#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
CD3D	915	broad.mit.edu	37	11	118209902	118209902	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr11:118209902C>T	ENST00000300692.4	-	5	627	c.491G>A	c.(490-492)gGa>gAa	p.G164E	CD3D_ENST00000392884.2_Missense_Mutation_p.G120E|CD3D_ENST00000529594.1_Missense_Mutation_p.G91E	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	164	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CCAGTTTCCTCCAAGGTGGCT	0.507																																						ENST00000300692.4																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9						c.(490-492)gGa>gAa		CD3d molecule, delta (CD3-TCR complex)							119.0	108.0	112.0					11																	118209902		2200	4296	6496	SO:0001583	missense	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118209902C>T	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.491G>A	11.37:g.118209902C>T	ENSP00000300692:p.Gly164Glu					CD3D_ENST00000529594.1_Missense_Mutation_p.G91E|CD3D_ENST00000392884.2_Missense_Mutation_p.G120E	p.G164E	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	627	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164			ITAM.		A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.491G>A	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065153|4.065153	0.76187|0.76187	.|.	.|.	ENSG00000167286|ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884|ENST00000534687	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.503086|.	0.22883|.	N|.	0.054497|.	T|.	0.74291|.	0.3697|.	M|M	0.75447|0.75447	2.3|2.3	0.43203|0.43203	D|D	0.995059|0.995059	D;D|.	0.56746|.	0.977;0.977|.	P;P|.	0.57846|.	0.828;0.666|.	T|.	0.73691|.	-0.3903|.	10|.	0.30854|.	T|.	0.27|.	-15.6718|-15.6718	14.5479|14.5479	0.68044|0.68044	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120;164|.	A8MVP6;P04234|.	.;CD3D_HUMAN|.	E|X	164;91;120|124	ENSP00000300692:G164E;ENSP00000437335:G91E;ENSP00000376622:G120E|.	ENSP00000300692:G164E|.	G|W	-|-	2|3	0|0	CD3D|CD3D	117715112|117715112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.326000|2.326000	0.43849|0.43849	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.507	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		27	37	0	0	0	1	0	27	37				
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517																																						ENST00000524391.1																			1	Substitution - Missense(1)	p.V214I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(640-642)Gtc>Atc		potassium channel, subfamily V, member 1							92.0	84.0	87.0					8																	110984838		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984838C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.640G>A	8.37:g.110984838C>T	ENSP00000435954:p.Val214Ile					KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I	p.V214I			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1672	-	all_neural(195;0.219)		214					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.640G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078020	0.01903	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.35	0.52113	.	0.306903	0.28109	N	0.016564	D	0.88566	0.6471	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75539	-0.3282	10	0.02654	T	1	.	3.8825	0.09083	0.0:0.6825:0.0:0.3175	.	214	Q6PIU1	KCNV1_HUMAN	I	214;214;90	ENSP00000435954:V214I;ENSP00000297404:V214I	ENSP00000297404:V214I	V	-	1	0	KCNV1	111054014	0.994000	0.37717	0.994000	0.49952	0.610000	0.37248	2.694000	0.47035	2.499000	0.84300	0.557000	0.71058	GTC		0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		31	24	0	0	0	1	0	31	24				
ZNF700	90592	broad.mit.edu	37	19	12060277	12060277	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:12060277G>C	ENST00000254321.5	+	4	1581	c.1438G>C	c.(1438-1440)Ggg>Cgg	p.G480R	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.G462R|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGTGGGAAAGCCTT	0.408																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1384-1386)Ggg>Cgg		zinc finger protein 700							74.0	75.0	75.0					19																	12060277		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060277G>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1438G>C	19.37:g.12060277G>C	ENSP00000254321:p.Gly480Arg					ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G480R|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	p.G462R			Q9H0M5	ZN700_HUMAN			3	1802	+			480					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1384G>C	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	14.11	2.436963	0.43224	.	.	ENSG00000196757	ENST00000254321	T	0.58506	0.33	0.606	-0.907	0.10521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67804	0.2932	M	0.67700	2.07	0.24123	N	0.995797	D	0.76494	0.999	D	0.73708	0.981	T	0.57046	-0.7878	9	0.72032	D	0.01	.	6.354	0.21390	0.2118:0.0:0.7882:0.0	.	480	Q9H0M5	ZN700_HUMAN	R	480	ENSP00000254321:G480R	ENSP00000254321:G480R	G	+	1	0	ZNF700	11921277	0.988000	0.35896	0.006000	0.13384	0.378000	0.30076	2.707000	0.47143	-0.340000	0.08388	0.195000	0.17529	GGG		0.408	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		31	49	0	0	0	1	0	31	49				
SPARC	6678	broad.mit.edu	37	5	151045995	151045995	+	Missense_Mutation	SNP	C	C	T	rs373654699		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr5:151045995C>T	ENST00000231061.4	-	8	974	c.661G>A	c.(661-663)Gag>Aag	p.E221K	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	221					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.E221K(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TAGTTCTTCTCGAAGTCCCGG	0.557																																						ENST00000231061.4																			1	Substitution - Missense(1)	p.E221K(1)	large_intestine(1)	central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(661-663)Gag>Aag		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						77.0	71.0	73.0					5																	151045995		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151045995C>T		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.661G>A	5.37:g.151045995C>T	ENSP00000231061:p.Glu221Lys					SPARC_ENST00000537849.1_5'UTR	p.E221K	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	8	974	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	221					D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.661G>A	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423847	0.43020	.	.	ENSG00000113140	ENST00000231061;ENST00000538026	T	0.25085	1.82	5.64	3.82	0.43975	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.144593	0.64402	D	0.000008	T	0.22437	0.0541	L	0.45137	1.4	0.53688	D	0.999973	B	0.15719	0.014	B	0.06405	0.002	T	0.03641	-1.1017	10	0.14656	T	0.56	-22.7082	16.1145	0.81295	0.0:0.7493:0.2507:0.0	.	221	P09486	SPRC_HUMAN	K	221;130	ENSP00000231061:E221K	ENSP00000231061:E221K	E	-	1	0	SPARC	151026188	0.997000	0.39634	0.942000	0.38095	0.990000	0.78478	3.549000	0.53681	0.701000	0.31803	0.655000	0.94253	GAG		0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		5	49	0	0	0	1	0	5	49				
MSI2	124540	broad.mit.edu	37	17	55752422	55752422	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:55752422G>A	ENST00000284073.2	+	12	1089	c.880G>A	c.(880-882)Gga>Aga	p.G294R	MSI2_ENST00000416426.2_Missense_Mutation_p.G290R|MSI2_ENST00000442934.2_Missense_Mutation_p.G233R	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	294						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CCAGGACTCCGGAGTGGGGAA	0.692			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(880-882)Gga>Aga		musashi RNA-binding protein 2							54.0	62.0	59.0					17																	55752422		2203	4299	6502	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752422G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.880G>A	17.37:g.55752422G>A	ENSP00000284073:p.Gly294Arg					MSI2_ENST00000442934.2_Missense_Mutation_p.G233R|MSI2_ENST00000416426.2_Missense_Mutation_p.G290R	p.G294R	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1089	+	Breast(9;1.78e-08)		294					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.880G>A	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056916	0.76074	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;D;D	0.86694	-2.16;-2.16;-2.16	4.53	4.53	0.55603	.	0.054326	0.64402	D	0.000001	D	0.86464	0.5939	L	0.50333	1.59	0.80722	D	1	D;P	0.62365	0.991;0.878	P;B	0.47102	0.537;0.413	D	0.86136	0.1578	10	0.34782	T	0.22	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	290;294	B4DHE8;Q96DH6	.;MSI2H_HUMAN	R	290;294;233	ENSP00000414671:G290R;ENSP00000284073:G294R;ENSP00000392607:G233R	ENSP00000284073:G294R	G	+	1	0	MSI2	53107421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.456000	0.97628	2.083000	0.62718	0.556000	0.70494	GGA		0.692	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			30	45	0	0	0	1	0	30	45				
RYR2	6262	broad.mit.edu	37	1	237666715	237666715	+	Silent	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:237666715G>A	ENST00000366574.2	+	22	2840	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	RYR2_ENST00000542537.1_Silent_p.K825K|RYR2_ENST00000360064.6_Silent_p.K839K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	841					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGTACAAGCAAGAAAGAA	0.493																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2521-2523)aaG>aaA		ryanodine receptor 2 (cardiac)							120.0	125.0	123.0					1																	237666715		2019	4171	6190	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666715G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2523G>A	1.37:g.237666715G>A						RYR2_ENST00000542537.1_Silent_p.K825K|RYR2_ENST00000360064.6_Silent_p.K839K	p.K841K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2840	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	841					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2523G>A	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	53	0	0	0	1	0	4	53				
SNX33	257364	broad.mit.edu	37	15	75942239	75942239	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr15:75942239C>T	ENST00000308527.5	+	1	1993	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	266	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTCTACCGGCGCTACAAACA	0.552																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(796-798)Cgc>Tgc		sorting nexin 33							148.0	136.0	140.0					15																	75942239		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942239C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.796C>T	15.37:g.75942239C>T	ENSP00000311427:p.Arg266Cys						p.R266C	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1993	+			266			PX.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.796C>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124439	0.37533	.	.	ENSG00000173548	ENST00000308527	T	0.55234	0.53	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.89549	0.3798	10	0.87932	D	0	-7.8478	17.7863	0.88539	0.0:1.0:0.0:0.0	.	266	Q8WV41	SNX33_HUMAN	C	266	ENSP00000311427:R266C	ENSP00000311427:R266C	R	+	1	0	SNX33	73729294	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.817000	0.86213	2.543000	0.85770	0.561000	0.74099	CGC		0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		22	57	0	0	0	1	0	22	57				
EMILIN2	84034	broad.mit.edu	37	18	2892375	2892375	+	Silent	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr18:2892375G>A	ENST00000254528.3	+	4	2409	c.2250G>A	c.(2248-2250)tcG>tcA	p.S750S		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	750					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGCTCAGGTCGCATTCCAGAG	0.483																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2248-2250)tcG>tcA		elastin microfibril interfacer 2							62.0	57.0	59.0					18																	2892375		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892375G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2250G>A	18.37:g.2892375G>A							p.S750S	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2409	+			750					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.2250G>A	CCDS11828.1																																																																																				0.483	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		28	27	0	0	0	1	0	28	27				
HRH4	59340	broad.mit.edu	37	18	22057269	22057269	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr18:22057269G>T	ENST00000256906.4	+	3	1016	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	HRH4_ENST00000426880.2_Missense_Mutation_p.A218S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	306					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A306S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CAAGTCACTGGCCATTCTCTT	0.438																																						ENST00000256906.4																			1	Substitution - Missense(1)	p.A306S(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(916-918)Gcc>Tcc		histamine receptor H4	Clozapine(DB00363)						207.0	206.0	206.0					18																	22057269		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22057269G>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.916G>T	18.37:g.22057269G>T	ENSP00000256906:p.Ala306Ser					HRH4_ENST00000426880.2_Missense_Mutation_p.A218S	p.A306S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			3	1016	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		306					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.916G>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558594	0.86231	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.37915	1.17;1.17	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.124973	0.52532	D	0.000064	T	0.55721	0.1938	M	0.62088	1.915	0.58432	D	0.999993	D;D	0.71674	0.977;0.998	P;D	0.76575	0.78;0.988	T	0.51204	-0.8735	10	0.39692	T	0.17	-12.968	13.6811	0.62487	0.0:0.0:0.8458:0.1542	.	218;306	B2KJ48;Q9H3N8	.;HRH4_HUMAN	S	306;218	ENSP00000256906:A306S;ENSP00000402526:A218S	ENSP00000256906:A306S	A	+	1	0	HRH4	20311267	1.000000	0.71417	0.990000	0.47175	0.831000	0.47069	7.791000	0.85805	2.670000	0.90874	0.650000	0.86243	GCC		0.438	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			63	88	1	0	5.80444e-35	1	6.44937e-35	63	88				
KSR1	8844	broad.mit.edu	37	17	25877722	25877722	+	Silent	SNP	G	G	A	rs56367532	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:25877722G>A	ENST00000319524.6	+	2	360	c.360G>A	c.(358-360)ccG>ccA	p.P120P	KSR1_ENST00000268763.6_5'UTR|KSR1_ENST00000509603.2_Silent_p.P120P|KSR1_ENST00000398988.3_5'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	120					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACGTGAGGCCGGAGGTGGTGC	0.607													G|||	11	0.00219649	0.0	0.0072	5008	,	,		20044	0.0		0.006	False		,,,				2504	0.0				Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(358-360)ccG>ccA		kinase suppressor of ras 1		G		1,1751		0,1,875	58.0	58.0	58.0			-7.9	0.9	17	dbSNP_129	58	25,3957		0,25,1966	no	utr-5	KSR1	NM_014238.1		0,26,2841	AA,AG,GG		0.6278,0.0571,0.4534			25877722	26,5708	876	1991	2867	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25877722G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.360G>A	17.37:g.25877722G>A						KSR1_ENST00000268763.6_5'UTR|KSR1_ENST00000398988.3_5'UTR|KSR1_ENST00000509603.2_Silent_p.P120P	p.P120P			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	2	360	+	Lung NSC(42;0.00836)		118					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.360G>A																																																																																					0.607	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		11	27	0	0	0	1	0	11	27				
AMDHD1	144193	broad.mit.edu	37	12	96359480	96359480	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:96359480G>A	ENST00000266736.2	+	7	1061	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	319					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ACAACCTCGAGCCAGGAAGAT	0.383																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(955-957)Gcc>Acc		amidohydrolase domain containing 1							137.0	122.0	127.0					12																	96359480		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96359480G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.955G>A	12.37:g.96359480G>A	ENSP00000266736:p.Ala319Thr						p.A319T	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			7	1061	+			319					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.955G>A	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466185	0.96257	.	.	ENSG00000139344	ENST00000266736	T	0.71817	-0.6	6.06	6.06	0.98353	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89270	0.3604	10	0.66056	D	0.02	-2.7848	20.6208	0.99490	0.0:0.0:1.0:0.0	.	319	Q96NU7	HUTI_HUMAN	T	319	ENSP00000266736:A319T	ENSP00000266736:A319T	A	+	1	0	AMDHD1	94883611	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	9.074000	0.93998	2.882000	0.98803	0.655000	0.94253	GCC		0.383	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		27	48	0	0	0	1	0	27	48				
HDAC9	9734	broad.mit.edu	37	7	18875186	18875186	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr7:18875186C>T	ENST00000432645.2	+	19	2554	c.2554C>T	c.(2554-2556)Cct>Tct	p.P852S	HDAC9_ENST00000441542.2_Missense_Mutation_p.P855S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P811S|HDAC9_ENST00000406451.4_Missense_Mutation_p.P852S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	852	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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 deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAACTTTTTCCCTGGCAGTGG	0.443																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2554-2556)Cct>Tct		histone deacetylase 9	Valproic Acid(DB00313)						71.0	72.0	72.0					7																	18875186		2045	4238	6283	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18875186C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2554C>T	7.37:g.18875186C>T	ENSP00000410337:p.Pro852Ser					HDAC9_ENST00000401921.1_Missense_Mutation_p.P811S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P855S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P852S	p.P852S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			20	2704	+	all_lung(11;0.187)		852			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2554C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493053	0.64186	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.56097	D	0.000032	D	0.96658	0.8909	H	0.98833	4.345	0.80722	D	1	D;D;P;P;P;P	0.89917	1.0;1.0;0.601;0.601;0.689;0.601	D;D;B;B;B;B	0.91635	0.999;0.993;0.166;0.166;0.237;0.166	D	0.98055	1.0390	10	0.87932	D	0	-20.6606	18.8634	0.92281	0.0:1.0:0.0:0.0	.	852;100;811;855;852;852	Q9UKV0-4;Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;.;HDAC9_HUMAN;.	S	852;811;852;855;764	ENSP00000384657:P852S;ENSP00000383912:P811S;ENSP00000410337:P852S;ENSP00000408617:P855S	ENSP00000339165:P764S	P	+	1	0	HDAC9	18841711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.711000	0.92665	0.655000	0.94253	CCT		0.443	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			15	21	0	0	0	1	0	15	21				
OR4A16	81327	broad.mit.edu	37	11	55111560	55111560	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr11:55111560C>T	ENST00000314721.2	+	1	934	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGAAAAATGCTATGAAAAAT	0.318																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(883-885)gCt>gTt		olfactory receptor, family 4, subfamily A, member 16							43.0	43.0	43.0					11																	55111560		2201	4295	6496	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111560C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.884C>T	11.37:g.55111560C>T	ENSP00000325128:p.Ala295Val						p.A295V	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	934	+			295					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.884C>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	9.857	1.195286	0.22037	.	.	ENSG00000181961	ENST00000314721	T	0.44881	0.91	3.02	3.02	0.34903	.	.	.	.	.	T	0.36138	0.0956	L	0.43598	1.365	0.18873	N	0.999985	P	0.35077	0.483	B	0.34242	0.178	T	0.31223	-0.9951	9	0.62326	D	0.03	.	11.7964	0.52102	0.0:1.0:0.0:0.0	.	295	Q8NH70	O4A16_HUMAN	V	295	ENSP00000325128:A295V	ENSP00000325128:A295V	A	+	2	0	OR4A16	54868136	0.000000	0.05858	0.994000	0.49952	0.040000	0.13550	0.567000	0.23608	1.687000	0.51057	0.423000	0.28283	GCT		0.318	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		14	13	0	0	0	1	0	14	13				
TUBB4A	10382	broad.mit.edu	37	19	6495339	6495339	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:6495339G>A	ENST00000264071.2	-	4	1542	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R391C|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	391					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R391C(1)									AAGGCCTTGCGCCGGAACATG	0.612																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.R391C(1)	ovary(1)								c.(1171-1173)Cgc>Tgc		tubulin, beta 4A class IVa							152.0	137.0	142.0					19																	6495339		2202	4280	6482	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495339G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1171C>T	19.37:g.6495339G>A	ENSP00000264071:p.Arg391Cys					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R391C	p.R391C			P04350	TBB4_HUMAN			4	1542	-			391					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1171C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862900	0.32884	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85861	-2.04;-2.04	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000001	D	0.94594	0.8258	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.96137	0.9097	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	.	391	P04350	TBB4A_HUMAN	C	391;391;309	ENSP00000264071:R391C;ENSP00000443590:R391C	ENSP00000264071:R391C	R	-	1	0	TUBB4	6446339	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.690000	0.98676	1.473000	0.48159	0.306000	0.20318	CGC		0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		50	119	0	0	0	1	0	50	119				
SORCS1	114815	broad.mit.edu	37	10	108427560	108427560	+	Splice_Site	SNP	G	G	A	rs539985772	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr10:108427560G>A	ENST00000263054.6	-	17	2197	c.2190C>T	c.(2188-2190)tgC>tgT	p.C730C	SORCS1_ENST00000344440.6_Splice_Site_p.C730C|SORCS1_ENST00000369698.1_Splice_Site_p.C265C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	730					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCATAGTCGCTGTTAGGAA	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		17265	0.0		0.0	False		,,,				2504	0.002					ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.e17-1		sortilin-related VPS10 domain containing receptor 1							55.0	50.0	51.0					10																	108427560		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108427560G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2190-1C>T	10.37:g.108427560G>A						SORCS1_ENST00000344440.6_Splice_Site_p.C730_splice|SORCS1_ENST00000369698.1_Splice_Site_p.C265_splice	p.C730_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	17	2197	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	730					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.2189_splice	CCDS7559.1																																																																																				0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Silent	7	21	0	0	0	1	0	7	21				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	56	0	0	0	1	0	5	56				
RYR2	6262	broad.mit.edu	37	1	237774130	237774130	+	Silent	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:237774130G>A	ENST00000366574.2	+	36	5069	c.4752G>A	c.(4750-4752)ccG>ccA	p.P1584P	RYR2_ENST00000542537.1_Silent_p.P1568P|RYR2_ENST00000360064.6_Silent_p.P1582P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1584	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGCCCCCCGCGCCTCCACG	0.537																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4750-4752)ccG>ccA		ryanodine receptor 2 (cardiac)							50.0	52.0	51.0					1																	237774130		1947	4122	6069	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774130G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4752G>A	1.37:g.237774130G>A						RYR2_ENST00000542537.1_Silent_p.P1568P|RYR2_ENST00000360064.6_Silent_p.P1582P	p.P1584P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5069	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1584			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4752G>A	CCDS55691.1																																																																																				0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	11	0	0	0	1	0	6	11				
P2RX4	5025	broad.mit.edu	37	12	121647993	121647993	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:121647993C>T	ENST00000337233.4	+	1	334	c.26C>T	c.(25-27)gCg>gTg	p.A9V	P2RX4_ENST00000359949.7_Missense_Mutation_p.A9V|P2RX4_ENST00000541532.1_Missense_Mutation_p.A9V|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_5'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	9					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCGCGCTGGCGGCCTTCCTG	0.716																																						ENST00000337233.4																			0				breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(25-27)gCg>gTg		purinergic receptor P2X, ligand-gated ion channel, 4							12.0	12.0	12.0					12																	121647993		2179	4258	6437	SO:0001583	missense	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121647993C>T	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.26C>T	12.37:g.121647993C>T	ENSP00000336607:p.Ala9Val					P2RX4_ENST00000543171.1_5'UTR|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.A9V|P2RX4_ENST00000541532.1_Missense_Mutation_p.A9V	p.A9V	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN			1	334	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		9					E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	c.26C>T	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711523	0.48517	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000541532;ENST00000538701;ENST00000542067	T;T;T;T;T	0.21734	3.69;3.7;1.99;2.82;3.58	3.91	-0.717	0.11208	.	1.106290	0.06719	N	0.774485	T	0.06600	0.0169	N	0.02916	-0.46	0.20074	N	0.999934	B;P;P	0.41710	0.281;0.76;0.553	B;B;B	0.25614	0.026;0.062;0.026	T	0.29941	-0.9995	10	0.17369	T	0.5	0.0103	11.2353	0.48936	0.2185:0.1924:0.5891:0.0	.	9;9;9	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	V	9	ENSP00000336607:A9V;ENSP00000353032:A9V;ENSP00000443115:A9V;ENSP00000444033:A9V;ENSP00000438329:A9V	ENSP00000336607:A9V	A	+	2	0	P2RX4	120132376	0.000000	0.05858	0.035000	0.18076	0.898000	0.52572	-2.251000	0.01186	-0.243000	0.09653	0.407000	0.27541	GCG		0.716	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		4	12	0	0	0	1	0	4	12				
SRR	63826	broad.mit.edu	37	17	2222193	2222193	+	Silent	SNP	G	G	A	rs199981539	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:2222193G>A	ENST00000344595.5	+	4	687	c.369G>A	c.(367-369)gcG>gcA	p.A123A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	123					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CCTACGGAGCGTCAATTGTAT	0.453													G|||	3	0.000599042	0.0	0.0	5008	,	,		18457	0.0		0.001	False		,,,				2504	0.002					ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(367-369)gcG>gcA		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						158.0	147.0	151.0					17																	2222193		2203	4300	6503	SO:0001819	synonymous_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2222193G>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.369G>A	17.37:g.2222193G>A						SRR_ENST00000576848.1_Intron	p.A123A	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	4	687	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	123					D3DTI5|Q6IA55	Silent	SNP	ENST00000344595.5	37	c.369G>A	CCDS11017.1																																																																																				0.453	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		6	138	0	0	0	1	0	6	138				
MRPS22	56945	broad.mit.edu	37	3	139071544	139071544	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr3:139071544G>A	ENST00000495075.1	+	8	1220	c.788G>A	c.(787-789)cGt>cAt	p.R263H	MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	263						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GACCTTTTACGTTCAACAAGA	0.323																																						ENST00000495075.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(787-789)cGt>cAt		mitochondrial ribosomal protein S22							156.0	153.0	154.0					3																	139071544		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139071544G>A	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.788G>A	3.37:g.139071544G>A	ENSP00000418008:p.Arg263His					MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H	p.R263H			P82650	RT22_HUMAN			8	1220	+			263					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.788G>A	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334014	0.95758	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.86	5.86	0.93980	.	0.152780	0.64402	D	0.000018	D	0.85687	0.5754	M	0.76838	2.35	0.80722	D	1	P;P;P	0.43094	0.631;0.761;0.799	B;B;B	0.35770	0.094;0.133;0.21	D	0.87662	0.2535	10	0.66056	D	0.02	-3.6688	19.769	0.96353	0.0:0.0:1.0:0.0	.	222;262;263	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	H	263;263;262;222	ENSP00000418008:R263H;ENSP00000310785:R263H;ENSP00000418233:R262H;ENSP00000419303:R222H	ENSP00000310785:R263H	R	+	2	0	MRPS22	140554234	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.966000	0.93397	2.773000	0.95371	0.655000	0.94253	CGT		0.323	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		4	50	0	0	0	1	0	4	50				
RMDN1	51115	broad.mit.edu	37	8	87486552	87486552	+	Silent	SNP	G	G	A	rs150282224		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr8:87486552G>A	ENST00000406452.3	-	10	1089	c.930C>T	c.(928-930)ttC>ttT	p.F310F	RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Silent_p.F280F|RMDN1_ENST00000519966.1_Silent_p.F267F	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	310						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTTCTCACTGAAACTTGTAA	0.289																																						ENST00000406452.3																			0											c.(928-930)ttC>ttT		regulator of microtubule dynamics 1							65.0	71.0	69.0					8																	87486552		2202	4292	6494	SO:0001819	synonymous_variant	51115							g.chr8:87486552G>A	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.930C>T	8.37:g.87486552G>A						RMDN1_ENST00000430676.2_Silent_p.F280F|RMDN1_ENST00000519966.1_Silent_p.F267F|RMDN1_ENST00000523911.1_Intron	p.F310F	NM_016033.2	NP_057117.2					10	1089	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	c.930C>T	CCDS34918.1																																																																																				0.289	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		66	33	0	0	0	1	0	66	33				
SASS6	163786	broad.mit.edu	37	1	100586957	100586957	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:100586957C>A	ENST00000287482.5	-	5	600	c.460G>T	c.(460-462)Gca>Tca	p.A154S	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	154					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AAACAGCCTGCGAGAAATTTC	0.294																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(460-462)Gca>Tca		spindle assembly 6 homolog (C. elegans)							55.0	57.0	56.0					1																	100586957		2202	4300	6502	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100586957C>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.460G>T	1.37:g.100586957C>A	ENSP00000287482:p.Ala154Ser					SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	p.A154S	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	5	600	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	154					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.460G>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830817	0.91036	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.37584	1.19	5.61	5.61	0.85477	.	0.108809	0.64402	D	0.000008	T	0.58666	0.2138	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56709	-0.7934	10	0.44086	T	0.13	-19.0466	20.0018	0.97417	0.0:1.0:0.0:0.0	.	154	Q6UVJ0	SAS6_HUMAN	S	154;127	ENSP00000287482:A154S	ENSP00000287482:A154S	A	-	1	0	SASS6	100359545	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.651000	0.74372	2.793000	0.96121	0.655000	0.94253	GCA		0.294	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		14	36	1	0	3.27435e-08	1	3.48335e-08	14	36				
PCDHB2	56133	broad.mit.edu	37	5	140475698	140475698	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr5:140475698C>A	ENST00000194155.4	+	1	1472	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAACCGTGCTGGTCTCCGA	0.607																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1324-1326)Ctg>Atg									149.0	138.0	142.0					5																	140475698		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475698C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1324C>A	5.37:g.140475698C>A	ENSP00000194155:p.Leu442Met						p.L442M	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1472	+			442			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1324C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	4.072	0.011160	0.07912	.	.	ENSG00000112852	ENST00000194155	T	0.01787	4.64	5.11	-0.624	0.11552	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.58669	1.825	0.09310	N	1	P	0.45902	0.868	P	0.53266	0.722	T	0.38373	-0.9664	9	0.38643	T	0.18	.	1.7076	0.02885	0.3052:0.3825:0.1002:0.2122	.	442	Q9Y5E7	PCDB2_HUMAN	M	442	ENSP00000194155:L442M	ENSP00000194155:L442M	L	+	1	2	PCDHB2	140455882	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.827000	0.01704	-0.088000	0.12506	0.650000	0.86243	CTG		0.607	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	158	1	0	1	1	1	4	158				
RPL10L	140801	broad.mit.edu	37	14	47120583	47120583	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:47120583A>C	ENST00000298283.3	-	1	445	c.357T>G	c.(355-357)ttT>ttG	p.F119L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	119					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGGGTTTTCCAAAGGCACCTC	0.552																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(355-357)ttT>ttG		ribosomal protein L10-like							60.0	61.0	61.0					14																	47120583		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120583A>C	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.357T>G	14.37:g.47120583A>C	ENSP00000298283:p.Phe119Leu						p.F119L	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	445	-			119					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.357T>G	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994917	0.54041	.	.	ENSG00000165496	ENST00000298283	D	0.83250	-1.7	4.38	-2.77	0.05877	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	H	0.98466	4.24	0.58432	D	0.999997	B	0.18610	0.029	B	0.29440	0.102	T	0.81284	-0.1002	10	0.87932	D	0	-26.0728	10.9816	0.47497	0.4325:0.0:0.5675:0.0	.	119	Q96L21	RL10L_HUMAN	L	119	ENSP00000298283:F119L	ENSP00000298283:F119L	F	-	3	2	RPL10L	46190333	0.800000	0.28916	0.966000	0.40874	0.857000	0.48899	-0.049000	0.11924	-0.497000	0.06641	-0.408000	0.06270	TTT		0.552	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			15	21	0	0	0	1	0	15	21				
LYST	1130	broad.mit.edu	37	1	235922371	235922371	+	Missense_Mutation	SNP	C	C	T	rs147791378	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:235922371C>T	ENST00000389794.3	-	23	6956	c.6782G>A	c.(6781-6783)cGt>cAt	p.R2261H	LYST_ENST00000389793.2_Missense_Mutation_p.R2261H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTTGGCCAACGGCCAACAGC	0.478													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18065	0.0		0.0	False		,,,				2504	0.0					ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6781-6783)cGt>cAt		lysosomal trafficking regulator		C	HIS/ARG	0,4406		0,0,2203	73.0	69.0	71.0		6782	2.9	0.0	1	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LYST	NM_000081.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	2261/3802	235922371	4,13002	2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922371C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6782G>A	1.37:g.235922371C>T	ENSP00000374444:p.Arg2261His					LYST_ENST00000389793.2_Missense_Mutation_p.R2261H	p.R2261H			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6956	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2261					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6782G>A	CCDS31062.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	20.4	3.990142	0.74589	0.0	4.65E-4	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67171	-0.25;-0.25	4.93	2.86	0.33363	.	0.597834	0.18240	N	0.147275	T	0.60830	0.2299	M	0.63428	1.95	0.80722	D	1	D	0.63046	0.992	P	0.47346	0.544	T	0.68078	-0.5504	10	0.72032	D	0.01	.	13.4206	0.60996	0.3351:0.6649:0.0:0.0	.	2261	Q99698	LYST_HUMAN	H	2261	ENSP00000374444:R2261H;ENSP00000374443:R2261H	ENSP00000374443:R2261H	R	-	2	0	LYST	233988994	0.597000	0.26874	0.034000	0.17996	0.911000	0.54048	1.232000	0.32636	0.447000	0.26695	0.558000	0.71614	CGT		0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			13	28	0	0	0	1	0	13	28				
HADH	3033	broad.mit.edu	37	4	108954337	108954337	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr4:108954337G>A	ENST00000309522.3	+	7	864	c.715G>A	c.(715-717)Gca>Aca	p.A239T	HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.A315T|HADH_ENST00000603302.1_Missense_Mutation_p.A256T|HADH_ENST00000454409.2_Missense_Mutation_p.A243T|HADH_ENST00000505878.1_Missense_Mutation_p.A243T	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	568					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.A239T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		CTTAGGTGACGCATCCAAAGA	0.453																																						ENST00000505878.1																			1	Substitution - Missense(1)	p.A239T(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(727-729)Gca>Aca		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						133.0	128.0	130.0					4																	108954337		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108954337G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.715G>A	4.37:g.108954337G>A	ENSP00000312288:p.Ala239Thr					HADH_ENST00000309522.3_Missense_Mutation_p.A239T|HADH_ENST00000603302.1_Missense_Mutation_p.A256T|HADH_ENST00000403312.1_Missense_Mutation_p.A315T|HADH_ENST00000454409.2_Missense_Mutation_p.A243T|HADH_ENST00000510728.1_3'UTR	p.A243T			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	8	1000	+		Hepatocellular(203;0.217)	239					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.727G>A	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.288592	0.97444	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.91843	-2.92;-2.92;-2.92	5.86	5.86	0.93980	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.050814	0.85682	D	0.000000	D	0.97043	0.9034	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.986;0.988;0.98	D	0.97420	1.0008	10	0.87932	D	0	-25.3859	18.9646	0.92691	0.0:0.0:1.0:0.0	.	315;243;239	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	T	256;239;243;243	ENSP00000312288:A239T;ENSP00000425952:A243T;ENSP00000395167:A243T	ENSP00000312288:A239T	A	+	1	0	HADH	109173786	1.000000	0.71417	0.296000	0.24974	0.626000	0.37791	7.718000	0.84743	2.771000	0.95319	0.563000	0.77884	GCA		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		33	37	0	0	0	1	0	33	37				
SLC24A1	9187	broad.mit.edu	37	15	65917689	65917689	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr15:65917689C>T	ENST00000261892.6	+	2	1558	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SLC24A1_ENST00000399033.4_Missense_Mutation_p.P424L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.P424L|SLC24A1_ENST00000537259.1_Missense_Mutation_p.P424L|SLC24A1_ENST00000339868.6_Missense_Mutation_p.P424L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.P424L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	424					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGTCCTAGTCCCTCAGTGCTG	0.632																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1270-1272)cCc>cTc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							104.0	103.0	104.0					15																	65917689		2105	4239	6344	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917689C>T	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1271C>T	15.37:g.65917689C>T	ENSP00000261892:p.Pro424Leu					SLC24A1_ENST00000537259.1_Missense_Mutation_p.P424L|SLC24A1_ENST00000399033.4_Missense_Mutation_p.P424L|SLC24A1_ENST00000339868.6_Missense_Mutation_p.P424L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.P424L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.P424L	p.P424L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	1558	+			424					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1271C>T	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413451	0.83449	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.66099	0.04;-0.17;-0.18;-0.17;-0.19;-0.18	5.31	3.44	0.39384	.	0.436525	0.19898	N	0.103563	T	0.51991	0.1707	L	0.51422	1.61	0.42996	D	0.994506	B;B;B;B;B	0.28082	0.023;0.013;0.013;0.2;0.126	B;B;B;B;B	0.26416	0.016;0.007;0.007;0.069;0.031	T	0.46938	-0.9155	10	0.42905	T	0.14	.	7.3312	0.26584	0.1363:0.7148:0.0:0.1489	.	424;424;424;424;424	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	L	424	ENSP00000439693:P424L;ENSP00000261892:P424L;ENSP00000341837:P424L;ENSP00000445163:P424L;ENSP00000381991:P424L;ENSP00000439190:P424L	ENSP00000261892:P424L	P	+	2	0	SLC24A1	63704743	0.001000	0.12720	0.558000	0.28319	0.689000	0.40095	1.317000	0.33631	0.627000	0.30340	0.561000	0.74099	CCC		0.632	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		18	40	0	0	0	1	0	18	40				
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013847	33013847	+	RNA	SNP	T	T	C			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr16:33013847T>C	ENST00000567619.1	-	0	499																											GGGGCCTCAGTGAAGGTCTCC	0.592																																						ENST00000567619.1																			0																																																			0							g.chr16:33013847T>C																													16.37:g.33013847T>C														0	499	-									RNA	SNP	ENST00000567619.1	37																																																																																						0.592	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			15	101	0	0	0	1	0	15	101				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	34	0	0	0	1	0	3	34				
SOAT2	8435	broad.mit.edu	37	12	53499389	53499389	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:53499389G>A	ENST00000301466.3	+	4	380	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	107					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TTCATCATCCGCAAGTCCCTG	0.507																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(319-321)cGc>cAc		sterol O-acyltransferase 2							49.0	46.0	47.0					12																	53499389		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53499389G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.320G>A	12.37:g.53499389G>A	ENSP00000301466:p.Arg107His						p.R107H	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			4	380	+			107					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.320G>A	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482741	0.84747	.	.	ENSG00000167780	ENST00000301466	T	0.21734	1.99	5.48	5.48	0.80851	.	0.198378	0.40908	D	0.000992	T	0.44371	0.1290	M	0.86028	2.79	0.58432	D	0.999999	D	0.71674	0.998	P	0.57324	0.818	T	0.46898	-0.9158	10	0.66056	D	0.02	-17.2476	12.6162	0.56578	0.0804:0.0:0.9196:0.0	.	107	O75908	SOAT2_HUMAN	H	107	ENSP00000301466:R107H	ENSP00000301466:R107H	R	+	2	0	SOAT2	51785656	1.000000	0.71417	0.933000	0.37362	0.995000	0.86356	4.545000	0.60698	2.755000	0.94549	0.655000	0.94253	CGC		0.507	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			3	47	0	0	0	1	0	3	47				
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		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"""		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(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						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578443		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.chr17:7578443A>G	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.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	p.Y163H	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	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	23	0	0	0	1	0	25	23				
KRT6B	3854	broad.mit.edu	37	12	52843383	52843383	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:52843383G>A	ENST00000252252.3	-	5	994	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	316	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CACCACGGATGTGTCTGAGAT	0.522																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(946-948)aCa>aTa		keratin 6B							138.0	124.0	129.0					12																	52843383		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843383G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.947C>T	12.37:g.52843383G>A	ENSP00000252252:p.Thr316Ile						p.T316I	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	994	-			316			Linker 12.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.947C>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063414	0.55432	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.89343	-2.5	3.05	1.19	0.21007	Filament (1);	0.000000	0.64402	D	0.000011	D	0.93943	0.8061	M	0.92691	3.335	0.43238	D	0.995141	D	0.54207	0.965	P	0.61722	0.893	D	0.92980	0.6405	10	0.87932	D	0	.	9.2429	0.37506	0.186:0.0:0.814:0.0	.	316	P04259	K2C6B_HUMAN	I	316;276	ENSP00000252252:T316I	ENSP00000252252:T316I	T	-	2	0	KRT6B	51129650	1.000000	0.71417	0.482000	0.27366	0.632000	0.37999	4.317000	0.59184	0.347000	0.23924	0.298000	0.19748	ACA		0.522	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		12	101	0	0	0	1	0	12	101				
CFHR2	3080	broad.mit.edu	37	1	196874338	196874338	+	Intron	SNP	A	A	G			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:196874338A>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Silent_p.P118P|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ATTGTAAACCAGGATATGCAA	0.299																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(352-354)ccA>ccG		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196874338A>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-44247A>G	1.37:g.196874338A>G						CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	p.P118P	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					3	491	+								Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.354A>G																																																																																					0.299	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		32	61	0	0	0	1	0	32	61				
TRANK1	9881	broad.mit.edu	37	3	36872645	36872645	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr3:36872645C>A	ENST00000429976.2	-	21	8544	c.8297G>T	c.(8296-8298)tGt>tTt	p.C2766F	TRANK1_ENST00000428977.2_Missense_Mutation_p.C2216F|TRANK1_ENST00000301807.6_Missense_Mutation_p.C2216F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2766							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCTCCTGACACTCCTCCCT	0.547																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6646-6648)tGt>tTt		tetratricopeptide repeat and ankyrin repeat containing 1							116.0	116.0	116.0					3																	36872645		2052	4210	6262	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872645C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8297G>T	3.37:g.36872645C>A	ENSP00000416168:p.Cys2766Phe					TRANK1_ENST00000428977.2_Missense_Mutation_p.C2216F|TRANK1_ENST00000429976.2_Missense_Mutation_p.C2766F	p.C2216F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	8544	-			2766					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6647G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	7.141	0.581752	0.13749	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29655	1.56;1.98;1.56	5.48	1.52	0.23074	.	0.488613	0.18821	N	0.130251	T	0.13415	0.0325	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.12553	-1.0543	10	0.46703	T	0.11	.	0.8578	0.01186	0.1574:0.3579:0.153:0.3317	.	2766	O15050	TRNK1_HUMAN	F	2216;2766;2216	ENSP00000416826:C2216F;ENSP00000416168:C2766F;ENSP00000301807:C2216F	ENSP00000301807:C2216F	C	-	2	0	TRANK1	36847649	0.000000	0.05858	0.003000	0.11579	0.484000	0.33280	-0.000000	0.12993	0.815000	0.34398	0.555000	0.69702	TGT		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		8	84	1	0	3.09899e-07	1	3.22811e-07	8	84				
CERCAM	51148	broad.mit.edu	37	9	131196779	131196779	+	Silent	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr9:131196779G>A	ENST00000372838.4	+	11	1820	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Silent_p.T396T	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	474					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTACTGGACGCTGGCCTATG	0.662																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(1186-1188)acG>acA		cerebral endothelial cell adhesion molecule							49.0	50.0	50.0					9																	131196779		2203	4300	6503	SO:0001819	synonymous_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131196779G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1422G>A	9.37:g.131196779G>A						CERCAM_ENST00000372838.4_Silent_p.T474T	p.T396T			Q5T4B2	GT253_HUMAN			12	4332	+			474					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	c.1188G>A	CCDS6901.2																																																																																				0.662	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		24	32	0	0	0	1	0	24	32				
PCNX	22990	broad.mit.edu	37	14	71485738	71485738	+	Silent	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:71485738C>T	ENST00000304743.2	+	12	3455	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	PCNX_ENST00000238570.5_Silent_p.I1003I|PCNX_ENST00000439984.3_Silent_p.I892I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1003						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCGTGAGATCCTGGAAAATG	0.373																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3007-3009)atC>atT		pecanex homolog (Drosophila)							200.0	178.0	186.0					14																	71485738		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71485738C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3009C>T	14.37:g.71485738C>T						PCNX_ENST00000238570.5_Silent_p.I1003I|PCNX_ENST00000439984.3_Silent_p.I892I	p.I1003I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	12	3455	+			1003					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.3009C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156353	0.21454	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.69	2.42	0.29668	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	8.0898	0.30795	0.1259:0.693:0.1094:0.0716	.	.	.	.	F	62	.	.	S	+	2	0	PCNX	70555491	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.640000	0.24705	0.695000	0.31675	0.655000	0.94253	TCC		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		43	78	0	0	0	1	0	43	78				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	207	1	0	8.12818e-05	1	8.29407e-05	6	207				
CYLC1	1538	broad.mit.edu	37	X	83129065	83129065	+	Missense_Mutation	SNP	C	C	T	rs375048079		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chrX:83129065C>T	ENST00000329312.4	+	4	1386	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	450					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GACTCTGAACCGAAGGGAGAT	0.338																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1348-1350)cCg>cTg		cylicin, basic protein of sperm head cytoskeleton 1		C	LEU/PRO	2,3829		0,1,1,1630,568	25.0	22.0	23.0		1349	3.8	1.0	X		23	0,6724		0,0,0,2427,1870	no	missense	CYLC1	NM_021118.1	98	0,1,1,4057,2438	TT,TC,T,CC,C		0.0,0.0522,0.0189	probably-damaging	450/652	83129065	2,10553	2200	4297	6497	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129065C>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1349C>T	X.37:g.83129065C>T	ENSP00000331556:p.Pro450Leu						p.P450L	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1386	+			450					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1349C>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	8.559	0.877299	0.17395	5.22E-4	0.0	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.21191	2.02	3.82	3.82	0.43975	.	.	.	.	.	T	0.13030	0.0316	N	0.22421	0.69	0.33486	D	0.588022	B;B	0.33904	0.431;0.431	B;B	0.26770	0.073;0.073	T	0.16217	-1.0410	9	0.56958	D	0.05	-0.0135	10.1594	0.42842	0.0:1.0:0.0:0.0	.	450;450	P35663;F5H4V5	CYLC1_HUMAN;.	L	450	ENSP00000331556:P450L	ENSP00000331556:P450L	P	+	2	0	CYLC1	83015721	0.997000	0.39634	0.984000	0.44739	0.010000	0.07245	0.509000	0.22707	2.153000	0.67306	0.600000	0.82982	CCG		0.338	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		9	3	0	0	0	1	0	9	3				
MYL12A	10627	broad.mit.edu	37	18	3255826	3255826	+	Silent	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr18:3255826C>T	ENST00000217652.3	+	4	821	c.426C>T	c.(424-426)taC>taT	p.Y142Y	MYL12A_ENST00000578611.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Silent_p.Y148Y|MYL12A_ENST00000536605.1_Silent_p.Y142Y|MYL12A_ENST00000579226.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000581905.1_RNA	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	142	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						ATGAGCTGTACAGAGAAGCAC	0.423																																						ENST00000217652.3																			0				NS(1)|kidney(2)|large_intestine(2)	5						c.(424-426)taC>taT		myosin, light chain 12A, regulatory, non-sarcomeric							87.0	75.0	79.0					18																	3255826		2203	4300	6503	SO:0001819	synonymous_variant	10627					myosin complex	calcium ion binding|protein binding	g.chr18:3255826C>T	X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.426C>T	18.37:g.3255826C>T						MYL12A_ENST00000536605.1_Silent_p.Y142Y|MYL12A_ENST00000578611.1_Silent_p.Y142Y|MYL12A_ENST00000579226.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Silent_p.Y148Y|RP13-270P17.1_ENST00000581905.1_RNA	p.Y142Y	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN			4	821	+			142			EF-hand 3.		Q53X45	Silent	SNP	ENST00000217652.3	37	c.426C>T	CCDS11830.1																																																																																				0.423	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254364.2	NM_006471		8	24	0	0	0	1	0	8	24				
GTPBP1	9567	broad.mit.edu	37	22	39112791	39112791	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr22:39112791G>A	ENST00000216044.5	+	4	853	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	207	G2. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAATCTGGTCGCACCAGCAGT	0.567																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(619-621)cGc>cAc		GTP binding protein 1							106.0	94.0	98.0					22																	39112791		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112791G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.620G>A	22.37:g.39112791G>A	ENSP00000216044:p.Arg207His						p.R207H	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			4	853	+	Melanoma(58;0.04)		207					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.620G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	34	5.308445	0.95629	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70631	-0.5;-0.5	5.05	5.05	0.67936	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.93420	3.415	0.80722	D	1	P	0.47191	0.891	P	0.47376	0.545	D	0.88567	0.3127	10	0.87932	D	0	.	18.4028	0.90522	0.0:0.0:1.0:0.0	.	207	O00178	GTPB1_HUMAN	H	207;126	ENSP00000216044:R207H;ENSP00000442881:R126H	ENSP00000216044:R207H	R	+	2	0	GTPBP1	37442737	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.701000	0.98710	2.321000	0.78463	0.551000	0.68910	CGC		0.567	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		13	41	0	0	0	1	0	13	41				
SSTR1	6751	broad.mit.edu	37	14	38679324	38679324	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:38679324G>A	ENST00000267377.2	+	3	1347	c.730G>A	c.(730-732)Gtg>Atg	p.V244M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	244					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CCTGTGCTACGTGCTCATCAT	0.597																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(730-732)Gtg>Atg		somatostatin receptor 1	Octreotide(DB00104)						52.0	49.0	50.0					14																	38679324		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679324G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.730G>A	14.37:g.38679324G>A	ENSP00000267377:p.Val244Met						p.V244M	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1347	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		244						Missense_Mutation	SNP	ENST00000267377.2	37	c.730G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047510	0.55110	.	.	ENSG00000139874	ENST00000267377	T	0.72394	-0.65	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.147976	0.31673	N	0.007244	T	0.69242	0.3089	L	0.46885	1.475	0.33061	D	0.534076	P	0.50528	0.936	P	0.51974	0.686	T	0.77413	-0.2597	10	0.66056	D	0.02	.	6.607	0.22731	0.1916:0.0:0.8084:0.0	.	244	P30872	SSR1_HUMAN	M	244	ENSP00000267377:V244M	ENSP00000267377:V244M	V	+	1	0	SSTR1	37749075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.548000	0.36201	2.514000	0.84764	0.561000	0.74099	GTG		0.597	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			8	29	0	0	0	1	0	8	29				
OR5D14	219436	broad.mit.edu	37	11	55563060	55563060	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr11:55563060T>C	ENST00000335605.1	+	1	29	c.29T>C	c.(28-30)aTg>aCg	p.M10T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATCTGAGCATGGAGCCCACC	0.403																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(28-30)aTg>aCg		olfactory receptor, family 5, subfamily D, member 14							105.0	104.0	104.0					11																	55563060		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563060T>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.29T>C	11.37:g.55563060T>C	ENSP00000334456:p.Met10Thr						p.M10T	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	29	+		all_epithelial(135;0.196)	10					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.29T>C	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	t	0.092	-1.165563	0.01673	.	.	ENSG00000186113	ENST00000335605	T	0.19250	2.16	4.54	-0.415	0.12355	.	1.631570	0.03782	N	0.261530	T	0.08714	0.0216	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.14252	T	0.57	-0.3327	5.0999	0.14754	0.0:0.3757:0.1648:0.4595	.	10	Q8NGL3	OR5DE_HUMAN	T	10	ENSP00000334456:M10T	ENSP00000334456:M10T	M	+	2	0	OR5D14	55319636	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.443000	0.21644	0.008000	0.14787	-0.276000	0.10085	ATG		0.403	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		51	89	0	0	0	1	0	51	89				
ERN1	2081	broad.mit.edu	37	17	62133144	62133144	+	Silent	SNP	C	C	T			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:62133144C>T	ENST00000433197.3	-	13	1658	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCTGGTGCCCGAGCTCTCTG	0.682																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1561-1563)tcG>tcA		endoplasmic reticulum to nucleus signaling 1							13.0	16.0	15.0					17																	62133144		2074	4225	6299	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62133144C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1563G>A	17.37:g.62133144C>T							p.S521S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			13	1658	-			521						Silent	SNP	ENST00000433197.3	37	c.1563G>A	CCDS45762.1																																																																																				0.682	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		3	7	0	0	0	1	0	3	7				
LINC01359	101927084	broad.mit.edu	37	1	65451792	65451793	+	lincRNA	INS	-	-	T	rs113756498|rs35258864		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:65451792_65451793insT	ENST00000447748.1	-	0	1775																											CAATCTAATTGttttttttttt	0.49																																						ENST00000447748.1																			0																																																			0							g.chr1:65451792_65451793insT																													1.37:g.65451803_65451803dupT														0	1775	-									RNA	INS	ENST00000447748.1	37																																																																																						0.490	RP11-182I10.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000025780.1			5	9						5	9	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31774769	31774769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr3:31774769delT	ENST00000396556.2	-	6	1197	c.1075delA	c.(1075-1077)accfs	p.T359fs	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.T295fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	359					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGCTGTGAGGTTTGTTCGTCT	0.448																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1075-1077)ccfs		oxysterol binding protein-like 10							142.0	135.0	138.0					3																	31774769		2203	4300	6503	SO:0001589	frameshift_variant	114884				lipid transport		lipid binding	g.chr3:31774769delT	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1075delA	3.37:g.31774769delT	ENSP00000379804:p.Thr359fs					OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.T295fs	p.T359fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	6	1197	-			359					B4E212|Q9BTU5	Frame_Shift_Del	DEL	ENST00000396556.2	37	c.1075delA	CCDS2651.1																																																																																				0.448	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			28	70						28	70	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6760766	6760766	+	RNA	DEL	G	G	-	rs143857938	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr7:6760766delG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		CCATCTCTCTGTCCTCACAAC	0.517													g|G|-|deletion	143	0.0285543	0.0408	0.0375	5008	,	,		16323	0.0		0.0417	False		,,,				2504	0.0215					ENST00000486256.1																			0																																																			0							g.chr7:6760766delG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6760766delG								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	DEL	ENST00000486256.1	37																																																																																						0.517	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		7	4						7	4	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		AAATGGGGACCAAAAAAAAAAA	0.351																																						ENST00000426828.1																			0																																																			0							g.chr7:64532708_64532709insA			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532719_64532719dupA								NR_033416.1						0	1228	+									RNA	INS	ENST00000426828.1	37																																																																																						0.351	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95844240	95844240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr8:95844240delT	ENST00000523731.1	+	6	724	c.591delT	c.(589-591)gatfs	p.D197fs	INTS8_ENST00000447247.1_Frame_Shift_Del_p.D197fs	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	197					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGCTGCTGATTCTATTTTGG	0.313																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(589-591)gafs		integrator complex subunit 8							46.0	46.0	46.0					8																	95844240		2203	4300	6503	SO:0001589	frameshift_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95844240delT	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.591delT	8.37:g.95844240delT	ENSP00000430338:p.Asp197fs					INTS8_ENST00000447247.1_Frame_Shift_Del_p.D197fs	p.D197fs	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			6	724	+	Breast(36;1.05e-06)		197					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Frame_Shift_Del	DEL	ENST00000523731.1	37	c.591delT	CCDS34925.1																																																																																				0.313	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		47	32						47	32	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409541	+	RNA	INS	-	-	C	rs200693606|rs371270332|rs550259665	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:22409540_22409541insC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		tctctctctctTTTTTTTTTTC	0.426																																						ENST00000390441.2																			0																	154,3322		5,144,1589							0.0		dbSNP_129	22	434,7342		4,426,3458	no	intergenic				9,570,5047	A1A1,A1R,RR		5.5813,4.4304,5.2257				588,10664						0							g.chr14:22409540_22409541insC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409540_22409541insC														0	102	+									RNA	INS	ENST00000390441.2	37																																																																																						0.426	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		2	4						2	4	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88800373	88800375	+	In_Frame_Del	DEL	TCC	TCC	-	rs572934641|rs59446030	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr16:88800373_88800375delTCC	ENST00000301015.9	-	17	2514_2516	c.2268_2270delGGA	c.(2266-2271)gaggac>gac	p.E756del	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	756					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GTCCCTGGAGtcctcctcctcct	0.685														256	0.0511182	0.1785	0.0187	5008	,	,		22177	0.001		0.001	False		,,,				2504	0.0051					ENST00000301015.9																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						c.(2266-2271)gac>ga		piezo-type mechanosensitive ion channel component 1																																				SO:0001651	inframe_deletion	9780					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	g.chr16:88800373_88800375delTCC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2268_2270delGGA	16.37:g.88800382_88800384delTCC	ENSP00000301015:p.Glu756del					RP5-1142A6.2_ENST00000440406.2_RNA	p.ED756del	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN			17	2514_2516	-			756					A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	ENST00000301015.9	37	c.2268_2270delGGA	CCDS54058.1																																																																																				0.685	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	46						8	46	---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117285	20117293	+	In_Frame_Del	DEL	TTTATAGGG	TTTATAGGG	-	rs193056478	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:20117285_20117293delTTTATAGGG	ENST00000397165.2	-	4	1178_1186	c.1018_1026delCCCTATAAA	c.(1018-1026)ccctataaadel	p.PYK340del	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_In_Frame_Del_p.PYK346del|ZNF682_ENST00000358523.5_In_Frame_Del_p.PYK308del|ZNF682_ENST00000595736.1_In_Frame_Del_p.PYK264del|ZNF682_ENST00000397162.1_In_Frame_Del_p.PYK308del	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATTCTTCACATTTATAGGGTTTCTCTCCC	0.378																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1018-1026)del		zinc finger protein 682																																				SO:0001651	inframe_deletion	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117285_20117293delTTTATAGGG	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1018_1026delCCCTATAAA	19.37:g.20117285_20117293delTTTATAGGG	ENSP00000380351:p.Pro340_Lys342del					ZNF682_ENST00000397162.1_In_Frame_Del_p.PYK308del|ZNF682_ENST00000597972.1_In_Frame_Del_p.PYK346del|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_In_Frame_Del_p.PYK264del|ZNF682_ENST00000358523.5_In_Frame_Del_p.PYK308del	p.PYK340del	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1178_1186	-			340					B3KU64|E9PFJ5|Q96JV9	In_Frame_Del	DEL	ENST00000397165.2	37	c.1018_1026delCCCTATAAA	CCDS42533.1																																																																																				0.378	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		15	66						15	66	---	---	---	---
CLDND2	125875	broad.mit.edu	37	19	51871170	51871170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:51871170delG	ENST00000291715.1	-	2	705	c.280delC	c.(280-282)cagfs	p.Q94fs	ETFB_ENST00000309244.4_5'Flank|CLDND2_ENST00000601435.1_Frame_Shift_Del_p.Q94fs|CTD-2616J11.11_ENST00000600067.1_Frame_Shift_Del_p.Q29fs|CTD-2616J11.10_ENST00000595500.1_RNA	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	94						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCGTGGTCTGGCCCCGCAGC	0.716																																						ENST00000291715.1																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(280-282)agfs		claudin domain containing 2							23.0	24.0	24.0					19																	51871170		2195	4298	6493	SO:0001589	frameshift_variant	125875					integral to membrane		g.chr19:51871170delG	BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.280delC	19.37:g.51871170delG	ENSP00000291715:p.Gln94fs					CTD-2616J11.11_ENST00000600067.1_Frame_Shift_Del_p.Q29fs|CLDND2_ENST00000601435.1_Frame_Shift_Del_p.Q94fs	p.Q94fs	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	705	-		all_neural(266;0.0199)	94						Frame_Shift_Del	DEL	ENST00000291715.1	37	c.280delC	CCDS12829.1																																																																																				0.716	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353		7	12						7	12	---	---	---	---
