:E695Q	E	-	1	0	TRPM7	48690779	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	GAA		0.333	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		31	73	0	0	0	1	0	31	73				
SEL1L3	23231	broad.mit.edu	37	4	25760611	25760611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:25760611G>C	ENST00000399878.3	-	21	3157	c.3035C>G	c.(3034-3036)tCa>tGa	p.S1012*	SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.S977*|SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.S859*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1012						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATGGAGAGTTGAGTCAATTTC	0.433																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(3034-3036)tCa>tGa		sel-1 suppressor of lin-12-like 3 (C. elegans)							142.0	138.0	139.0					4																	25760611		1882	4109	5991	SO:0001587	stop_gained	23231					integral to membrane	binding	g.chr4:25760611G>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.3035C>G	4.37:g.25760611G>C	ENSP00000382767:p.Ser1012*					SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.S859*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.S977*	p.S1012*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			21	3157	-			1012					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	ENST00000399878.3	37	c.3035C>G	CCDS47037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.238597|4.238597	0.79800|0.79800	.|.	.|.	ENSG00000091490|ENSG00000091490	ENST00000510448|ENST00000399878;ENST00000264868;ENST00000502949;ENST00000507618	.|.	.|.	.|.	5.67|5.67	3.8|3.8	0.43715|0.43715	.|.	.|0.525534	.|0.20727	.|N	.|0.086785	T|.	0.44222|.	0.1283|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52049|.	-0.8627|.	3|.	.|0.31617	.|T	.|0.26	-2.2543|-2.2543	8.067|8.067	0.30667|0.30667	0.0:0.3409:0.4338:0.2252|0.0:0.3409:0.4338:0.2252	.|.	.|.	.|.	.|.	E|X	39|1012;977;859;103	.|.	.|ENSP00000264868:S977X	Q|S	-|-	1|2	0|0	SEL1L3|SEL1L3	25369709|25369709	0.981000|0.981000	0.34729|0.34729	0.963000|0.963000	0.40424|0.40424	0.899000|0.899000	0.52679|0.52679	2.051000|2.051000	0.41307|0.41307	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.433	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		44	88	0	0	0	1	0	44	88				
BAIAP2	10458	broad.mit.edu	37	17	79084738	79084738	+	Intron	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:79084738C>A	ENST00000321300.6	+	13	1628				BAIAP2_ENST00000575245.1_Missense_Mutation_p.F553L|BAIAP2_ENST00000435091.3_Missense_Mutation_p.F520L|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000428708.2_Intron	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCAGATTCTGAGCCGCCT	0.617																																						ENST00000575245.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1657-1659)ttC>ttA		BAI1-associated protein 2							125.0	113.0	117.0					17																	79084738		2203	4300	6503	SO:0001627	intron_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79084738C>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1535+2429C>A	17.37:g.79084738C>A						BAIAP2_ENST00000428708.2_Intron|BAIAP2_ENST00000435091.3_Missense_Mutation_p.F520L|BAIAP2_ENST00000321300.6_Intron|BAIAP2_ENST00000392411.3_Intron	p.F553L			Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		15	1756	+	all_neural(118;0.101)		0					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1659C>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922025	0.52653	.	.	ENSG00000175866	ENST00000435091	T	0.28069	1.63	4.08	-3.74	0.04385	.	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.001	T	0.04413	-1.0953	9	0.87932	D	0	.	11.7447	0.51813	0.0:0.1403:0.0:0.8597	.	521;520	B3KPV9;Q9UQB8-5	.;.	L	520	ENSP00000413069:F520L	ENSP00000413069:F520L	F	+	3	2	BAIAP2	76699333	0.994000	0.37717	0.909000	0.35828	0.986000	0.74619	0.396000	0.20867	-0.705000	0.05035	0.467000	0.42956	TTC		0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			48	68	1	0	2.9001e-28	1	3.09139e-28	48	68				
XIRP2	129446	broad.mit.edu	37	2	168106801	168106801	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:168106801G>C	ENST00000409195.1	+	9	8988	c.8899G>C	c.(8899-8901)Gag>Cag	p.E2967Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2967Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2745Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2792				S -> A (in Ref. 8; CAD91141). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGAAGCAGAGCCAAATAA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8899-8901)Gag>Cag		xin actin-binding repeat containing 2							90.0	88.0	89.0					2																	168106801		1820	4088	5908	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106801G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8899G>C	2.37:g.168106801G>C	ENSP00000386840:p.Glu2967Gln					XIRP2_ENST00000409273.1_Missense_Mutation_p.E2745Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2967Q	p.E2967Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8988	+			2792	S -> A (in Ref. 8; CAD91141).				A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8899G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879895	0.51801	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03330	3.97;3.97;3.97	6.02	5.12	0.69794	.	0.623038	0.17625	N	0.167595	T	0.08935	0.0221	M	0.62723	1.935	0.09310	N	1	P;D;D	0.53151	0.93;0.958;0.958	P;P;P	0.51229	0.462;0.663;0.663	T	0.17868	-1.0355	10	0.51188	T	0.08	-11.4362	8.8581	0.35240	0.075:0.0:0.7741:0.1509	.	2792;2792;2745	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2967;2967;2745;381	ENSP00000386840:E2967Q;ENSP00000295237:E2967Q;ENSP00000387255:E2745Q	ENSP00000295237:E2967Q	E	+	1	0	XIRP2	167815047	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.071000	0.57556	1.496000	0.48567	0.655000	0.94253	GAG		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		45	92	0	0	0	1	0	45	92				
TRBV10-2	28584	broad.mit.edu	37	7	142206614	142206614	+	RNA	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:142206614C>T	ENST00000426318.2	-	0	291									T cell receptor beta variable 10-2																		ACATAGCCATCGGGGACTTCT	0.502																																						ENST00000426318.2																			0																				108.0	116.0	113.0					7																	142206614		2023	4202	6225			28584							g.chr7:142206614C>T	U17049		7q34	2012-02-07			ENSG00000229769	ENSG00000229769		"""T cell receptors / TRB locus"""	12178	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV102, TCRBV10S2, TCRBV12S3			OTTHUMG00000158535		7.37:g.142206614C>T														0	291	-									RNA	SNP	ENST00000426318.2	37																																																																																						0.502	TRBV10-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351241.1	NG_001333		59	145	0	0	0	1	0	59	145				
RAD51B	5890	broad.mit.edu	37	14	69061264	69061264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:69061264C>T	ENST00000487270.1	+	11	1147	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	RAD51B_ENST00000390683.3_Intron|RAD51B_ENST00000487861.1_Intron|RAD51B_ENST00000488612.1_Intron	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	367					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						cctcccacctcagcctcctga	0.453								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1099-1101)Cag>Tag	Direct reversal of damage	RAD51 paralog B							9.0	9.0	9.0					14																	69061264		1029	2133	3162	SO:0001587	stop_gained	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:69061264C>T	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.1099C>T	14.37:g.69061264C>T	ENSP00000419471:p.Gln367*					RAD51B_ENST00000487861.1_Intron|RAD51B_ENST00000488612.1_Intron|RAD51B_ENST00000390683.3_Intron	p.Q367*	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			11	1147	+			367					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Nonsense_Mutation	SNP	ENST00000487270.1	37	c.1099C>T	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	C	1.968	-0.437202	0.04636	.	.	ENSG00000182185	ENST00000487270	.	.	.	0.427	0.427	0.16489	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	.	.	.	.	.	.	.	X	367	.	ENSP00000419471:Q367X	Q	+	1	0	RAD51B	68131017	.	.	0.034000	0.17996	0.068000	0.16541	.	.	0.458000	0.26988	0.467000	0.42956	CAG		0.453	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			4	15	0	0	0	1	0	4	15				
PLEKHA4	57664	broad.mit.edu	37	19	49362295	49362295	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:49362295G>A	ENST00000263265.6	-	8	1349	c.794C>T	c.(793-795)cCc>cTc	p.P265L	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P265L|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	265	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGGGCAGGGGGTGCTGTGTC	0.706																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(793-795)cCc>cTc		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							8.0	9.0	9.0					19																	49362295		2150	4205	6355	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362295G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.794C>T	19.37:g.49362295G>A	ENSP00000263265:p.Pro265Leu					PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P265L	p.P265L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	8	1349	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	265			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.794C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	0.860	-0.735719	0.03111	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.13420	3.2;2.59	4.18	1.87	0.25490	.	0.488841	0.19331	N	0.116886	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.40421	-0.9564	10	0.11485	T	0.65	.	4.49	0.11808	0.442:0.0:0.558:0.0	.	265;265	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	L	265	ENSP00000263265:P265L;ENSP00000347683:P265L	ENSP00000263265:P265L	P	-	2	0	PLEKHA4	54054107	0.051000	0.20477	0.009000	0.14445	0.962000	0.63368	0.643000	0.24750	0.515000	0.28320	0.400000	0.26472	CCC		0.706	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			5	14	0	0	0	1	0	5	14				
TIAM2	26230	broad.mit.edu	37	6	155469444	155469444	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:155469444G>C	ENST00000461783.3	+	9	3277	c.2004G>C	c.(2002-2004)aaG>aaC	p.K668N	TIAM2_ENST00000456144.1_Missense_Mutation_p.K668N|TIAM2_ENST00000367174.2_Missense_Mutation_p.K20N|TIAM2_ENST00000528391.2_5'Flank|TIAM2_ENST00000318981.5_Missense_Mutation_p.K668N|TIAM2_ENST00000529824.2_Missense_Mutation_p.K668N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K668N|TIAM2_ENST00000456877.2_5'Flank			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	668					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCGACCCAAAGAACAGGAAAG	0.478																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2002-2004)aaG>aaC		T-cell lymphoma invasion and metastasis 2							88.0	80.0	83.0					6																	155469444		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155469444G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2004G>C	6.37:g.155469444G>C	ENSP00000437188:p.Lys668Asn					TIAM2_ENST00000529824.2_Missense_Mutation_p.K668N|TIAM2_ENST00000456144.1_Missense_Mutation_p.K668N|TIAM2_ENST00000367174.2_Missense_Mutation_p.K20N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K668N|TIAM2_ENST00000318981.5_Missense_Mutation_p.K668N	p.K668N			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	9	3277	+		Ovarian(120;0.196)	668					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2004G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472756	0.63737	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824	T;T;T;T;T;T;T	0.08193	3.21;3.12;3.18;3.21;3.15;3.19;3.18	5.35	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.66939	2.045	0.40109	D	0.976462	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	T	0.01309	-1.1389	10	0.72032	D	0.01	.	6.6099	0.22745	0.3059:0.0:0.6941:0.0	.	668;668;668	Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;TIAM2_HUMAN	N	668;914;668;668;668;20;668;668	ENSP00000437188:K668N;ENSP00000434901:K668N;ENSP00000407746:K668N;ENSP00000327315:K668N;ENSP00000356142:K20N;ENSP00000353528:K668N;ENSP00000433348:K668N	ENSP00000327315:K668N	K	+	3	2	TIAM2	155511136	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.610000	0.36869	1.258000	0.44101	0.563000	0.77884	AAG		0.478	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		10	20	0	0	0	1	0	10	20				
TMC2	117532	broad.mit.edu	37	20	2593870	2593870	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:2593870C>T	ENST00000358864.1	+	14	1789	c.1774C>T	c.(1774-1776)Ctg>Ttg	p.L592L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	592					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCTGACATGCTGGTAACGTA	0.547																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1774-1776)Ctg>Ttg		transmembrane channel-like 2							197.0	148.0	165.0					20																	2593870		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2593870C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1774C>T	20.37:g.2593870C>T						TMC2_ENST00000496948.1_3'UTR	p.L592L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			14	1789	+			592					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1774C>T	CCDS13029.2																																																																																				0.547	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			21	55	0	0	0	1	0	21	55				
LSAMP	4045	broad.mit.edu	37	3	115805314	115805314	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:115805314G>C	ENST00000490035.2	-	2	744	c.245C>G	c.(244-246)cCa>cGa	p.P82R	LSAMP_ENST00000539563.1_Missense_Mutation_p.P79R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	82	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCAACCCGTGGGTCCAGAGA	0.502																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(244-246)cCa>cGa		limbic system-associated membrane protein							121.0	108.0	113.0					3																	115805314		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805314G>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.245C>G	3.37:g.115805314G>C	ENSP00000419000:p.Pro82Arg					LSAMP_ENST00000539563.1_Missense_Mutation_p.P79R	p.P82R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	744	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	82			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.245C>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249051	0.80024	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.5	5.5	0.81552	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.79343	2.45	0.80722	D	1	D;P	0.89917	1.0;0.848	D;D	0.91635	0.999;0.927	T	0.63703	-0.6577	10	0.87932	D	0	-12.2949	19.3867	0.94560	0.0:0.0:1.0:0.0	.	82;82	B2RCU8;Q13449	.;LSAMP_HUMAN	R	66;82;79;116	ENSP00000328455:P66R;ENSP00000419000:P82R;ENSP00000443429:P79R;ENSP00000418506:P116R	ENSP00000328455:P66R	P	-	2	0	LSAMP	117288004	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.839000	0.86812	2.592000	0.87571	0.555000	0.69702	CCA		0.502	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		26	40	0	0	0	1	0	26	40				
POLQ	10721	broad.mit.edu	37	3	121208473	121208473	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:121208473G>C	ENST00000264233.5	-	16	3433	c.3305C>G	c.(3304-3306)tCt>tGt	p.S1102C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1102					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCACTCAAAGATACATTTTT	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3304-3306)tCt>tGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							43.0	48.0	46.0					3																	121208473		2172	4289	6461	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208473G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3305C>G	3.37:g.121208473G>C	ENSP00000264233:p.Ser1102Cys						p.S1102C	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3433	-			1102					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3305C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755865	0.15846	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58797	0.31	4.87	1.98	0.26296	.	0.417682	0.26820	N	0.022326	T	0.51075	0.1653	N	0.24115	0.695	0.09310	N	1	D;D	0.63880	0.993;0.988	P;P	0.55161	0.707;0.77	T	0.42032	-0.9475	10	0.49607	T	0.09	.	8.1419	0.31089	0.0:0.329:0.501:0.17	.	1102;274	O75417;O75417-2	DPOLQ_HUMAN;.	C	725;1102;1238	ENSP00000264233:S1102C	ENSP00000264233:S1102C	S	-	2	0	POLQ	122691163	0.007000	0.16637	0.002000	0.10522	0.004000	0.04260	1.472000	0.35376	0.226000	0.20979	-0.261000	0.10672	TCT		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		42	88	0	0	0	1	0	42	88				
BAI1	575	broad.mit.edu	37	8	143558507	143558507	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:143558507A>G	ENST00000517894.1	+	5	1984	c.1090A>G	c.(1090-1092)Agc>Ggc	p.S364G	BAI1_ENST00000323289.5_Missense_Mutation_p.S364G			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	364	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCCCCGTGGAGCGTGTGCTC	0.711																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1090-1092)Agc>Ggc		brain-specific angiogenesis inhibitor 1							14.0	19.0	17.0					8																	143558507		2052	4191	6243	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558507A>G	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1090A>G	8.37:g.143558507A>G	ENSP00000430945:p.Ser364Gly					BAI1_ENST00000323289.5_Missense_Mutation_p.S364G	p.S364G			O14514	BAI1_HUMAN			5	1984	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		364			TSP type-1 2.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1090A>G		.	.	.	.	.	.	.	.	.	.	A	26.9	4.785493	0.90282	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.62941	-0.01;-0.01	4.42	4.42	0.53409	.	0.113986	0.56097	U	0.000021	T	0.68412	0.2998	L	0.31065	0.9	0.54753	D	0.999985	D	0.76494	0.999	D	0.83275	0.996	T	0.72447	-0.4291	10	0.87932	D	0	.	13.1242	0.59344	1.0:0.0:0.0:0.0	.	364	E9PBK0	.	G	364	ENSP00000430945:S364G;ENSP00000313046:S364G	ENSP00000313046:S364G	S	+	1	0	BAI1	143555509	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.174000	0.77620	1.738000	0.51689	0.379000	0.24179	AGC		0.711	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		28	17	0	0	0	1	0	28	17				
GREB1	9687	broad.mit.edu	37	2	11706755	11706755	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:11706755G>A	ENST00000381486.2	+	4	727	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GREB1_ENST00000234142.5_Missense_Mutation_p.D143N|GREB1_ENST00000263834.5_Missense_Mutation_p.D143N|GREB1_ENST00000381483.2_Missense_Mutation_p.D143N|GREB1_ENST00000389825.3_Missense_Mutation_p.D33N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	143						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTTCTTGCCAGATGACAATGG	0.592																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(427-429)Gat>Aat		growth regulation by estrogen in breast cancer 1							177.0	140.0	152.0					2																	11706755		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11706755G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.427G>A	2.37:g.11706755G>A	ENSP00000370896:p.Asp143Asn					GREB1_ENST00000381483.2_Missense_Mutation_p.D143N|GREB1_ENST00000389825.3_Missense_Mutation_p.D33N|GREB1_ENST00000234142.5_Missense_Mutation_p.D143N|GREB1_ENST00000263834.5_Missense_Mutation_p.D143N	p.D143N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	4	727	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		143					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.427G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520792	0.85495	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.58506	2.77;1.77;0.33;1.78;2.77	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	T	0.72268	-0.4343	10	0.46703	T	0.11	-24.8344	14.2635	0.66099	0.0716:0.0:0.9284:0.0	.	143;33;143;143	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	N	143;143;33;143;143	ENSP00000370896:D143N;ENSP00000263834:D143N;ENSP00000374475:D33N;ENSP00000370892:D143N;ENSP00000234142:D143N	ENSP00000234142:D143N	D	+	1	0	GREB1	11624206	1.000000	0.71417	0.362000	0.25862	0.721000	0.41392	9.657000	0.98554	1.329000	0.45376	0.655000	0.94253	GAT		0.592	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		45	116	0	0	0	1	0	45	116				
TEX10	54881	broad.mit.edu	37	9	103109132	103109132	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:103109132C>T	ENST00000374902.4	-	3	913	c.737G>A	c.(736-738)aGa>aAa	p.R246K	TEX10_ENST00000535814.1_Missense_Mutation_p.R249K|TEX10_ENST00000537512.1_Missense_Mutation_p.R181K	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	246						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCACTTTCTCTCAACCTACT	0.453																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(736-738)aGa>aAa		testis expressed 10							133.0	129.0	130.0					9																	103109132		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109132C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.737G>A	9.37:g.103109132C>T	ENSP00000364037:p.Arg246Lys					TEX10_ENST00000537512.1_Missense_Mutation_p.R181K|TEX10_ENST00000535814.1_Missense_Mutation_p.R249K	p.R246K	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	913	-		Acute lymphoblastic leukemia(62;0.0527)	246					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.737G>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	1.439	-0.568233	0.03910	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	.	.	.	5.26	5.26	0.73747	Armadillo-type fold (1);	0.417690	0.28047	N	0.016808	T	0.32466	0.0830	L	0.36672	1.1	0.28663	N	0.906016	B;B;B;P;B	0.44044	0.023;0.109;0.27;0.825;0.064	B;B;B;B;B	0.42827	0.01;0.031;0.128;0.399;0.021	T	0.18967	-1.0320	9	0.06099	T	0.92	-12.4278	13.554	0.61749	0.0:0.7138:0.2862:0.0	.	181;249;114;114;246	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	K	249;246;114;181	.	ENSP00000364037:R246K	R	-	2	0	TEX10	102148953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.006000	0.40874	2.450000	0.82876	0.655000	0.94253	AGA		0.453	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		50	90	0	0	0	1	0	50	90				
C6orf136	221545	broad.mit.edu	37	6	30613683	30613683	+	5'Flank	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:30613683C>G	ENST00000376473.5	+	0	0				C6orf136_ENST00000376471.4_5'Flank|C6orf136_ENST00000293604.6_5'Flank|AL662800.2_ENST00000583820.1_RNA|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000330083.5_Missense_Mutation_p.P315R|ATAT1_ENST00000376478.2_Missense_Mutation_p.P304R|ATAT1_ENST00000376485.4_Missense_Mutation_p.P327R	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGGACTCCCCCAGGTCTGGTA	0.532																																						ENST00000330083.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(943-945)cCa>cGa		alpha tubulin acetyltransferase 1							14.0	14.0	14.0					6																	30613683		1156	2497	3653	SO:0001631	upstream_gene_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30613683C>G	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221		6.37:g.30613683C>G	Exception_encountered					ATAT1_ENST00000376485.4_Missense_Mutation_p.P327R|ATAT1_ENST00000376478.2_Missense_Mutation_p.P304R|ATAT1_ENST00000468713.1_3'UTR	p.P315R	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN			11	1262	+			327					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.944C>G	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540370	0.13250	.	.	ENSG00000137343	ENST00000376485;ENST00000376478;ENST00000330083	.	.	.	4.08	3.18	0.36537	.	0.307812	0.29660	N	0.011521	T	0.09158	0.0226	N	0.24115	0.695	0.22771	N	0.998754	B;B	0.13145	0.007;0.006	B;B	0.16722	0.016;0.011	T	0.33929	-0.9849	9	0.09590	T	0.72	-1.0326	9.22	0.37370	0.0:0.7654:0.2346:0.0	.	315;327	Q5SQI0-2;Q5SQI0	.;ATAT_HUMAN	R	327;304;315	.	ENSP00000327832:P315R	P	+	2	0	ATAT1	30721662	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.112000	0.31172	0.890000	0.36211	0.585000	0.79938	CCA		0.532	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		6	4	0	0	0	1	0	6	4				
GJA4	2701	broad.mit.edu	37	1	35259836	35259836	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:35259836G>A	ENST00000342280.4	+	2	110	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	8					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGCTTCCTGGAGAAGTTGCT	0.617																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(22-24)Gag>Aag		gap junction protein, alpha 4, 37kDa							67.0	63.0	64.0					1																	35259836		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35259836G>A	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.22G>A	1.37:g.35259836G>A	ENSP00000343676:p.Glu8Lys						p.E8K	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	110	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	8					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.22G>A	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918515	0.33908	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.99089	-5.41;-5.41	5.48	3.59	0.41128	Connexin, N-terminal (1);	0.173363	0.48767	D	0.000167	D	0.96710	0.8926	L	0.31578	0.945	0.47511	D	0.999447	B;B	0.27700	0.08;0.186	B;B	0.35859	0.14;0.212	D	0.93753	0.7060	10	0.49607	T	0.09	.	7.3989	0.26952	0.0674:0.1224:0.6832:0.127	.	8;8	Q5JW71;P35212	.;CXA4_HUMAN	K	8	ENSP00000343676:E8K;ENSP00000409186:E8K	ENSP00000343676:E8K	E	+	1	0	GJA4	35032423	1.000000	0.71417	0.695000	0.30226	0.201000	0.24016	6.716000	0.74702	0.655000	0.30866	-0.182000	0.12963	GAG		0.617	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		11	36	0	0	0	1	0	11	36				
ETHE1	23474	broad.mit.edu	37	19	44030763	44030763	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:44030763C>G	ENST00000292147.2	-	2	196	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	ZNF575_ENST00000458714.2_Silent_p.L40L|ETHE1_ENST00000600651.1_Missense_Mutation_p.E44Q	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	44					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TCCCGGGACTCTCTGTCACCC	0.637																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(130-132)Gag>Cag		ethylmalonic encephalopathy 1							37.0	35.0	36.0					19																	44030763		2203	4300	6503	SO:0001583	missense	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44030763C>G		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.130G>C	19.37:g.44030763C>G	ENSP00000292147:p.Glu44Gln					ZNF575_ENST00000458714.2_Silent_p.L40L|ETHE1_ENST00000292147.2_Missense_Mutation_p.E44Q	p.E44Q			O95571	ETHE1_HUMAN			2	153	-		Prostate(69;0.0153)	44					Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	c.130G>C	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597757	0.28445	.	.	ENSG00000105755	ENST00000292147	D	0.95821	-3.82	3.46	3.46	0.39613	Beta-lactamase-like (2);	0.321778	0.32041	N	0.006661	D	0.88945	0.6575	L	0.27944	0.81	0.80722	D	1	B;B	0.17268	0.008;0.021	B;B	0.19946	0.016;0.027	T	0.82125	-0.0612	10	0.16896	T	0.51	-10.9452	6.8688	0.24108	0.0:0.8726:0.0:0.1274	.	17;44	B2RCZ7;O95571	.;ETHE1_HUMAN	Q	44	ENSP00000292147:E44Q	ENSP00000292147:E44Q	E	-	1	0	ETHE1	48722603	0.223000	0.23663	0.997000	0.53966	0.881000	0.50899	1.089000	0.30890	1.946000	0.56461	0.555000	0.69702	GAG		0.637	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		12	34	0	0	0	1	0	12	34				
ADAMTS18	170692	broad.mit.edu	37	16	77465343	77465343	+	Nonsense_Mutation	SNP	G	G	T	rs145596475		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:77465343G>T	ENST00000282849.5	-	3	762	c.344C>A	c.(343-345)tCg>tAg	p.S115*	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	115					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S115L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAAATCGCCGAGGGCTTAAG	0.488																																						ENST00000282849.5																			1	Substitution - Missense(1)	p.S115L(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(343-345)tCg>tAg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							134.0	136.0	135.0					16																	77465343		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465343G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.344C>A	16.37:g.77465343G>T	ENSP00000282849:p.Ser115*					ADAMTS18_ENST00000567121.1_5'UTR	p.S115*	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			3	762	-			115					Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.344C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	43	10.358361	0.99390	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	.	.	.	5.82	5.82	0.92795	.	0.067765	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0792	0.93175	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000282849:S115X	S	-	2	0	ADAMTS18	76022844	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.908000	0.92640	2.755000	0.94549	0.591000	0.81541	TCG		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			84	146	1	0	5.71386e-39	1	6.12986e-39	84	146				
CFAP69	79846	broad.mit.edu	37	7	89884785	89884785	+	Missense_Mutation	SNP	G	G	C	rs535437623		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:89884785G>C	ENST00000389297.4	+	2	420	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	C7orf63_ENST00000497910.1_Missense_Mutation_p.E57Q|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.E57Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		57										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTCCTCGAAGAGACTGATAA	0.338																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(169-171)Gag>Cag		chromosome 7 open reading frame 63							203.0	193.0	196.0					7																	89884785		1810	4077	5887	SO:0001583	missense	79846						binding	g.chr7:89884785G>C																												ENST00000389297.4:c.169G>C	7.37:g.89884785G>C	ENSP00000373948:p.Glu57Gln					C7orf63_ENST00000497910.1_Missense_Mutation_p.E57Q|C7orf63_ENST00000316089.8_Missense_Mutation_p.E57Q|C7orf63_ENST00000463311.1_3'UTR	p.E57Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			2	420	+			57					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.169G>C	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362457	0.24684	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.15834	2.39;2.39;2.39	4.82	3.02	0.34903	.	0.143997	0.43416	D	0.000569	T	0.15305	0.0369	L	0.54323	1.7	0.19775	N	0.999956	B;B;P	0.43352	0.026;0.069;0.804	B;B;B	0.39738	0.032;0.11;0.308	T	0.10200	-1.0640	10	0.38643	T	0.18	-3.8523	7.3515	0.26693	0.1975:0.0:0.8025:0.0	.	57;57;57	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	Q	57	ENSP00000373948:E57Q;ENSP00000321753:E57Q;ENSP00000419549:E57Q	ENSP00000321753:E57Q	E	+	1	0	C7orf63	89722721	1.000000	0.71417	0.866000	0.34008	0.553000	0.35397	2.330000	0.43885	0.640000	0.30582	-0.229000	0.12294	GAG		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			95	177	0	0	0	1	0	95	177				
PLEKHG4B	153478	broad.mit.edu	37	5	181768	181768	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:181768C>T	ENST00000283426.6	+	17	3524	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1158							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACCGAGTCCCCGACAGCATCG	0.622																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3472-3474)ccC>ccT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							109.0	100.0	103.0					5																	181768		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:181768C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3474C>T	5.37:g.181768C>T							p.P1158P	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	17	3524	+			1158						Silent	SNP	ENST00000283426.6	37	c.3474C>T	CCDS34124.1																																																																																				0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		34	68	0	0	0	1	0	34	68				
ABCC11	85320	broad.mit.edu	37	16	48249115	48249115	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:48249115G>A	ENST00000394747.1	-	7	1441	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ABCC11_ENST00000394748.1_Silent_p.I364I|ABCC11_ENST00000356608.2_Silent_p.I364I|ABCC11_ENST00000353782.5_Silent_p.I364I|ABCC11_ENST00000537808.1_Silent_p.I364I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	364	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.I364I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TACCTTCAATGATTTTTGCAA	0.443																																						ENST00000394747.1																			1	Substitution - coding silent(1)	p.I364I(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1090-1092)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							142.0	146.0	144.0					16																	48249115		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48249115G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1092C>T	16.37:g.48249115G>A						ABCC11_ENST00000353782.5_Silent_p.I364I|ABCC11_ENST00000356608.2_Silent_p.I364I|ABCC11_ENST00000537808.1_Silent_p.I364I|ABCC11_ENST00000394748.1_Silent_p.I364I	p.I364I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			7	1441	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	364			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.1092C>T	CCDS10732.1																																																																																				0.443	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		52	150	0	0	0	1	0	52	150				
PATL1	219988	broad.mit.edu	37	11	59406558	59406558	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:59406558C>G	ENST00000300146.9	-	18	2338	c.2254G>C	c.(2254-2256)Gac>Cac	p.D752H	AP000442.1_ENST00000531311.1_RNA|AP000442.1_ENST00000531108.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	752	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGCCGGTCAACATAGCGA	0.463																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(2254-2256)Gac>Cac		protein associated with topoisomerase II homolog 1 (yeast)							95.0	92.0	93.0					11																	59406558		1907	4133	6040	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59406558C>G	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.2254G>C	11.37:g.59406558C>G	ENSP00000300146:p.Asp752His					AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	p.D752H	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			18	2338	-			752			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.2254G>C	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997892	0.93227	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.59083	0.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73754	-0.3883	10	0.72032	D	0.01	-17.3384	20.2312	0.98350	0.0:1.0:0.0:0.0	.	752	Q86TB9	PATL1_HUMAN	H	752;685	ENSP00000300146:D752H	ENSP00000300146:D752H	D	-	1	0	PATL1	59163134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.021000	0.76425	2.882000	0.98803	0.655000	0.94253	GAC		0.463	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		24	50	0	0	0	1	0	24	50				
ANKRD11	29123	broad.mit.edu	37	16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:89350644G>C	ENST00000301030.4	-	9	2766	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGTCTTTTGATTTCTTCTT	0.348																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2305-2307)tCa>tGa		ankyrin repeat domain 11							54.0	58.0	57.0					16																	89350644		2194	4294	6488	SO:0001587	stop_gained	29123					nucleus		g.chr16:89350644G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2306C>G	16.37:g.89350644G>C	ENSP00000301030:p.Ser769*					ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2766	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	769			Lys-rich.		Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	ENST00000301030.4	37	c.2306C>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	43	10.427293	0.99403	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	.	.	.	5.66	4.68	0.58851	.	0.078412	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	11.464	0.50227	0.0:0.136:0.7227:0.1413	.	.	.	.	X	769;769;388	.	ENSP00000301030:S769X	S	-	2	0	ANKRD11	87878145	1.000000	0.71417	0.746000	0.31095	0.968000	0.65278	6.319000	0.72871	1.350000	0.45770	0.561000	0.74099	TCA		0.348	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		28	94	0	0	0	1	0	28	94				
ARID2	196528	broad.mit.edu	37	12	46246147	46246147	+	Missense_Mutation	SNP	G	G	A	rs146518146		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:46246147G>A	ENST00000334344.6	+	15	4413	c.4241G>A	c.(4240-4242)aGa>aAa	p.R1414K	ARID2_ENST00000457135.1_Missense_Mutation_p.R22K|ARID2_ENST00000422737.1_Missense_Mutation_p.R1265K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R1024K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1414					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAACTAGAAAGAATTTCTAAT	0.408			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4240-4242)aGa>aAa		AT rich interactive domain 2 (ARID, RFX-like)							77.0	79.0	78.0					12																	46246147		2203	4299	6502	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246147G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4241G>A	12.37:g.46246147G>A	ENSP00000335044:p.Arg1414Lys					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R1024K|ARID2_ENST00000457135.1_Missense_Mutation_p.R22K|ARID2_ENST00000422737.1_Missense_Mutation_p.R1265K	p.R1414K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4413	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1414					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4241G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037057	0.35893	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.40476	1.03	6.07	6.07	0.98685	.	0.041280	0.85682	D	0.000000	T	0.28566	0.0707	N	0.19112	0.55	0.42771	D	0.993835	B;B;B	0.19583	0.009;0.037;0.005	B;B;B	0.19148	0.013;0.024;0.006	T	0.09574	-1.0668	10	0.19590	T	0.45	-13.6115	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	1414;1024;1414	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	K	1414;531;531;1265;1024;22	ENSP00000335044:R1414K	ENSP00000335044:R1414K	R	+	2	0	ARID2	44532414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.230000	0.78097	2.884000	0.98904	0.655000	0.94253	AGA		0.408	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		48	84	0	0	0	1	0	48	84				
DIDO1	11083	broad.mit.edu	37	20	61513015	61513015	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:61513015C>G	ENST00000266070.4	-	16	4618	c.4293G>C	c.(4291-4293)gaG>gaC	p.E1431D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1431D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1431					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTAAGATGGTCTCATCCTCGG	0.612																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4291-4293)gaG>gaC		death inducer-obliterator 1							99.0	108.0	105.0					20																	61513015		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513015C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4293G>C	20.37:g.61513015C>G	ENSP00000266070:p.Glu1431Asp					DIDO1_ENST00000395343.1_Missense_Mutation_p.E1431D	p.E1431D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4618	-	Breast(26;5.68e-08)		1431					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4293G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142293	0.37825	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10288	2.89;2.89	5.8	2.37	0.29283	.	0.000000	0.43579	D	0.000560	T	0.09024	0.0223	L	0.54323	1.7	0.80722	D	1	P	0.43750	0.816	B	0.38225	0.268	T	0.20974	-1.0259	10	0.33141	T	0.24	-48.8404	5.5658	0.17170	0.0:0.4089:0.0:0.5911	.	1431	Q9BTC0	DIDO1_HUMAN	D	1431	ENSP00000266070:E1431D;ENSP00000378752:E1431D	ENSP00000266070:E1431D	E	-	3	2	DIDO1	60983460	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	1.177000	0.31969	0.731000	0.32448	-0.345000	0.07892	GAG		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		68	127	0	0	0	1	0	68	127				
CNOT1	23019	broad.mit.edu	37	16	58621779	58621779	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:58621779G>C	ENST00000317147.5	-	4	546	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q72E|CNOT1_ENST00000441024.2_Missense_Mutation_p.Q72E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(214-216)Cag>Gag		CCR4-NOT transcription complex, subunit 1							64.0	64.0	64.0					16																	58621779		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621779G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.214C>G	16.37:g.58621779G>C	ENSP00000320949:p.Gln72Glu					CNOT1_ENST00000569240.1_Missense_Mutation_p.Q72E|CNOT1_ENST00000441024.2_Missense_Mutation_p.Q72E	p.Q72E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	4	546	-			72					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.214C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150654	0.78001	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.23754	1.89;1.89	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.73217	2.22	0.80722	D	1	P;P;P	0.43578	0.811;0.462;0.597	P;B;B	0.57960	0.83;0.098;0.256	T	0.27606	-1.0069	9	.	.	.	.	19.879	0.96888	0.0:0.0:1.0:0.0	.	72;72;72	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	E	72	ENSP00000320949:Q72E;ENSP00000413113:Q72E	.	Q	-	1	0	CNOT1	57179280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.695000	0.91970	0.655000	0.94253	CAG		0.353	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		22	30	0	0	0	1	0	22	30				
ZAK	51776	broad.mit.edu	37	2	174096945	174096945	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:174096945G>C	ENST00000375213.3	+	13	1136	c.1058G>C	c.(1057-1059)aGa>aCa	p.R353T	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R353T|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		353	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGCTCGTCAGAAAAGGCAAG	0.388																																						ENST00000375213.3																			0											c.(1057-1059)aGa>aCa									194.0	179.0	184.0					2																	174096945		1890	4125	6015	SO:0001583	missense	51776							g.chr2:174096945G>C																												ENST00000375213.3:c.1058G>C	2.37:g.174096945G>C	ENSP00000364361:p.Arg353Thr					MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R353T	p.R353T	NM_016653.2	NP_057737.2					13	1136	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.1058G>C	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199611	0.38806	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.42513	0.97;0.97	5.79	2.94	0.34122	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.304113	0.42420	N	0.000703	T	0.31796	0.0808	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07424	-1.0773	10	0.33940	T	0.23	.	6.8535	0.24028	0.1483:0.3007:0.551:0.0	.	353	Q9NYL2	MLTK_HUMAN	T	353	ENSP00000387259:R353T;ENSP00000364361:R353T	ENSP00000364361:R353T	R	+	2	0	AC013461.1	173805191	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.923000	0.40055	0.322000	0.23283	0.637000	0.83480	AGA		0.388	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			39	107	0	0	0	1	0	39	107				
MTMR6	9107	broad.mit.edu	37	13	25828547	25828547	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:25828547G>C	ENST00000381801.5	-	10	1882	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	MTMR6_ENST00000540661.1_Missense_Mutation_p.S374C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	374	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ATGTCCAAAAGAGATCCAATC	0.284																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(1120-1122)tCt>tGt		myotubularin related protein 6							36.0	38.0	37.0					13																	25828547		2202	4294	6496	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25828547G>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1121C>G	13.37:g.25828547G>C	ENSP00000371221:p.Ser374Cys					MTMR6_ENST00000540661.1_Missense_Mutation_p.S374C	p.S374C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	10	1882	-		Lung SC(185;0.0225)|Breast(139;0.0351)	374			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1121C>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623628	0.87460	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91351	-2.83;-2.83	5.46	5.46	0.80206	Myotubularin phosphatase domain (1);	0.174701	0.56097	D	0.000035	D	0.96034	0.8708	M	0.86573	2.825	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.976	D	0.96431	0.9319	10	0.87932	D	0	.	19.2969	0.94126	0.0:0.0:1.0:0.0	.	374;374	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	C	374	ENSP00000443161:S374C;ENSP00000371221:S374C	ENSP00000371221:S374C	S	-	2	0	MTMR6	24726547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.684000	0.74538	2.557000	0.86248	0.557000	0.71058	TCT		0.284	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		8	28	0	0	0	1	0	8	28				
NTN5	126147	broad.mit.edu	37	19	49173889	49173889	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:49173889C>T	ENST00000270235.4	-	2	450	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	119						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTCACCCTTTCAGGGCCCCCT	0.701																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(355-357)Gaa>Aaa		netrin 5							8.0	10.0	9.0					19																	49173889		2183	4271	6454	SO:0001583	missense	126147					extracellular region		g.chr19:49173889C>T		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.355G>A	19.37:g.49173889C>T	ENSP00000270235:p.Glu119Lys					SEC1P_ENST00000430145.2_RNA	p.E119K	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			2	450	-			119					Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.355G>A	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	7.037	0.561765	0.13498	.	.	ENSG00000142233	ENST00000270235	T	0.26067	1.76	4.59	2.43	0.29744	.	0.402421	0.24091	N	0.041622	T	0.16214	0.0390	L	0.31294	0.92	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.11329	0.006;0.003	T	0.16778	-1.0391	10	0.42905	T	0.14	.	6.3909	0.21585	0.0:0.6772:0.0:0.3228	.	119;119	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	K	119	ENSP00000270235:E119K	ENSP00000270235:E119K	E	-	1	0	NTN5	53865701	0.944000	0.32072	0.014000	0.15608	0.412000	0.31113	1.050000	0.30404	0.466000	0.27193	0.455000	0.32223	GAA		0.701	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		3	11	0	0	0	1	0	3	11				
ZNF518B	85460	broad.mit.edu	37	4	10445505	10445505	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:10445505C>T	ENST00000326756.3	-	3	2886	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	816					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCGCCTGTCTCACAGGGCAAA	0.468																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2446-2448)gtG>gtA		zinc finger protein 518B							94.0	93.0	94.0					4																	10445505		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445505C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2448G>A	4.37:g.10445505C>T							p.V816V	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2886	-			816					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.2448G>A	CCDS33960.1																																																																																				0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		59	109	0	0	0	1	0	59	109				
RB1CC1	9821	broad.mit.edu	37	8	53596249	53596249	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:53596249C>G	ENST00000025008.5	-	5	752	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E77Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E77Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	77					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAGATCATTTCTTTGTTAAAA	0.308																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(229-231)Gaa>Caa		RB1-inducible coiled-coil 1							34.0	36.0	35.0					8																	53596249		2203	4298	6501	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53596249C>G	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.229G>C	8.37:g.53596249C>G	ENSP00000025008:p.Glu77Gln					RB1CC1_ENST00000539297.1_Missense_Mutation_p.E77Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E77Q	p.E77Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			5	752	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	77					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.229G>C	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408236	0.83340	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15487	2.42;2.42;2.42	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.33214	-0.9877	10	0.48119	T	0.1	-13.7143	14.3282	0.66534	0.0:0.9282:0.0:0.0718	.	77;77	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	Q	77;77;77;25	ENSP00000025008:E77Q;ENSP00000396067:E77Q;ENSP00000445960:E77Q	ENSP00000025008:E77Q	E	-	1	0	RB1CC1	53758802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.686000	0.68211	1.375000	0.46248	0.563000	0.77884	GAA		0.308	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		54	43	0	0	0	1	0	54	43				
OR2T27	403239	broad.mit.edu	37	1	248813492	248813492	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:248813492C>T	ENST00000344889.3	-	1	693	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCTCCCCTCTGCCTCGCTC	0.498																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(694-696)Gag>Aag		olfactory receptor, family 2, subfamily T, member 27							43.0	28.0	33.0					1																	248813492		2182	4249	6431	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813492C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.694G>A	1.37:g.248813492C>T	ENSP00000342008:p.Glu232Lys						p.E232K	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	693	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	232						Missense_Mutation	SNP	ENST00000344889.3	37	c.694G>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	6.275	0.418824	0.11870	.	.	ENSG00000187701	ENST00000344889	T	0.00174	8.62	3.42	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	0.180393	0.26394	N	0.024628	T	0.00178	0.0005	L	0.45744	1.44	0.09310	N	1	B	0.33826	0.427	B	0.37888	0.26	T	0.29181	-1.0020	10	0.51188	T	0.08	.	7.1615	0.25667	0.3416:0.4921:0.1663:0.0	.	232	Q8NH04	O2T27_HUMAN	K	232	ENSP00000342008:E232K	ENSP00000342008:E232K	E	-	1	0	OR2T27	246880115	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-1.758000	0.01810	0.248000	0.21435	-0.723000	0.03601	GAG		0.498	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		10	31	0	0	0	1	0	10	31				
DNAH17	8632	broad.mit.edu	37	17	76440870	76440870	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:76440870C>G	ENST00000585328.1	-	71	11453	c.11329G>C	c.(11329-11331)Gag>Cag	p.E3777Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E3768Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3768					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATCCATCTCCGAGAGGGCC	0.577																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11302-11304)Gag>Cag		dynein, axonemal, heavy chain 17							51.0	50.0	51.0					17																	76440870		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76440870C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11329G>C	17.37:g.76440870C>G	ENSP00000465516:p.Glu3777Gln					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3777Q	p.E3768Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		71	11426	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.11302G>C		.	.	.	.	.	.	.	.	.	.	C	10.64	1.407714	0.25378	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08807	3.05	5.12	5.12	0.69794	.	0.271180	0.31660	N	0.007263	T	0.06462	0.0166	N	0.25245	0.725	0.34531	D	0.709255	B	0.13145	0.007	B	0.16722	0.016	T	0.27054	-1.0085	10	0.15066	T	0.55	.	13.5379	0.61657	0.1558:0.8442:0.0:0.0	.	3777	E7EUM8	.	Q	3777;3768	ENSP00000374490:E3768Q	ENSP00000300671:E3777Q	E	-	1	0	DNAH17	73952465	0.739000	0.28196	0.998000	0.56505	0.992000	0.81027	2.201000	0.42734	2.379000	0.81126	0.655000	0.94253	GAG		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		9	36	0	0	0	1	0	9	36				
PUS7	54517	broad.mit.edu	37	7	105148734	105148734	+	Missense_Mutation	SNP	C	C	A	rs141121953		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:105148734C>A	ENST00000356362.2	-	2	440	c.226G>T	c.(226-228)Gct>Tct	p.A76S	PUS7_ENST00000469408.1_Missense_Mutation_p.A76S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	76					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCCAACTGAGCCTCAGAATTC	0.493																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(226-228)Gct>Tct		pseudouridylate synthase 7 homolog (S. cerevisiae)							214.0	187.0	196.0					7																	105148734		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148734C>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.226G>T	7.37:g.105148734C>A	ENSP00000348722:p.Ala76Ser					PUS7_ENST00000469408.1_Missense_Mutation_p.A76S	p.A76S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			2	440	-			76					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.226G>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268875	0.40095	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.42513	0.97;0.97	5.71	2.83	0.33086	.	0.996923	0.08134	N	0.992745	T	0.25644	0.0624	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.32613	-0.9900	10	0.08837	T	0.75	-4.2189	3.3712	0.07222	0.1245:0.4837:0.2422:0.1496	.	76;76	B3KY42;Q96PZ0	.;PUS7_HUMAN	S	76	ENSP00000348722:A76S;ENSP00000417402:A76S	ENSP00000348722:A76S	A	-	1	0	PUS7	104935970	0.002000	0.14202	0.005000	0.12908	0.195000	0.23768	0.400000	0.20932	0.298000	0.22638	0.561000	0.74099	GCT		0.493	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		52	152	1	0	4.88482e-21	1	5.14138e-21	52	152				
UBA1	7317	broad.mit.edu	37	X	47058240	47058240	+	Silent	SNP	C	C	T	rs141450062		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:47058240C>T	ENST00000335972.6	+	2	222	c.39C>T	c.(37-39)tcC>tcT	p.S13S	UBA1_ENST00000377351.4_Silent_p.S13S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	13					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCGCGTGTCCGGGCCTGATC	0.572													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14217	0.0		0.0	False		,,,				2504	0.0					ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(37-39)tcC>tcT		ubiquitin-like modifier activating enzyme 1		C	,	4,3831		0,4,1628,571	89.0	69.0	76.0		39,39	3.5	1.0	X	dbSNP_134	76	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	UBA1	NM_003334.3,NM_153280.2	,	0,4,4056,2443	TT,TC,CC,C		0.0,0.1043,0.0379	,	13/1059,13/1059	47058240	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058240C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.39C>T	X.37:g.47058240C>T						UBA1_ENST00000377351.4_Silent_p.S13S	p.S13S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			2	222	+			13					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.39C>T	CCDS14275.1																																																																																				0.572	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		18	18	0	0	0	1	0	18	18				
SYNDIG1	79953	broad.mit.edu	37	20	24524081	24524081	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:24524081C>T	ENST00000376862.3	+	2	981	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	116					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCACCTTCATCGAGGACCGGT	0.597																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(346-348)atC>atT		synapse differentiation inducing 1							70.0	72.0	71.0					20																	24524081		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524081C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.348C>T	20.37:g.24524081C>T							p.I116I	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	981	+			116					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.348C>T	CCDS13164.1																																																																																				0.597	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		33	118	0	0	0	1	0	33	118				
TPP2	7174	broad.mit.edu	37	13	103275226	103275226	+	Splice_Site	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:103275226G>C	ENST00000376065.4	+	6	656		c.e6-1		TPP2_ENST00000376052.3_Splice_Site	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAATTAATAGAGCCTGCATT	0.343																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.e6-1		tripeptidyl peptidase II							76.0	82.0	80.0					13																	103275226		2203	4300	6503	SO:0001630	splice_region_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103275226G>C	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.621-1G>C	13.37:g.103275226G>C						TPP2_ENST00000376065.4_Splice_Site				P29144	TPP2_HUMAN			6	636	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							Q5VZU8	Splice_Site	SNP	ENST00000376065.4	37		CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404961	0.83230	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPP2	102073227	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.603000	0.90871	2.843000	0.97960	0.585000	0.79938	.		0.343	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		Intron	56	140	0	0	0	1	0	56	140				
EHBP1	23301	broad.mit.edu	37	2	63175858	63175858	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:63175858G>T	ENST00000263991.5	+	14	2464	c.1982G>T	c.(1981-1983)gGa>gTa	p.G661V	EHBP1_ENST00000405015.3_Missense_Mutation_p.G626V|EHBP1_ENST00000354487.3_Missense_Mutation_p.G626V|EHBP1_ENST00000431489.1_Missense_Mutation_p.G626V|EHBP1_ENST00000405289.1_Missense_Mutation_p.G626V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	661						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAGAGCTCTGGAAGGACTTCA	0.463																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1981-1983)gGa>gTa		EH domain binding protein 1							54.0	55.0	54.0					2																	63175858		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63175858G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1982G>T	2.37:g.63175858G>T	ENSP00000263991:p.Gly661Val					EHBP1_ENST00000431489.1_Missense_Mutation_p.G626V|EHBP1_ENST00000405289.1_Missense_Mutation_p.G626V|EHBP1_ENST00000354487.3_Missense_Mutation_p.G626V|EHBP1_ENST00000405015.3_Missense_Mutation_p.G626V	p.G661V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2464	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		661					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.1982G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855779	0.51376	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.74947	-0.89;-0.89;-0.85;-0.86;-0.86	6.03	5.14	0.70334	.	0.277500	0.36740	N	0.002425	T	0.73009	0.3532	L	0.55481	1.735	0.49389	D	0.999784	B;P;P	0.42375	0.259;0.719;0.778	B;B;B	0.44085	0.406;0.44;0.424	T	0.69540	-0.5118	10	0.13108	T	0.6	.	17.6071	0.88041	0.0:0.1229:0.877:0.0	.	626;626;661	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	V	626;626;661;626;626	ENSP00000384143:G626V;ENSP00000403783:G626V;ENSP00000263991:G661V;ENSP00000346482:G626V;ENSP00000385524:G626V	ENSP00000263991:G661V	G	+	2	0	EHBP1	63029362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.064000	0.49986	1.532000	0.49169	0.655000	0.94253	GGA		0.463	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		16	57	1	0	6.31663e-08	1	6.47164e-08	16	57				
SAFB	6294	broad.mit.edu	37	19	5668276	5668276	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:5668276G>A	ENST00000292123.5	+	21	2829	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N	SAFB_ENST00000592224.1_Missense_Mutation_p.D909N|SAFB_ENST00000588852.1_Missense_Mutation_p.D910N|SAFB_ENST00000433404.1_Missense_Mutation_p.D740N|SAFB_ENST00000454510.1_Missense_Mutation_p.D841N|SAFB_ENST00000538656.1_Missense_Mutation_p.D752N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	908	Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGGCCCAGCGATGCCCGCTT	0.622																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2722-2724)Gat>Aat		scaffold attachment factor B							34.0	38.0	36.0					19																	5668276		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5668276G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2722G>A	19.37:g.5668276G>A	ENSP00000292123:p.Asp908Asn					SAFB_ENST00000433404.1_Missense_Mutation_p.D740N|SAFB_ENST00000592224.1_Missense_Mutation_p.D909N|SAFB_ENST00000538656.1_Missense_Mutation_p.D752N|SAFB_ENST00000454510.1_Missense_Mutation_p.D841N|SAFB_ENST00000588852.1_Missense_Mutation_p.D910N	p.D908N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	21	2829	+			908			Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2722G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378947	0.24944	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11930	2.77;2.92;2.75;2.73	5.25	5.25	0.73442	.	0.127995	0.35235	N	0.003349	T	0.11024	0.0269	L	0.34521	1.04	0.35799	D	0.822987	P;P;P;P;P;P;P	0.51653	0.649;0.947;0.761;0.649;0.649;0.649;0.649	B;B;B;B;B;B;B	0.41571	0.175;0.36;0.225;0.112;0.112;0.112;0.112	T	0.07927	-1.0747	10	0.06236	T	0.91	-21.9966	17.3736	0.87385	0.0:0.0:1.0:0.0	.	709;752;841;907;910;908;909	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	N	841;805;740;908;752	ENSP00000415895:D841N;ENSP00000404545:D740N;ENSP00000292123:D908N;ENSP00000438880:D752N	ENSP00000292123:D908N	D	+	1	0	SAFB	5619276	0.999000	0.42202	0.958000	0.39756	0.146000	0.21551	4.512000	0.60469	2.610000	0.88304	0.585000	0.79938	GAT		0.622	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			23	37	0	0	0	1	0	23	37				
GRIK1	2897	broad.mit.edu	37	21	30927505	30927505	+	Silent	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:30927505T>C	ENST00000399907.1	-	16	2886	c.2475A>G	c.(2473-2475)aaA>aaG	p.K825K	GRIK1_ENST00000309434.7_Silent_p.K827K|GRIK1_ENST00000399913.1_Silent_p.K825K|GRIK1_ENST00000389124.2_Silent_p.K825K|GRIK1_ENST00000399914.1_Silent_p.K810K|GRIK1_ENST00000399909.1_Silent_p.K810K|GRIK1_ENST00000389125.3_Silent_p.K810K|GRIK1_ENST00000327783.4_Silent_p.K825K|GRIK1_ENST00000535441.1_Silent_p.K827K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	825					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CACTGGCTTCTTTGTTGTCTT	0.453																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2428-2430)aaA>aaG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						98.0	101.0	100.0					21																	30927505		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927505T>C		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2475A>G	21.37:g.30927505T>C						GRIK1_ENST00000327783.4_Silent_p.K825K|GRIK1_ENST00000399907.1_Silent_p.K825K|GRIK1_ENST00000389124.2_Silent_p.K825K|GRIK1_ENST00000399909.1_Silent_p.K810K|GRIK1_ENST00000389125.3_Silent_p.K810K|GRIK1_ENST00000309434.7_Silent_p.K827K|GRIK1_ENST00000399913.1_Silent_p.K825K|GRIK1_ENST00000535441.1_Silent_p.K827K	p.K810K			P39086	GRIK1_HUMAN			15	2951	-			825					Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.2430A>G	CCDS42913.1																																																																																				0.453	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			36	117	0	0	0	1	0	36	117				
TRANK1	9881	broad.mit.edu	37	3	36873736	36873736	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:36873736G>A	ENST00000429976.2	-	21	7453	c.7206C>T	c.(7204-7206)atC>atT	p.I2402I	TRANK1_ENST00000301807.6_Silent_p.I1852I|TRANK1_ENST00000428977.2_Silent_p.I1852I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2402							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAATGCTGGGGATGAGTGGTT	0.502																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5554-5556)atC>atT		tetratricopeptide repeat and ankyrin repeat containing 1							117.0	124.0	122.0					3																	36873736		1908	4143	6051	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873736G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7206C>T	3.37:g.36873736G>A						TRANK1_ENST00000428977.2_Silent_p.I1852I|TRANK1_ENST00000429976.2_Silent_p.I2402I	p.I1852I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7453	-			2402					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.5556C>T	CCDS46789.2																																																																																				0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		74	62	0	0	0	1	0	74	62				
ASNS	440	broad.mit.edu	37	7	97482676	97482676	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:97482676G>C	ENST00000394309.3	-	11	1732	c.1261C>G	c.(1261-1263)Cta>Gta	p.L421V	ASNS_ENST00000422745.1_Missense_Mutation_p.L400V|ASNS_ENST00000394308.3_Missense_Mutation_p.L421V|ASNS_ENST00000175506.4_Missense_Mutation_p.L421V|ASNS_ENST00000444334.1_Missense_Mutation_p.L400V|ASNS_ENST00000455086.1_Missense_Mutation_p.L338V|ASNS_ENST00000437628.1_Missense_Mutation_p.L338V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	421	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGATGATCTAGAAATGGGACT	0.378																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(1261-1263)Cta>Gta		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						63.0	65.0	64.0					7																	97482676		2202	4300	6502	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97482676G>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1261C>G	7.37:g.97482676G>C	ENSP00000377846:p.Leu421Val					ASNS_ENST00000394308.3_Missense_Mutation_p.L421V|ASNS_ENST00000437628.1_Missense_Mutation_p.L338V|ASNS_ENST00000394309.3_Missense_Mutation_p.L421V|ASNS_ENST00000444334.1_Missense_Mutation_p.L400V|ASNS_ENST00000422745.1_Missense_Mutation_p.L400V|ASNS_ENST00000455086.1_Missense_Mutation_p.L338V	p.L421V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			12	1789	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		421			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1261C>G	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017008	0.54576	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17	3.81	2.01	0.26516	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.64402	D	0.000001	T	0.77003	0.4067	M	0.93594	3.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.75725	-0.3217	10	0.87932	D	0	-10.4332	5.6624	0.17676	0.3353:0.0:0.6647:0.0	.	421	P08243	ASNS_HUMAN	V	421;421;338;421;400;338;400	ENSP00000175506:L421V;ENSP00000377846:L421V;ENSP00000414379:L338V;ENSP00000377845:L421V;ENSP00000414901:L400V;ENSP00000408472:L338V;ENSP00000406994:L400V	ENSP00000175506:L421V	L	-	1	2	ASNS	97320612	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	0.953000	0.29162	0.593000	0.29745	0.561000	0.74099	CTA		0.378	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		36	93	0	0	0	1	0	36	93				
ZNF682	91120	broad.mit.edu	37	19	20135093	20135093	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:20135093C>T	ENST00000397165.2	-	2	256	c.96G>A	c.(94-96)gtG>gtA	p.V32V	ZNF682_ENST00000397162.1_5'UTR|AC006539.1_ENST00000578235.1_RNA|ZNF682_ENST00000593468.1_Silent_p.V32V|ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000597972.1_Silent_p.V38V|ZNF682_ENST00000596019.1_Silent_p.V32V	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTCTAGCATCACTTTCCTAT	0.393																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(94-96)gtG>gtA		zinc finger protein 682							78.0	85.0	83.0					19																	20135093		2193	4300	6493	SO:0001819	synonymous_variant	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20135093C>T	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.96G>A	19.37:g.20135093C>T						ZNF682_ENST00000593468.1_Silent_p.V32V|ZNF682_ENST00000397162.1_5'UTR|ZNF682_ENST00000596019.1_Silent_p.V32V|ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000597972.1_Silent_p.V38V|ZNF682_ENST00000595736.1_Intron	p.V32V	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			2	256	-			32			KRAB.		B3KU64|E9PFJ5|Q96JV9	Silent	SNP	ENST00000397165.2	37	c.96G>A	CCDS42533.1																																																																																				0.393	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		46	100	0	0	0	1	0	46	100				
TMEM87B	84910	broad.mit.edu	37	2	112865405	112865405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:112865405C>A	ENST00000283206.4	+	17	1934	c.1565C>A	c.(1564-1566)tCa>tAa	p.S522*		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	522						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCCCTCTTCATTCACAGAT	0.318																																						ENST00000283206.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.(1564-1566)tCa>tAa		transmembrane protein 87B							105.0	103.0	104.0					2																	112865405		2202	4300	6502	SO:0001587	stop_gained	84910					integral to membrane		g.chr2:112865405C>A	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1565C>A	2.37:g.112865405C>A	ENSP00000283206:p.Ser522*						p.S522*	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN			17	1934	+			522					A8K2M9|Q1RLN2|Q53R54	Nonsense_Mutation	SNP	ENST00000283206.4	37	c.1565C>A	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	C	41	8.887207	0.98990	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.54	5.54	0.83059	.	0.061993	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3004	16.9795	0.86323	0.0:1.0:0.0:0.0	.	.	.	.	X	522	.	ENSP00000283206:S522X	S	+	2	0	TMEM87B	112581876	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.495000	0.73665	2.601000	0.87937	0.460000	0.39030	TCA		0.318	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		40	79	1	0	6.2361e-21	1	6.54987e-21	40	79				
ODF2	4957	broad.mit.edu	37	9	131235288	131235288	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:131235288G>A	ENST00000434106.3	+	7	1041	c.678G>A	c.(676-678)atG>atA	p.M226I	ODF2_ENST00000444119.2_Missense_Mutation_p.M202I|ODF2_ENST00000604420.1_Missense_Mutation_p.M226I|ODF2_ENST00000372791.3_Missense_Mutation_p.M207I|ODF2_ENST00000372807.5_Missense_Mutation_p.M221I|ODF2_ENST00000448249.3_Missense_Mutation_p.M145I|ODF2_ENST00000535026.1_Missense_Mutation_p.G111S|ODF2_ENST00000393533.2_Missense_Mutation_p.M226I|ODF2_ENST00000372814.3_Missense_Mutation_p.M270I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393527.3_Missense_Mutation_p.M202I|ODF2_ENST00000546203.1_Missense_Mutation_p.M207I|ODF2_ENST00000351030.3_Missense_Mutation_p.M221I	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	226					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGCAGGTCATGGCCTTGAAGG	0.602																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(604-606)atG>atA		outer dense fiber of sperm tails 2							81.0	67.0	72.0					9																	131235288		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131235288G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.678G>A	9.37:g.131235288G>A	ENSP00000403453:p.Met226Ile					ODF2_ENST00000372796.4_Missense_Mutation_p.M226I|ODF2_ENST00000393533.2_Missense_Mutation_p.M226I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.M207I|ODF2_ENST00000351030.3_Missense_Mutation_p.M221I|ODF2_ENST00000448249.3_Missense_Mutation_p.M145I|ODF2_ENST00000372791.3_Missense_Mutation_p.M207I|ODF2_ENST00000372814.3_Missense_Mutation_p.M270I|ODF2_ENST00000535026.1_Missense_Mutation_p.G111S|ODF2_ENST00000434106.2_Missense_Mutation_p.M226I|ODF2_ENST00000372807.5_Missense_Mutation_p.M221I|ODF2_ENST00000444119.2_Missense_Mutation_p.M202I	p.M202I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			9	1191	+			226					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.606G>A	CCDS56588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.35|13.35	2.212247|2.212247	0.39102|0.39102	.|.	.|.	ENSG00000136811|ENSG00000136811	ENST00000535026|ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000546203;ENST00000432065;ENST00000372791	.|T;T;T;T;T;T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.98;1.01;1.98;1.01;2.34;1.01	5.69|5.69	4.74|4.74	0.60224|0.60224	.|.	.|0.386832	.|0.32028	.|N	.|0.006693	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.29908|0.29908	0.895|0.895	0.24973|0.24973	N|N	0.99165|0.99165	.|B;B;B;B;B;B;B;B;B;B	.|0.21225	.|0.053;0.01;0.018;0.008;0.003;0.007;0.01;0.053;0.023;0.018	.|B;B;B;B;B;B;B;B;B;B	.|0.20384	.|0.011;0.005;0.002;0.003;0.004;0.007;0.003;0.011;0.029;0.005	T|T	0.10291|0.10291	-1.0636|-1.0636	6|10	0.87932|0.42905	D|T;T	0|0.14;0.14	-28.4285|-28.4285	8.8438|8.8438	0.35157|0.35157	0.0:0.1613:0.6716:0.1671|0.0:0.1613:0.6716:0.1671	.|.	.|207;221;145;160;226;270;221;207;226;202	.|Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.|.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	S|I	111|226;270;221;226;202;145;145;202;207;150;207	.|ENSP00000377166:M226I;ENSP00000361901:M270I;ENSP00000342581:M221I;ENSP00000361882:M226I;ENSP00000307781:M202I;ENSP00000396687:M145I;ENSP00000394506:M202I;ENSP00000437579:M207I;ENSP00000407852:M150I;ENSP00000361877:M207I	ENSP00000443178:G111S|ENSP00000307781:M202I;ENSP00000307781:M202I	G|M	+|+	1|3	0|0	ODF2|ODF2	130275109|130275109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.659000|0.659000	0.38960|0.38960	3.249000|3.249000	0.51437|0.51437	2.692000|2.692000	0.91855|0.91855	0.555000|0.555000	0.69702|0.69702	GGC|ATG		0.602	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			14	43	0	0	0	1	0	14	43				
ODF2	4957	broad.mit.edu	37	9	131254734	131254734	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:131254734C>G	ENST00000434106.3	+	15	1929	c.1566C>G	c.(1564-1566)ctC>ctG	p.L522L	ODF2_ENST00000444119.2_Silent_p.L498L|ODF2_ENST00000604420.1_Silent_p.L522L|ODF2_ENST00000372791.3_Silent_p.L503L|ODF2_ENST00000372807.5_Silent_p.L517L|ODF2_ENST00000448249.3_Silent_p.L441L|ODF2_ENST00000393533.2_Silent_p.L522L|ODF2_ENST00000372814.3_Silent_p.L566L|ODF2_ENST00000393527.3_Silent_p.L498L|ODF2_ENST00000546203.1_Silent_p.L503L|ODF2_ENST00000351030.3_Silent_p.L517L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	522					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGACAAACTCAACCAGGCAC	0.542																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1492-1494)ctC>ctG		outer dense fiber of sperm tails 2							91.0	86.0	87.0					9																	131254734		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131254734C>G	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1566C>G	9.37:g.131254734C>G						ODF2_ENST00000372796.4_Silent_p.L522L|ODF2_ENST00000393533.2_Silent_p.L522L|ODF2_ENST00000546203.1_Silent_p.L503L|ODF2_ENST00000351030.3_Silent_p.L517L|ODF2_ENST00000448249.3_Silent_p.L441L|ODF2_ENST00000372791.3_Silent_p.L503L|ODF2_ENST00000372814.3_Silent_p.L566L|ODF2_ENST00000434106.2_Silent_p.L522L|ODF2_ENST00000372807.5_Silent_p.L517L|ODF2_ENST00000444119.2_Silent_p.L498L	p.L498L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			17	2079	+			522					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.1494C>G	CCDS56588.1																																																																																				0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			15	43	0	0	0	1	0	15	43				
RSPO1	284654	broad.mit.edu	37	1	38079858	38079858	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38079858G>A	ENST00000401069.1	-	5	1146	c.434C>T	c.(433-435)cCt>cTt	p.P145L	RSPO1_ENST00000401068.1_Missense_Mutation_p.P145L|RSPO1_ENST00000356545.2_Missense_Mutation_p.P145L|RSPO1_ENST00000401071.2_Missense_Mutation_p.P145L|RSPO1_ENST00000373059.1_Missense_Mutation_p.P118L|RSPO1_ENST00000401070.1_Missense_Mutation_p.P145L	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	145					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTTACCAGGACTACTGCA	0.632																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(433-435)cCt>cTt		R-spondin 1							32.0	34.0	34.0					1																	38079858		1984	4161	6145	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079858G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.434C>T	1.37:g.38079858G>A	ENSP00000383847:p.Pro145Leu					RSPO1_ENST00000401070.1_Missense_Mutation_p.P145L|RSPO1_ENST00000401071.2_Missense_Mutation_p.P145L|RSPO1_ENST00000401068.1_Missense_Mutation_p.P145L|RSPO1_ENST00000401069.1_Missense_Mutation_p.P145L|RSPO1_ENST00000373059.1_Missense_Mutation_p.P118L	p.P145L	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			6	1221	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	145					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.434C>T	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562520	0.86335	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;D;T;D;T;T	0.85484	-1.12;-1.99;-1.12;-1.99;-1.12;-1.12	4.77	4.77	0.60923	Growth factor, receptor (1);	0.125568	0.56097	D	0.000032	D	0.87192	0.6116	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;D;P	0.87578	0.998;0.923;0.84	T	0.81899	-0.0721	10	0.08381	T	0.77	.	16.8591	0.86013	0.0:0.0:1.0:0.0	.	145;118;145	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	L	118;145;145;145;145;145	ENSP00000362150:P118L;ENSP00000383848:P145L;ENSP00000348944:P145L;ENSP00000383849:P145L;ENSP00000383847:P145L;ENSP00000383846:P145L	ENSP00000348944:P145L	P	-	2	0	RSPO1	37852445	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.156000	0.64905	2.578000	0.87016	0.655000	0.94253	CCT		0.632	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		12	16	0	0	0	1	0	12	16				
ZBTB1	22890	broad.mit.edu	37	14	64988277	64988277	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:64988277G>C	ENST00000554015.1	+	4	486	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E19Q|ZBTB1_ENST00000358738.3_Missense_Mutation_p.E19Q			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	19					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAACCAAAGAGAATGGGGTTT	0.393																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(55-57)Gaa>Caa		zinc finger and BTB domain containing 1							101.0	96.0	98.0					14																	64988277		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988277G>C	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.55G>C	14.37:g.64988277G>C	ENSP00000451000:p.Glu19Gln					ZBTB1_ENST00000554015.1_Missense_Mutation_p.E19Q|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E19Q|RP11-973N13.4_ENST00000554918.1_RNA	p.E19Q	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	446	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	19					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.55G>C	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474386	0.96291	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712;ENST00000555321	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;1.91	5.92	5.92	0.95590	BTB/POZ (1);BTB/POZ fold (2);	0.171320	0.40554	N	0.001064	T	0.75946	0.3919	L	0.28400	0.85	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.77381	-0.2609	10	0.87932	D	0	-24.3536	20.3343	0.98733	0.0:0.0:1.0:0.0	.	19;19	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	Q	19	ENSP00000451584:E19Q;ENSP00000450689:E19Q;ENSP00000451000:E19Q;ENSP00000351587:E19Q;ENSP00000378201:E19Q;ENSP00000451332:E19Q	ENSP00000351587:E19Q	E	+	1	0	ZBTB1	64058030	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GAA		0.393	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			55	105	0	0	0	1	0	55	105				
SP100	6672	broad.mit.edu	37	2	231314967	231314967	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:231314967G>C	ENST00000264052.5	+	8	1172	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	SP100_ENST00000341950.4_Missense_Mutation_p.E273Q|SP100_ENST00000427101.2_Missense_Mutation_p.E248Q|SP100_ENST00000409824.1_Missense_Mutation_p.E248Q|SP100_ENST00000409897.1_Missense_Mutation_p.E238Q|SP100_ENST00000340126.4_Missense_Mutation_p.E273Q|SP100_ENST00000409112.1_Missense_Mutation_p.E273Q|SP100_ENST00000409341.1_Missense_Mutation_p.E273Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	273					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGTGATGAAGAAAGTAATTA	0.428																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(817-819)Gaa>Caa		SP100 nuclear antigen							200.0	185.0	190.0					2																	231314967		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231314967G>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.817G>C	2.37:g.231314967G>C	ENSP00000264052:p.Glu273Gln					SP100_ENST00000340126.4_Missense_Mutation_p.E273Q|SP100_ENST00000409897.1_Missense_Mutation_p.E238Q|SP100_ENST00000409112.1_Missense_Mutation_p.E273Q|SP100_ENST00000409341.1_Missense_Mutation_p.E273Q|SP100_ENST00000409824.1_Missense_Mutation_p.E248Q|SP100_ENST00000427101.2_Missense_Mutation_p.E248Q|SP100_ENST00000341950.4_Missense_Mutation_p.E273Q	p.E273Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	1172	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	273					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.817G>C	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956508	0.34565	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;D;T;T;T	0.81821	2.11;1.99;1.99;1.98;-1.54;0.04;1.97;1.99	3.99	-0.193	0.13244	.	1.305430	0.05755	N	0.603811	T	0.68026	0.2956	N	0.24115	0.695	0.09310	N	1	P;B;B;P;P;P;B;P	0.50528	0.867;0.416;0.416;0.551;0.936;0.59;0.416;0.867	B;B;B;B;B;B;B;B	0.42462	0.361;0.092;0.092;0.189;0.388;0.159;0.092;0.361	T	0.60084	-0.7332	10	0.72032	D	0.01	.	4.493	0.11822	0.2309:0.3967:0.3723:0.0	.	248;273;238;273;273;273;248;273	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	Q	273;248;248;273;273;273;273;238	ENSP00000264052:E273Q;ENSP00000399389:E248Q;ENSP00000387311:E248Q;ENSP00000386404:E273Q;ENSP00000386427:E273Q;ENSP00000343023:E273Q;ENSP00000342729:E273Q;ENSP00000386998:E238Q	ENSP00000264052:E273Q	E	+	1	0	SP100	231023211	0.003000	0.15002	0.009000	0.14445	0.026000	0.11368	-0.767000	0.04720	-0.042000	0.13535	-0.219000	0.12488	GAA		0.428	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		31	73	0	0	0	1	0	31	73				
COL18A1	80781	broad.mit.edu	37	21	46888526	46888526	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:46888526C>T	ENST00000359759.4	+	2	1743	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V	COL18A1_ENST00000355480.5_Silent_p.V339V|COL18A1_ENST00000400337.2_Silent_p.V159V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	574	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGCCTTCGTCGGCCAGTGGA	0.637																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1720-1722)gtC>gtT		collagen, type XVIII, alpha 1							54.0	67.0	63.0					21																	46888526		2089	4208	6297	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888526C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1722C>T	21.37:g.46888526C>T						COL18A1_ENST00000400337.2_Silent_p.V159V|COL18A1_ENST00000355480.5_Silent_p.V339V	p.V574V			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1743	+			574			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1722C>T																																																																																					0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			39	80	0	0	0	1	0	39	80				
SLA	6503	broad.mit.edu	37	8	134050925	134050925	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:134050925G>A	ENST00000338087.5	-	9	1494	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLA_ENST00000427060.2_Silent_p.F265F|SLA_ENST00000395352.3_Silent_p.F242F|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Silent_p.F117F|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Silent_p.F198F	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	225	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCCATAGCTGAAAAGGGACT	0.512																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(673-675)ttC>ttT		Src-like-adaptor							120.0	106.0	111.0					8																	134050925		2203	4300	6503	SO:0001819	synonymous_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050925G>A		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.675C>T	8.37:g.134050925G>A						TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Silent_p.F117F|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Silent_p.F242F|SLA_ENST00000427060.2_Silent_p.F265F|SLA_ENST00000517648.1_Silent_p.F198F|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron	p.F225F	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1494	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	225			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Silent	SNP	ENST00000338087.5	37	c.675C>T	CCDS6370.1																																																																																				0.512	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			21	100	0	0	0	1	0	21	100				
IGHV4-34	28395	broad.mit.edu	37	14	106829689	106829689	+	RNA	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106829689G>C	ENST00000390616.2	-	0	304									immunoglobulin heavy variable 4-34																		ATGGTGACTCGACTCTTGAGG	0.567																																						ENST00000390616.2																			0																				141.0	143.0	143.0					14																	106829689		1942	4138	6080			28395							g.chr14:106829689G>C	X92278		14q32.33	2012-02-08			ENSG00000211956	ENSG00000211956		"""Immunoglobulins / IGH locus"""	5650	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152074		14.37:g.106829689G>C														0	304	-									RNA	SNP	ENST00000390616.2	37																																																																																						0.567	IGHV4-34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325168.1	NG_001019		8	374	0	0	0	1	0	8	374				
VPS13A	23230	broad.mit.edu	37	9	79934542	79934542	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:79934542G>A	ENST00000360280.3	+	42	5628	c.5368G>A	c.(5368-5370)Gaa>Aaa	p.E1790K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E1751K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1790K|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.E1790K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1790					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAACCCTTAGAAATTGATCA	0.294																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(5368-5370)Gaa>Aaa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							77.0	80.0	79.0					9																	79934542		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79934542G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5368G>A	9.37:g.79934542G>A	ENSP00000353422:p.Glu1790Lys					VPS13A_ENST00000376634.4_Missense_Mutation_p.E1790K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1751K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1790K|VPS13A_ENST00000423463.2_3'UTR	p.E1790K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			42	5628	+			1790					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5368G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424836	0.96111	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.65	5.65	0.86999	.	0.179016	0.32518	N	0.005981	T	0.33147	0.0853	L	0.43152	1.355	0.80722	D	1	P;D;P;D;D	0.65815	0.954;0.991;0.924;0.995;0.995	P;P;P;P;P	0.60415	0.765;0.874;0.464;0.841;0.841	T	0.00492	-1.1707	10	0.42905	T	0.14	.	19.7179	0.96131	0.0:0.0:1.0:0.0	.	42;1751;1790;1790;1790	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;.;VP13A_HUMAN;.;.	K	1790;1751;1790;1790	ENSP00000365821:E1790K;ENSP00000365823:E1751K;ENSP00000353422:E1790K;ENSP00000349985:E1790K	ENSP00000349985:E1790K	E	+	1	0	VPS13A	79124362	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.920000	0.92779	2.651000	0.90000	0.650000	0.86243	GAA		0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		26	57	0	0	0	1	0	26	57				
HIST1H2AJ	8331	broad.mit.edu	37	6	27782155	27782155	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:27782155C>T	ENST00000333151.3	-	1	452	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						TGGTGGCTCTCAGTTTTCTTT	0.493																																						ENST00000333151.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						c.(364-366)Gag>Aag		histone cluster 1, H2aj							134.0	143.0	140.0					6																	27782155		2203	4300	6503	SO:0001583	missense	8331				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782155C>T	Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"""Histones / Replication-dependent"""	4727	protein-coding gene	gene with protein product		602791	"""H2A histone family, member E"", ""histone 1, H2aj"""	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.364G>A	6.37:g.27782155C>T	ENSP00000328484:p.Glu122Lys						p.E122K	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN			1	452	-			122					A2RUU6|Q5JXQ5	Missense_Mutation	SNP	ENST00000333151.3	37	c.364G>A	CCDS4628.1	.	.	.	.	.	.	.	.	.	.	.	9.273	1.046100	0.19748	.	.	ENSG00000182611	ENST00000333151	D	0.90261	-2.64	4.15	3.26	0.37387	Histone-fold (2);Histone H2A (1);	0.000000	0.32687	U	0.005779	T	0.61640	0.2363	N	0.01631	-0.79	0.30149	N	0.803205	B	0.02656	0.0	B	0.04013	0.001	T	0.56269	-0.8007	10	0.44086	T	0.13	.	13.2099	0.59819	0.161:0.839:0.0:0.0	.	122	Q99878	H2A1J_HUMAN	K	122	ENSP00000328484:E122K	ENSP00000328484:E122K	E	-	1	0	HIST1H2AJ	27890134	0.997000	0.39634	0.997000	0.53966	0.203000	0.24098	3.580000	0.53907	1.295000	0.44724	0.655000	0.94253	GAG		0.493	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040154.1	NM_021066		78	177	0	0	0	1	0	78	177				
NUDT12	83594	broad.mit.edu	37	5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:102895751C>G	ENST00000230792.2	-	2	295	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	67					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(199-201)Gag>Cag		nudix (nucleoside diphosphate linked moiety X)-type motif 12							108.0	103.0	104.0					5																	102895751		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102895751C>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.199G>C	5.37:g.102895751C>G	ENSP00000230792:p.Glu67Gln					NUDT12_ENST00000507423.1_Intron	p.E67Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	2	295	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	67					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.199G>C	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676933	0.47886	.	.	ENSG00000112874	ENST00000230792	T	0.67345	-0.26	5.9	5.9	0.94986	Ankyrin repeat-containing domain (4);	0.278431	0.39210	N	0.001440	T	0.54062	0.1835	N	0.16368	0.405	0.80722	D	1	B	0.24920	0.114	B	0.26416	0.069	T	0.49753	-0.8906	10	0.38643	T	0.18	-4.2576	17.1924	0.86883	0.0:0.8744:0.1256:0.0	.	67	Q9BQG2	NUD12_HUMAN	Q	67	ENSP00000230792:E67Q	ENSP00000230792:E67Q	E	-	1	0	NUDT12	102923650	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.749000	0.55150	2.788000	0.95919	0.650000	0.86243	GAG		0.363	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		28	73	0	0	0	1	0	28	73				
FAM120C	54954	broad.mit.edu	37	X	54099678	54099678	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:54099678C>A	ENST00000375180.2	-	16	3135	c.3079G>T	c.(3079-3081)Ggt>Tgt	p.G1027C	FAM120C_ENST00000328235.4_Missense_Mutation_p.K889N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1027							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CGAGACCGACCTTGATGAAGC	0.483																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(3079-3081)Ggt>Tgt		family with sequence similarity 120C							94.0	75.0	82.0					X																	54099678		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54099678C>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3079G>T	X.37:g.54099678C>A	ENSP00000364324:p.Gly1027Cys					FAM120C_ENST00000328235.4_Missense_Mutation_p.K889N	p.G1027C	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			16	3135	-			1027					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.3079G>T	CCDS14356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.20|11.20	1.568509|1.568509	0.28003|0.28003	.|.	.|.	ENSG00000184083|ENSG00000184083	ENST00000375180|ENST00000328235	T|T	0.28666|0.33654	1.6|1.4	5.08|5.08	-1.68|-1.68	0.08212|0.08212	.|.	0.736460|.	0.12958|.	N|.	0.425232|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.29432|0.29432	N|N	0.859765|0.859765	D|B	0.61697|0.02656	0.99|0.0	P|B	0.58970|0.06405	0.849|0.002	T|T	0.18840|0.18840	-1.0324|-1.0324	10|9	0.72032|0.87932	D|D	0.01|0	-1.6201|-1.6201	6.2671|6.2671	0.20932|0.20932	0.1479:0.2103:0.0:0.6418|0.1479:0.2103:0.0:0.6418	.|.	1027|889	Q9NX05|F8W881	F120C_HUMAN|.	C|N	1027|889	ENSP00000364324:G1027C|ENSP00000329896:K889N	ENSP00000364324:G1027C|ENSP00000329896:K889N	G|K	-|-	1|3	0|2	FAM120C|FAM120C	54116403|54116403	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.015000|0.015000	0.08874|0.08874	-0.221000|-0.221000	0.09202|0.09202	-0.143000|-0.143000	0.11334|0.11334	-0.208000|-0.208000	0.12717|0.12717	GGT|AAG		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		19	22	1	0	5.3912e-06	1	5.501e-06	19	22				
SPG7	6687	broad.mit.edu	37	16	89579436	89579436	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:89579436G>A	ENST00000268704.2	+	3	382	c.367G>A	c.(367-369)Gag>Aag	p.E123K	SPG7_ENST00000341316.2_Missense_Mutation_p.E123K	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	123					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ggCGCCTGAAGAGGACGAAGG	0.418																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(367-369)Gag>Aag		spastic paraplegia 7 (pure and complicated autosomal recessive)							116.0	106.0	109.0					16																	89579436		2197	4299	6496	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89579436G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.367G>A	16.37:g.89579436G>A	ENSP00000268704:p.Glu123Lys					SPG7_ENST00000341316.2_Missense_Mutation_p.E123K	p.E123K	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	3	382	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	123					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.367G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980842	0.18812	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.93547	-3.05;-3.24	4.6	3.64	0.41730	Peptidase M41, FtsH (1);	0.108534	0.64402	D	0.000009	D	0.85383	0.5684	L	0.27053	0.805	0.35520	D	0.80135	B;B	0.24823	0.094;0.112	B;B	0.19148	0.024;0.019	T	0.80621	-0.1301	10	0.14656	T	0.56	-0.3454	8.7447	0.34578	0.1063:0.0:0.8937:0.0	.	123;123	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	K	123	ENSP00000268704:E123K;ENSP00000341157:E123K	ENSP00000268704:E123K	E	+	1	0	SPG7	88106937	1.000000	0.71417	0.478000	0.27316	0.002000	0.02628	2.629000	0.46485	1.058000	0.40530	0.591000	0.81541	GAG		0.418	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		6	14	0	0	0	1	0	6	14				
OR5B12	390191	broad.mit.edu	37	11	58207325	58207325	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:58207325G>A	ENST00000302572.2	-	1	321	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTACAAAGAAGAAGAATTGTG	0.448																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(298-300)ttC>ttT		olfactory receptor, family 5, subfamily B, member 12							89.0	83.0	85.0					11																	58207325		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207325G>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.300C>T	11.37:g.58207325G>A							p.F100F	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	321	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	100					B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.300C>T	CCDS31551.1																																																																																				0.448	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		33	85	0	0	0	1	0	33	85				
RAB11FIP5	26056	broad.mit.edu	37	2	73339681	73339681	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:73339681G>C	ENST00000258098.6	-	1	465	c.225C>G	c.(223-225)ttC>ttG	p.F75L	RP11-44N22.3_ENST00000608612.1_RNA	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	75	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCGGCAGCTCGAAGGAGCACT	0.746																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(223-225)ttC>ttG		RAB11 family interacting protein 5 (class I)							14.0	11.0	12.0					2																	73339681		2193	4271	6464	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73339681G>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.225C>G	2.37:g.73339681G>C	ENSP00000258098:p.Phe75Leu						p.F75L	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			1	465	-			75			C2.		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.225C>G	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257786	0.80246	.	.	ENSG00000135631	ENST00000258098	T	0.77358	-1.09	3.74	2.85	0.33270	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	T	0.80003	0.4544	L	0.39566	1.225	0.48696	D	0.99969	D	0.76494	0.999	D	0.85130	0.997	T	0.75342	-0.3351	10	0.28530	T	0.3	-12.9663	9.2954	0.37813	0.1093:0.0:0.8907:0.0	.	75	Q9BXF6	RFIP5_HUMAN	L	75	ENSP00000258098:F75L	ENSP00000258098:F75L	F	-	3	2	RAB11FIP5	73193189	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.206000	0.42779	0.912000	0.36772	0.561000	0.74099	TTC		0.746	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		6	14	0	0	0	1	0	6	14				
BHMT2	23743	broad.mit.edu	37	5	78379463	78379463	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:78379463G>C	ENST00000255192.3	+	7	860	c.794G>C	c.(793-795)aGa>aCa	p.R265T	BHMT2_ENST00000521567.1_Missense_Mutation_p.R201T|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	265	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CTGGAGTCCAGAGTTGCCACC	0.438																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(793-795)aGa>aCa		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						61.0	60.0	60.0					5																	78379463		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78379463G>C		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.794G>C	5.37:g.78379463G>C	ENSP00000255192:p.Arg265Thr					BHMT2_ENST00000521567.1_Missense_Mutation_p.R201T|DMGDH_ENST00000520388.1_Intron	p.R265T	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	7	860	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	265			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.794G>C	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890653	0.72524	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.11930	2.73;2.73	5.22	4.35	0.52113	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.89904	3.07	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79784	0.967;0.993	T	0.53012	-0.8498	10	0.56958	D	0.05	-19.1909	13.5403	0.61671	0.075:0.0:0.925:0.0	.	201;265	B7Z516;Q9H2M3	.;BHMT2_HUMAN	T	265;201	ENSP00000255192:R265T;ENSP00000430278:R201T	ENSP00000255192:R265T	R	+	2	0	BHMT2	78415219	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	7.722000	0.84778	1.197000	0.43143	0.655000	0.94253	AGA		0.438	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		19	51	0	0	0	1	0	19	51				
AK4	205	broad.mit.edu	37	1	65691754	65691754	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:65691754G>A	ENST00000327299.7	+	5	771	c.566G>A	c.(565-567)gGa>gAa	p.G189E	AK4_ENST00000546702.1_Missense_Mutation_p.G137E|AK4_ENST00000545314.1_Missense_Mutation_p.G189E|AK4_ENST00000395334.2_Missense_Mutation_p.G189E	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						AGGAGCCGAGGAGTGCTCCAC	0.418																																						ENST00000395334.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						c.(565-567)gGa>gAa		adenylate kinase 4							56.0	52.0	53.0					1																	65691754		2203	4300	6503	SO:0001583	missense	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65691754G>A	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.566G>A	1.37:g.65691754G>A	ENSP00000322175:p.Gly189Glu					AK4_ENST00000546702.1_Missense_Mutation_p.G137E|AK4_ENST00000327299.7_Missense_Mutation_p.G189E|AK4_ENST00000545314.1_Missense_Mutation_p.G189E	p.G189E	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN			6	924	+			189						Missense_Mutation	SNP	ENST00000327299.7	37	c.566G>A	CCDS629.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118230	0.94385	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86037	0.1517	10	0.87932	D	0	-26.7891	18.5455	0.91044	0.0:0.0:1.0:0.0	.	189	P27144	KAD4_HUMAN	E	189;137;189;189	ENSP00000445912:G189E;ENSP00000448458:G137E;ENSP00000378743:G189E;ENSP00000322175:G189E	ENSP00000322175:G189E	G	+	2	0	AK4	65464342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.820000	0.92003	2.713000	0.92767	0.655000	0.94253	GGA		0.418	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410		20	23	0	0	0	1	0	20	23				
RCE1	9986	broad.mit.edu	37	11	66611085	66611085	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:66611085C>G	ENST00000309657.3	+	1	203	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_Silent_p.L53L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	53					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGGGCAGCCTCTACGTCTGGA	0.746																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(157-159)ctC>ctG		Ras converting CAAX endopeptidase 1							6.0	7.0	7.0					11																	66611085		1860	3786	5646	SO:0001819	synonymous_variant	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66611085C>G	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.159C>G	11.37:g.66611085C>G						RCE1_ENST00000524506.1_Silent_p.L53L	p.L53L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			1	203	+			53					Q52LZ9	Silent	SNP	ENST00000309657.3	37	c.159C>G	CCDS8151.1																																																																																				0.746	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		13	13	0	0	0	1	0	13	13				
WASF3	10810	broad.mit.edu	37	13	27241766	27241766	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:27241766G>C	ENST00000335327.5	+	5	559	c.381G>C	c.(379-381)caG>caC	p.Q127H	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.Q127H	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	127					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTTACAACCAGAGTGATAAGC	0.458																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(379-381)caG>caC		WAS protein family, member 3							89.0	83.0	85.0					13																	27241766		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27241766G>C	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.381G>C	13.37:g.27241766G>C	ENSP00000335055:p.Gln127His					WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.Q127H	p.Q127H			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	5	606	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	127					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.381G>C	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076914	0.55753	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.66280	-0.2;-0.2	5.18	5.18	0.71444	.	0.188403	0.49305	D	0.000147	T	0.59280	0.2182	L	0.35854	1.095	0.36732	D	0.881752	P;P	0.41366	0.747;0.582	P;B	0.45913	0.497;0.308	T	0.66740	-0.5847	10	0.45353	T	0.12	-24.6218	13.9799	0.64299	0.075:0.0:0.925:0.0	.	127;127	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	H	127	ENSP00000354325:Q127H;ENSP00000335055:Q127H	ENSP00000335055:Q127H	Q	+	3	2	WASF3	26139766	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.238000	0.43070	2.413000	0.81919	0.655000	0.94253	CAG		0.458	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			45	123	0	0	0	1	0	45	123				
OBSCN	84033	broad.mit.edu	37	1	228465551	228465551	+	Missense_Mutation	SNP	G	G	C	rs541390050		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:228465551G>C	ENST00000422127.1	+	25	6895	c.6851G>C	c.(6850-6852)cGa>cCa	p.R2284P	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2713P|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2284P|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1131P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2284					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGCTCCGAGTGAAGGGT	0.627																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8137-8139)cGa>cCa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45.0	46.0	46.0					1																	228465551		1888	4101	5989	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228465551G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6851G>C	1.37:g.228465551G>C	ENSP00000409493:p.Arg2284Pro					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2284P|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1131P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2284P	p.R2713P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			30	8212	+		Prostate(94;0.0405)	1710			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8138G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628262	0.28978	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.04758	3.56;3.56;3.56	4.28	1.11	0.20524	.	0.422636	0.19583	N	0.110813	T	0.09774	0.0240	L	0.50333	1.59	0.18873	N	0.999988	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.974	T	0.26538	-1.0100	10	0.30854	T	0.27	.	0.329	0.00315	0.2521:0.1579:0.3074:0.2826	.	2284;2284	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	P	2284;2284;1131	ENSP00000284548:R2284P;ENSP00000409493:R2284P;ENSP00000352613:R1131P	ENSP00000284548:R2284P	R	+	2	0	OBSCN	226532174	0.918000	0.31147	0.997000	0.53966	0.674000	0.39518	0.516000	0.22817	0.439000	0.26476	0.313000	0.20887	CGA		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		33	55	0	0	0	1	0	33	55				
USP9X	8239	broad.mit.edu	37	X	41056744	41056744	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:41056744G>C	ENST00000324545.8	+	29	4994	c.4361G>C	c.(4360-4362)gGa>gCa	p.G1454A	USP9X_ENST00000378308.2_Missense_Mutation_p.G1454A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1454					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGTGAAAAAGGAGGTGCTAAT	0.333																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4360-4362)gGa>gCa		ubiquitin specific peptidase 9, X-linked							74.0	74.0	74.0					X																	41056744		2053	4199	6252	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41056744G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4361G>C	X.37:g.41056744G>C	ENSP00000316357:p.Gly1454Ala					USP9X_ENST00000378308.2_Missense_Mutation_p.G1454A	p.G1454A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			29	4994	+			1454					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4361G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404702	0.62288	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02837	4.14;4.15	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.04724	0.0128	L	0.60455	1.87	0.80722	D	1	B;B	0.24721	0.11;0.067	B;B	0.27715	0.082;0.025	T	0.29397	-1.0013	10	0.06365	T	0.9	.	18.2067	0.89857	0.0:0.0:1.0:0.0	.	1454;1454	Q93008-1;Q93008	.;USP9X_HUMAN	A	1454	ENSP00000367558:G1454A;ENSP00000316357:G1454A	ENSP00000316357:G1454A	G	+	2	0	USP9X	40941688	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.471000	0.97696	2.325000	0.78763	0.415000	0.27848	GGA		0.333	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		11	13	0	0	0	1	0	11	13				
RYR3	6263	broad.mit.edu	37	15	33954828	33954828	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:33954828G>C	ENST00000389232.4	+	35	5167	c.5097G>C	c.(5095-5097)ctG>ctC	p.L1699L	RYR3_ENST00000415757.3_Silent_p.L1699L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1699	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGTATGCTGACAGAGGCAG	0.572																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5095-5097)ctG>ctC		ryanodine receptor 3							76.0	81.0	79.0					15																	33954828		2054	4223	6277	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954828G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5097G>C	15.37:g.33954828G>C						RYR3_ENST00000415757.3_Silent_p.L1699L	p.L1699L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5167	+		all_lung(180;7.18e-09)	1699			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5097G>C	CCDS45210.1																																																																																				0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			44	100	0	0	0	1	0	44	100				
KLHL2	11275	broad.mit.edu	37	4	166234437	166234437	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:166234437C>G	ENST00000226725.6	+	12	1646	c.1387C>G	c.(1387-1389)Ctt>Gtt	p.L463V	KLHL2_ENST00000514860.1_Missense_Mutation_p.L467V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.L366V|KLHL2_ENST00000506761.1_Missense_Mutation_p.L297V|KLHL2_ENST00000538127.1_Missense_Mutation_p.L375V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	463					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		ACGTCAGTGTCTTAGCACAGT	0.388																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1387-1389)Ctt>Gtt		kelch-like family member 2							137.0	125.0	129.0					4																	166234437		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166234437C>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1387C>G	4.37:g.166234437C>G	ENSP00000226725:p.Leu463Val					KLHL2_ENST00000538127.1_Missense_Mutation_p.L375V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L467V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L366V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L297V	p.L463V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	12	1646	+	all_hematologic(180;0.221)		463					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1387C>G	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046238	0.55110	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.93	5.93	0.95920	Galactose oxidase, beta-propeller (1);	0.060644	0.64402	D	0.000004	D	0.90452	0.7010	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90956	0.4809	10	0.62326	D	0.03	.	15.4263	0.75055	0.0:0.9323:0.0:0.0677	.	467;463;463	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	V	463;467;375;366;297	ENSP00000226725:L463V;ENSP00000424198:L467V;ENSP00000437526:L375V;ENSP00000408974:L366V;ENSP00000424108:L297V	ENSP00000226725:L463V	L	+	1	0	KLHL2	166453887	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.032000	0.57274	2.826000	0.97356	0.655000	0.94253	CTT		0.388	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			32	75	0	0	0	1	0	32	75				
MYH9	4627	broad.mit.edu	37	22	36681376	36681376	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:36681376C>T	ENST00000216181.5	-	38	5505		c.e38-1		MYH9_ENST00000475726.1_Splice_Site	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGGTCGATCTGCAGAAGAA	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.e38-1		myosin, heavy chain 9, non-muscle							82.0	76.0	78.0					22																	36681376		2203	4300	6503	SO:0001630	splice_region_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681376C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5275-1G>A	22.37:g.36681376C>T						MYH9_ENST00000475726.1_Splice_Site		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			38	5505	-								A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	SNP	ENST00000216181.5	37		CCDS13927.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050840	0.75960	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3019	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH9	35011322	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.495000	0.81514	2.375000	0.81037	0.557000	0.71058	.		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	Intron	49	86	0	0	0	1	0	49	86				
PKP3	11187	broad.mit.edu	37	11	404318	404318	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:404318C>T	ENST00000331563.2	+	12	2429	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	785					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGACTTCCGGGCGGTACG	0.667																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2353-2355)Cgg>Tgg		plakophilin 3							63.0	59.0	60.0					11																	404318		2194	4287	6481	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:404318C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.2353C>T	11.37:g.404318C>T	ENSP00000331678:p.Arg785Trp						p.R785W	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2429	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	785					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.2353C>T	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.858224	0.51376	.	.	ENSG00000184363	ENST00000331563	D	0.81499	-1.5	4.28	4.28	0.50868	.	0.192524	0.37136	N	0.002223	T	0.77274	0.4106	N	0.19112	0.55	0.39229	D	0.963649	D	0.76494	0.999	P	0.56434	0.798	T	0.81176	-0.1052	10	0.87932	D	0	-26.0959	10.7902	0.46428	0.3337:0.6663:0.0:0.0	.	785	Q9Y446	PKP3_HUMAN	W	785	ENSP00000331678:R785W	ENSP00000331678:R785W	R	+	1	2	PKP3	394318	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	1.930000	0.40124	2.121000	0.65114	0.313000	0.20887	CGG		0.667	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		20	70	0	0	0	1	0	20	70				
ZBTB7C	201501	broad.mit.edu	37	18	45566424	45566424	+	Missense_Mutation	SNP	A	A	G	rs200790874		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:45566424A>G	ENST00000588982.1	-	3	1556	c.1055T>C	c.(1054-1056)cTg>cCg	p.L352P	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.L352P|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.L352P			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	352							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCTTCTACCAGGGGCCAGGG	0.642													A|||	1	0.000199681	0.0	0.0	5008	,	,		16540	0.0		0.001	False		,,,				2504	0.0					ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1054-1056)cTg>cCg		zinc finger and BTB domain containing 7C							71.0	73.0	73.0					18																	45566424		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566424A>G	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1055T>C	18.37:g.45566424A>G	ENSP00000468782:p.Leu352Pro					ZBTB7C_ENST00000586438.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.L352P|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.L352P	p.L352P			A1YPR0	ZBT7C_HUMAN			3	1556	-			352					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.1055T>C	CCDS32830.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.79	3.220979	0.58560	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.13901	2.55;2.55	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.28764	0.0713	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.01508	-1.1337	10	0.25751	T	0.34	.	14.4679	0.67497	1.0:0.0:0.0:0.0	.	352;352	B2RG49;A1YPR0	.;ZBT7C_HUMAN	P	352	ENSP00000439781:L352P;ENSP00000328732:L352P	ENSP00000328732:L352P	L	-	2	0	ZBTB7C	43820422	1.000000	0.71417	0.987000	0.45799	0.923000	0.55619	5.850000	0.69473	2.013000	0.59113	0.459000	0.35465	CTG		0.642	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		34	143	0	0	0	1	0	34	143				
ZNF709	163051	broad.mit.edu	37	19	12577597	12577597	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:12577597G>C	ENST00000397732.3	-	2	242	c.71C>G	c.(70-72)tCt>tGt	p.S24C	CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.S24C|ZNF709_ENST00000428311.1_Missense_Mutation_p.S24C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTCTTCTGAGAGGGACCCAG	0.458																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(70-72)tCt>tGt		zinc finger protein 709							96.0	98.0	97.0					19																	12577597		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577597G>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.71C>G	19.37:g.12577597G>C	ENSP00000380840:p.Ser24Cys					ZNF709_ENST00000428311.1_Missense_Mutation_p.S24C|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.S24C	p.S24C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			2	242	-			24			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.71C>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661179	0.29515	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.01918	4.56;4.56;4.56	3.19	-1.82	0.07857	Krueppel-associated box (4);	1.069840	0.07470	N	0.902149	T	0.13243	0.0321	M	0.93283	3.4	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.13282	-1.0515	10	0.66056	D	0.02	.	2.7891	0.05383	0.3174:0.0:0.3476:0.335	.	24	Q8N972	ZN709_HUMAN	C	24;53;24	ENSP00000380840:S24C;ENSP00000398085:S53C;ENSP00000404127:S24C	ENSP00000404127:S24C	S	-	2	0	ZNF709;CTD-2192J16.17	12438597	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-0.355000	0.07671	-0.217000	0.10033	-0.500000	0.04577	TCT		0.458	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		50	129	0	0	0	1	0	50	129				
NSFL1C	55968	broad.mit.edu	37	20	1424538	1424538	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:1424538G>A	ENST00000216879.4	-	9	1836	c.969C>T	c.(967-969)ctC>ctT	p.L323L	NSFL1C_ENST00000381658.4_Silent_p.L212L|NSFL1C_ENST00000350991.4_Silent_p.L325L|NSFL1C_ENST00000476071.1_Silent_p.L325L|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.L292L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	323	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCACGATGAAGAGTCGGATGT	0.572																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(967-969)ctC>ctT		NSFL1 (p97) cofactor (p47)							49.0	41.0	44.0					20																	1424538		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1424538G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.969C>T	20.37:g.1424538G>A						NSFL1C_ENST00000381658.4_Silent_p.L212L|NSFL1C_ENST00000353088.2_Silent_p.L292L|NSFL1C_ENST00000476071.1_Silent_p.L325L|NSFL1C_ENST00000350991.4_Silent_p.L325L|NSFL1C_ENST00000461211.1_5'UTR	p.L323L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			9	1836	-			323			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.969C>T	CCDS13015.1																																																																																				0.572	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		5	24	0	0	0	1	0	5	24				
BDP1	55814	broad.mit.edu	37	5	70855889	70855889	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:70855889G>A	ENST00000358731.4	+	37	7584	c.7321G>A	c.(7321-7323)Gaa>Aaa	p.E2441K	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2441					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGCAAGTTGAAGCAGCTTT	0.423																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7321-7323)Gaa>Aaa		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							119.0	108.0	112.0					5																	70855889		1938	4147	6085	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70855889G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7321G>A	5.37:g.70855889G>A	ENSP00000351575:p.Glu2441Lys					BDP1_ENST00000380675.2_3'UTR	p.E2441K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7584	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2441					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7321G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260286	0.39995	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.06294	3.32	5.36	3.52	0.40303	.	0.260386	0.27084	N	0.021014	T	0.10594	0.0259	M	0.64997	1.995	0.26300	N	0.977982	P	0.35507	0.506	B	0.42555	0.391	T	0.08764	-1.0706	10	0.51188	T	0.08	.	7.7737	0.29023	0.1889:0.0:0.8111:0.0	.	2441	A6H8Y1	BDP1_HUMAN	K	2441;1989	ENSP00000351575:E2441K	ENSP00000351575:E2441K	E	+	1	0	BDP1	70891645	0.981000	0.34729	0.041000	0.18516	0.080000	0.17528	2.199000	0.42715	0.585000	0.29608	0.585000	0.79938	GAA		0.423	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		35	78	0	0	0	1	0	35	78				
ZNF30	90075	broad.mit.edu	37	19	35422771	35422771	+	Missense_Mutation	SNP	G	G	A	rs202087912		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:35422771G>A	ENST00000601142.1	+	3	271	c.34G>A	c.(34-36)Gga>Aga	p.G12R	ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.G12R|ZNF30_ENST00000303586.7_Missense_Mutation_p.G12R|ZNF30_ENST00000601957.1_Missense_Mutation_p.G12R			P17039	ZNF30_HUMAN	zinc finger protein 30	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAGTATCACGGATCAGTGAC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20919	0.0		0.001	False		,,,				2504	0.0					ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(34-36)Gga>Aga		zinc finger protein 30							82.0	84.0	83.0					19																	35422771		2120	4261	6381	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35422771G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.34G>A	19.37:g.35422771G>A	ENSP00000469954:p.Gly12Arg					ZNF30_ENST00000601142.1_Missense_Mutation_p.G12R|ZNF30_ENST00000601957.1_Missense_Mutation_p.G12R|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.G12R	p.G12R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	3	478	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		12					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.34G>A	CCDS46045.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.63	1.405389	0.25378	.	.	ENSG00000168661	ENST00000439785;ENST00000303586	T;T	0.00892	5.57;5.57	1.55	1.55	0.23275	Krueppel-associated box (1);	.	.	.	.	T	0.01353	0.0044	M	0.61387	1.9	0.58432	D	0.999998	P;P	0.49635	0.506;0.926	B;B	0.42495	0.117;0.389	T	0.68588	-0.5369	9	0.41790	T	0.15	.	6.5714	0.22541	0.0:0.0:1.0:0.0	.	12;12	P17039-2;P17039	.;ZNF30_HUMAN	R	12	ENSP00000403441:G12R;ENSP00000303889:G12R	ENSP00000303889:G12R	G	+	1	0	ZNF30	40114611	0.940000	0.31905	0.544000	0.28141	0.690000	0.40134	1.661000	0.37408	1.167000	0.42706	0.514000	0.50259	GGA		0.453	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		17	31	0	0	0	1	0	17	31				
FAM83B	222584	broad.mit.edu	37	6	54805670	54805670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:54805670C>G	ENST00000306858.7	+	5	2017	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	634										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CATACTGAATCAAATAACTAT	0.383																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1900-1902)tCa>tGa		family with sequence similarity 83, member B							41.0	41.0	41.0					6																	54805670		2198	4296	6494	SO:0001587	stop_gained	222584							g.chr6:54805670C>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1901C>G	6.37:g.54805670C>G	ENSP00000304078:p.Ser634*						p.S634*	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2017	+	Lung NSC(77;0.0178)|Renal(3;0.122)		634					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.1901C>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727911	0.69074	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.55	4.67	0.58626	.	0.846551	0.10442	N	0.674256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.3109	8.1471	0.31119	0.272:0.6539:0.0:0.0741	.	.	.	.	X	634	.	ENSP00000304078:S634X	S	+	2	0	FAM83B	54913629	0.002000	0.14202	0.082000	0.20525	0.459000	0.32528	1.707000	0.37888	1.457000	0.47850	0.655000	0.94253	TCA		0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		28	66	0	0	0	1	0	28	66				
UFSP1	402682	broad.mit.edu	37	7	100486564	100486564	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:100486564A>G	ENST00000388761.2	-	1	775	c.329T>C	c.(328-330)gTg>gCg	p.V110A		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	110						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGCCAGCCCACCCACCCAGC	0.582																																						ENST00000388761.2																			0				lung(1)|stomach(1)	2						c.(328-330)gTg>gCg		UFM1-specific peptidase 1 (non-functional)							116.0	110.0	112.0					7																	100486564		2203	4300	6503	SO:0001583	missense	402682							g.chr7:100486564A>G	AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.329T>C	7.37:g.100486564A>G	ENSP00000373413:p.Val110Ala						p.V110A	NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN			1	775	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		110					A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Missense_Mutation	SNP	ENST00000388761.2	37	c.329T>C	CCDS34710.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148303	0.78001	.	.	ENSG00000176125	ENST00000388761	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.56097	D	0.000021	T	0.57344	0.2047	M	0.67397	2.05	0.50813	D	0.999892	D	0.89917	1.0	D	0.83275	0.996	T	0.59731	-0.7399	10	0.56958	D	0.05	-11.6634	13.27	0.60155	1.0:0.0:0.0:0.0	.	110	Q6NVU6	UFSP1_HUMAN	A	110	ENSP00000373413:V110A	ENSP00000373413:V110A	V	-	2	0	UFSP1	100324500	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	7.592000	0.82676	2.090000	0.63153	0.477000	0.44152	GTG		0.582	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072		38	98	0	0	0	1	0	38	98				
PLCB1	23236	broad.mit.edu	37	20	8769168	8769168	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:8769168G>C	ENST00000338037.6	+	28	3211	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	PLCB1_ENST00000378637.2_Missense_Mutation_p.E1062Q|PLCB1_ENST00000378641.3_Missense_Mutation_p.E1062Q|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1062					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAATCTGTGAGAAGTAAGC	0.358																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3184-3186)Gag>Cag		phospholipase C, beta 1 (phosphoinositide-specific)							65.0	62.0	63.0					20																	8769168		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8769168G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3184G>C	20.37:g.8769168G>C	ENSP00000338185:p.Glu1062Gln					PLCB1_ENST00000338037.6_Missense_Mutation_p.E1062Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E1062Q	p.E1062Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			28	3659	+			1062					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3184G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977826	0.92982	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.62105	0.05;0.05;0.05	5.06	5.06	0.68205	PLC-beta, C-terminal (1);	0.053954	0.64402	D	0.000001	T	0.77631	0.4159	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.76494	0.999;0.995	D;D	0.72982	0.979;0.962	T	0.79706	-0.1691	10	0.72032	D	0.01	.	18.7998	0.92011	0.0:0.0:1.0:0.0	.	1062;1062	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Q	1062;1062;1062;982;982	ENSP00000367908:E1062Q;ENSP00000338185:E1062Q;ENSP00000367904:E1062Q	ENSP00000338185:E1062Q	E	+	1	0	PLCB1	8717168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.522000	0.85027	0.563000	0.77884	GAG		0.358	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			16	31	0	0	0	1	0	16	31				
HIST1H2BG	8339	broad.mit.edu	37	6	26216803	26216803	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26216803C>G	ENST00000244601.3	-	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	23					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CATCCTTCTTCTGCGCCTTGG	0.507																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(67-69)caG>caC		histone cluster 1, H2bg							190.0	166.0	174.0					6																	26216803		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216803C>G	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.69G>C	6.37:g.26216803C>G	ENSP00000244601:p.Gln23His						p.Q23H	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	69	-		all_hematologic(11;0.196)	23					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.69G>C	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794276	0.31777	.	.	ENSG00000187990	ENST00000244601	T	0.23950	1.88	4.0	2.17	0.27698	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.24027	N	0.996127	.	.	.	.	.	.	T	0.08953	-1.0697	6	0.72032	D	0.01	.	11.9846	0.53140	0.0:0.7699:0.0:0.2301	.	.	.	.	H	23	ENSP00000244601:Q23H	ENSP00000244601:Q23H	Q	-	3	2	HIST1H2BG	26324782	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.212000	0.32394	0.461000	0.27071	-0.797000	0.03246	CAG		0.507	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		83	159	0	0	0	1	0	83	159				
SPEN	23013	broad.mit.edu	37	1	16264419	16264419	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16264419C>T	ENST00000375759.3	+	13	10826	c.10622C>T	c.(10621-10623)tCt>tTt	p.S3541F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3541	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCCCCTTTCTGAAGGAGGG	0.627																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10621-10623)tCt>tTt		spen family transcriptional repressor							73.0	71.0	72.0					1																	16264419		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264419C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10622C>T	1.37:g.16264419C>T	ENSP00000364912:p.Ser3541Phe						p.S3541F	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10826	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3541			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10622C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196876	0.38806	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.26557	0.0649	L	0.46157	1.445	0.35727	D	0.817631	D	0.56968	0.978	P	0.62184	0.899	T	0.03728	-1.1009	9	0.52906	T	0.07	-16.7839	19.3263	0.94264	0.0:1.0:0.0:0.0	.	3541	Q96T58	MINT_HUMAN	F	3541	ENSP00000364912:S3541F	ENSP00000364912:S3541F	S	+	2	0	SPEN	16137006	0.978000	0.34361	1.000000	0.80357	0.993000	0.82548	2.679000	0.46909	2.628000	0.89032	0.655000	0.94253	TCT		0.627	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		36	67	0	0	0	1	0	36	67				
PCSK9	255738	broad.mit.edu	37	1	55518431	55518431	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:55518431C>G	ENST00000302118.5	+	5	1056	c.766C>G	c.(766-768)Caa>Gaa	p.Q256E	PCSK9_ENST00000543384.1_Missense_Mutation_p.Q56E|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	256	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCTCAACTGCCAAGGGAAGGG	0.667																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(766-768)Caa>Gaa		proprotein convertase subtilisin/kexin type 9							46.0	43.0	44.0					1																	55518431		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55518431C>G	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.766C>G	1.37:g.55518431C>G	ENSP00000303208:p.Gln256Glu					PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.Q56E	p.Q256E	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			5	1056	+			256			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.766C>G	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613444	0.66672	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.87571	-2.27;-2.27	4.02	4.02	0.46733	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.084158	0.50627	D	0.000108	D	0.85733	0.5765	N	0.17764	0.52	0.43133	D	0.994873	D	0.71674	0.998	P	0.57057	0.812	D	0.86445	0.1769	10	0.38643	T	0.18	-5.844	16.1496	0.81605	0.0:1.0:0.0:0.0	.	256	Q8NBP7	PCSK9_HUMAN	E	256;56	ENSP00000303208:Q256E;ENSP00000441859:Q56E	ENSP00000303208:Q256E	Q	+	1	0	PCSK9	55291019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.525000	0.73795	1.756000	0.51951	0.563000	0.77884	CAA		0.667	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		12	51	0	0	0	1	0	12	51				
ECM1	1893	broad.mit.edu	37	1	150485800	150485800	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:150485800G>A	ENST00000369047.4	+	10	1605	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E521K|ECM1_ENST00000346569.6_Missense_Mutation_p.E369K|LINC00568_ENST00000416894.1_lincRNA	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	494					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCTGGGGATGAACAGGTCAA	0.522																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(1480-1482)Gaa>Aaa		extracellular matrix protein 1							152.0	139.0	143.0					1																	150485800		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150485800G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1480G>A	1.37:g.150485800G>A	ENSP00000358043:p.Glu494Lys					ECM1_ENST00000369049.4_Missense_Mutation_p.E521K|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.E369K	p.E494K	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1605	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		494					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1480G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641633	0.47153	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.75477	-0.94;-0.94;-0.94	4.85	2.95	0.34219	.	0.260506	0.29438	N	0.012157	T	0.32645	0.0836	L	0.27053	0.805	0.18873	N	0.999989	B;B;B	0.29162	0.228;0.235;0.046	B;B;B	0.31337	0.128;0.097;0.04	T	0.32798	-0.9893	10	0.07813	T	0.8	-2.7529	6.9044	0.24301	0.2132:0.0:0.7868:0.0	.	521;369;494	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	K	521;494;369	ENSP00000358045:E521K;ENSP00000358043:E494K;ENSP00000271630:E369K	ENSP00000271630:E369K	E	+	1	0	ECM1	148752424	0.500000	0.26091	0.973000	0.42090	0.988000	0.76386	0.186000	0.16978	0.615000	0.30124	0.563000	0.77884	GAA		0.522	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		45	126	0	0	0	1	0	45	126				
CAMKK1	84254	broad.mit.edu	37	17	3775883	3775883	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:3775883C>T	ENST00000348335.2	-	12	1237	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	CAMKK1_ENST00000381769.2_Silent_p.R390R|CAMKK1_ENST00000381771.2_Silent_p.R401R|CAMKK1_ENST00000158166.5_Silent_p.R401R	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCTTGATCTTCCTGTGGAGGG	0.582																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1201-1203)agG>agA		calcium/calmodulin-dependent protein kinase kinase 1, alpha							113.0	100.0	104.0					17																	3775883		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3775883C>T	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1089G>A	17.37:g.3775883C>T						CAMKK1_ENST00000158166.5_Silent_p.R401R|CAMKK1_ENST00000348335.2_Silent_p.R363R|CAMKK1_ENST00000381769.2_Silent_p.R390R	p.R401R			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	13	1350	-			363			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.1203G>A	CCDS11038.1																																																																																				0.582	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		27	48	0	0	0	1	0	27	48				
STK19	8859	broad.mit.edu	37	6	31948488	31948488	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:31948488C>T	ENST00000375333.2	+	7	1024	c.971C>T	c.(970-972)tCa>tTa	p.S324L	C4A_ENST00000537134.1_5'Flank|C4A_ENST00000428956.2_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.S320L|C4A_ENST00000498271.1_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	324					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CTGCTCCTATCAGAGCTCCTG	0.607																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(958-960)tCa>tTa		serine/threonine kinase 19							45.0	56.0	52.0					6																	31948488		1509	2709	4218	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31948488C>T	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.971C>T	6.37:g.31948488C>T	ENSP00000364482:p.Ser324Leu					STK19_ENST00000375333.2_Missense_Mutation_p.S324L	p.S320L	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			7	1125	+			324					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.959C>T	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274590	0.59649	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.32988	1.43;1.43	4.65	3.79	0.43588	.	0.246152	0.35585	N	0.003114	T	0.24851	0.0603	L	0.43923	1.385	0.09310	N	0.999992	D;D;D;D	0.60575	0.959;0.988;0.98;0.979	P;P;P;P	0.56216	0.718;0.794;0.714;0.777	T	0.03524	-1.1028	10	0.66056	D	0.02	-8.3024	11.826	0.52267	0.0:0.913:0.0:0.087	.	277;320;324;277	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	L	320;324	ENSP00000364480:S320L;ENSP00000364482:S324L	ENSP00000364480:S320L	S	+	2	0	STK19	32056467	0.978000	0.34361	0.075000	0.20258	0.491000	0.33493	2.695000	0.47043	1.195000	0.43115	0.555000	0.69702	TCA		0.607	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			30	71	0	0	0	1	0	30	71				
HAND1	9421	broad.mit.edu	37	5	153857334	153857334	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:153857334C>A	ENST00000231121.2	-	1	490	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	79					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGCTCTGCCCAGGCCTGGCG	0.736																																						ENST00000231121.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(235-237)Ggg>Tgg		heart and neural crest derivatives expressed 1							10.0	12.0	11.0					5																	153857334		2178	4275	6453	SO:0001583	missense	9421				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	g.chr5:153857334C>A	AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.235G>T	5.37:g.153857334C>A	ENSP00000231121:p.Gly79Trp						p.G79W	NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		1	490	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	79						Missense_Mutation	SNP	ENST00000231121.2	37	c.235G>T	CCDS4327.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447110	0.43429	.	.	ENSG00000113196	ENST00000231121	D	0.96136	-3.92	4.98	3.17	0.36434	.	0.340768	0.24973	N	0.034134	D	0.87509	0.6195	N	0.14661	0.345	0.25846	N	0.98399	P	0.43412	0.806	B	0.38803	0.282	T	0.81897	-0.0722	10	0.66056	D	0.02	-20.6268	4.0666	0.09862	0.1853:0.6129:0.0:0.2018	.	79	O96004	HAND1_HUMAN	W	79	ENSP00000231121:G79W	ENSP00000231121:G79W	G	-	1	0	HAND1	153837527	0.001000	0.12720	0.750000	0.31169	0.845000	0.48019	0.116000	0.15561	0.486000	0.27676	0.313000	0.20887	GGG		0.736	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		5	24	1	0	1.23904e-05	1	1.26171e-05	5	24				
MYLK	4638	broad.mit.edu	37	3	123427692	123427692	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:123427692C>G	ENST00000475616.1	-	12	1992	c.1993G>C	c.(1993-1995)Gag>Cag	p.E665Q	MYLK_ENST00000360304.3_Missense_Mutation_p.E665Q|MYLK_ENST00000346322.5_Missense_Mutation_p.E596Q|MYLK_ENST00000359169.1_Missense_Mutation_p.E665Q|MYLK_ENST00000360772.3_Missense_Mutation_p.E665Q			Q15746	MYLK_HUMAN	myosin light chain kinase	665	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTCTGACTCTTGGATCTCA	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1993-1995)Gag>Cag		myosin light chain kinase							102.0	99.0	100.0					3																	123427692		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123427692C>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1993G>C	3.37:g.123427692C>G	ENSP00000418335:p.Glu665Gln					MYLK_ENST00000359169.1_Missense_Mutation_p.E665Q|MYLK_ENST00000346322.5_Missense_Mutation_p.E596Q|MYLK_ENST00000475616.1_Missense_Mutation_p.E665Q|MYLK_ENST00000360304.3_Missense_Mutation_p.E665Q	p.E665Q			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	16	2371	-		Lung NSC(201;0.0496)	665			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1993G>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553986	0.86231	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.58	4.58	0.56647	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74465	0.3720	L	0.35341	1.055	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.978;0.998;0.952;0.999	D;P;D;P;D	0.76575	0.979;0.836;0.964;0.768;0.988	T	0.77879	-0.2423	9	0.66056	D	0.02	.	17.5559	0.87889	0.0:1.0:0.0:0.0	.	665;596;665;596;665	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Q	665;665;665;596;665	ENSP00000354004:E665Q;ENSP00000353452:E665Q;ENSP00000352088:E665Q;ENSP00000320622:E596Q;ENSP00000418335:E665Q	ENSP00000320622:E596Q	E	-	1	0	MYLK	124910382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.649000	0.74364	2.339000	0.79563	0.650000	0.86243	GAG		0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		34	114	0	0	0	1	0	34	114				
BMP1	649	broad.mit.edu	37	8	22035427	22035427	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:22035427G>A	ENST00000306385.5	+	6	1463	c.793G>A	c.(793-795)Gac>Aac	p.D265N	BMP1_ENST00000397814.3_Missense_Mutation_p.D265N|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.D265N|BMP1_ENST00000397816.3_Missense_Mutation_p.D265N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	265	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGACCTATGACTTCGACAG	0.602																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(793-795)Gac>Aac		bone morphogenetic protein 1							227.0	203.0	211.0					8																	22035427		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22035427G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.793G>A	8.37:g.22035427G>A	ENSP00000305714:p.Asp265Asn					BMP1_ENST00000306349.8_Missense_Mutation_p.D265N|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.D265N|BMP1_ENST00000397814.3_Missense_Mutation_p.D265N	p.D265N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	6	1463	+			265			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.793G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310452	0.95629	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.12	5.12	0.69794	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.40144	U	0.001176	D	0.89501	0.6733	M	0.93978	3.48	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.659;1.0	D;D;B;D	0.91635	0.999;0.998;0.385;0.997	D	0.91798	0.5449	10	0.59425	D	0.04	.	16.045	0.80714	0.0:0.0:1.0:0.0	.	265;338;265;265	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	N	265	ENSP00000305714:D265N;ENSP00000380917:D265N;ENSP00000306121:D265N;ENSP00000380915:D265N	ENSP00000306121:D265N	D	+	1	0	BMP1	22091372	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	9.864000	0.99589	2.382000	0.81193	0.484000	0.47621	GAC		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		71	159	0	0	0	1	0	71	159				
CASK	8573	broad.mit.edu	37	X	41469159	41469159	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:41469159C>T	ENST00000378163.1	-	12	1627	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	CASK_ENST00000378154.1_Missense_Mutation_p.D385N|CASK_ENST00000378166.4_Missense_Mutation_p.D385N|CASK_ENST00000378158.1_Missense_Mutation_p.D385N|CASK_ENST00000361962.4_Missense_Mutation_p.D385N|CASK_ENST00000421587.2_Missense_Mutation_p.D379N|CASK_ENST00000318588.9_Missense_Mutation_p.D385N|CASK_ENST00000442742.2_Missense_Mutation_p.D385N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	385	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AGACTTACATCTAGTAGTGTG	0.448																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(1153-1155)Gat>Aat		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							93.0	78.0	83.0					X																	41469159		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41469159C>T	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1153G>A	X.37:g.41469159C>T	ENSP00000367405:p.Asp385Asn					CASK_ENST00000442742.2_Missense_Mutation_p.D385N|CASK_ENST00000361962.4_Missense_Mutation_p.D385N|CASK_ENST00000421587.2_Missense_Mutation_p.D379N|CASK_ENST00000378154.1_Missense_Mutation_p.D385N|CASK_ENST00000378158.1_Missense_Mutation_p.D385N|CASK_ENST00000378163.1_Missense_Mutation_p.D385N|CASK_ENST00000378166.4_Missense_Mutation_p.D385N	p.D385N			O14936	CSKP_HUMAN			12	1198	-			385			L27 1.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.1153G>A		.	.	.	.	.	.	.	.	.	.	C	19.42	3.823706	0.71143	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.67345	-0.25;-0.24;-0.26;-0.24;-0.25;-0.24;-0.25;-0.25	5.16	5.16	0.70880	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000048	T	0.67813	0.2933	N	0.12182	0.205	0.80722	D	1	B;P;B;B	0.52577	0.068;0.954;0.0;0.001	B;D;B;B	0.65140	0.035;0.932;0.002;0.003	T	0.70901	-0.4746	10	0.38643	T	0.18	.	18.0284	0.89275	0.0:1.0:0.0:0.0	.	379;385;385;385	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	N	379;385;385;385;385;385;385;385	ENSP00000400526:D379N;ENSP00000322727:D385N;ENSP00000354641:D385N;ENSP00000367405:D385N;ENSP00000367400:D385N;ENSP00000367408:D385N;ENSP00000398007:D385N;ENSP00000367396:D385N	ENSP00000322727:D385N	D	-	1	0	CASK	41354103	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.445000	0.80570	2.278000	0.76064	0.600000	0.82982	GAT		0.448	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		20	20	0	0	0	1	0	20	20				
SNX12	29934	broad.mit.edu	37	X	70281738	70281738	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:70281738G>C	ENST00000374274.3	-	3	457	c.341C>G	c.(340-342)tCt>tGt	p.S114C	SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.S110C	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					TTCGATGAAAGACTCCTCAAA	0.498																																						ENST00000374274.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(340-342)tCt>tGt		sorting nexin 12							52.0	46.0	48.0					X																	70281738		2203	4300	6503	SO:0001583	missense	29934				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	g.chrX:70281738G>C	AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.341C>G	X.37:g.70281738G>C	ENSP00000363392:p.Ser114Cys					SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.S110C	p.S114C	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN			3	457	-	Renal(35;0.156)		114			PX.		F8W8K5|Q8WUG9	Missense_Mutation	SNP	ENST00000374274.3	37	c.341C>G	CCDS14405.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500597	0.64298	.	.	ENSG00000147164	ENST00000374274;ENST00000276105	T;T	0.37411	1.2;1.2	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.85777	2.775	0.53688	D	0.999979	P	0.36959	0.575	P	0.50659	0.647	T	0.65034	-0.6266	10	0.72032	D	0.01	-13.5259	16.8254	0.85929	0.0:0.0:1.0:0.0	.	114	Q3SYF1	.	C	114;110	ENSP00000363392:S114C;ENSP00000276105:S110C	ENSP00000276105:S110C	S	-	2	0	SNX12	70198463	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.234000	0.72326	2.438000	0.82558	0.600000	0.82982	TCT		0.498	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		12	12	0	0	0	1	0	12	12				
NXF1	10482	broad.mit.edu	37	11	62561766	62561766	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62561766G>A	ENST00000532297.1	-	20	2353	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	NXF1_ENST00000294172.2_Missense_Mutation_p.S575F|NXF1_ENST00000533048.1_5'UTR|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	575	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACTGGGTAGAGAATGCTTG	0.557																																						ENST00000532297.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1723-1725)tCt>tTt		nuclear RNA export factor 1							90.0	80.0	84.0					11																	62561766		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62561766G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1724C>T	11.37:g.62561766G>A	ENSP00000436679:p.Ser575Phe					NXF1_ENST00000294172.2_Missense_Mutation_p.S575F|NXF1_ENST00000531709.2_3'UTR	p.S575F			Q9UBU9	NXF1_HUMAN			20	2353	-			575			TAP-C.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1724C>T	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467430	0.84533	.	.	ENSG00000162231	ENST00000294172;ENST00000532297	T;T	0.53206	0.63;0.63	5.21	5.21	0.72293	TAP, C-terminal (3);UBA-like (1);	0.184698	0.49305	D	0.000156	T	0.70806	0.3266	M	0.91818	3.245	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	T	0.74529	-0.3635	10	0.46703	T	0.11	-5.9342	10.1227	0.42630	0.0916:0.0:0.9084:0.0	.	575	Q9UBU9	NXF1_HUMAN	F	575	ENSP00000294172:S575F;ENSP00000436679:S575F	ENSP00000294172:S575F	S	-	2	0	NXF1	62318342	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.639000	0.83342	2.595000	0.87683	0.561000	0.74099	TCT		0.557	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		17	36	0	0	0	1	0	17	36				
CEP350	9857	broad.mit.edu	37	1	179983534	179983534	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:179983534C>T	ENST00000367607.3	+	10	2364	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	649					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTCCCTCCTTCTGAGCCATCA	0.428																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(1945-1947)tCt>tTt		centrosomal protein 350kDa							52.0	49.0	50.0					1																	179983534		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179983534C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1946C>T	1.37:g.179983534C>T	ENSP00000356579:p.Ser649Phe						p.S649F	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			10	2364	+			649					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1946C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909675	0.52439	.	.	ENSG00000135837	ENST00000367607	D	0.93133	-3.17	5.44	4.53	0.55603	.	0.168870	0.28187	U	0.016269	D	0.88912	0.6566	L	0.27053	0.805	0.30697	N	0.750699	B;P	0.38642	0.004;0.641	B;B	0.41723	0.005;0.365	D	0.86205	0.1621	9	.	.	.	.	12.6627	0.56824	0.0:0.9223:0.0:0.0777	.	649;649	E7EU22;Q5VT06	.;CE350_HUMAN	F	649	ENSP00000356579:S649F	.	S	+	2	0	CEP350	178250157	0.870000	0.30015	0.977000	0.42913	0.974000	0.67602	2.076000	0.41548	1.433000	0.47394	-0.157000	0.13467	TCT		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	6	0	0	0	1	0	5	6				
NRXN3	9369	broad.mit.edu	37	14	80328176	80328176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:80328176C>T	ENST00000557594.1	+	6	2736	c.1783C>T	c.(1783-1785)Caa>Taa	p.Q595*	NRXN3_ENST00000554719.1_Nonsense_Mutation_p.Q1019*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Nonsense_Mutation_p.Q390*|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.Q1019*|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.Q417*	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	595					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGGTCCTATCAAGTGGACGA	0.572																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1168-1170)Caa>Taa		neurexin 3							88.0	79.0	82.0					14																	80328176		2203	4300	6503	SO:0001587	stop_gained	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80328176C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1783C>T	14.37:g.80328176C>T	ENSP00000451672:p.Gln595*					NRXN3_ENST00000335750.5_Nonsense_Mutation_p.Q1019*|NRXN3_ENST00000557594.1_Nonsense_Mutation_p.Q595*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.Q417*|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.Q1019*	p.Q390*	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	2047	+		Renal(4;0.00876)	595					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Nonsense_Mutation	SNP	ENST00000557594.1	37	c.1168C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.103667	0.99337	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1601;1019;1019;595;390;417	.	.	Q	+	1	0	NRXN3	79397929	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CAA		0.572	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		12	23	0	0	0	1	0	12	23				
CAPSL	133690	broad.mit.edu	37	5	35910521	35910521	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35910521C>G	ENST00000397367.2	-	3	388	c.262G>C	c.(262-264)Gat>Cat	p.D88H	CAPSL_ENST00000397366.1_Missense_Mutation_p.D88H|CAPSL_ENST00000514524.1_Missense_Mutation_p.D88H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCATCTTTATCAAACCTCCGG	0.358																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(262-264)Gat>Cat		calcyphosine-like							123.0	119.0	120.0					5																	35910521		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910521C>G	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.262G>C	5.37:g.35910521C>G	ENSP00000380524:p.Asp88His					CAPSL_ENST00000514524.1_Missense_Mutation_p.D88H|CAPSL_ENST00000397366.1_Missense_Mutation_p.D88H	p.D88H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		3	388	-	all_lung(31;0.000268)		88			EF-hand 2.			Missense_Mutation	SNP	ENST00000397367.2	37	c.262G>C	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717792	0.68844	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.38	5.38	0.77491	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	H	0.99963	5.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99827	1.1051	10	0.87932	D	0	-21.9831	19.1307	0.93404	0.0:1.0:0.0:0.0	.	88	Q8WWF8	CAPSL_HUMAN	H	88	ENSP00000380524:D88H;ENSP00000380523:D88H;ENSP00000424806:D88H;ENSP00000421018:D88H	ENSP00000380523:D88H	D	-	1	0	CAPSL	35946278	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	7.311000	0.78958	2.526000	0.85167	0.462000	0.41574	GAT		0.358	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		39	101	0	0	0	1	0	39	101				
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.E519K(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064336	TGFBR2	M		c.(1555-1557)Gag>Aag		transforming growth factor, beta receptor II (70/80kDa)							71.0	61.0	64.0					3																	30732942		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732942G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1555G>A	3.37:g.30732942G>A	ENSP00000295754:p.Glu519Lys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	p.E519K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1937	+			519			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1555G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278299	0.95459	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.63580	-0.05;-0.05	5.91	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095303	0.64402	D	0.000001	T	0.72112	0.3420	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.75736	-0.3213	10	0.87932	D	0	.	16.3682	0.83343	0.0:0.0:0.8671:0.1329	.	519;544	P37173;D2JYI1	TGFR2_HUMAN;.	K	519;544;349	ENSP00000295754:E519K;ENSP00000351905:E544K	ENSP00000295754:E519K	E	+	1	0	TGFBR2	30707946	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	GAG		0.617	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			55	42	0	0	0	1	0	55	42				
CHRNB1	1140	broad.mit.edu	37	17	7359130	7359130	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:7359130C>G	ENST00000306071.2	+	10	1302	c.1235C>G	c.(1234-1236)tCt>tGt	p.S412C	CHRNB1_ENST00000575379.1_5'UTR|CHRNB1_ENST00000576360.1_Missense_Mutation_p.S291C|CHRNB1_ENST00000536404.2_Missense_Mutation_p.S340C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	412					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CCTGAACTGTCTGCCCCTGAT	0.622																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(1234-1236)tCt>tGt		cholinergic receptor, nicotinic, beta 1 (muscle)							72.0	63.0	66.0					17																	7359130		2203	4300	6503	SO:0001583	missense	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7359130C>G	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1235C>G	17.37:g.7359130C>G	ENSP00000304290:p.Ser412Cys					CHRNB1_ENST00000536404.2_Missense_Mutation_p.S340C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.S291C|CHRNB1_ENST00000575379.1_5'UTR	p.S412C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			10	1302	+		Prostate(122;0.157)	412					B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.1235C>G	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362499	0.41902	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	D;D	0.86297	-2.1;-2.1	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.762549	0.10355	U	0.684640	T	0.81418	0.4818	L	0.31157	0.91	0.58432	D	0.999999	B	0.14438	0.01	B	0.16289	0.015	T	0.73610	-0.3928	10	0.56958	D	0.05	.	10.5382	0.45018	0.0:0.9122:0.0:0.0878	.	412	P11230	ACHB_HUMAN	C	412;340	ENSP00000304290:S412C;ENSP00000439209:S340C	ENSP00000304290:S412C	S	+	2	0	CHRNB1	7299854	0.002000	0.14202	0.022000	0.16811	0.804000	0.45430	1.543000	0.36147	2.632000	0.89209	0.609000	0.83330	TCT		0.622	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			34	80	0	0	0	1	0	34	80				
MOB1A	55233	broad.mit.edu	37	2	74392365	74392365	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:74392365G>T	ENST00000396049.4	-	4	582	c.389C>A	c.(388-390)aCt>aAt	p.T130N	MOB1A_ENST00000409969.2_Missense_Mutation_p.T130N|MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	130					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										AGGAAAAAGAGTTTCATCATC	0.313																																						ENST00000396049.3																			0											c.(388-390)aCt>aAt		MOB kinase activator 1A							68.0	61.0	63.0					2																	74392365		1823	4064	5887	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74392365G>T		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.389C>A	2.37:g.74392365G>T	ENSP00000379364:p.Thr130Asn					MOB1A_ENST00000409969.2_Missense_Mutation_p.T130N|MOB1A_ENST00000497054.1_5'UTR	p.T130N	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN			4	582	-			130					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.389C>A	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560406	0.45590	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	N	0.11845	0.185	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21484	-1.0244	9	0.14656	T	0.56	.	16.2862	0.82722	0.0:0.0:1.0:0.0	.	130;130	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	N	130	.	ENSP00000379364:T130N	T	-	2	0	MOBKL1B	74245873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.697000	0.92050	0.563000	0.77884	ACT		0.313	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221		3	15	1	0	0.004672	1	0.00470014	3	15				
DCN	1634	broad.mit.edu	37	12	91546954	91546954	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:91546954G>A	ENST00000052754.5	-	6	1166	c.665C>T	c.(664-666)tCc>tTc	p.S222F	DCN_ENST00000425043.1_Missense_Mutation_p.S75F|DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.S222F|DCN_ENST00000420120.2_Missense_Mutation_p.S113F|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.S75F|DCN_ENST00000552962.1_Missense_Mutation_p.S222F|DCN_ENST00000228329.5_Missense_Mutation_p.S113F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	222					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCCGTAAGGGAAGGAGGAAG	0.353																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(664-666)tCc>tTc		decorin							121.0	115.0	117.0					12																	91546954		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91546954G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.665C>T	12.37:g.91546954G>A	ENSP00000052754:p.Ser222Phe					DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.S75F|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.S113F|DCN_ENST00000552962.1_Missense_Mutation_p.S222F|DCN_ENST00000393155.1_Missense_Mutation_p.S222F|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.S75F|DCN_ENST00000420120.2_Missense_Mutation_p.S113F	p.S222F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			6	1166	-			222					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.665C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241752	0.79912	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.33	5.33	0.75918	.	0.111155	0.64402	D	0.000005	T	0.78723	0.4328	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.995;0.993;0.999	D;D;D	0.71414	0.973;0.941;0.918	T	0.82037	-0.0656	10	0.87932	D	0	.	19.0061	0.92851	0.0:0.0:1.0:0.0	.	222;75;113	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	F	222;113;222;75;222;113;75;75	ENSP00000052754:S222F;ENSP00000228329:S113F;ENSP00000376862:S222F;ENSP00000401021:S75F;ENSP00000447654:S222F;ENSP00000413723:S113F;ENSP00000447674:S75F;ENSP00000446530:S75F	ENSP00000052754:S222F	S	-	2	0	DCN	90071085	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.944000	0.87722	2.497000	0.84241	0.591000	0.81541	TCC		0.353	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		26	66	0	0	0	1	0	26	66				
MUS81	80198	broad.mit.edu	37	11	65632751	65632751	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:65632751G>A	ENST00000308110.4	+	14	1811	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.E413K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	488					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGTGAGTGGGGAGAAGGCAGC	0.642								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1462-1464)Gag>Aag	Homologous recombination	MUS81 structure-specific endonuclease subunit							94.0	94.0	94.0					11																	65632751		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632751G>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1462G>A	11.37:g.65632751G>A	ENSP00000307853:p.Glu488Lys					MUS81_ENST00000533035.1_Missense_Mutation_p.E413K	p.E488K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	14	1811	+			488					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1462G>A	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958403	0.74016	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	T;T;T	0.61040	2.23;2.46;0.14	5.75	4.81	0.61882	Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.172812	0.53938	D	0.000047	T	0.61350	0.2340	M	0.88105	2.93	0.54753	D	0.999985	B	0.29085	0.232	B	0.26202	0.067	T	0.60702	-0.7211	10	0.28530	T	0.3	-17.3255	11.7529	0.51859	0.0897:0.0:0.9103:0.0	.	488	Q96NY9	MUS81_HUMAN	K	413;488;488;21	ENSP00000432287:E413K;ENSP00000307853:E488K;ENSP00000435277:E21K	ENSP00000307853:E488K	E	+	1	0	MUS81	65389327	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.875000	0.63072	1.367000	0.46095	0.511000	0.50034	GAG		0.642	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		26	72	0	0	0	1	0	26	72				
BBS7	55212	broad.mit.edu	37	4	122760789	122760789	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:122760789G>C	ENST00000264499.4	-	13	1551	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	BBS7_ENST00000506636.1_Silent_p.L456L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	456					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTACCTTGAGTTCCAGCC	0.353									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1366-1368)ctC>ctG		Bardet-Biedl syndrome 7							82.0	80.0	81.0					4																	122760789		2203	4300	6503	SO:0001819	synonymous_variant	55212	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122760789G>C	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1368C>G	4.37:g.122760789G>C						BBS7_ENST00000506636.1_Silent_p.L456L	p.L456L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			13	1551	-			456					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.1368C>G	CCDS3724.1																																																																																				0.353	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			15	36	0	0	0	1	0	15	36				
BIRC6	57448	broad.mit.edu	37	2	32738125	32738127	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:32738125_32738127delCTT	ENST00000421745.2	+	54	10606_10608	c.10472_10474delCTT	c.(10471-10476)ccttct>cct	p.S3492del		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3492					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCCATCTCCTTCTCATTTGCA	0.453																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10471-10476)cct>c		baculoviral IAP repeat containing 6																																				SO:0001651	inframe_deletion	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32738125_32738127delCTT	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10472_10474delCTT	2.37:g.32738125_32738127delCTT	ENSP00000393596:p.Ser3492del						p.PS3491del	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			54	10606_10608	+	Acute lymphoblastic leukemia(172;0.155)		3491					Q9ULD1	In_Frame_Del	DEL	ENST00000421745.2	37	c.10472_10474delCTT	CCDS33175.2																																																																																				0.453	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		44	78						44	78	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142141	75142142	+	RNA	INS	-	-	A	rs35519730	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:75142141_75142142insA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						gtctcaaaaagaaaaaaaaaaa	0.421																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75142141_75142142insA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142152_75142152dupA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	INS	ENST00000418756.1	37																																																																																						0.421	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		3	6						3	6	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	3	5						3	5	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401269	139401270	+	Frame_Shift_Ins	INS	-	-	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:139401269_139401270insC	ENST00000277541.6	-	23	3874_3875	c.3799_3800insG	c.(3799-3801)gatfs	p.D1267fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1267	EGF-like 33. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGTTGACATCCCCCTCACAG	0.658			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3799-3801)tgtfs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401269_139401270insC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3800dupG	9.37:g.139401274_139401274dupC	ENSP00000277541:p.Asp1267fs	HNSCC(8;0.001)					p.C1267fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	23	3874_3875	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1267			EGF-like 33.		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.3799_3800insG	CCDS43905.1																																																																																				0.658	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		18	21						18	21	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71724648	71724668	+	In_Frame_Del	DEL	CCTCCTCCCGGAGGCTCTGCA	CCTCCTCCCGGAGGCTCTGCA	-	rs377293607		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:71724648_71724668delCCTCCTCCCGGAGGCTCTGCA	ENST00000393695.3	-	15	4212_4232	c.3881_3901delTGCAGAGCCTCCGGGAGGAGG	c.(3880-3903)gtgcagagcctccgggaggaggct>gct	p.VQSLREE1294del	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Del_p.VQSLREE1294del	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGTTTCTCAGCCTCCTCCCGGAGGCTCTGCACCTCCTCCCG	0.638			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3880-3903)gct>g		nuclear mitotic apparatus protein 1																																				SO:0001651	inframe_deletion	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724648_71724668delCCTCCTCCCGGAGGCTCTGCA	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3881_3901delTGCAGAGCCTCCGGGAGGAGG	11.37:g.71724648_71724668delCCTCCTCCCGGAGGCTCTGCA	ENSP00000377298:p.Val1294_Glu1300del					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Del_p.VQSLREEA1294del	p.VQSLREEA1294del	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4212_4232	-			1294						In_Frame_Del	DEL	ENST00000393695.3	37	c.3881_3901delTGCAGAGCCTCCGGGAGGAGG	CCDS31633.1																																																																																				0.638	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			7	65						7	65	---	---	---	---
B2M	567	broad.mit.edu	37	15	45007673	45007674	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:45007673_45007674delAA	ENST00000558401.1	+	2	190_191	c.120_121delAA	c.(118-123)tcaaatfs	p.N41fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.N41fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.N41fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	41	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATGGAAAGTCAAATTTCCTGAA	0.401																																						ENST00000558401.1																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(118-123)tcatfs		beta-2-microglobulin																																				SO:0001589	frameshift_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007673_45007674delAA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.120_121delAA	15.37:g.45007673_45007674delAA	ENSP00000452780:p.Asn41fs					B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Del_p.SN40fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.SN40fs	p.SN40fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	190_191	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	40			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	c.120_121delAA	CCDS10113.1																																																																																				0.401	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		84	183						84	183	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27614198	27614208	+	Frame_Shift_Del	DEL	GATTTCCCTTT	GATTTCCCTTT	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:27614198_27614208delGATTTCCCTTT	ENST00000225388.4	-	2	862_872	c.804_814delAAAGGGAAATC	c.(802-816)caaaagggaaatcgafs	p.KGNR269fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	269						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R272*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCATCTACTCGATTTCCCTTTTGTTCACTAT	0.431																																						ENST00000225388.4																			1	Substitution - Nonsense(1)	p.R272*(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(802-816)cagafs		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001589	frameshift_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614198_27614208delGATTTCCCTTT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.804_814delAAAGGGAAATC	17.37:g.27614198_27614208delGATTTCCCTTT	ENSP00000225388:p.Lys269fs					NUFIP2_ENST00000579665.1_Intron	p.QKGNR268fs	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	862_872	-			268					A1L3A6|Q9P2M5	Frame_Shift_Del	DEL	ENST00000225388.4	37	c.804_814delAAAGGGAAATC	CCDS32600.1																																																																																				0.431	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		45	192						45	192	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	A	rs373528477		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:43590674_43590675insA	ENST00000579913.1	-	0	1289				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AACAAAAAAACAAAAAAAAAAC	0.332																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43590674_43590675insA	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43590684_43590684dupA						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.332	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	4						3	4	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8389878	8389879	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:8389878_8389879delTG	ENST00000593649.1	-	8	2103_2104	c.2038_2039delCA	c.(2038-2040)cagfs	p.Q680fs	KANK3_ENST00000330915.3_Frame_Shift_Del_p.Q680fs			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	680										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAAGAGTCTCTGGACCACAGCC	0.624																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2038-2040)gfs		KN motif and ankyrin repeat domains 3																																				SO:0001589	frameshift_variant	256949							g.chr19:8389878_8389879delTG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2038_2039delCA	19.37:g.8389878_8389879delTG	ENSP00000470728:p.Gln680fs					KANK3_ENST00000593649.1_Frame_Shift_Del_p.Q680fs	p.Q680fs	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			8	2103_2104	-			680					Q6NZI1|Q6ZQR3|Q8IUV2	Frame_Shift_Del	DEL	ENST00000593649.1	37	c.2038_2039delCA																																																																																					0.624	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		38	102						38	102	---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14044020	14044020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:14044020delC	ENST00000339560.5	-	8	1310	c.1037delG	c.(1036-1038)ggcfs	p.G346fs	PODNL1_ENST00000254320.3_Frame_Shift_Del_p.G264fs|PODNL1_ENST00000538517.2_Frame_Shift_Del_p.G255fs|PODNL1_ENST00000538371.2_Frame_Shift_Del_p.G344fs	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	346	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CAGCCCATTGCCATAGAGGTG	0.721																																						ENST00000538517.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(763-765)gcfs		podocan-like 1							4.0	6.0	5.0					19																	14044020		1948	3810	5758	SO:0001589	frameshift_variant	79883					proteinaceous extracellular matrix		g.chr19:14044020delC	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1037delG	19.37:g.14044020delC	ENSP00000345175:p.Gly346fs					PODNL1_ENST00000339560.5_Frame_Shift_Del_p.G346fs|PODNL1_ENST00000254320.3_Frame_Shift_Del_p.G264fs|PODNL1_ENST00000538371.2_Frame_Shift_Del_p.G344fs	p.G255fs	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		6	1008	-			346			Leu-rich.		B7Z564|Q9H5G9	Frame_Shift_Del	DEL	ENST00000339560.5	37	c.764delG	CCDS12300.1																																																																																				0.721	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		2	4						2	4	---	---	---	---
