#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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	79	0	0	0	1	0	4	79				
PI3	5266	broad.mit.edu	37	20	43804750	43804750	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr20:43804750G>A	ENST00000243924.3	+	2	375	c.328G>A	c.(328-330)Ggg>Agg	p.G110R		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	110	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G110W(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AGGCTCTTGCGGGATGGCCTG	0.552																																						ENST00000243924.3																			1	Substitution - Missense(1)	p.G110W(1)	lung(1)	large_intestine(1)|lung(5)|skin(1)	7						c.(328-330)Ggg>Agg		peptidase inhibitor 3, skin-derived							97.0	88.0	91.0					20																	43804750		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804750G>A	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.328G>A	20.37:g.43804750G>A	ENSP00000243924:p.Gly110Arg						p.G110R	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	375	+		Myeloproliferative disorder(115;0.0122)	110			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.328G>A	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503286	0.64298	.	.	ENSG00000124102	ENST00000243924	T	0.76839	-1.05	4.49	4.49	0.54785	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.41712	D	0.000832	D	0.90573	0.7045	H	0.94771	3.58	0.20764	N	0.999854	D	0.89917	1.0	D	0.97110	1.0	D	0.84168	0.0432	10	0.87932	D	0	.	13.4053	0.60908	0.0:0.0:1.0:0.0	.	110	P19957	ELAF_HUMAN	R	110	ENSP00000243924:G110R	ENSP00000243924:G110R	G	+	1	0	PI3	43238164	0.355000	0.24921	0.078000	0.20375	0.101000	0.19017	1.438000	0.35002	2.432000	0.82394	0.650000	0.86243	GGG		0.552	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		4	52	0	0	0	1	0	4	52				
ZMIZ2	83637	broad.mit.edu	37	7	44799776	44799776	+	Silent	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:44799776C>T	ENST00000309315.4	+	8	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000413916.1_Intron	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACGGGCAGGGCGCCAGCTTCA	0.687																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1018-1020)ggC>ggT		zinc finger, MIZ-type containing 2							29.0	36.0	34.0					7																	44799776		2021	4171	6192	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44799776C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1020C>T	7.37:g.44799776C>T						ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron	p.G340G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			8	1143	+			340			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1020C>T	CCDS43576.1																																																																																				0.687	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		4	28	0	0	0	1	0	4	28				
SEMA4F	10505	broad.mit.edu	37	2	74889931	74889931	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:74889931C>T	ENST00000357877.2	+	5	678	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	177	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCCAGCTCAGCGGTCAGCAGC	0.507																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(529-531)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							131.0	129.0	129.0					2																	74889931		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74889931C>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.529C>T	2.37:g.74889931C>T	ENSP00000350547:p.Arg177Trp					SEMA4F_ENST00000339773.5_Intron	p.R177W	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			5	678	+			177			Sema.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.529C>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083095	0.76642	.	.	ENSG00000135622	ENST00000357877;ENST00000434486	T;T	0.31510	1.49;1.49	5.46	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.076535	0.56097	D	0.000038	T	0.46367	0.1389	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.978	T	0.40021	-0.9585	10	0.66056	D	0.02	.	9.1814	0.37143	0.0:0.9038:0.0:0.0962	.	144;177	C9K0A1;O95754	.;SEM4F_HUMAN	W	177;144	ENSP00000350547:R177W;ENSP00000407698:R144W	ENSP00000350547:R177W	R	+	1	2	SEMA4F	74743439	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.020000	0.30027	2.557000	0.86248	0.655000	0.94253	CGG		0.507	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		26	87	0	0	0	1	0	26	87				
PSG11	5680	broad.mit.edu	37	19	43529017	43529017	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr19:43529017C>T	ENST00000401740.1	-	2	359	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G86S|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	86	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATTATTTGACCGTCTACTACA	0.448																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(256-258)Ggt>Agt		pregnancy specific beta-1-glycoprotein 11							177.0	171.0	173.0					19																	43529017		2199	4296	6495	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43529017C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.256G>A	19.37:g.43529017C>T	ENSP00000384995:p.Gly86Ser					PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G86S	p.G86S			Q9UQ72	PSG11_HUMAN			2	359	-		Prostate(69;0.00682)	86			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.256G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.338143	0.01287	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.63913	-0.07;-0.07	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32376	0.0827	N	0.05230	-0.09	0.09310	N	1	B	0.21688	0.059	B	0.21917	0.037	T	0.20438	-1.0275	9	0.10111	T	0.7	.	6.4413	0.21851	0.0:0.6647:0.0:0.3353	.	86	Q9UQ72	PSG11_HUMAN	S	86	ENSP00000319140:G86S;ENSP00000384995:G86S	ENSP00000319140:G86S	G	-	1	0	PSG11	48220857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.611000	0.02062	-1.529000	0.01754	-1.499000	0.00960	GGT		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		11	202	0	0	0	1	0	11	202				
PLCG2	5336	broad.mit.edu	37	16	81891938	81891938	+	Silent	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr16:81891938G>A	ENST00000359376.3	+	4	622	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	136					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(406-408)gcG>gcA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							134.0	134.0	134.0					16																	81891938		2036	4204	6240	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81891938G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.408G>A	16.37:g.81891938G>A						PLCG2_ENST00000565400.1_3'UTR	p.A136A	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			4	622	+			136					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.408G>A	CCDS42204.1																																																																																				0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			13	72	0	0	0	1	0	13	72				
DRD5	1816	broad.mit.edu	37	4	9784459	9784459	+	Missense_Mutation	SNP	C	C	T	rs538877978		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr4:9784459C>T	ENST00000304374.2	+	1	1202	c.806C>T	c.(805-807)gCg>gTg	p.A269V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	269			A -> V (in dbSNP:rs2227842). {ECO:0000269|PubMed:7633397}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAGAGCACGCGCAGAGCTGC	0.632																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(805-807)gCg>gTg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						26.0	25.0	25.0					4																	9784459		2202	4296	6498	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784459C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.806C>T	4.37:g.9784459C>T	ENSP00000306129:p.Ala269Val						p.A269V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1202	+			269		A -> V (in dbSNP:rs2227842).			B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.806C>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	18.96	3.734075	0.69189	.	.	ENSG00000169676	ENST00000304374	T	0.68025	-0.3	4.6	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.65320	2	0.58432	D	0.999992	P	0.41420	0.749	B	0.35312	0.2	T	0.61118	-0.7127	10	0.41790	T	0.15	.	11.6228	0.51128	0.0:0.9145:0.0:0.0855	rs2227842	269	P21918	DRD5_HUMAN	V	269	ENSP00000306129:A269V	ENSP00000306129:A269V	A	+	2	0	DRD5	9393557	1.000000	0.71417	0.992000	0.48379	0.779000	0.44077	5.533000	0.67160	1.163000	0.42636	0.305000	0.20034	GCG		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	26	0	0	0	1	0	4	26				
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.P177R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCATGGTGGGGGCAGCGCCT	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(529-531)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							48.0	48.0	48.0					17																	7578400		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578400G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R	p.P177R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	662	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.530C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	41	0	0	0	1	0	16	41				
CELSR1	9620	broad.mit.edu	37	22	46806424	46806424	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr22:46806424C>T	ENST00000262738.3	-	7	4803	c.4804G>A	c.(4804-4806)Ggt>Agt	p.G1602S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1602	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGGGACACCCCCCAGGAGT	0.642																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4804-4806)Ggt>Agt		cadherin, EGF LAG seven-pass G-type receptor 1							68.0	62.0	64.0					22																	46806424		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46806424C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4804G>A	22.37:g.46806424C>T	ENSP00000262738:p.Gly1602Ser						p.G1602S	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4803	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1602			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4804G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184077	0.78677	.	.	ENSG00000075275	ENST00000262738	D	0.97378	-4.36	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.98845	0.9610	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99799	1.1035	10	0.87932	D	0	.	17.3404	0.87294	0.0:1.0:0.0:0.0	.	1602	Q9NYQ6	CELR1_HUMAN	S	1602	ENSP00000262738:G1602S	ENSP00000262738:G1602S	G	-	1	0	CELSR1	45185088	1.000000	0.71417	0.952000	0.39060	0.265000	0.26407	7.215000	0.77966	2.178000	0.69098	0.655000	0.94253	GGT		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	50	0	0	0	1	0	3	50				
IGKV1-9	28941	broad.mit.edu	37	2	89309619	89309619	+	RNA	SNP	A	A	G	rs573323375		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:89309619A>G	ENST00000493819.1	-	0	268									immunoglobulin kappa variable 1-9																		GATGCAGCATAGATCAGGAGC	0.522																																						ENST00000493819.1																			0																				117.0	112.0	113.0					2																	89309619		1830	4065	5895			0							g.chr2:89309619A>G	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309619A>G														0	268	-									RNA	SNP	ENST00000493819.1	37																																																																																						0.522	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		40	138	0	0	0	1	0	40	138				
ITGA7	3679	broad.mit.edu	37	12	56088563	56088563	+	Splice_Site	SNP	G	G	A	rs368879643	byFrequency	TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:56088563G>A	ENST00000555728.1	-	16	2355	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	ITGA7_ENST00000257880.7_Splice_Site_p.A776V|ITGA7_ENST00000452168.2_Splice_Site_p.A639V|ITGA7_ENST00000553804.1_Splice_Site_p.A736V|ITGA7_ENST00000394230.2_Splice_Site_p.A736V|ITGA7_ENST00000257879.6_Splice_Site_p.A732V|ITGA7_ENST00000347027.6_Splice_Site_p.A726V|ITGA7_ENST00000394229.2_Splice_Site_p.A732V			Q13683	ITA7_HUMAN	integrin, alpha 7	776					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.A732V(1)|p.A736V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTCCTCACCGCAGGGTCCAG	0.637													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16007	0.0		0.0	False		,,,				2504	0.001					ENST00000257880.7																			2	Substitution - Missense(2)	p.A732V(1)|p.A736V(1)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e16+1		integrin, alpha 7							43.0	47.0	45.0					12																	56088563		2203	4300	6503	SO:0001630	splice_region_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088563G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2328+1C>T	12.37:g.56088563G>A						ITGA7_ENST00000553804.1_Splice_Site_p.A736_splice|ITGA7_ENST00000394229.2_Splice_Site_p.A732_splice|ITGA7_ENST00000394230.2_Splice_Site_p.A736_splice|ITGA7_ENST00000452168.2_Splice_Site_p.A639_splice|ITGA7_ENST00000555728.1_Splice_Site_p.A776_splice|ITGA7_ENST00000347027.6_Splice_Site_p.A726_splice|ITGA7_ENST00000257879.6_Splice_Site_p.A732_splice	p.A776_splice			Q13683	ITA7_HUMAN			16	2546	-			776					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Splice_Site	SNP	ENST00000555728.1	37	c.2328_splice		.	.	.	.	.	.	.	.	.	.	G	12.69	2.012668	0.35511	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.66	0.476	0.16779	Integrin alpha-2 (1);	9.079770	0.00166	N	0.000015	T	0.23451	0.0567	N	0.08118	0	0.50171	D	0.99985	B;B;B;B	0.18968	0.002;0.001;0.001;0.032	B;B;B;B	0.14023	0.003;0.009;0.002;0.01	T	0.13072	-1.0523	10	0.29301	T	0.29	.	4.213	0.10521	0.3073:0.1703:0.5224:0.0	.	639;776;736;795	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	V	736;732;726;639;776;736;732;605;776	ENSP00000452120:A736V;ENSP00000257879:A732V;ENSP00000343009:A726V;ENSP00000393844:A639V;ENSP00000257880:A776V;ENSP00000377777:A736V;ENSP00000377776:A732V;ENSP00000452387:A776V	ENSP00000257879:A732V	A	-	2	0	ITGA7	54374830	0.002000	0.14202	0.992000	0.48379	0.955000	0.61496	-0.247000	0.08866	-0.121000	0.11787	0.555000	0.69702	GCG		0.637	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	Missense_Mutation	7	52	0	0	0	1	0	7	52				
NAV2	89797	broad.mit.edu	37	11	20119208	20119208	+	Missense_Mutation	SNP	G	G	A	rs200685939		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:20119208G>A	ENST00000396087.3	+	34	6374	c.6275G>A	c.(6274-6276)cGc>cAc	p.R2092H	NAV2_ENST00000396085.1_Missense_Mutation_p.R2036H|NAV2_ENST00000349880.4_Missense_Mutation_p.R2033H|NAV2_ENST00000311043.8_Missense_Mutation_p.R1097H|NAV2_ENST00000533917.1_Missense_Mutation_p.R1097H|NAV2_ENST00000527559.2_Missense_Mutation_p.R2021H|NAV2_ENST00000540292.1_Missense_Mutation_p.R2023H|NAV2_ENST00000360655.4_Missense_Mutation_p.R1969H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2092					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAATCAAGCGCAGCAACACT	0.468																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6106-6108)cGc>cAc		neuron navigator 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	126.0	120.0	122.0		5906,3290,6098,6107	6.1	0.9	11		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1969/2366,1097/1494,2033/2430,2036/2433	20119208	2,13004	2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20119208G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6275G>A	11.37:g.20119208G>A	ENSP00000379396:p.Arg2092His					NAV2_ENST00000360655.4_Missense_Mutation_p.R1969H|NAV2_ENST00000349880.4_Missense_Mutation_p.R2033H|NAV2_ENST00000311043.8_Missense_Mutation_p.R1097H|NAV2_ENST00000533917.1_Missense_Mutation_p.R1097H|NAV2_ENST00000527559.2_Missense_Mutation_p.R2021H|NAV2_ENST00000396087.3_Missense_Mutation_p.R2092H|NAV2_ENST00000540292.1_Missense_Mutation_p.R2023H	p.R2036H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			32	6468	+			2092					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6107G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274022	0.80580	0.0	2.33E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.41400	1.0;1.1;1.09;1.2;1.1;1.1;2.64;2.64	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000002	T	0.70850	0.3271	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.71290	-0.4637	9	.	.	.	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	2036;1097;2033;1969	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	H	1969;2036;2033;2092;2021;2023;1097;1097	ENSP00000353871:R1969H;ENSP00000379394:R2036H;ENSP00000309577:R2033H;ENSP00000379396:R2092H;ENSP00000435395:R2021H;ENSP00000443489:R2023H;ENSP00000437316:R1097H;ENSP00000312169:R1097H	.	R	+	2	0	NAV2	20075784	1.000000	0.71417	0.890000	0.34922	0.049000	0.14656	5.781000	0.68964	2.894000	0.99253	0.655000	0.94253	CGC		0.468	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	75	0	0	0	1	0	13	75				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	43	0	0	0	1	0	8	43				
TARS	6897	broad.mit.edu	37	5	33459873	33459873	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr5:33459873C>T	ENST00000265112.3	+	11	1468	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	TARS_ENST00000502553.1_Missense_Mutation_p.S386L|TARS_ENST00000455217.2_Missense_Mutation_p.S419L|TARS_ENST00000541634.1_Missense_Mutation_p.S282L|TARS_ENST00000414361.2_Missense_Mutation_p.S265L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	386					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGATGACCTCGGGCCACTGG	0.493																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1156-1158)tCg>tTg		threonyl-tRNA synthetase	L-Threonine(DB00156)						96.0	96.0	96.0					5																	33459873		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33459873C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1157C>T	5.37:g.33459873C>T	ENSP00000265112:p.Ser386Leu					TARS_ENST00000541634.1_Missense_Mutation_p.S282L|TARS_ENST00000414361.2_Missense_Mutation_p.S265L|TARS_ENST00000502553.1_Missense_Mutation_p.S386L|TARS_ENST00000455217.2_Missense_Mutation_p.S419L	p.S386L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			11	1468	+			386					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1157C>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454231	0.96223	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.9	5.9	0.94986	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	H	0.99991	5.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.993;1.0	D	0.97089	0.9789	10	0.87932	D	0	-4.8801	20.2822	0.98520	0.0:1.0:0.0:0.0	.	265;419;282;386	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	L	386;386;282;419;265	ENSP00000424387:S386L;ENSP00000265112:S386L;ENSP00000438469:S282L;ENSP00000387710:S419L;ENSP00000394291:S265L	ENSP00000265112:S386L	S	+	2	0	TARS	33495630	1.000000	0.71417	0.991000	0.47740	0.794000	0.44872	7.818000	0.86416	2.806000	0.96561	0.655000	0.94253	TCG		0.493	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		12	65	0	0	0	1	0	12	65				
KIF5A	3798	broad.mit.edu	37	12	57963897	57963897	+	Silent	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:57963897G>A	ENST00000455537.2	+	12	1519	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	KIF5A_ENST00000286452.5_Silent_p.Q326Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	415					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGAGCGGCAGAAATACGAGG	0.632																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1243-1245)caG>caA		kinesin family member 5A							49.0	40.0	43.0					12																	57963897		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963897G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1245G>A	12.37:g.57963897G>A						KIF5A_ENST00000286452.5_Silent_p.Q326Q	p.Q415Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			12	1519	+			415					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.1245G>A	CCDS8945.1																																																																																				0.632	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		6	24	0	0	0	1	0	6	24				
PROKR2	128674	broad.mit.edu	37	20	5294673	5294673	+	Missense_Mutation	SNP	C	C	T	rs138672528		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr20:5294673C>T	ENST00000217270.3	-	1	342	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	PROKR2_ENST00000546004.1_Missense_Mutation_p.V115M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	115			V -> M (in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries a mutation in PROK2). {ECO:0000269|PubMed:23643382}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V115M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCCGTACCACGTAGTAGTCC	0.587										HNSCC(71;0.22)			C|||	1	0.000199681	0.0	0.0	5008	,	,		21599	0.001		0.0	False		,,,				2504	0.0					ENST00000546004.1																			1	Substitution - Missense(1)	p.V115M(1)	endometrium(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53	GRCh37	CM083838	PROKR2	M	rs138672528	c.(343-345)Gtg>Atg		prokineticin receptor 2		C	MET/VAL	0,4406		0,0,2203	136.0	104.0	115.0		343	5.3	1.0	20	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	PROKR2	NM_144773.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	115/385	5294673	2,13004	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294673C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.343G>A	20.37:g.5294673C>T	ENSP00000217270:p.Val115Met	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.V115M	p.V115M			Q8NFJ6	PKR2_HUMAN			2	589	-			115					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.343G>A	CCDS13089.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.58	3.425811	0.62733	0.0	2.33E-4	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.74526	-0.85;-0.85	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85483	0.5707	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86326	0.1695	10	0.62326	D	0.03	.	16.8404	0.85967	0.0:1.0:0.0:0.0	.	115	Q8NFJ6	PKR2_HUMAN	M	115	ENSP00000440790:V115M;ENSP00000217270:V115M	ENSP00000217270:V115M	V	-	1	0	PROKR2	5242673	1.000000	0.71417	0.994000	0.49952	0.083000	0.17756	7.747000	0.85070	2.637000	0.89404	0.655000	0.94253	GTG		0.587	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		13	37	0	0	0	1	0	13	37				
OR10W1	81341	broad.mit.edu	37	11	58034735	58034735	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:58034735G>T	ENST00000395079.2	-	1	997	c.596C>A	c.(595-597)gCt>gAt	p.A199D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAAAGGCACAGCAATGGCTAG	0.547																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(595-597)gCt>gAt		olfactory receptor, family 10, subfamily W, member 1							104.0	86.0	92.0					11																	58034735		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034735G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.596C>A	11.37:g.58034735G>T	ENSP00000378516:p.Ala199Asp						p.A199D	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	997	-		Breast(21;0.0589)	199					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.596C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	g	16.81	3.226310	0.58668	.	.	ENSG00000172772	ENST00000395079	T	0.38401	1.14	5.86	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.139201	0.33005	N	0.005384	T	0.44871	0.1314	M	0.71036	2.16	0.09310	N	1	D	0.54397	0.966	P	0.49192	0.602	T	0.46005	-0.9222	10	0.59425	D	0.04	.	10.3049	0.43674	0.1919:0.0:0.8081:0.0	.	199	Q8NGF6	O10W1_HUMAN	D	199	ENSP00000378516:A199D	ENSP00000378516:A199D	A	-	2	0	OR10W1	57791311	0.000000	0.05858	0.682000	0.30024	0.921000	0.55340	-0.003000	0.12901	1.442000	0.47568	0.651000	0.88453	GCT		0.547	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		3	28	1	0	0.115264	1	0.117286	3	28				
ZNF99	7652	broad.mit.edu	37	19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr19:22941154C>G	ENST00000596209.1	-	4	1647	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K428N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1282-1284)aaG>aaC		zinc finger protein 99							36.0	37.0	37.0					19																	22941154		2012	4190	6202	SO:0001583	missense	7652							g.chr19:22941154C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1557G>C	19.37:g.22941154C>G	ENSP00000472969:p.Lys519Asn					ZNF99_ENST00000596209.1_Missense_Mutation_p.K519N	p.K428N							5	1283	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1284G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.118307	0.00349	.	.	ENSG00000213973	ENST00000397104	T	0.07567	3.18	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46721	-0.9171	9	0.14252	T	0.57	.	1.8516	0.03170	0.1596:0.3714:0.3123:0.1568	.	428	A8MXY4	ZNF99_HUMAN	N	428	ENSP00000380293:K428N	ENSP00000380293:K428N	K	-	3	2	ZNF99	22732994	0.000000	0.05858	0.002000	0.10522	0.184000	0.23303	-7.212000	0.00041	-1.397000	0.02068	-1.031000	0.02408	AAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	62	0	0	0	1	0	4	62				
CAPN15	6650	broad.mit.edu	37	16	603374	603374	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr16:603374A>G	ENST00000219611.2	+	14	3482	c.3119A>G	c.(3118-3120)aAc>aGc	p.N1040S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1040					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTAGAGGGCAACGCCGGCTTC	0.677																																						ENST00000219611.2																			0											c.(3118-3120)aAc>aGc		calpain 15							57.0	59.0	58.0					16																	603374		2200	4299	6499	SO:0001583	missense	6650							g.chr16:603374A>G	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3119A>G	16.37:g.603374A>G	ENSP00000219611:p.Asn1040Ser					LA16c-366D1.3_ENST00000565879.1_RNA	p.N1040S	NM_005632.2	NP_005623.1					14	3482	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.3119A>G	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	a	5.057	0.196105	0.09599	.	.	ENSG00000103326	ENST00000219611	D	0.87103	-2.21	4.9	3.8	0.43715	.	0.252628	0.43416	D	0.000563	T	0.76948	0.4059	N	0.01576	-0.805	0.49389	D	0.999784	D	0.69078	0.997	D	0.75020	0.985	T	0.74668	-0.3588	10	0.02654	T	1	.	9.2015	0.37260	0.912:0.0:0.088:0.0	.	1040	O75808	CAN15_HUMAN	S	1040	ENSP00000219611:N1040S	ENSP00000219611:N1040S	N	+	2	0	SOLH	543375	1.000000	0.71417	0.990000	0.47175	0.688000	0.40055	6.645000	0.74343	1.969000	0.57287	0.414000	0.27820	AAC		0.677	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		21	41	0	0	0	1	0	21	41				
C7orf31	136895	broad.mit.edu	37	7	25182283	25182283	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:25182283T>C	ENST00000409280.1	-	8	1143	c.835A>G	c.(835-837)Act>Gct	p.T279A	C7orf31_ENST00000283905.3_Missense_Mutation_p.T279A			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	279										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTGTACGAAGTGAGCCAGTGG	0.358																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(835-837)Act>Gct		chromosome 7 open reading frame 31							72.0	75.0	74.0					7																	25182283		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25182283T>C	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.835A>G	7.37:g.25182283T>C	ENSP00000386604:p.Thr279Ala					C7orf31_ENST00000283905.3_Missense_Mutation_p.T279A	p.T279A			Q8N865	CG031_HUMAN			8	1143	-			279					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.835A>G	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591370	0.46214	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.10192	2.9;2.9	5.67	1.73	0.24493	.	0.277118	0.32386	N	0.006176	T	0.12178	0.0296	M	0.75264	2.295	0.30980	N	0.722547	P	0.44521	0.837	B	0.38264	0.269	T	0.10660	-1.0620	10	0.72032	D	0.01	24.0361	7.1302	0.25496	0.3626:0.0:0.1257:0.5117	.	279	Q8N865	CG031_HUMAN	A	279	ENSP00000386604:T279A;ENSP00000283905:T279A	ENSP00000283905:T279A	T	-	1	0	C7orf31	25148808	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.064000	0.30579	0.043000	0.15746	0.402000	0.26972	ACT		0.358	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		12	53	0	0	0	1	0	12	53				
PITRM1	10531	broad.mit.edu	37	10	3185630	3185630	+	Missense_Mutation	SNP	C	C	T	rs371412408		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr10:3185630C>T	ENST00000224949.4	-	23	2630	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M	PITRM1_ENST00000451104.2_Missense_Mutation_p.V768M|PITRM1_ENST00000380994.1_Missense_Mutation_p.V424M|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.V867M|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	866					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTCACCCACGTAATTCACC	0.587																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2599-2601)Gtg>Atg		pitrilysin metallopeptidase 1		C	MET/VAL,MET/VAL,MET/VAL	0,4114		0,0,2057	112.0	118.0	116.0		2596,2302,2599	3.1	0.0	10		116	2,8374		0,2,4186	no	missense,missense,missense	PITRM1	NM_014889.3,NM_001242309.1,NM_001242307.1	21,21,21	0,2,6243	TT,TC,CC		0.0239,0.0,0.016	benign,benign,benign	866/1038,768/940,867/1039	3185630	2,12488	2057	4188	6245	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3185630C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2596G>A	10.37:g.3185630C>T	ENSP00000224949:p.Val866Met					PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.V768M|PITRM1_ENST00000224949.4_Missense_Mutation_p.V866M|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.V424M	p.V867M	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			23	2637	-			768					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2599G>A	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.321|9.321	1.058072|1.058072	0.19987|0.19987	0.0|0.0	2.39E-4|2.39E-4	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	4.96|4.96	3.07|3.07	0.35406|0.35406	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.367629	.|0.30686	.|N	.|0.009094	T|T	0.41743|0.41743	0.1172|0.1172	M|M	0.73962|0.73962	2.25|2.25	0.31685|0.31685	N|N	0.642644|0.642644	.|P;B;B;B;B	.|0.35894	.|0.526;0.036;0.35;0.35;0.35	.|B;B;B;B;B	.|0.37239	.|0.148;0.019;0.164;0.164;0.244	T|T	0.50906|0.50906	-0.8772|-0.8772	5|10	.|0.48119	.|T	.|0.1	-18.2683|-18.2683	8.186|8.186	0.31339|0.31339	0.0:0.6614:0.0:0.3386|0.0:0.6614:0.0:0.3386	.|.	.|859;768;867;866;859	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	H|M	199|866;859;867;424;768;47	.|ENSP00000224949:V866M;ENSP00000370377:V867M;ENSP00000370382:V424M;ENSP00000401201:V768M;ENSP00000399307:V47M	.|ENSP00000224949:V866M	R|V	-|-	2|1	0|0	PITRM1|PITRM1	3175630|3175630	0.036000|0.036000	0.19791|0.19791	0.005000|0.005000	0.12908|0.12908	0.056000|0.056000	0.15407|0.15407	0.343000|0.343000	0.19944|0.19944	0.484000|0.484000	0.27630|0.27630	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.587	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			15	45	0	0	0	1	0	15	45				
TMEM260	54916	broad.mit.edu	37	14	57075905	57075905	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr14:57075905T>C	ENST00000261556.6	+	6	840	c.718T>C	c.(718-720)Tct>Cct	p.S240P	TMEM260_ENST00000538838.1_Missense_Mutation_p.S240P|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	240						integral component of membrane (GO:0016021)											TCCCATCTCATCTTACCTTAA	0.502																																						ENST00000261556.6																			0											c.(718-720)Tct>Cct		transmembrane protein 260							267.0	255.0	259.0					14																	57075905		2203	4300	6503	SO:0001583	missense	54916							g.chr14:57075905T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.718T>C	14.37:g.57075905T>C	ENSP00000261556:p.Ser240Pro					TMEM260_ENST00000538838.1_Missense_Mutation_p.S240P|TMEM260_ENST00000536419.1_5'UTR	p.S240P	NM_017799.3	NP_060269.3					6	840	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.718T>C	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036953	0.54896	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.51574	1.33;0.7	6.06	4.89	0.63831	.	0.107476	0.64402	D	0.000003	T	0.58004	0.2092	L	0.43646	1.37	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.54118	-0.8341	10	0.33940	T	0.23	-9.6812	12.539	0.56158	0.125:0.0:0.0:0.875	.	240	Q9NX78	CN101_HUMAN	P	240	ENSP00000261556:S240P;ENSP00000441934:S240P	ENSP00000261556:S240P	S	+	1	0	C14orf101	56145658	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	7.930000	0.87610	1.073000	0.40885	0.528000	0.53228	TCT		0.502	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		37	151	0	0	0	1	0	37	151				
ASAP1	50807	broad.mit.edu	37	8	131130463	131130463	+	Silent	SNP	G	G	A	rs371153344		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr8:131130463G>A	ENST00000518721.1	-	20	2051	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	ASAP1_ENST00000357668.1_Silent_p.A608A	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	608					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGTTCGGACGGCAAGGTGAA	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19337	0.0		0.0	False		,,,				2504	0.0					ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1822-1824)gcC>gcT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1		G		2,4404	4.2+/-10.8	0,2,2201	73.0	72.0	72.0		1824	-8.5	0.9	8		72	0,8600		0,0,4300	no	coding-synonymous	ASAP1	NM_018482.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		608/1130	131130463	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130463G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1824C>T	8.37:g.131130463G>A						ASAP1_ENST00000518721.1_Silent_p.A608A	p.A608A			Q9ULH1	ASAP1_HUMAN			19	1851	-			608					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.1824C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502877	0.26949	4.54E-4	0.0	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.8	-8.54	0.00912	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	.	1.0078	0.01491	0.2323:0.1841:0.3514:0.2322	.	.	.	.	C	429;22	.	.	R	-	1	0	ASAP1	131199645	0.809000	0.29036	0.906000	0.35671	0.989000	0.77384	-0.133000	0.10451	-1.140000	0.02877	-0.271000	0.10264	CGT		0.408	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		4	18	0	0	0	1	0	4	18				
KIAA1211L	343990	broad.mit.edu	37	2	99448880	99448880	+	Silent	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:99448880G>A	ENST00000397899.2	-	5	802	c.471C>T	c.(469-471)gaC>gaT	p.D157D	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	157								p.D157D(2)									GCAGCCCGTCGTCCTCAGAGC	0.587																																						ENST00000397899.2																			2	Substitution - coding silent(2)	p.D157D(2)	endometrium(1)|kidney(1)								c.(469-471)gaC>gaT		KIAA1211-like							60.0	68.0	66.0					2																	99448880		1943	4143	6086	SO:0001819	synonymous_variant	343990							g.chr2:99448880G>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.471C>T	2.37:g.99448880G>A						KIAA1211L_ENST00000462314.1_5'UTR	p.D157D	NM_207362.2	NP_997245.2					5	802	-									Silent	SNP	ENST00000397899.2	37	c.471C>T	CCDS42720.1																																																																																				0.587	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		12	39	0	0	0	1	0	12	39				
MED12	9968	broad.mit.edu	37	X	70349256	70349256	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chrX:70349256T>G	ENST00000374080.3	+	26	3700	c.3668T>G	c.(3667-3669)gTt>gGt	p.V1223G	MED12_ENST00000333646.6_Missense_Mutation_p.V1223G|MED12_ENST00000374102.1_Missense_Mutation_p.V1223G			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGTTTGCTGTTCTCAAGGCT	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)gTt>gGt		mediator complex subunit 12							50.0	52.0	51.0					X																	70349256		2088	4190	6278	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349256T>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3668T>G	X.37:g.70349256T>G	ENSP00000363193:p.Val1223Gly		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.V1223G|MED12_ENST00000374102.1_Missense_Mutation_p.V1223G	p.V1223G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3867	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3668T>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.003063	0.74932	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.72353	2.195	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;0.997;0.999;0.997	T	0.63937	-0.6524	10	0.87932	D	0	-14.5208	14.2257	0.65858	0.0:0.0:0.0:1.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	G	1223;1223;1223;1223;1191	ENSP00000333125:V1223G;ENSP00000363215:V1223G;ENSP00000363193:V1223G;ENSP00000414203:V1191G	ENSP00000333125:V1223G	V	+	2	0	MED12	70265981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.283000	0.78640	2.003000	0.58678	0.430000	0.28490	GTT		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		12	9	0	0	0	1	0	12	9				
POLR2B	5431	broad.mit.edu	37	4	57889904	57889904	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr4:57889904A>G	ENST00000381227.1	+	21	3256	c.2843A>G	c.(2842-2844)cAg>cGg	p.Q948R	POLR2B_ENST00000441246.2_Missense_Mutation_p.Q941R|POLR2B_ENST00000431623.2_Missense_Mutation_p.Q873R|POLR2B_ENST00000314595.5_Missense_Mutation_p.Q948R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	948					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTGGTATTCAGTATAGACAA	0.333																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2842-2844)cAg>cGg		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							88.0	86.0	87.0					4																	57889904		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889904A>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2843A>G	4.37:g.57889904A>G	ENSP00000370625:p.Gln948Arg					POLR2B_ENST00000314595.5_Missense_Mutation_p.Q948R|POLR2B_ENST00000441246.2_Missense_Mutation_p.Q941R|POLR2B_ENST00000431623.2_Missense_Mutation_p.Q873R	p.Q948R			P30876	RPB2_HUMAN			21	3256	+	Glioma(25;0.08)|all_neural(26;0.181)		948					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2843A>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456979	0.63401	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.86	5.86	0.93980	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	N	0.12961	0.28	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.55398	-0.8147	10	0.66056	D	0.02	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	873;948	C9J4M6;P30876	.;RPB2_HUMAN	R	948;873;941;948	ENSP00000370625:Q948R;ENSP00000391096:Q873R;ENSP00000391452:Q941R;ENSP00000312735:Q948R	ENSP00000312735:Q948R	Q	+	2	0	POLR2B	57584661	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.326000	0.96389	2.237000	0.73441	0.460000	0.39030	CAG		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		14	42	0	0	0	1	0	14	42				
NAV1	89796	broad.mit.edu	37	1	201777624	201777624	+	Silent	SNP	G	G	A	rs367990498		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr1:201777624G>A	ENST00000367296.4	+	19	4344	c.3924G>A	c.(3922-3924)tcG>tcA	p.S1308S	NAV1_ENST00000367302.1_Silent_p.S1261S|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367297.4_Silent_p.S1300S|NAV1_ENST00000367300.3_Silent_p.S1248S|NAV1_ENST00000367295.1_Silent_p.S914S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.S1305S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1308					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1305S(1)		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						AGGAGGTATCGGAGCTGCGCT	0.562																																						ENST00000367296.4																			1	Substitution - coding silent(1)	p.S1305S(1)	lung(1)	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.(3922-3924)tcG>tcA		neuron navigator 1			,	0,4406		0,0,2203	69.0	70.0	70.0		2742,3924	-11.1	0.1	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NAV1	NM_001167738.1,NM_020443.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	914/1484,1308/1878	201777624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201777624G>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.3924G>A	1.37:g.201777624G>A						NAV1_ENST00000367297.4_Silent_p.S1300S|NAV1_ENST00000367295.1_Silent_p.S914S|NAV1_ENST00000295624.6_Silent_p.S1305S|NAV1_ENST00000367302.1_Silent_p.S1261S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.S1248S	p.S1308S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			19	4344	+			1308					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3924G>A	CCDS1414.2																																																																																				0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		3	26	0	0	0	1	0	3	26				
HLA-DOA	3111	broad.mit.edu	37	6	32975186	32975186	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr6:32975186C>T	ENST00000229829.5	-	3	590	c.515G>A	c.(514-516)cGc>cAc	p.R172H	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGGAACTTGCGGAACAAATG	0.597																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(514-516)cGc>cAc		major histocompatibility complex, class II, DO alpha							173.0	174.0	174.0					6																	32975186		1511	2709	4220	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975186C>T	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.515G>A	6.37:g.32975186C>T	ENSP00000229829:p.Arg172His					HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	p.R172H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			3	590	-			172			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.515G>A	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012953	0.35511	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.02916	4.11;4.11	4.64	4.64	0.57946	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.343498	0.30630	N	0.009210	T	0.02304	0.0071	N	0.11255	0.115	0.37354	D	0.910927	D;P	0.89917	1.0;0.717	D;B	0.69307	0.963;0.115	T	0.69503	-0.5128	10	0.15499	T	0.54	.	15.4237	0.75035	0.0:1.0:0.0:0.0	.	142;172	B4DW77;P06340	.;DOA_HUMAN	H	172;142	ENSP00000229829:R172H;ENSP00000403896:R142H	ENSP00000229829:R172H	R	-	2	0	HLA-DOA	33083164	0.986000	0.35501	0.998000	0.56505	0.925000	0.55904	0.510000	0.22723	2.565000	0.86533	0.655000	0.94253	CGC		0.597	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		4	111	0	0	0	1	0	4	111				
HGF	3082	broad.mit.edu	37	7	81339552	81339552	+	Silent	SNP	T	T	G			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:81339552T>G	ENST00000222390.5	-	13	1678	c.1452A>C	c.(1450-1452)gtA>gtC	p.V484V	HGF_ENST00000457544.2_Silent_p.V479V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	484					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CACAAGATATTACGGGATCTG	0.313																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1450-1452)gtA>gtC		hepatocyte growth factor (hepapoietin A; scatter factor)							120.0	107.0	112.0					7																	81339552		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81339552T>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1452A>C	7.37:g.81339552T>G						HGF_ENST00000457544.2_Silent_p.V479V	p.V484V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			13	1678	-			484					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.1452A>C	CCDS5597.1																																																																																				0.313	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		13	69	0	0	0	1	0	13	69				
MYT1L	23040	broad.mit.edu	37	2	1926499	1926499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:1926499C>A	ENST00000399161.2	-	10	1789	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E348*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	348					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGATTCCTCTCCTGCGGGTTG	0.572																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1042-1044)Gag>Tag		myelin transcription factor 1-like							51.0	56.0	54.0					2																	1926499		2120	4234	6354	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926499C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1042G>T	2.37:g.1926499C>A	ENSP00000382114:p.Glu348*					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E348*	p.E348*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1789	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	348					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.1042G>T		.	.	.	.	.	.	.	.	.	.	C	41	9.138691	0.99078	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	5.75	0.90469	.	0.468764	0.23038	N	0.052646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.4218	19.9447	0.97177	0.0:1.0:0.0:0.0	.	.	.	.	X	348;296;348	.	ENSP00000295067:E296X	E	-	1	0	MYT1L	1905506	1.000000	0.71417	0.848000	0.33437	0.175000	0.22909	3.180000	0.50895	2.719000	0.93026	0.655000	0.94253	GAG		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	39	1	0	1	1	1	6	39				
HDAC5	10014	broad.mit.edu	37	17	42168661	42168661	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr17:42168661C>T	ENST00000393622.2	-	11	1695	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	HDAC5_ENST00000586802.1_Missense_Mutation_p.R455Q|HDAC5_ENST00000225983.6_Missense_Mutation_p.R456Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.R455Q	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	455					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCTCTGCTGCCGGGCCTGCTC	0.637																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(1366-1368)cGg>cAg		histone deacetylase 5							23.0	21.0	21.0					17																	42168661		2201	4298	6499	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42168661C>T	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1364G>A	17.37:g.42168661C>T	ENSP00000377244:p.Arg455Gln					HDAC5_ENST00000586802.1_Missense_Mutation_p.R455Q|HDAC5_ENST00000393622.2_Missense_Mutation_p.R455Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.R455Q	p.R456Q			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	11	1690	-		Breast(137;0.00637)|Prostate(33;0.0313)	455					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.1367G>A	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494585	0.85069	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.48522	0.84;0.84;0.81	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000003	T	0.66046	0.2750	M	0.76574	2.34	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.997;0.998;0.997	D;D;D;D	0.75484	0.986;0.968;0.979;0.953	T	0.62263	-0.6891	10	0.10111	T	0.7	-27.201	17.4703	0.87645	0.0:1.0:0.0:0.0	.	455;455;456;455	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	Q	456;455;455	ENSP00000225983:R456Q;ENSP00000377244:R455Q;ENSP00000337290:R455Q	ENSP00000225983:R456Q	R	-	2	0	HDAC5	39524187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.021000	0.41020	2.422000	0.82143	0.561000	0.74099	CGG		0.637	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	11	0	0	0	1	0	3	11				
CTNND1	1500	broad.mit.edu	37	11	57569254	57569254	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:57569254T>C	ENST00000399050.4	+	7	1542	c.1006T>C	c.(1006-1008)Tgg>Cgg	p.W336R	CTNND1_ENST00000530094.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532649.1_Missense_Mutation_p.W282R|CTNND1_ENST00000415361.2_Missense_Mutation_p.W235R|CTNND1_ENST00000358694.6_Missense_Mutation_p.W336R|CTNND1_ENST00000529986.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532245.1_Missense_Mutation_p.W235R|CTNND1_ENST00000526938.1_Missense_Mutation_p.W336R|CTNND1_ENST00000532463.1_Missense_Mutation_p.W235R|CTNND1_ENST00000529873.1_Missense_Mutation_p.W282R|CTNND1_ENST00000526772.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361332.4_Missense_Mutation_p.W336R|CTNND1_ENST00000533667.1_Missense_Mutation_p.W13R|CTNND1_ENST00000529919.1_Missense_Mutation_p.W336R|CTNND1_ENST00000361796.4_Missense_Mutation_p.W336R|CTNND1_ENST00000525902.1_Missense_Mutation_p.W13R|CTNND1_ENST00000531014.1_Missense_Mutation_p.W13R|CTNND1_ENST00000530748.1_Missense_Mutation_p.W282R|CTNND1_ENST00000534579.1_Missense_Mutation_p.W282R|CTNND1_ENST00000526357.1_Missense_Mutation_p.W282R|CTNND1_ENST00000524630.1_Missense_Mutation_p.W336R|CTNND1_ENST00000426142.2_Missense_Mutation_p.W235R|CTNND1_ENST00000399039.4_Missense_Mutation_p.W336R|CTNND1_ENST00000527467.1_Missense_Mutation_p.W13R|CTNND1_ENST00000532787.1_Missense_Mutation_p.W235R|CTNND1_ENST00000528232.1_Missense_Mutation_p.W235R|CTNND1_ENST00000361391.6_Missense_Mutation_p.W336R|CTNND1_ENST00000532844.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529526.1_Missense_Mutation_p.W282R|CTNND1_ENST00000528621.1_Missense_Mutation_p.W282R|CTNND1_ENST00000428599.2_Missense_Mutation_p.W336R|CTNND1_ENST00000360682.6_Missense_Mutation_p.W336R	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	336					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCAATACTACTGGGCTCCTTT	0.507																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1006-1008)Tgg>Cgg		catenin (cadherin-associated protein), delta 1							77.0	74.0	75.0					11																	57569254		1934	4145	6079	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569254T>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1006T>C	11.37:g.57569254T>C	ENSP00000382004:p.Trp336Arg					CTNND1_ENST00000526938.1_Missense_Mutation_p.W336R|CTNND1_ENST00000529919.1_Missense_Mutation_p.W336R|CTNND1_ENST00000399050.4_Missense_Mutation_p.W336R|CTNND1_ENST00000358694.6_Missense_Mutation_p.W336R|CTNND1_ENST00000534579.1_Missense_Mutation_p.W282R|CTNND1_ENST00000527467.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361332.4_Missense_Mutation_p.W336R|CTNND1_ENST00000533667.1_Missense_Mutation_p.W13R|CTNND1_ENST00000528621.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532844.1_Missense_Mutation_p.W282R|CTNND1_ENST00000426142.2_Missense_Mutation_p.W235R|CTNND1_ENST00000530094.1_Missense_Mutation_p.W235R|CTNND1_ENST00000528232.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532787.1_Missense_Mutation_p.W235R|CTNND1_ENST00000428599.2_Missense_Mutation_p.W336R|CTNND1_ENST00000360682.6_Missense_Mutation_p.W336R|CTNND1_ENST00000532463.1_Missense_Mutation_p.W235R|CTNND1_ENST00000526357.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529526.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532649.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532245.1_Missense_Mutation_p.W235R|CTNND1_ENST00000530748.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529873.1_Missense_Mutation_p.W282R|CTNND1_ENST00000399039.4_Missense_Mutation_p.W336R|CTNND1_ENST00000361796.4_Missense_Mutation_p.W336R|CTNND1_ENST00000415361.2_Missense_Mutation_p.W235R|CTNND1_ENST00000526772.1_Missense_Mutation_p.W13R|CTNND1_ENST00000531014.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361391.6_Missense_Mutation_p.W336R|CTNND1_ENST00000529986.1_Missense_Mutation_p.W235R|CTNND1_ENST00000525902.1_Missense_Mutation_p.W13R	p.W336R			O60716	CTND1_HUMAN			7	1519	+		all_epithelial(135;0.155)	336					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1006T>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745665	0.69418	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76316	-0.19;-0.18;-0.18;-1.01;-0.56;-0.19;-0.19;-0.1;-0.19;-0.56;-0.2;-0.1;-0.1;-0.19;-0.44;-0.9;-0.19;-0.19;-0.19;-0.19;-0.44;-0.09;-0.45;-0.43;-0.56;-0.42;-0.2;-0.2;-0.18;-0.18;-0.1;-0.19;-0.55;1.92	4.74	4.74	0.60224	Armadillo-like helical (1);	0.185627	0.50627	D	0.000119	T	0.81678	0.4873	L	0.36672	1.1	0.47407	D	0.999412	D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.93;1.0;0.999	D;D;D;D;D;D;P;D;D	0.91635	0.999;0.999;0.996;0.998;0.998;0.998;0.615;0.999;0.997	T	0.81556	-0.0879	10	0.44086	T	0.13	-6.5882	12.6239	0.56618	0.0:0.0:0.0:1.0	.	336;336;336;235;282;282;336;336;336	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	R	336;336;336;13;336;336;282;235;336;336;336;235;235;336;235;13;282;282;282;336;13;235;13;13;282;13;282;282;235;235;235;282;336;258	ENSP00000436543:W336R;ENSP00000434808:W336R;ENSP00000381996:W336R;ENSP00000435242:W13R;ENSP00000353902:W336R;ENSP00000354907:W336R;ENSP00000436323:W282R;ENSP00000409930:W235R;ENSP00000382004:W336R;ENSP00000354785:W336R;ENSP00000354823:W336R;ENSP00000432075:W235R;ENSP00000437156:W235R;ENSP00000351527:W336R;ENSP00000434949:W235R;ENSP00000437051:W13R;ENSP00000435379:W282R;ENSP00000432243:W282R;ENSP00000436744:W282R;ENSP00000413586:W336R;ENSP00000434900:W13R;ENSP00000435266:W235R;ENSP00000432623:W13R;ENSP00000433158:W13R;ENSP00000435494:W282R;ENSP00000434672:W13R;ENSP00000433276:W282R;ENSP00000433334:W282R;ENSP00000437327:W235R;ENSP00000403518:W235R;ENSP00000434017:W235R;ENSP00000435789:W282R;ENSP00000432041:W336R;ENSP00000434202:W258R	ENSP00000351527:W336R	W	+	1	0	CTNND1	57325830	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	3.767000	0.55288	1.976000	0.57569	0.455000	0.32223	TGG		0.507	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		8	39	0	0	0	1	0	8	39				
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																						ENST00000494540.1																			0																																																			0							g.chr10:38645343C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T								NR_003086.1						0	36	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	9	0	0	0	1	0	3	9				
PCDHGB2	56103	broad.mit.edu	37	5	140741242	140741242	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr5:140741242G>C	ENST00000522605.1	+	1	1540	c.1540G>C	c.(1540-1542)Gtg>Ctg	p.V514L	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGGGGTGGTGTTCGCGCA	0.662																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1540-1542)Gtg>Ctg									34.0	37.0	36.0					5																	140741242		2010	4173	6183	SO:0001583	missense	0							g.chr5:140741242G>C	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1540G>C	5.37:g.140741242G>C	ENSP00000429018:p.Val514Leu					PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.V514L	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1540	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1540G>C	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.105	-1.146339	0.01714	.	.	ENSG00000253910	ENST00000522605	T	0.60171	0.21	5.18	0.545	0.17190	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.41789	0.1174	N	0.25245	0.725	0.21675	N	0.999599	B;P	0.46220	0.327;0.874	B;P	0.46975	0.248;0.533	T	0.26849	-1.0091	9	0.06891	T	0.86	.	8.787	0.34827	0.1311:0.5282:0.3407:0.0	.	514;514	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	L	514	ENSP00000429018:V514L	ENSP00000429018:V514L	V	+	1	0	PCDHGB2	140721426	0.000000	0.05858	0.998000	0.56505	0.358000	0.29455	-0.964000	0.03833	0.242000	0.21303	0.467000	0.42956	GTG		0.662	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		17	64	0	0	0	1	0	17	64				
IPO8	10526	broad.mit.edu	37	12	30790010	30790010	+	Silent	SNP	G	G	A	rs373155571		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:30790010G>A	ENST00000256079.4	-	22	2939	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	IPO8_ENST00000544829.1_Silent_p.F662F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	867					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAAGGAAAAGGAAAAGAATTG	0.428																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2599-2601)ttC>ttT		importin 8							139.0	124.0	129.0					12																	30790010		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30790010G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2601C>T	12.37:g.30790010G>A						IPO8_ENST00000544829.1_Silent_p.F662F	p.F867F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			22	2939	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		867					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.2601C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346803	0.24426	.	.	ENSG00000133704	ENST00000535598	.	.	.	5.36	4.47	0.54385	.	.	.	.	.	T	0.62024	0.2394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60332	-0.7284	4	.	.	.	-14.6621	10.5133	0.44874	0.1495:0.0:0.8505:0.0	.	.	.	.	F	25	.	.	S	-	2	0	IPO8	30681277	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.067000	0.30616	1.392000	0.46585	0.650000	0.86243	TCC		0.428	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		16	76	0	0	0	1	0	16	76				
CCDC171	203238	broad.mit.edu	37	9	15971695	15971695	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr9:15971695T>C	ENST00000380701.3	+	26	4170	c.3842T>C	c.(3841-3843)tTg>tCg	p.L1281S	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1281																	TTCTTACCATTGAAAGCTGAA	0.418																																						ENST00000380701.3																			0											c.(3841-3843)tTg>tCg		coiled-coil domain containing 171							195.0	183.0	187.0					9																	15971695		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15971695T>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3842T>C	9.37:g.15971695T>C	ENSP00000370077:p.Leu1281Ser					CCDC171_ENST00000486641.2_Intron	p.L1281S	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			26	4170	+			1281					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3842T>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807982	0.31961	.	.	ENSG00000164989	ENST00000380701	T	0.29655	1.56	4.95	4.95	0.65309	.	0.000000	0.42682	D	0.000661	T	0.41166	0.1147	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.40459	-0.9562	10	0.87932	D	0	-4.5421	13.3467	0.60578	0.0:0.0:0.0:1.0	.	1289;1281	B7ZM22;Q6TFL3	.;CI093_HUMAN	S	1281	ENSP00000370077:L1281S	ENSP00000370077:L1281S	L	+	2	0	C9orf93	15961695	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.943000	0.63554	2.075000	0.62263	0.533000	0.62120	TTG		0.418	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		13	94	0	0	0	1	0	13	94				
SYNPO	11346	broad.mit.edu	37	5	150028001	150028001	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr5:150028001C>T	ENST00000394243.1	+	3	1270	c.896C>T	c.(895-897)cCg>cTg	p.P299L	SYNPO_ENST00000522122.1_Missense_Mutation_p.P299L|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000519664.1_Missense_Mutation_p.P55L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P55L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	299					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCCTCACCGGCCCCACCT	0.582																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(895-897)cCg>cTg		synaptopodin							103.0	99.0	101.0					5																	150028001		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028001C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.896C>T	5.37:g.150028001C>T	ENSP00000377789:p.Pro299Leu					SYNPO_ENST00000519664.1_Missense_Mutation_p.P55L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P55L|SYNPO_ENST00000522122.1_Missense_Mutation_p.P299L|SYNPO_ENST00000518872.1_Intron	p.P299L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1270	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	299					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.896C>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178454	0.09443	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.41400	1.0;1.0;1.11	4.62	2.64	0.31445	.	0.241873	0.29431	N	0.012172	T	0.26122	0.0637	L	0.32530	0.975	0.09310	N	0.999999	P;P	0.46327	0.876;0.655	B;B	0.34301	0.174;0.179	T	0.23190	-1.0195	10	0.87932	D	0	-10.5445	9.7797	0.40640	0.4702:0.5298:0.0:0.0	.	55;299	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	299;299;55;55	ENSP00000377789:P299L;ENSP00000428378:P299L;ENSP00000429268:P55L	ENSP00000302139:P55L	P	+	2	0	SYNPO	150008194	0.004000	0.15560	0.008000	0.14137	0.171000	0.22731	2.055000	0.41345	1.244000	0.43870	0.561000	0.74099	CCG		0.582	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		9	84	0	0	0	1	0	9	84				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	148	0	0	0	1	0	4	148				
MBOAT1	154141	broad.mit.edu	37	6	20113231	20113231	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr6:20113231T>C	ENST00000324607.7	-	11	1249	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	MBOAT1_ENST00000541730.1_Missense_Mutation_p.Y213C	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	362					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AACCCGCTGATAGCACACACT	0.458																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(637-639)tAt>tGt		membrane bound O-acyltransferase domain containing 1							103.0	79.0	87.0					6																	20113231		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20113231T>C	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1085A>G	6.37:g.20113231T>C	ENSP00000324944:p.Tyr362Cys					MBOAT1_ENST00000324607.7_Missense_Mutation_p.Y362C	p.Y213C			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		10	1233	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		362					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.638A>G	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547666	0.65311	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	D;D	0.88509	-2.39;-2.39	5.83	5.83	0.93111	.	0.054069	0.85682	D	0.000000	D	0.96043	0.8711	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97354	0.9965	10	0.87932	D	0	-6.6645	15.8742	0.79148	0.0:0.0:0.0:1.0	.	213;362	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	C	213;362	ENSP00000441568:Y213C;ENSP00000324944:Y362C	ENSP00000324944:Y362C	Y	-	2	0	MBOAT1	20221210	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.759000	0.85235	2.236000	0.73375	0.533000	0.62120	TAT		0.458	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			4	16	0	0	0	1	0	4	16				
SPEG	10290	broad.mit.edu	37	2	220354264	220354264	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:220354264C>G	ENST00000312358.7	+	36	8656	c.8524C>G	c.(8524-8526)Ccc>Gcc	p.P2842A	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2842	Pro-rich.				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)		GGGTCCACCACCCCAAACCCC	0.667																																						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.(8524-8526)Ccc>Gcc		SPEG complex locus							50.0	56.0	54.0					2																	220354264		1956	4127	6083	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354264C>G	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.8524C>G	2.37:g.220354264C>G	ENSP00000311684:p.Pro2842Ala					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.P2842A	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)	36	8656	+		Renal(207;0.0183)	2842			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8524C>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332712	0.24167	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66815	-0.23	4.94	4.94	0.65067	.	0.000000	0.37053	U	0.002270	T	0.48909	0.1526	N	0.22421	0.69	0.80722	D	1	P	0.34724	0.465	B	0.33690	0.168	T	0.45160	-0.9280	10	0.17369	T	0.5	.	11.3114	0.49366	0.0:0.9106:0.0:0.0894	.	2842	Q15772	SPEG_HUMAN	A	2842	ENSP00000311684:P2842A	ENSP00000265327:P2842A	P	+	1	0	SPEG	220062508	0.086000	0.21541	0.985000	0.45067	0.551000	0.35334	2.524000	0.45589	2.299000	0.77371	0.456000	0.33151	CCC		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	86	0	0	0	1	0	9	86				
BSN	8927	broad.mit.edu	37	3	49688109	49688109	+	Missense_Mutation	SNP	C	C	T	rs199867922		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr3:49688109C>T	ENST00000296452.4	+	4	1697	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	528					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTAGGAGAGCCGACCCCCCTG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		13125	0.001		0.0	False		,,,				2504	0.0					ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(1582-1584)cCg>cTg		bassoon presynaptic cytomatrix protein							55.0	68.0	63.0					3																	49688109		2198	4293	6491	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688109C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1583C>T	3.37:g.49688109C>T	ENSP00000296452:p.Pro528Leu						p.P528L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	1697	+			528					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1583C>T	CCDS2800.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.77	1.737874	0.30774	.	.	ENSG00000164061	ENST00000296452	T	0.18657	2.2	4.87	3.01	0.34805	.	0.115786	0.64402	D	0.000015	T	0.20495	0.0493	L	0.56769	1.78	0.46241	D	0.998943	B	0.16802	0.019	B	0.11329	0.006	T	0.03335	-1.1047	10	0.45353	T	0.12	.	9.3964	0.38406	0.1427:0.7804:0.0:0.0769	.	528	Q9UPA5	BSN_HUMAN	L	528	ENSP00000296452:P528L	ENSP00000296452:P528L	P	+	2	0	BSN	49663113	0.001000	0.12720	0.863000	0.33907	0.775000	0.43874	1.387000	0.34430	0.434000	0.26340	0.655000	0.94253	CCG		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	117	0	0	0	1	0	4	117				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	39	0	0	0	1	0	3	39				
CSMD1	64478	broad.mit.edu	37	8	2806865	2806865	+	Missense_Mutation	SNP	T	T	A	rs368405203		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr8:2806865T>A	ENST00000520002.1	-	69	10916	c.10361A>T	c.(10360-10362)gAc>gTc	p.D3454V	CSMD1_ENST00000537824.1_Missense_Mutation_p.D3453V|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3277V|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3276V|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3277V|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3454V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3454						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCATGAATGTCACCTTGAAA	0.333																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10360-10362)gAc>gTc		CUB and Sushi multiple domains 1							99.0	91.0	94.0					8																	2806865		1809	4069	5878	SO:0001583	missense	64478					integral to membrane		g.chr8:2806865T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10361A>T	8.37:g.2806865T>A	ENSP00000430733:p.Asp3454Val					CSMD1_ENST00000542608.1_Missense_Mutation_p.D3276V|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3453V|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3277V|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3277V|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3454V	p.D3454V			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	69	10916	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3454					Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10361A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.802|9.802	1.180717|1.180717	0.21787|0.21787	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.25414|.	1.8;1.94;1.96;1.8|.	5.6|5.6	4.42|4.42	0.53409|0.53409	.|.	0.134514|.	0.49305|.	D|.	0.000144|.	T|.	0.34483|.	0.0899|.	N|N	0.22421|0.22421	0.69|0.69	0.20821|0.20821	N|N	0.999845|0.999845	B;B;P|.	0.48503|.	0.112;0.001;0.911|.	B;B;P|.	0.47430|.	0.039;0.002;0.547|.	T|.	0.19160|.	-1.0314|.	10|.	0.46703|.	T|.	0.11|.	.|.	13.179|13.179	0.59642|0.59642	0.0:0.0:0.133:0.867|0.0:0.0:0.133:0.867	.|.	3454;3454;3276|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	V|C	3277;3454;3315;3453;3276|2855	ENSP00000383047:D3277V;ENSP00000430733:D3454V;ENSP00000441462:D3453V;ENSP00000446243:D3276V|.	ENSP00000320445:D3315V|.	D|X	-|-	2|3	0|0	CSMD1|CSMD1	2794272|2794272	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.153000|0.153000	0.21895|0.21895	0.920000|0.920000	0.28705|0.28705	1.013000|1.013000	0.39391|0.39391	0.519000|0.519000	0.50382|0.50382	GAC|TGA		0.333	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	24	0	0	0	1	0	5	24				
CATSPER1	117144	broad.mit.edu	37	11	65792834	65792834	+	Silent	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:65792834G>A	ENST00000312106.5	-	1	1154	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	339					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGCAGGGCCGGGGGCATCGT	0.597																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1015-1017)ccC>ccT		cation channel, sperm associated 1							120.0	98.0	105.0					11																	65792834		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792834G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1017C>T	11.37:g.65792834G>A							p.P339P	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	1154	-			339					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1017C>T	CCDS8127.1																																																																																				0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		9	32	0	0	0	1	0	9	32				
CLCNKA	1187	broad.mit.edu	37	1	16351304	16351304	+	Silent	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr1:16351304G>A	ENST00000331433.4	+	4	295	c.276G>A	c.(274-276)cgG>cgA	p.R92R	CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000420078.1_Silent_p.R92R|CLCNKA_ENST00000375692.1_Silent_p.R92R|CLCNKA_ENST00000439316.2_Intron			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	92					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCTGCTCCGGTATCTTTCCT	0.632																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(274-276)cgG>cgA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						136.0	102.0	114.0					1																	16351304		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16351304G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.276G>A	1.37:g.16351304G>A						CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Silent_p.R92R|CLCNKA_ENST00000331433.4_Silent_p.R92R|CLCNKA_ENST00000464764.1_Intron	p.R92R			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	404	+		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)	92					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.276G>A	CCDS167.1																																																																																				0.632	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			5	40	0	0	0	1	0	5	40				
NXPE4	54827	broad.mit.edu	37	11	114450890	114450890	+	Missense_Mutation	SNP	G	G	A	rs201579260		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:114450890G>A	ENST00000375478.3	-	5	1243	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	NXPE4_ENST00000424261.2_Missense_Mutation_p.R71C	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	355						extracellular vesicular exosome (GO:0070062)		p.R355C(1)									ATCCACTGGCGGATCGTGGAA	0.423																																						ENST00000375478.3																			1	Substitution - Missense(1)	p.R355C(1)	large_intestine(1)								c.(1063-1065)Cgc>Tgc		neurexophilin and PC-esterase domain family, member 4							198.0	189.0	191.0					11																	114450890		1862	4113	5975	SO:0001583	missense	54827							g.chr11:114450890G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1063C>T	11.37:g.114450890G>A	ENSP00000364627:p.Arg355Cys					NXPE4_ENST00000424261.2_Missense_Mutation_p.R71C	p.R355C	NM_001077639.1	NP_001071107.1					5	1243	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1063C>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083386	0.55861	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.57107	0.42;1.66	5.11	3.21	0.36854	.	0.205226	0.34002	N	0.004343	T	0.75110	0.3805	M	0.92507	3.315	0.49130	D	0.999755	D	0.89917	1.0	D	0.76575	0.988	T	0.76642	-0.2884	10	0.62326	D	0.03	.	9.0842	0.36570	0.083:0.148:0.7689:0.0	.	355	Q6UWF7	FA55D_HUMAN	C	71;355	ENSP00000401503:R71C;ENSP00000364627:R355C	ENSP00000364627:R355C	R	-	1	0	FAM55D	113956100	0.676000	0.27567	0.834000	0.33040	0.626000	0.37791	0.858000	0.27845	0.642000	0.30620	-0.176000	0.13171	CGC		0.423	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		11	123	0	0	0	1	0	11	123				
AGTR1	185	broad.mit.edu	37	3	148459293	148459293	+	Silent	SNP	C	C	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr3:148459293C>A	ENST00000497524.1	+	2	862	c.471C>A	c.(469-471)ggC>ggA	p.G157G	AGTR1_ENST00000474935.1_Silent_p.G157G|AGTR1_ENST00000475347.1_Silent_p.G157G|AGTR1_ENST00000461609.1_Silent_p.G157G|AGTR1_ENST00000542281.1_Silent_p.G157G|AGTR1_ENST00000418473.2_Silent_p.G157G|AGTR1_ENST00000404754.2_Silent_p.G157G|AGTR1_ENST00000349243.3_Silent_p.G157G|AGTR1_ENST00000402260.1_Silent_p.G157G	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	157					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGCTGGCAGGCTTGGCCAGTT	0.443																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(469-471)ggC>ggA		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						102.0	98.0	99.0					3																	148459293		2203	4300	6503	SO:0001819	synonymous_variant	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459293C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.471C>A	3.37:g.148459293C>A						AGTR1_ENST00000402260.1_Silent_p.G157G|AGTR1_ENST00000418473.2_Silent_p.G157G|AGTR1_ENST00000474935.1_Silent_p.G157G|AGTR1_ENST00000475347.1_Silent_p.G157G|AGTR1_ENST00000404754.2_Silent_p.G157G|AGTR1_ENST00000497524.1_Silent_p.G157G|AGTR1_ENST00000461609.1_Silent_p.G157G|AGTR1_ENST00000349243.3_Silent_p.G157G	p.G157G	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	917	+			157					Q13725|Q8TBK4	Silent	SNP	ENST00000497524.1	37	c.471C>A	CCDS3137.1																																																																																				0.443	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			6	139	1	0	0.00116845	1	0.00121018	6	139				
SPATA5	166378	broad.mit.edu	37	4	123848894	123848894	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr4:123848894G>T	ENST00000274008.4	+	2	338	c.269G>T	c.(268-270)aGt>aTt	p.S90I	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	90					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTGCTTACTAGTTTGAACGGA	0.343																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(268-270)aGt>aTt		spermatogenesis associated 5							135.0	130.0	132.0					4																	123848894		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848894G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.269G>T	4.37:g.123848894G>T	ENSP00000274008:p.Ser90Ile					SPATA5_ENST00000422835.2_3'UTR	p.S90I	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			2	338	+			90					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.269G>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038826	0.55003	.	.	ENSG00000145375	ENST00000274008	D	0.83075	-1.68	4.38	3.54	0.40534	Aspartate decarboxylase-like fold (1);	0.181223	0.47852	D	0.000202	D	0.86121	0.5857	L	0.55481	1.735	0.38729	D	0.953633	D;D	0.76494	0.995;0.999	P;D	0.65987	0.873;0.94	D	0.86851	0.2023	10	0.87932	D	0	-26.4409	8.0635	0.30646	0.0908:0.1733:0.736:0.0	.	90;90	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	I	90	ENSP00000274008:S90I	ENSP00000274008:S90I	S	+	2	0	SPATA5	124068344	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.649000	0.67936	1.213000	0.43380	0.655000	0.94253	AGT		0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		29	58	1	0	1.13719e-10	1	1.19922e-10	29	58				
BBS9	27241	broad.mit.edu	37	7	33573738	33573738	+	Missense_Mutation	SNP	G	G	A	rs376641244		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:33573738G>A	ENST00000242067.6	+	21	2992	c.2471G>A	c.(2470-2472)cGt>cAt	p.R824H	BBS9_ENST00000354265.4_Missense_Mutation_p.R789H|BBS9_ENST00000396127.2_Missense_Mutation_p.R789H|BBS9_ENST00000355070.2_Missense_Mutation_p.R819H|BBS9_ENST00000350941.3_Missense_Mutation_p.R784H	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	824					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAAGGTGGCCGTCTCTGCCTA	0.483									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2470-2472)cGt>cAt		Bardet-Biedl syndrome 9							114.0	84.0	94.0					7																	33573738		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573738G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2471G>A	7.37:g.33573738G>A	ENSP00000242067:p.Arg824His					BBS9_ENST00000396127.2_Missense_Mutation_p.R789H|BBS9_ENST00000350941.3_Missense_Mutation_p.R784H|BBS9_ENST00000354265.4_Missense_Mutation_p.R789H|BBS9_ENST00000355070.2_Missense_Mutation_p.R819H	p.R824H	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	2992	+			824					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2471G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960418	0.53400	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.61627	0.12;0.09;0.09;0.14;0.09	5.93	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.50034	0.1592	L	0.59436	1.845	0.80722	D	1	B;B;B;B;P	0.35433	0.32;0.32;0.32;0.32;0.501	B;B;B;B;B	0.29942	0.081;0.081;0.081;0.081;0.109	T	0.51012	-0.8759	10	0.56958	D	0.05	-13.8109	10.7327	0.46107	0.2023:0.0:0.7977:0.0	.	824;784;819;789;824	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	H	824;784;789;819;789;824	ENSP00000242067:R824H;ENSP00000313122:R784H;ENSP00000379433:R789H;ENSP00000347182:R819H;ENSP00000346214:R789H	ENSP00000242067:R824H	R	+	2	0	BBS9	33540263	1.000000	0.71417	0.742000	0.31022	0.942000	0.58702	6.209000	0.72171	0.870000	0.35726	0.655000	0.94253	CGT		0.483	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			5	32	0	0	0	1	0	5	32				
PLCL2	23228	broad.mit.edu	37	3	17051578	17051578	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr3:17051578G>A	ENST00000418129.2	+	2	827	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.R121Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R121Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	247					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACAGGACTGCGGTACCTAATT	0.388																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(361-363)cGg>cAg		phospholipase C-like 2							104.0	106.0	105.0					3																	17051578		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051578G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.362G>A	3.37:g.17051578G>A	ENSP00000409637:p.Arg121Gln					PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.R121Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R121Q	p.R121Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	827	+			247					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.362G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468960	0.84533	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.64260	-0.09;-0.09;-0.09	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	.	.	.	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.987	T	0.80448	-0.1378	9	0.46703	T	0.11	.	19.0202	0.92910	0.0:0.0:1.0:0.0	.	247;121	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	Q	121;248;121;121	ENSP00000409637:R121Q;ENSP00000379979:R121Q;ENSP00000412836:R121Q	ENSP00000285094:R248Q	R	+	2	0	PLCL2	17026582	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.507000	0.84556	0.561000	0.74099	CGG		0.388	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			6	94	0	0	0	1	0	6	94				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			7	6						7	6	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300803	74300804	+	RNA	INS	-	-	A			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:74300803_74300804insA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTTCATACTTAAAAAAAAAAA	0.455																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74300803_74300804insA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300814_74300814dupA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	INS	ENST00000423186.1	37																																																																																						0.455	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		4	4						4	4	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	5						3	5	---	---	---	---
