#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
ABCC8	6833	broad.mit.edu	37	11	17426127	17426127	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:17426127G>A	ENST00000389817.3	-	28	3557	c.3489C>T	c.(3487-3489)ttC>ttT	p.F1163F	ABCC8_ENST00000302539.4_Silent_p.F1164F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1163	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGGCCACGAGGAACACAGGTG	0.627																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3490-3492)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						104.0	73.0	83.0					11																	17426127		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17426127G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3489C>T	11.37:g.17426127G>A						ABCC8_ENST00000389817.3_Silent_p.F1163F	p.F1164F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	28	3617	-			1163			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3492C>T	CCDS31437.1																																																																																				0.627	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		17	96	0	0	0	0.160694	0	17	96				
DLAT	1737	broad.mit.edu	37	11	111916646	111916646	+	Silent	SNP	C	C	T	rs587724011		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:111916646C>T	ENST00000280346.6	+	10	2009	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DLAT_ENST00000393051.1_Silent_p.I345I|DLAT_ENST00000537636.1_Silent_p.I221I	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	450	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		ACCTTTCTATCGATGTAAATA	0.299																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1348-1350)atC>atT		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						83.0	74.0	77.0					11																	111916646		2201	4295	6496	SO:0001819	synonymous_variant	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111916646C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1350C>T	11.37:g.111916646C>T						DLAT_ENST00000393051.1_Silent_p.I345I|DLAT_ENST00000537636.1_Silent_p.I221I	p.I450I	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	10	2009	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	450			Catalytic (By similarity).		Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	c.1350C>T	CCDS8354.1																																																																																				0.299	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		10	54	0	0	0	0.069234	0	10	54				
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:167162315C>T	ENST00000409435.1	-	4	582	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000375387.4_Missense_Mutation_p.V196I|SCN9A_ENST00000303354.6_Missense_Mutation_p.V196I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	195					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.V195I(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAACAATGACGACAAAATCC	0.398																																						ENST00000375387.4																			2	Substitution - Missense(2)	p.V195I(2)	urinary_tract(1)|central_nervous_system(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(586-588)Gtc>Atc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						74.0	72.0	73.0					2																	167162315		1856	4115	5971	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167162315C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.583G>A	2.37:g.167162315C>T	ENSP00000386330:p.Val195Ile					SCN9A_ENST00000409435.1_Missense_Mutation_p.V195I|SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000303354.6_Missense_Mutation_p.V196I	p.V196I			Q15858	SCN9A_HUMAN			5	926	-			195					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.586G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	c	15.78	2.932998	0.52866	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	6.16	4.38	0.52667	Ion transport (1);	0.626925	0.14981	N	0.287256	D	0.98210	0.9408	L	0.42487	1.325	0.48901	D	0.999722	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.962;0.996;0.99	D	0.97493	1.0055	10	0.87932	D	0	.	13.154	0.59505	0.0:0.871:0.0:0.129	.	195;195;196	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	I	195;196;196;195;60;60	ENSP00000386306:V195I;ENSP00000364536:V196I;ENSP00000304748:V196I;ENSP00000386330:V195I;ENSP00000413212:V60I;ENSP00000393141:V60I	ENSP00000304748:V196I	V	-	1	0	SCN9A	166870561	1.000000	0.71417	0.674000	0.29902	0.060000	0.15804	7.818000	0.86416	0.936000	0.37367	-0.157000	0.13467	GTC		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		13	44	0	0	0	0.119110	0	13	44				
AKAP10	11216	broad.mit.edu	37	17	19835244	19835244	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:19835244C>T	ENST00000225737.6	-	10	1672	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	RP11-209D14.4_ENST00000583067.1_RNA|AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	505	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGAGATCATTCAAATATTTAT	0.418																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1513-1515)ttG>ttA		A kinase (PRKA) anchor protein 10							43.0	48.0	47.0					17																	19835244		2203	4300	6503	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19835244C>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1515G>A	17.37:g.19835244C>T						AKAP10_ENST00000395536.3_Intron	p.L505L	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			10	1672	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		505			RGS 2.		B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.1515G>A	CCDS11214.1																																																																																				0.418	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		15	107	0	0	0	0.132662	0	15	107				
PLCB3	5331	broad.mit.edu	37	11	64033385	64033385	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:64033385G>A	ENST00000540288.1	+	26	3166	c.3063G>A	c.(3061-3063)acG>acA	p.T1021T	PLCB3_ENST00000279230.6_Silent_p.T1021T|PLCB3_ENST00000325234.5_Silent_p.T954T	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1021					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGAGGACACGAAGGAGGGGG	0.662																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3061-3063)acG>acA		phospholipase C, beta 3 (phosphatidylinositol-specific)							53.0	47.0	49.0					11																	64033385		2200	4297	6497	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033385G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3063G>A	11.37:g.64033385G>A						PLCB3_ENST00000325234.5_Silent_p.T954T|PLCB3_ENST00000279230.6_Silent_p.T1021T	p.T1021T	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			26	3166	+			1021					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.3063G>A	CCDS8064.1																																																																																				0.662	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			21	29	0	0	0	0.062417	0	21	29				
BCKDK	10295	broad.mit.edu	37	16	31122691	31122691	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:31122691G>A	ENST00000394951.1	+	11	1539	c.916G>A	c.(916-918)Gat>Aat	p.D306N	BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Missense_Mutation_p.D306N|BCKDK_ENST00000394950.3_Missense_Mutation_p.D306N|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	306	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CGCCAACAATGATGTCGATCT	0.507																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(916-918)Gat>Aat		branched chain ketoacid dehydrogenase kinase							154.0	122.0	133.0					16																	31122691		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122691G>A	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.916G>A	16.37:g.31122691G>A	ENSP00000378405:p.Asp306Asn					BCKDK_ENST00000394950.3_Missense_Mutation_p.D306N|BCKDK_ENST00000219794.6_Missense_Mutation_p.D306N|BCKDK_ENST00000287507.3_Intron	p.D306N			O14874	BCKD_HUMAN			11	1539	+			306			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.916G>A	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714075	0.68730	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950	T;T;T	0.77229	-1.08;-1.08;-1.08	6.08	6.08	0.98989	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	N	0.21097	0.63	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	T	0.75360	-0.3345	10	0.25106	T	0.35	-1.5292	19.4349	0.94788	0.0:0.0:1.0:0.0	.	306	O14874	BCKD_HUMAN	N	306	ENSP00000378405:D306N;ENSP00000219794:D306N;ENSP00000378404:D306N	ENSP00000219794:D306N	D	+	1	0	BCKDK	31030192	1.000000	0.71417	0.924000	0.36721	0.965000	0.64279	7.207000	0.77899	2.894000	0.99253	0.655000	0.94253	GAT		0.507	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		17	68	0	0	0	0.049695	0	17	68				
MTHFSD	64779	broad.mit.edu	37	16	86585794	86585794	+	Intron	SNP	G	G	A	rs546332097		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:86585794G>A	ENST00000360900.6	-	3	149				MTHFSD_ENST00000381214.5_Silent_p.F76F|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.F75F|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000322911.6_Intron	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTCAAGGACGAAGAAGCGAG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19020	0.001		0.0	False		,,,				2504	0.0					ENST00000381214.5																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(226-228)ttC>ttT		methenyltetrahydrofolate synthetase domain containing							91.0	91.0	91.0					16																	86585794		1915	4123	6038	SO:0001627	intron_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86585794G>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.124-42C>T	16.37:g.86585794G>A						MTHFSD_ENST00000360900.6_Intron|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.F75F	p.F76F	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN			3	246	-			76					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.228C>T	CCDS54047.1																																																																																				0.488	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		42	29	0	0	0	0.086207	0	42	29				
ABCA10	10349	broad.mit.edu	37	17	67186544	67186544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:67186544C>A	ENST00000269081.4	-	19	2995	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	696					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGAATACTTCATTCAGAGAT	0.333																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2086-2088)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 10							107.0	102.0	104.0					17																	67186544		2203	4300	6503	SO:0001587	stop_gained	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67186544C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2086G>T	17.37:g.67186544C>A	ENSP00000269081:p.Glu696*					ABCA10_ENST00000416101.2_3'UTR	p.E696*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			19	2995	-	Breast(10;6.95e-12)		696					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.2086G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	45	11.890879	0.99614	.	.	ENSG00000154263	ENST00000269081	.	.	.	2.99	1.98	0.26296	.	0.000000	0.34725	U	0.003740	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0719	0.42339	0.0:0.8937:0.0:0.1063	.	.	.	.	X	696	.	ENSP00000269081:E696X	E	-	1	0	ABCA10	64698139	0.954000	0.32549	0.012000	0.15200	0.557000	0.35523	2.638000	0.46562	0.558000	0.29135	0.563000	0.77884	GAA		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		19	98	1	0	3.51602e-12	0.049695	4.04178e-12	19	98				
MTMR10	54893	broad.mit.edu	37	15	31234209	31234209	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr15:31234209C>T	ENST00000435680.1	-	16	1895	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	600	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGAAGTAATTCTTGGTCACTG	0.408																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1798-1800)Gaa>Aaa		myotubularin related protein 10							179.0	181.0	180.0					15																	31234209		1899	4121	6020	SO:0001583	missense	54893						phosphatase activity	g.chr15:31234209C>T	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1798G>A	15.37:g.31234209C>T	ENSP00000402537:p.Glu600Lys					FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	p.E600K	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	16	1895	-		all_lung(180;2.81e-11)	600			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.1798G>A	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720488	0.89205	.	.	ENSG00000166912	ENST00000435680	T	0.47869	0.83	5.67	3.74	0.42951	Myotubularin phosphatase domain (1);	.	.	.	.	T	0.44850	0.1313	L	0.57536	1.79	0.80722	D	1	B	0.28713	0.22	B	0.33121	0.158	T	0.26121	-1.0112	9	0.30854	T	0.27	.	11.1393	0.48394	0.0:0.8021:0.129:0.0689	.	600	Q9NXD2	MTMRA_HUMAN	K	600	ENSP00000402537:E600K	ENSP00000402537:E600K	E	-	1	0	MTMR10	29021501	1.000000	0.71417	0.002000	0.10522	0.963000	0.63663	4.468000	0.60162	0.712000	0.32039	0.655000	0.94253	GAA		0.408	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		9	320	0	0	0	0.047766	0	9	320				
SVEP1	79987	broad.mit.edu	37	9	113168736	113168736	+	Silent	SNP	G	G	A	rs371371607		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:113168736G>A	ENST00000401783.2	-	38	9480	c.9144C>T	c.(9142-9144)gcC>gcT	p.A3048A	SVEP1_ENST00000374469.1_Silent_p.A3025A|SVEP1_ENST00000297826.5_Silent_p.A974A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3048	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGGCCATCGGCTTCACAGG	0.498																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9142-9144)gcC>gcT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1		G		0,3834		0,0,1917	50.0	50.0	50.0		9144	4.8	1.0	9		50	1,8285		0,1,4142	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6059	AA,AG,GG		0.0121,0.0,0.0083		3048/3572	113168736	1,12119	1917	4143	6060	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168736G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9144C>T	9.37:g.113168736G>A						SVEP1_ENST00000374469.1_Silent_p.A3025A|SVEP1_ENST00000297826.5_Silent_p.A974A	p.A3048A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9480	-			3048			Sushi 27.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.9144C>T	CCDS48004.1																																																																																				0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				49	31	0	0	0	0.139131	0	49	31				
PPL	5493	broad.mit.edu	37	16	4947769	4947769	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:4947769C>T	ENST00000345988.2	-	9	968	c.879G>A	c.(877-879)gcG>gcA	p.A293A	PPL_ENST00000590782.2_Silent_p.A291A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	293					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTCCATGTGCGCCTGCCAGG	0.612																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(877-879)gcG>gcA		periplakin							63.0	50.0	55.0					16																	4947769		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4947769C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.879G>A	16.37:g.4947769C>T						PPL_ENST00000590782.2_Silent_p.A291A	p.A293A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			9	968	-			293					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.879G>A	CCDS10526.1																																																																																				0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		3	28	0	0	0	0.115264	0	3	28				
THBS2	7058	broad.mit.edu	37	6	169648954	169648954	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:169648954C>T	ENST00000366787.3	-	4	416	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	56	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCGCACGAAGCGGTAAGCCGG	0.587																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(166-168)cGc>cAc		thrombospondin 2							116.0	96.0	103.0					6																	169648954		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648954C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.167G>A	6.37:g.169648954C>T	ENSP00000355751:p.Arg56His						p.R56H	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	416	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	56			Heparin-binding (Potential).|TSP N-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.167G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806796	0.70682	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02525	4.26;4.26	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41938	U	0.000796	T	0.10637	0.0260	M	0.77103	2.36	0.43271	D	0.995225	D	0.89917	1.0	D	0.87578	0.998	T	0.02567	-1.1140	10	0.87932	D	0	-44.5643	17.4031	0.87466	0.0:1.0:0.0:0.0	.	56	P35442	TSP2_HUMAN	H	56	ENSP00000355751:R56H;ENSP00000398928:R56H	ENSP00000355751:R56H	R	-	2	0	THBS2	169390879	1.000000	0.71417	0.920000	0.36463	0.385000	0.30292	5.604000	0.67626	2.180000	0.69256	0.462000	0.41574	CGC		0.587	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		14	31	0	0	0	0.119110	0	14	31				
PRR16	51334	broad.mit.edu	37	5	120021719	120021719	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:120021719C>T	ENST00000407149.2	+	2	439	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PRR16_ENST00000446965.1_Missense_Mutation_p.T7M|PRR16_ENST00000379551.2_Missense_Mutation_p.T54M|PRR16_ENST00000505123.1_Missense_Mutation_p.T7M			Q569H4	LARGN_HUMAN	proline rich 16	77					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.T54M(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGCTCCAAAACGGACACGCTG	0.502																																						ENST00000379551.2																			1	Substitution - Missense(1)	p.T54M(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(160-162)aCg>aTg		proline rich 16							109.0	100.0	103.0					5																	120021719		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021719C>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.230C>T	5.37:g.120021719C>T	ENSP00000385118:p.Thr77Met					PRR16_ENST00000505123.1_Missense_Mutation_p.T7M|PRR16_ENST00000446965.1_Missense_Mutation_p.T7M|PRR16_ENST00000407149.2_Missense_Mutation_p.T77M	p.T54M	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	518	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	77					D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.161C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.112447	0.77210	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66720	-0.5852	9	.	.	.	-7.6585	18.0795	0.89438	0.0:1.0:0.0:0.0	.	77;54	Q569H4;Q569H4-3	PRR16_HUMAN;.	M	77;54;7;7;7	ENSP00000385118:T77M;ENSP00000368869:T54M;ENSP00000421256:T7M;ENSP00000423446:T7M;ENSP00000405491:T7M	.	T	+	2	0	PRR16	120049618	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.425000	0.80255	2.568000	0.86640	0.555000	0.69702	ACG		0.502	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		30	85	0	0	0	0.134883	0	30	85				
UTRN	7402	broad.mit.edu	37	6	145069596	145069596	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:145069596G>A	ENST00000367545.3	+	54	8154	c.8154G>A	c.(8152-8154)aaG>aaA	p.K2718K	UTRN_ENST00000367526.4_Silent_p.K273K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2718					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGGCTGGAAGCCCGTGGGAG	0.473																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8152-8154)aaG>aaA		utrophin							81.0	81.0	81.0					6																	145069596		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145069596G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8154G>A	6.37:g.145069596G>A						UTRN_ENST00000367526.4_Silent_p.K273K	p.K2718K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	54	8154	+		Ovarian(120;0.218)	2718					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8154G>A	CCDS34547.1																																																																																				0.473	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	60	0	0	0	0.115264	0	3	60				
FNBP1	23048	broad.mit.edu	37	9	132691881	132691881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:132691881C>A	ENST00000446176.2	-	7	793	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	FNBP1_ENST00000420781.1_Nonsense_Mutation_p.E203*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.E203*|FNBP1_ENST00000478129.1_5'Flank	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	203	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TGGTAATATTCATGCTGCTCA	0.423			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(607-609)Gaa>Taa		formin binding protein 1							246.0	239.0	241.0					9																	132691881		1961	4158	6119	SO:0001587	stop_gained	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132691881C>A	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.607G>T	9.37:g.132691881C>A	ENSP00000413625:p.Glu203*					FNBP1_ENST00000446176.2_Nonsense_Mutation_p.E203*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.E203*	p.E203*			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	7	825	-		Ovarian(14;0.000536)	203			Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Nonsense_Mutation	SNP	ENST00000446176.2	37	c.607G>T	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.287314|7.287314	0.98189|0.98189	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681|ENST00000449089	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.144735|.	0.64402|.	D|.	0.000011|.	.|T	.|0.74215	.|0.3687	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73300	.|-0.4026	.|4	0.09843|.	T|.	0.71|.	-26.575|-26.575	17.9334|17.9334	0.89005|0.89005	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	203|164	.|.	ENSP00000347907:E203X|.	E|M	-|-	1|3	0|0	FNBP1|FNBP1	131731702|131731702	1.000000|1.000000	0.71417|0.71417	0.528000|0.528000	0.27938|0.27938	0.978000|0.978000	0.69477|0.69477	5.774000|5.774000	0.68906|0.68906	2.458000|2.458000	0.83093|0.83093	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.423	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			4	142	1	0	0.00909568	0.150653	0.010079	4	142				
HECTD3	79654	broad.mit.edu	37	1	45475780	45475780	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:45475780T>C	ENST00000372172.4	-	4	708	c.637A>G	c.(637-639)Aca>Gca	p.T213A	HECTD3_ENST00000372168.3_5'Flank|UROD_ENST00000246337.4_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	213					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TAGGTCCATGTCGGGGGTACA	0.567																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(637-639)Aca>Gca		HECT domain containing E3 ubiquitin protein ligase 3							117.0	126.0	123.0					1																	45475780		2140	4233	6373	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45475780T>C	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.637A>G	1.37:g.45475780T>C	ENSP00000361245:p.Thr213Ala						p.T213A	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			4	708	-	Acute lymphoblastic leukemia(166;0.155)		213					B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.637A>G	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492261	0.44352	.	.	ENSG00000126107	ENST00000372172	T	0.63096	-0.02	4.23	4.23	0.50019	Galactose-binding domain-like (1);	0.061401	0.64402	D	0.000005	T	0.47060	0.1425	L	0.27053	0.805	0.80722	D	1	B	0.22800	0.075	B	0.19946	0.027	T	0.49661	-0.8916	10	0.66056	D	0.02	.	9.2414	0.37498	0.1613:0.0:0.0:0.8387	.	213	Q5T447	HECD3_HUMAN	A	213	ENSP00000361245:T213A	ENSP00000361245:T213A	T	-	1	0	HECTD3	45248367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.275000	0.65575	1.918000	0.55548	0.533000	0.62120	ACA		0.567	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		21	85	0	0	0	0.049695	0	21	85				
GNAS	2778	broad.mit.edu	37	20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A	rs587778390		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(181-183)Gtc>Atc		GNAS complex locus							21.0	24.0	23.0					20																	57428501		1883	4116	5999	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428501G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.181G>A	20.37:g.57428501G>A	ENSP00000360141:p.Val61Ile	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron	p.V61I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	733	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.181G>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.343714	0.00222	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88431	-2.38;-2.38	4.42	-8.85	0.00799	.	.	.	.	.	T	0.70500	0.3231	N	0.03115	-0.41	0.42993	D	0.994497	B	0.02656	0.0	B	0.01281	0.0	T	0.51857	-0.8652	9	0.33940	T	0.23	.	12.2115	0.54381	0.2247:0.2022:0.5731:0.0	.	61	Q5JWF2	GNAS1_HUMAN	I	61	ENSP00000360141:V61I;ENSP00000360143:V61I	ENSP00000360140:V61I	V	+	1	0	GNAS	56861896	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-3.235000	0.00546	-3.510000	0.00150	-2.264000	0.00278	GTC		0.642	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		10	39	0	0	0	0.058154	0	10	39				
ATG16L1	55054	broad.mit.edu	37	2	234171780	234171780	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:234171780G>A	ENST00000392017.4	+	3	471	c.214G>A	c.(214-216)Gga>Aga	p.G72R	ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R|ATG16L1_ENST00000347464.5_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	72					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTTAGTCCCGGACATGATGG	0.438																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(214-216)Gga>Aga		autophagy related 16-like 1 (S. cerevisiae)							100.0	79.0	86.0					2																	234171780		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234171780G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.214G>A	2.37:g.234171780G>A	ENSP00000375872:p.Gly72Arg					ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R	p.G72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	3	471	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	72					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.214G>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020958	0.75275	.	.	ENSG00000085978	ENST00000392017;ENST00000417017;ENST00000392020;ENST00000392018	T;T;T	0.50813	0.75;0.74;0.73	5.17	5.17	0.71159	Autophagy-related protein 16 (1);	0.138379	0.48286	U	0.000191	T	0.65144	0.2663	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.63877	0.868;0.919	T	0.67639	-0.5619	10	0.72032	D	0.01	.	19.0551	0.93059	0.0:0.0:1.0:0.0	.	72;72	Q676U5-2;Q676U5	.;A16L1_HUMAN	R	72	ENSP00000375872:G72R;ENSP00000375875:G72R;ENSP00000375873:G72R	ENSP00000375872:G72R	G	+	1	0	ATG16L1	233836519	1.000000	0.71417	0.994000	0.49952	0.550000	0.35303	5.471000	0.66762	2.571000	0.86741	0.650000	0.86243	GGA		0.438	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		7	31	0	0	0	0.029380	0	7	31				
MAGEB10	139422	broad.mit.edu	37	X	27840150	27840150	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:27840150G>A	ENST00000356790.2	+	3	972	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	243	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CATGTTTGGGGAGCCCAGGAA	0.453																																						ENST00000356790.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(727-729)Gag>Aag		melanoma antigen family B, 10							49.0	47.0	48.0					X																	27840150		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27840150G>A		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.727G>A	X.37:g.27840150G>A	ENSP00000368304:p.Glu243Lys						p.E243K	NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN			3	972	+			243			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.727G>A	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386742	0.61956	.	.	ENSG00000177689	ENST00000356790	T	0.05139	3.49	2.62	1.75	0.24633	.	0.220156	0.35378	U	0.003255	T	0.21427	0.0516	M	0.90977	3.165	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	T	0.06734	-1.0810	10	0.87932	D	0	.	4.6722	0.12694	0.1892:0.0:0.8108:0.0	.	243	Q96LZ2	MAGBA_HUMAN	K	243	ENSP00000368304:E243K	ENSP00000368304:E243K	E	+	1	0	MAGEB10	27750071	0.352000	0.24895	0.004000	0.12327	0.426000	0.31534	1.716000	0.37981	0.503000	0.28060	0.422000	0.28245	GAG		0.453	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		6	54	0	0	0	0.021553	0	6	54				
AFAP1L2	84632	broad.mit.edu	37	10	116057015	116057015	+	Silent	SNP	G	G	A	rs150853765	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr10:116057015G>A	ENST00000304129.4	-	17	2300	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	AFAP1L2_ENST00000369271.3_Silent_p.T757T|AFAP1L2_ENST00000545353.1_Silent_p.T810T|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	757					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGGTGTCCACGGTGGTGCCTA	0.652																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(2269-2271)acC>acT		actin filament associated protein 1-like 2		G	,	12,4394	19.1+/-41.9	0,12,2191	53.0	45.0	48.0		2271,2271	-10.8	0.1	10	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFAP1L2	NM_001001936.1,NM_032550.2	,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,	757/819,757/815	116057015	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116057015G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.2271C>T	10.37:g.116057015G>A						AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.T810T|AFAP1L2_ENST00000304129.4_Silent_p.T757T	p.T757T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	17	2571	-		Colorectal(252;0.175)|Breast(234;0.231)	757					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.2271C>T	CCDS31286.1																																																																																				0.652	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		18	52	0	0	0	0.160694	0	18	52				
CYP11B1	1584	broad.mit.edu	37	8	143961145	143961145	+	Missense_Mutation	SNP	C	C	T	rs144224988		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:143961145C>T	ENST00000292427.4	-	1	117	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	CYP11B1_ENST00000377675.3_Missense_Mutation_p.A29T|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A29T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	29					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGGACCCGGGCGGCTCTCGTG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0	0.0014	5008	,	,		19092	0.0		0.0	False		,,,				2504	0.0					ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(85-87)Gcc>Acc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	74.0	73.0	74.0		85,85	-5.9	0.0	8	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	29/504,29/438	143961145	2,13004	2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961145C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.85G>A	8.37:g.143961145C>T	ENSP00000292427:p.Ala29Thr					CYP11B1_ENST00000377675.3_Missense_Mutation_p.A29T|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A29T	p.A29T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			1	117	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		29					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.85G>A	CCDS6392.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.122	-1.123964	0.01770	2.27E-4	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83335	-0.96;-1.71;-0.88	2.96	-5.93	0.02254	.	1.291600	0.06015	N	0.650210	T	0.63010	0.2475	L	0.28115	0.83	0.09310	N	1	B;B;B	0.23650	0.002;0.089;0.005	B;B;B	0.14578	0.002;0.011;0.002	T	0.54997	-0.8209	10	0.06757	T	0.87	.	3.6725	0.08279	0.3009:0.2772:0.0:0.4218	.	29;29;29	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	T	29	ENSP00000292427:A29T;ENSP00000428043:A29T;ENSP00000366903:A29T	ENSP00000292427:A29T	A	-	1	0	CYP11B1	143958147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.693000	0.00829	-2.222000	0.00727	-2.269000	0.00276	GCC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			42	218	0	0	0	0.111260	0	42	218				
ASRGL1	80150	broad.mit.edu	37	11	62159699	62159699	+	Silent	SNP	C	C	T	rs202153953	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:62159699C>T	ENST00000415229.2	+	7	1085	c.870C>T	c.(868-870)gaC>gaT	p.D290D	ASRGL1_ENST00000301776.5_Silent_p.D290D|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	290					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCGCCAAGGACGGCAAGCTGC	0.532											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0008	0.0	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.001					ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(868-870)gaC>gaT		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	C	,	1,4403	2.1+/-5.4	0,1,2201	102.0	88.0	93.0		870,870	-9.9	0.1	11		93	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ASRGL1	NM_001083926.1,NM_025080.3	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	290/309,290/309	62159699	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62159699C>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.870C>T	11.37:g.62159699C>T			OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1059	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Silent_p.D290D	p.D290D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			7	1085	+			290					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP	ENST00000415229.2	37	c.870C>T	CCDS8019.1																																																																																				0.532	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		79	84	0	0	0	0.139131	0	79	84				
FUCA2	2519	broad.mit.edu	37	6	143825112	143825112	+	Silent	SNP	G	G	A	rs377166178		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:143825112G>A	ENST00000002165.6	-	3	745	c.690C>T	c.(688-690)gaC>gaT	p.D230D	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	230					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTGCTCCTCCGTCACCATCCG	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		18397	0.0		0.0	False		,,,				2504	0.001					ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(688-690)gaC>gaT		fucosidase, alpha-L- 2, plasma		G		0,4406		0,0,2203	84.0	75.0	78.0		690	-11.2	0.0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FUCA2	NM_032020.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		230/468	143825112	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143825112G>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.690C>T	6.37:g.143825112G>A						FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	p.D230D	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	3	745	-			230					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	c.690C>T	CCDS5200.1																																																																																				0.463	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		15	35	0	0	0	0.132662	0	15	35				
GRAMD4	23151	broad.mit.edu	37	22	47062766	47062766	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:47062766C>G	ENST00000406902.1	+	10	1067	c.854C>G	c.(853-855)cCc>cGc	p.P285R	GRAMD4_ENST00000361034.3_Missense_Mutation_p.P285R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	285					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GTGTCTGAGCCCGTGGTAAGT	0.617																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(853-855)cCc>cGc		GRAM domain containing 4							219.0	177.0	191.0					22																	47062766		2203	4300	6503	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47062766C>G		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.854C>G	22.37:g.47062766C>G	ENSP00000385689:p.Pro285Arg					GRAMD4_ENST00000361034.3_Missense_Mutation_p.P285R	p.P285R			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	10	1067	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	285					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.854C>G	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	c	7.549	0.662311	0.14645	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.43294	0.95;0.95	4.79	-0.0774	0.13719	.	0.540186	0.18236	N	0.147404	T	0.26810	0.0656	L	0.36672	1.1	0.09310	N	1	P;B	0.38078	0.617;0.037	B;B	0.33521	0.165;0.016	T	0.11767	-1.0574	10	0.33141	T	0.24	-3.3225	9.2822	0.37735	0.0:0.6465:0.0:0.3535	.	107;285	B0QZ08;Q6IC98	.;GRAM4_HUMAN	R	285	ENSP00000385689:P285R;ENSP00000354313:P285R	ENSP00000354313:P285R	P	+	2	0	GRAMD4	45441430	0.321000	0.24625	0.017000	0.16124	0.127000	0.20565	1.944000	0.40263	0.134000	0.18681	0.555000	0.69702	CCC		0.617	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		3	151	0	0	0	0.115264	0	3	151				
SNRPB	6628	broad.mit.edu	37	20	2443804	2443804	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:2443804C>A	ENST00000438552.2	-	5	652	c.490G>T	c.(490-492)Gct>Tct	p.A164S	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000339610.6_Missense_Mutation_p.A85S|SNRPB_ENST00000381342.2_Missense_Mutation_p.A164S	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	164					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGTTGGAGCCCCGGCAATA	0.592																																						ENST00000339610.6																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(253-255)Gct>Tct		small nuclear ribonucleoprotein polypeptides B and B1							39.0	46.0	43.0					20																	2443804		2176	4265	6441	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr20:2443804C>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.490G>T	20.37:g.2443804C>A	ENSP00000412566:p.Ala164Ser					SNRPB_ENST00000381342.2_Missense_Mutation_p.A164S|SNRPB_ENST00000438552.2_Missense_Mutation_p.A164S	p.A85S			P14678	RSMB_HUMAN			6	708	-			164					Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.253G>T	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910890	0.92178	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.47528	0.84;0.86	6.17	6.17	0.99709	.	0.096799	0.64402	D	0.000001	T	0.60573	0.2279	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.58970	0.984;0.984;0.984;0.984	D;D;D;D	0.65443	0.935;0.935;0.935;0.935	T	0.59857	-0.7375	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	85;164;164;164	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	S	164;164;164;85	ENSP00000370746:A164S;ENSP00000412566:A164S	ENSP00000303591:A164S	A	-	1	0	SNRPB	2391804	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	7.301000	0.78850	2.941000	0.99782	0.655000	0.94253	GCT		0.592	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			66	154	1	0	1.59627e-33	0.139131	1.85227e-33	66	154				
PCDHAC2	56134	broad.mit.edu	37	5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140347507G>A	ENST00000289269.5	+	1	1688	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1156-1158)Gtt>Att									87.0	77.0	80.0					5																	140347507		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347507G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1156G>A	5.37:g.140347507G>A	ENSP00000289269:p.Val386Ile					PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.V386I	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1688	+			386			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1156G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032404	0.19590	.	.	ENSG00000243232	ENST00000289269	T	0.52526	0.66	5.61	0.00759	0.14071	Cadherin (3);Cadherin-like (1);	0.648092	0.12765	N	0.441059	T	0.26557	0.0649	N	0.17922	0.545	0.09310	N	0.999999	P;B	0.38370	0.628;0.004	B;B	0.31686	0.134;0.003	T	0.10314	-1.0635	10	0.66056	D	0.02	.	7.6778	0.28497	0.0:0.4911:0.2225:0.2864	.	386;386	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	386	ENSP00000289269:V386I	ENSP00000289269:V386I	V	+	1	0	PCDHAC2	140327691	0.000000	0.05858	0.895000	0.35142	0.830000	0.47004	-0.096000	0.11059	0.046000	0.15833	-0.165000	0.13383	GTT		0.557	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		4	139	0	0	0	0.150653	0	4	139				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		5	19	1	0	1.23904e-05	0.014758	1.39818e-05	5	19				
NOTCH1	4851	broad.mit.edu	37	9	139412263	139412263	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:139412263C>T	ENST00000277541.6	-	8	1457	c.1382G>A	c.(1381-1383)tGc>tAc	p.C461Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	461	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGTTCTGGCACGGGTTCGA	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1381-1383)tGc>tAc		notch 1							58.0	66.0	63.0					9																	139412263		2166	4249	6415	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412263C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1382G>A	9.37:g.139412263C>T	ENSP00000277541:p.Cys461Tyr	HNSCC(8;0.001)					p.C461Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1457	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	461			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1382G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215591	0.79352	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99935	4.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	461	P46531	NOTC1_HUMAN	Y	461	ENSP00000277541:C461Y	ENSP00000277541:C461Y	C	-	2	0	NOTCH1	138532084	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	5.872000	0.69636	2.088000	0.63022	0.462000	0.41574	TGC		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		52	27	0	0	0	0.139131	0	52	27				
DOCK5	80005	broad.mit.edu	37	8	25159858	25159858	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:25159858C>T	ENST00000276440.7	+	10	908	c.864C>T	c.(862-864)gaC>gaT	p.D288D	DOCK5_ENST00000481100.1_Silent_p.D288D	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	288					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGCATGGACCTCATCCGGC	0.557																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(862-864)gaC>gaT		dedicator of cytokinesis 5							105.0	85.0	92.0					8																	25159858		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25159858C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.864C>T	8.37:g.25159858C>T						DOCK5_ENST00000481100.1_Silent_p.D288D	p.D288D	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	10	908	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	288					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.864C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250293	0.22880	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.4	4.52	0.55395	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57154	-0.7860	4	.	.	.	.	8.8438	0.35157	0.0:0.7679:0.0:0.2321	.	.	.	.	S	60	.	.	P	+	1	0	DOCK5	25215775	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.124000	0.42006	1.291000	0.44653	0.650000	0.86243	CCT		0.557	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		24	27	0	0	0	0.116897	0	24	27				
BTNL2	56244	broad.mit.edu	37	6	32372831	32372831	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:32372831C>G	ENST00000374993.1	-	2	311	c.312G>C	c.(310-312)aaG>aaC	p.K104N	BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.K104N|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.K104N|BTNL2_ENST00000454136.3_Missense_Mutation_p.K104N	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	104	Ig-like V-type 1.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCACATTTCCCTTTGCAATGC	0.507																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(310-312)aaG>aaC		butyrophilin-like 2 (MHC class II associated)							341.0	293.0	310.0					6																	32372831		1511	2709	4220	SO:0001583	missense	56244					integral to membrane		g.chr6:32372831C>G	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.312G>C	6.37:g.32372831C>G	ENSP00000364132:p.Lys104Asn					BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.K104N|BTNL2_ENST00000429232.2_Missense_Mutation_p.K104N|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.K104N	p.K104N			Q9UIR0	BTNL2_HUMAN			2	316	-			104			Ig-like V-type 1.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.312G>C		.	.	.	.	.	.	.	.	.	.	C	8.401	0.841936	0.16963	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232;ENST00000446536	T;T;T;T	0.66460	-0.21;-0.21;-0.21;4.2	4.91	-0.238	0.13055	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.797224	0.10963	N	0.614747	T	0.20210	0.0486	N	0.10685	0.025	0.19300	N	0.999974	P	0.39717	0.684	B	0.37780	0.258	T	0.14337	-1.0476	10	0.72032	D	0.01	.	2.1925	0.03903	0.2666:0.4491:0.1303:0.154	.	104	Q9UIR0	BTNL2_HUMAN	N	104;104;104;104;103	ENSP00000364134:K104N;ENSP00000364132:K104N;ENSP00000411166:K104N;ENSP00000388434:K103N	ENSP00000364132:K104N	K	-	3	2	BTNL2	32480809	0.004000	0.15560	0.046000	0.18839	0.006000	0.05464	-0.411000	0.07142	-0.128000	0.11641	-0.194000	0.12790	AAG		0.507	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		55	95	0	0	0	0.139131	0	55	95				
TTN	7273	broad.mit.edu	37	2	179582457	179582457	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:179582457G>A	ENST00000591111.1	-	85	24417	c.24193C>T	c.(24193-24195)Cgc>Tgc	p.R8065C	TTN_ENST00000589042.1_Missense_Mutation_p.R8382C|TTN_ENST00000342992.6_Missense_Mutation_p.R7138C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12255	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTGATGCGGCATTCAAAT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25144-25146)Cgc>Tgc		titin							41.0	39.0	40.0					2																	179582457		1851	4104	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582457G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24193C>T	2.37:g.179582457G>A	ENSP00000465570:p.Arg8065Cys					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8065C|TTN_ENST00000342992.6_Missense_Mutation_p.R7138C|TTN_ENST00000342175.6_Intron	p.R8382C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25368	-			8065			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25144C>T		.	.	.	.	.	.	.	.	.	.	G	10.09	1.254919	0.22965	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72914	0.3520	M	0.86573	2.825	0.80722	D	1	B	0.30511	0.282	B	0.19391	0.025	T	0.74423	-0.3670	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	8065	Q8WZ42	TITIN_HUMAN	C	7138	ENSP00000343764:R7138C	ENSP00000343764:R7138C	R	-	1	0	TTN	179290702	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.559000	0.67326	2.941000	0.99782	0.655000	0.94253	CGC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	46	0	0	0	0.021553	0	6	46				
CROT	54677	broad.mit.edu	37	7	87027901	87027901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:87027901C>T	ENST00000331536.3	+	18	1965	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	CROT_ENST00000419147.2_Nonsense_Mutation_p.Q622*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	594					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAAGCTAGTTCAGCTGACTTT	0.373																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1780-1782)Cag>Tag		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						137.0	124.0	129.0					7																	87027901		2203	4300	6503	SO:0001587	stop_gained	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87027901C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1780C>T	7.37:g.87027901C>T	ENSP00000331981:p.Gln594*					CROT_ENST00000419147.2_Nonsense_Mutation_p.Q622*	p.Q594*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			18	1965	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		594					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonsense_Mutation	SNP	ENST00000331536.3	37	c.1780C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201500	0.58234	.	.	ENSG00000005469	ENST00000419147;ENST00000331536	.	.	.	6.07	0.323	0.15893	.	0.744085	0.13830	N	0.359804	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.4853	9.3363	0.38051	0.3217:0.4127:0.2657:0.0	.	.	.	.	X	622;594	.	ENSP00000331981:Q594X	Q	+	1	0	CROT	86865837	0.006000	0.16342	0.001000	0.08648	0.094000	0.18550	0.958000	0.29227	0.104000	0.17725	0.655000	0.94253	CAG		0.373	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		20	70	0	0	0	0.043863	0	20	70				
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612																																						ENST00000400384.2																			1	Substitution - Missense(1)	p.V104I(1)	lung(1)	lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(310-312)Gtc>Atc		mitogen-activated protein kinase 4							78.0	79.0	79.0					18																	48190638		2199	4295	6494	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190638G>A	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.310G>A	18.37:g.48190638G>A	ENSP00000383234:p.Val104Ile					MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I	p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1346	+		Colorectal(6;0.0297)	104			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.310G>A	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716184	0.48622	.	.	ENSG00000141639	ENST00000400384	T	0.67523	-0.27	5.87	1.09	0.20402	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184523	0.36234	N	0.002712	T	0.55847	0.1946	L	0.43646	1.37	0.45066	D	0.998089	B;B	0.21821	0.061;0.061	B;B	0.26693	0.072;0.072	T	0.46582	-0.9181	10	0.45353	T	0.12	-3.6853	9.7936	0.40722	0.4235:0.0:0.5765:0.0	.	104;104	Q0VG04;P31152	.;MK04_HUMAN	I	104	ENSP00000383234:V104I	ENSP00000383234:V104I	V	+	1	0	MAPK4	46444636	0.972000	0.33761	0.987000	0.45799	0.985000	0.73830	1.677000	0.37576	-0.080000	0.12685	-0.254000	0.11334	GTC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		26	105	0	0	0	0.134883	0	26	105				
CTTN	2017	broad.mit.edu	37	11	70260656	70260656	+	Silent	SNP	C	C	T	rs574999868		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:70260656C>T	ENST00000301843.8	+	6	506	c.300C>T	c.(298-300)gtC>gtT	p.V100V	CTTN_ENST00000376561.3_Silent_p.V100V|CTTN_ENST00000346329.3_Silent_p.V100V	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	100					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGTCAGCTGTCGGCCACGAAT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19438	0.0		0.0	False		,,,				2504	0.001					ENST00000301843.8																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(298-300)gtC>gtT		cortactin							139.0	119.0	126.0					11																	70260656		2200	4294	6494	SO:0001819	synonymous_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70260656C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.300C>T	11.37:g.70260656C>T						CTTN_ENST00000376561.3_Silent_p.V100V|CTTN_ENST00000346329.3_Silent_p.V100V	p.V100V	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	6	506	+			100					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.300C>T	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077369	0.20227	.	.	ENSG00000085733	ENST00000415461	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59506	-0.7442	4	.	.	.	-47.4466	9.9936	0.41885	0.0:0.4904:0.3118:0.1979	.	.	.	.	L	82	.	.	S	+	2	0	CTTN	69938304	0.023000	0.18921	0.193000	0.23327	0.839000	0.47603	-1.082000	0.03400	-2.049000	0.00906	-0.812000	0.03155	TCG		0.557	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		17	89	0	0	0	0.160694	0	17	89				
FOXN1	8456	broad.mit.edu	37	17	26851658	26851658	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:26851658C>T	ENST00000226247.2	+	2	290	c.261C>T	c.(259-261)ggC>ggT	p.G87G	FOXN1_ENST00000579795.1_Silent_p.G87G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	87					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCGGCCCCGGCCCTGGGCCCT	0.682																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(259-261)ggC>ggT		forkhead box N1							24.0	27.0	26.0					17																	26851658		2200	4300	6500	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851658C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.261C>T	17.37:g.26851658C>T						FOXN1_ENST00000579795.1_Silent_p.G87G	p.G87G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	290	+	Lung NSC(42;0.00431)		87					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.261C>T	CCDS11232.1																																																																																				0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			18	93	0	0	0	0.055883	0	18	93				
ACOXL	55289	broad.mit.edu	37	2	111666365	111666365	+	Splice_Site	SNP	G	G	A	rs2974746		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:111666365G>A	ENST00000389811.4	+	11	1012		c.e11-1		ACOXL_ENST00000439055.1_Splice_Site			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATTCCCTCTAGCCGGAGGCAG	0.522																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.e11-1		acyl-CoA oxidase-like							83.0	82.0	82.0					2																	111666365		2203	4300	6503	SO:0001630	splice_region_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111666365G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.789-1G>A	2.37:g.111666365G>A						ACOXL_ENST00000439055.1_Splice_Site				Q9NUZ1	ACOXL_HUMAN			11	1012	+								A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Splice_Site	SNP	ENST00000389811.4	37			.	.	.	.	.	.	.	.	.	.	g	11.54	1.669577	0.29693	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0734	0.80951	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACOXL	111382836	1.000000	0.71417	0.992000	0.48379	0.089000	0.18198	6.083000	0.71326	2.380000	0.81148	0.558000	0.71614	.		0.522	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	Intron	23	79	0	0	0	0.062417	0	23	79				
CLUH	23277	broad.mit.edu	37	17	2604101	2604101	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:2604101G>A	ENST00000570628.2	-	8	1035	c.930C>T	c.(928-930)ttC>ttT	p.F310F	CLUH_ENST00000538975.1_Silent_p.F310F|CLUH_ENST00000435359.1_Silent_p.F310F			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	310					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGATCCTCTCGAACGGGTGGC	0.682																																						ENST00000570628.1																			0											c.(928-930)ttC>ttT		clustered mitochondria (cluA/CLU1) homolog							30.0	34.0	33.0					17																	2604101		2114	4207	6321	SO:0001819	synonymous_variant	23277							g.chr17:2604101G>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.930C>T	17.37:g.2604101G>A						CLUH_ENST00000435359.1_Silent_p.F310F|CLUH_ENST00000575014.1_Silent_p.F242F|CLUH_ENST00000538975.1_Silent_p.F310F	p.F310F							8	1035	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.930C>T	CCDS45572.1																																																																																				0.682	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		16	42	0	0	0	0.043863	0	16	42				
BMP2K	55589	broad.mit.edu	37	4	79792071	79792071	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr4:79792071C>T	ENST00000335016.5	+	11	1532	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	BMP2K_ENST00000502871.1_Missense_Mutation_p.R456C	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	456	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTACAGCATCGTCATCCTCA	0.567																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1366-1368)Cgt>Tgt		BMP2 inducible kinase							65.0	66.0	66.0					4																	79792071		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792071C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1366C>T	4.37:g.79792071C>T	ENSP00000334836:p.Arg456Cys					BMP2K_ENST00000502871.1_Missense_Mutation_p.R456C	p.R456C	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1532	+			456			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1366C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.730317|1.730317	0.30684|0.30684	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889|ENST00000502613	T;T|.	0.72725|.	1.9;-0.68|.	5.12|5.12	4.27|4.27	0.50696|0.50696	.|.	5.861750|.	0.00397|.	N|.	0.000048|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	D;D|.	0.60575|.	0.988;0.978|.	B;B|.	0.41299|.	0.353;0.353|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.56958|.	D|.	0.05|.	-1.6733|-1.6733	11.0423|11.0423	0.47838|0.47838	0.1858:0.8142:0.0:0.0|0.1858:0.8142:0.0:0.0	.|.	456;456|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	C|L	456;456;470|148	ENSP00000421768:R456C;ENSP00000334836:R456C|.	ENSP00000264889:R470C|.	R|S	+|+	1|2	0|0	BMP2K|BMP2K	80011095|80011095	0.983000|0.983000	0.35010|0.35010	0.002000|0.002000	0.10522|0.10522	0.016000|0.016000	0.09150|0.09150	1.545000|1.545000	0.36169|0.36169	1.141000|1.141000	0.42275|0.42275	0.460000|0.460000	0.39030|0.39030	CGT|TCG		0.567	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	35	0	0	0	0.150653	0	4	35				
MAGI3	260425	broad.mit.edu	37	1	114092242	114092242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:114092242G>A	ENST00000307546.9	+	2	497	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MAGI3_ENST00000369611.4_Missense_Mutation_p.R141K|MAGI3_ENST00000369617.4_Missense_Mutation_p.R141K|MAGI3_ENST00000369615.1_Missense_Mutation_p.R141K|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	141	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTACTTGAGAACCATTCCA	0.338																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(421-423)aGa>aAa		membrane associated guanylate kinase, WW and PDZ domain containing 3							87.0	82.0	84.0					1																	114092242		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114092242G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.422G>A	1.37:g.114092242G>A	ENSP00000304604:p.Arg141Lys					MAGI3_ENST00000307546.9_Missense_Mutation_p.R141K|MAGI3_ENST00000369611.4_Missense_Mutation_p.R141K|MAGI3_ENST00000369617.4_Missense_Mutation_p.R141K|MAGI3_ENST00000486456.1_3'UTR	p.R141K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	484	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	141			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.422G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287064	0.80803	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.42529	1.33	0.80722	D	1	P;B;B	0.34955	0.477;0.126;0.105	B;B;B	0.40038	0.317;0.198;0.076	T	0.10567	-1.0624	10	0.45353	T	0.12	-22.3531	20.3495	0.98807	0.0:0.0:1.0:0.0	.	141;141;141	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	K	141	ENSP00000358630:R141K;ENSP00000304604:R141K;ENSP00000358628:R141K;ENSP00000358624:R141K	ENSP00000304604:R141K	R	+	2	0	MAGI3	113893765	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.788000	0.99064	2.814000	0.96858	0.591000	0.81541	AGA		0.338	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	78	0	0	0	0.150653	0	4	78				
GPATCH2	55105	broad.mit.edu	37	1	217665079	217665079	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:217665079C>T	ENST00000366935.3	-	8	1330	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	GPATCH2_ENST00000489246.2_5'UTR|RP11-361K17.2_ENST00000458184.1_RNA	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	407					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCGATTATCTCTCAGAAGCTG	0.313																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(1219-1221)aGa>aAa		G patch domain containing 2							97.0	96.0	96.0					1																	217665079		2202	4300	6502	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217665079C>T	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1220G>A	1.37:g.217665079C>T	ENSP00000355902:p.Arg407Lys					GPATCH2_ENST00000489246.2_5'UTR	p.R407K	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	8	1330	-			407					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1220G>A	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771328	0.31320	.	.	ENSG00000092978	ENST00000366935	T	0.30182	1.54	6.03	6.03	0.97812	.	0.050662	0.85682	D	0.000000	T	0.24084	0.0583	L	0.27053	0.805	0.80722	D	1	P	0.50066	0.931	B	0.42462	0.388	T	0.02301	-1.1180	10	0.12103	T	0.63	-1.0079	17.2761	0.87115	0.0:1.0:0.0:0.0	.	407	Q9NW75	GPTC2_HUMAN	K	407	ENSP00000355902:R407K	ENSP00000355902:R407K	R	-	2	0	GPATCH2	215731702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.902000	0.63266	2.861000	0.98227	0.655000	0.94253	AGA		0.313	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		16	84	0	0	0	0.175082	0	16	84				
GHSR	2693	broad.mit.edu	37	3	172165615	172165615	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:172165615C>T	ENST00000241256.2	-	1	631	c.589G>A	c.(589-591)Gag>Aag	p.E197K	GHSR_ENST00000427970.1_Missense_Mutation_p.E197K	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	197					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGGCGGCACTCGTTGGTGTCC	0.622																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(589-591)Gag>Aag		growth hormone secretagogue receptor							46.0	38.0	41.0					3																	172165615		2203	4299	6502	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165615C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.589G>A	3.37:g.172165615C>T	ENSP00000241256:p.Glu197Lys					GHSR_ENST00000427970.1_Missense_Mutation_p.E197K	p.E197K	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	631	-	Ovarian(172;0.00143)|Breast(254;0.197)		197					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.589G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320582	0.95682	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.36878	1.23;1.23	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.100522	0.64402	D	0.000002	T	0.58221	0.2107	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.924	T	0.51687	-0.8674	10	0.09084	T	0.74	-22.4583	19.5728	0.95428	0.0:1.0:0.0:0.0	.	197;197	Q92847-2;Q92847	.;GHSR_HUMAN	K	197	ENSP00000241256:E197K;ENSP00000395344:E197K	ENSP00000241256:E197K	E	-	1	0	GHSR	173648309	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	2.636000	0.89361	0.455000	0.32223	GAG		0.622	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		17	76	0	0	0	0.043863	0	17	76				
MROH2B	133558	broad.mit.edu	37	5	41008798	41008798	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:41008798G>A	ENST00000399564.4	-	33	3968	c.3518C>T	c.(3517-3519)aCa>aTa	p.T1173I	MROH2B_ENST00000506092.2_Missense_Mutation_p.T728I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1173																	CTGGCCCAGTGTGCAGCTAAC	0.567																																						ENST00000399564.4																			0											c.(3517-3519)aCa>aTa		maestro heat-like repeat family member 2B							75.0	76.0	76.0					5																	41008798		2038	4210	6248	SO:0001583	missense	133558							g.chr5:41008798G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3518C>T	5.37:g.41008798G>A	ENSP00000382476:p.Thr1173Ile					MROH2B_ENST00000506092.2_Missense_Mutation_p.T728I	p.T1173I	NM_173489.4	NP_775760.3					33	3968	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3518C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809071	0.50421	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01406	4.93;5.18	5.97	4.16	0.48862	Armadillo-type fold (1);	0.191575	0.37012	N	0.002292	T	0.01661	0.0053	M	0.65975	2.015	0.25202	N	0.990048	P	0.42409	0.779	B	0.32805	0.153	T	0.47787	-0.9090	10	0.18710	T	0.47	.	8.2197	0.31534	0.0831:0.1571:0.7597:0.0	.	1173	Q7Z745	HTRB2_HUMAN	I	728;878;1173	ENSP00000441504:T728I;ENSP00000382476:T1173I	ENSP00000296803:T878I	T	-	2	0	HEATR7B2	41044555	0.994000	0.37717	0.596000	0.28811	0.901000	0.52897	2.947000	0.49058	0.823000	0.34589	0.561000	0.74099	ACA		0.567	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		25	55	0	0	0	0.076483	0	25	55				
SCN5A	6331	broad.mit.edu	37	3	38647495	38647495	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:38647495C>T	ENST00000333535.4	-	10	1434	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	SCN5A_ENST00000451551.2_Missense_Mutation_p.E429K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E429K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E429K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E429K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E429K|SCN5A_ENST00000413689.1_Missense_Mutation_p.E429K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E429K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E429K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E429K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	429					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTTTCCTTCTCCTCGGTCTCA	0.567																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1285-1287)Gag>Aag		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						82.0	90.0	87.0					3																	38647495		2071	4188	6259	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38647495C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1285G>A	3.37:g.38647495C>T	ENSP00000328968:p.Glu429Lys					SCN5A_ENST00000414099.2_Missense_Mutation_p.E429K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E429K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E429K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E429K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E429K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E429K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E429K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E429K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E429K	p.E429K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1478	-	Medulloblastoma(35;0.163)		429					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1285G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736307	0.89482	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96334	-3.91;-3.92;-3.93;-3.93;-3.92;-3.91;-3.92;-3.98;-3.93;-3.92	5.54	5.54	0.83059	.	0.118551	0.64402	D	0.000019	D	0.95921	0.8672	N	0.25245	0.725	0.43693	D	0.996143	B;D;P;B;B;D;B	0.67145	0.278;0.996;0.655;0.278;0.278;0.982;0.4	B;P;B;B;B;P;B	0.60415	0.057;0.874;0.173;0.057;0.057;0.763;0.121	D	0.95453	0.8536	10	0.41790	T	0.15	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	429;429;429;429;429;429;429	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	K	429	ENSP00000398962:E429K;ENSP00000398266:E429K;ENSP00000410257:E429K;ENSP00000388797:E429K;ENSP00000397915:E429K;ENSP00000416634:E429K;ENSP00000328968:E429K;ENSP00000399524:E429K;ENSP00000403355:E429K;ENSP00000413996:E429K	ENSP00000328968:E429K	E	-	1	0	SCN5A	38622499	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.077000	0.41557	2.884000	0.98904	0.655000	0.94253	GAG		0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	143	0	0	0	0.014758	0	4	143				
KCNJ16	3773	broad.mit.edu	37	17	68129405	68129405	+	Missense_Mutation	SNP	G	G	A	rs375371610		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:68129405G>A	ENST00000589377.1	+	2	1340	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	KCNJ16_ENST00000585558.1_Missense_Mutation_p.A428T|KCNJ16_ENST00000283936.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000586462.1_Missense_Mutation_p.A432T|KCNJ16_ENST00000392671.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000392670.1_Missense_Mutation_p.A393T	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	393					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CACCACTTCCGCCACACATGA	0.458																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(1282-1284)Gcc>Acc		potassium inwardly-rectifying channel, subfamily J, member 16		G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	87.0	77.0	80.0		1177,1177,1177	1.1	0.0	17		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	393/419,393/419,393/419	68129405	1,13005	2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129405G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1177G>A	17.37:g.68129405G>A	ENSP00000465967:p.Ala393Thr					KCNJ16_ENST00000392671.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000392670.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000283936.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000586462.1_Missense_Mutation_p.A432T|KCNJ16_ENST00000589377.1_Missense_Mutation_p.A393T	p.A428T			Q9NPI9	IRK16_HUMAN			4	1670	+	Breast(10;2.96e-09)		393						Missense_Mutation	SNP	ENST00000589377.1	37	c.1282G>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	1.727	-0.495158	0.04322	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88586	-2.4;-2.4;-2.4	5.8	1.14	0.20703	.	0.866389	0.09768	N	0.758365	T	0.73636	0.3612	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57877	-0.7735	9	.	.	.	.	1.723	0.02915	0.2824:0.141:0.4324:0.1442	.	393;393	A8K434;Q9NPI9	.;IRK16_HUMAN	T	393	ENSP00000283936:A393T;ENSP00000376439:A393T;ENSP00000376438:A393T	.	A	+	1	0	KCNJ16	65641000	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.222000	0.09190	0.362000	0.24319	0.591000	0.81541	GCC		0.458	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		23	107	0	0	0	0.062417	0	23	107				
SALL3	27164	broad.mit.edu	37	18	76753935	76753935	+	Silent	SNP	G	G	A	rs373055868		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:76753935G>A	ENST00000537592.2	+	2	1944	c.1944G>A	c.(1942-1944)ccG>ccA	p.P648P	SALL3_ENST00000536229.3_Silent_p.P515P|SALL3_ENST00000575389.2_Silent_p.P648P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	648					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P648P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAGTTTCCGTTCGGGGGGC	0.652																																						ENST00000536229.3																			1	Substitution - coding silent(1)	p.P648P(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1543-1545)ccG>ccA		spalt-like transcription factor 3							21.0	21.0	21.0					18																	76753935		2200	4296	6496	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753935G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1944G>A	18.37:g.76753935G>A						SALL3_ENST00000575389.2_Silent_p.P648P|SALL3_ENST00000537592.2_Silent_p.P648P	p.P515P			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2254	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	648					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1545G>A	CCDS12013.1																																																																																				0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	15	0	0	0	0.115264	0	3	15				
PCDHA11	56138	broad.mit.edu	37	5	140248820	140248820	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140248820C>T	ENST00000398640.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.652																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(130-132)ttC>ttT									58.0	69.0	65.0					5																	140248820		2203	4300	6503	SO:0001819	synonymous_variant	56138							g.chr5:140248820C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.132C>T	5.37:g.140248820C>T						PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.F44F	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	132	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.132C>T	CCDS47284.1																																																																																				0.652	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		47	138	0	0	0	0.139131	0	47	138				
PCDHGB1	56104	broad.mit.edu	37	5	140731948	140731948	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140731948C>T	ENST00000523390.1	+	1	2121	c.2121C>T	c.(2119-2121)atC>atT	p.I707I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	707					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGCGATCGCCCTGCGCC	0.617																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2119-2121)atC>atT									114.0	123.0	120.0					5																	140731948		2078	4197	6275	SO:0001819	synonymous_variant	56104							g.chr5:140731948C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2121C>T	5.37:g.140731948C>T						PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.I707I	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2121	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.2121C>T	CCDS54923.1																																																																																				0.617	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		61	214	0	0	0	0.139131	0	61	214				
KIF21B	23046	broad.mit.edu	37	1	200950187	200950187	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:200950187G>A	ENST00000422435.2	-	29	4196	c.3880C>T	c.(3880-3882)Cgg>Tgg	p.R1294W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1294W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1281W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1281W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1294					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGGCCGTCCGTGCACCCTTG	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3841-3843)Cgg>Tgg		kinesin family member 21B							86.0	73.0	78.0					1																	200950187		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200950187G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3880C>T	1.37:g.200950187G>A	ENSP00000411831:p.Arg1294Trp					KIF21B_ENST00000461742.2_Missense_Mutation_p.R1294W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1281W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1294W	p.R1281W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			28	4157	-			1294					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3841C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444092	0.63067	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73789	-0.45;-0.76;-0.78;-0.47	5.7	1.52	0.23074	.	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.63843	1.955	0.39635	D	0.970239	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.993;0.997	D	0.84672	0.0712	10	0.87932	D	0	.	15.6861	0.77411	0.0:0.0:0.3743:0.6256	.	1281;1294;1294;1281	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	1281;1281;1294;1294;1294	ENSP00000328494:R1281W;ENSP00000353724:R1281W;ENSP00000433808:R1294W;ENSP00000411831:R1294W	ENSP00000328494:R1281W	R	-	1	2	KIF21B	199216810	0.522000	0.26266	0.042000	0.18584	0.821000	0.46438	0.788000	0.26872	0.025000	0.15241	0.650000	0.86243	CGG		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		52	64	0	0	0	0.139131	0	52	64				
SLC6A15	55117	broad.mit.edu	37	12	85266897	85266897	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:85266897C>T	ENST00000266682.5	-	7	1619	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SLC6A15_ENST00000309283.7_Missense_Mutation_p.A68T|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A253T|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	360					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATGACATTTGCTTTGAAGCCC	0.343																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1078-1080)Gca>Aca		solute carrier family 6 (neutral amino acid transporter), member 15							109.0	106.0	107.0					12																	85266897		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266897C>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1078G>A	12.37:g.85266897C>T	ENSP00000266682:p.Ala360Thr					SLC6A15_ENST00000309283.7_Missense_Mutation_p.A68T|SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A253T	p.A360T	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			7	1619	-			360					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1078G>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582653	0.96578	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.80566	-1.39;-1.39;-1.39	5.72	5.72	0.89469	.	0.045822	0.85682	D	0.000000	D	0.92786	0.7706	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.99	D	0.93997	0.7272	10	0.87932	D	0	.	19.8731	0.96858	0.0:1.0:0.0:0.0	.	68;360	F8WJN6;Q9H2J7	.;S6A15_HUMAN	T	68;360;76;253;68	ENSP00000311645:A68T;ENSP00000266682:A360T;ENSP00000450145:A253T	ENSP00000266682:A360T	A	-	1	0	SLC6A15	83791028	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.487000	0.81328	2.690000	0.91761	0.591000	0.81541	GCA		0.343	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		13	72	0	0	0	0.119110	0	13	72				
TXNRD1	7296	broad.mit.edu	37	12	104719127	104719127	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:104719127G>A	ENST00000529546.1	+	8	889	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	TXNRD1_ENST00000524698.1_Missense_Mutation_p.E260K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E410K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E359K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E312K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E310K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E260K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E410K|TXNRD1_ENST00000526691.1_Missense_Mutation_p.E312K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E304K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E304K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E375K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E329K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E260K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	410					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGAACAAATTGAAGCAGGGAC	0.418																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(934-936)Gaa>Aaa		thioredoxin reductase 1							55.0	52.0	53.0					12																	104719127		1880	4118	5998	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104719127G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.664G>A	12.37:g.104719127G>A	ENSP00000434919:p.Glu222Lys					TXNRD1_ENST00000542918.1_Missense_Mutation_p.E310K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000529546.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E329K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E304K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E410K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E260K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E260K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E410K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E375K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E304K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E312K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E359K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E260K	p.E312K	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			9	1390	+			410					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.934G>A	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432703	0.62844	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;0.37;0.37;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.56	4.67	0.58626	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.044623	0.85682	D	0.000000	T	0.68229	0.2978	M	0.80982	2.52	0.58432	D	0.999993	B;B;B;B;B;B;B	0.20887	0.015;0.015;0.049;0.003;0.002;0.026;0.003	B;B;B;B;B;B;B	0.26416	0.035;0.035;0.069;0.012;0.012;0.034;0.013	T	0.68247	-0.5459	10	0.48119	T	0.1	-34.7746	12.0224	0.53350	0.1358:0.0:0.8642:0.0	.	310;304;410;312;260;410;375	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	K	410;410;260;312;312;260;304;222;222;260;310;359;304;375;329	ENSP00000434516:E410K;ENSP00000412045:E410K;ENSP00000421934:E260K;ENSP00000435929:E312K;ENSP00000373506:E312K;ENSP00000347020:E260K;ENSP00000435123:E304K;ENSP00000434919:E222K;ENSP00000442709:E222K;ENSP00000433425:E260K;ENSP00000440978:E310K;ENSP00000367310:E359K;ENSP00000380844:E304K;ENSP00000393328:E375K;ENSP00000432812:E329K	ENSP00000347020:E260K	E	+	1	0	TXNRD1	103243257	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.800000	0.47900	2.634000	0.89283	0.632000	0.83419	GAA		0.418	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		5	23	0	0	0	0.014758	0	5	23				
ACR	49	broad.mit.edu	37	22	51183225	51183225	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:51183225G>A	ENST00000216139.5	+	5	896	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	286	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGATCGCCTCCAAGAT	0.622																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(856-858)Gcc>Acc		acrosin							18.0	18.0	18.0					22																	51183225		2195	4271	6466	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51183225G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.856G>A	22.37:g.51183225G>A	ENSP00000216139:p.Ala286Thr					ACR_ENST00000527761.1_3'UTR	p.A286T	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	5	896	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	286			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.856G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659600	0.47467	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	3.88	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.183072	0.26711	N	0.022891	T	0.46870	0.1415	N	0.05592	-0.015	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.40021	-0.9585	10	0.13108	T	0.6	-4.4611	5.62	0.17451	0.1577:0.0:0.8423:0.0	.	286	P10323	ACRO_HUMAN	T	286	ENSP00000216139:A286T	ENSP00000216139:A286T	A	+	1	0	ACR	49530091	0.133000	0.22466	1.000000	0.80357	0.412000	0.31113	1.275000	0.33144	1.997000	0.58415	0.305000	0.20034	GCC		0.622	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		9	12	0	0	0	0.058154	0	9	12				
PGS1	9489	broad.mit.edu	37	17	76388715	76388715	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:76388715C>T	ENST00000262764.6	+	2	328	c.302C>T	c.(301-303)tCt>tTt	p.S101F	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	101					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGGGTGCTTTCTTCCCCGGCA	0.502																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(301-303)tCt>tTt		phosphatidylglycerophosphate synthase 1							80.0	82.0	82.0					17																	76388715		1881	4116	5997	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76388715C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.302C>T	17.37:g.76388715C>T	ENSP00000262764:p.Ser101Phe					PGS1_ENST00000329897.7_5'UTR	p.S101F	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		2	328	+			101					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.302C>T	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514219	0.64522	.	.	ENSG00000087157	ENST00000262764	T	0.21543	2.0	5.38	5.38	0.77491	.	0.218239	0.40222	N	0.001155	T	0.26774	0.0655	L	0.46157	1.445	0.80722	D	1	P	0.51653	0.947	P	0.44597	0.454	T	0.01909	-1.1249	10	0.56958	D	0.05	-24.8173	19.1251	0.93380	0.0:1.0:0.0:0.0	.	101	Q32NB8	PGPS1_HUMAN	F	101	ENSP00000262764:S101F	ENSP00000262764:S101F	S	+	2	0	PGS1	73900310	0.538000	0.26394	0.798000	0.32154	0.862000	0.49288	2.872000	0.48467	2.524000	0.85096	0.591000	0.81541	TCT		0.502	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		27	141	0	0	0	0.153744	0	27	141				
NFATC1	4772	broad.mit.edu	37	18	77246917	77246917	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:77246917A>G	ENST00000427363.2	+	9	2762	c.2762A>G	c.(2761-2763)gAc>gGc	p.D921G	NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.D449G|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.D908G			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	921	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GAAGAGTTGGACCAGTTGTAC	0.637																																					GBM(151;1210 2593 28719 45011)	ENST00000329101.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2722-2724)gAc>gGc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							51.0	44.0	46.0					18																	77246917		2090	4115	6205	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246917A>G	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2762A>G	18.37:g.77246917A>G	ENSP00000389377:p.Asp921Gly					NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.D449G|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.D921G|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron	p.D908G	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2779	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	921			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.2723A>G		.	.	.	.	.	.	.	.	.	.	A	21.4	4.146207	0.77888	.	.	ENSG00000131196	ENST00000318065;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T	0.55930	1.59;0.49	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	L	0.45352	1.415	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.62714	-0.6796	9	.	.	.	-39.5862	14.2159	0.65792	1.0:0.0:0.0:0.0	.	921;908	O95644;B5B2M5	NFAC1_HUMAN;.	G	921;908;449;908;885	ENSP00000327850:D908G;ENSP00000439992:D449G	.	D	+	2	0	NFATC1	75347905	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.893000	0.87330	1.823000	0.53134	0.459000	0.35465	GAC		0.637	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		3	122	0	0	0	0.115264	0	3	122				
ASAP3	55616	broad.mit.edu	37	1	23763755	23763755	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:23763755C>T	ENST00000336689.3	-	14	1254	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ASAP3_ENST00000437606.2_Missense_Mutation_p.E395K|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	404					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCGCTGGGCTCCCCGAGGAAG	0.662																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(1210-1212)Gag>Aag		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							12.0	13.0	13.0					1																	23763755		2192	4291	6483	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23763755C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1210G>A	1.37:g.23763755C>T	ENSP00000338769:p.Glu404Lys					ASAP3_ENST00000437606.2_Missense_Mutation_p.E395K|ASAP3_ENST00000484906.1_5'UTR	p.E404K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			14	1254	-			404					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.1210G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770915	0.69992	.	.	ENSG00000088280	ENST00000336689;ENST00000437606	T;T	0.54279	0.59;0.58	4.35	4.35	0.52113	.	1.114660	0.06926	N	0.810179	T	0.53270	0.1786	L	0.27053	0.805	0.47245	D	0.999366	P;B;P	0.52316	0.952;0.066;0.919	P;B;B	0.49085	0.6;0.048;0.395	T	0.51084	-0.8750	10	0.48119	T	0.1	.	15.9634	0.79948	0.0:1.0:0.0:0.0	.	395;273;404	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	K	404;395	ENSP00000338769:E404K;ENSP00000408826:E395K	ENSP00000338769:E404K	E	-	1	0	ASAP3	23636342	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	5.386000	0.66238	2.415000	0.81967	0.478000	0.44815	GAG		0.662	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		5	15	0	0	0	0.021553	0	5	15				
PAG1	55824	broad.mit.edu	37	8	81897445	81897445	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:81897445C>T	ENST00000220597.4	-	7	1152	c.442G>A	c.(442-444)Gcg>Acg	p.A148T		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	148					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACACTTCTCGCCGTGAGCATG	0.577																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(442-444)Gcg>Acg		phosphoprotein associated with glycosphingolipid microdomains 1							61.0	60.0	60.0					8																	81897445		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81897445C>T	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.442G>A	8.37:g.81897445C>T	ENSP00000220597:p.Ala148Thr						p.A148T	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		7	1152	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		148					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.442G>A	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	C	4.095	0.015723	0.07959	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.23	-3.65	0.04502	.	1.848670	0.02427	N	0.083149	T	0.17492	0.0420	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10660	-1.0620	9	0.21540	T	0.41	0.348	4.4693	0.11704	0.093:0.3523:0.0924:0.4623	.	148	Q9NWQ8	PAG1_HUMAN	T	148	.	ENSP00000220597:A148T	A	-	1	0	PAG1	82060000	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.831000	0.04405	-0.430000	0.07318	0.655000	0.94253	GCG		0.577	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		14	129	0	0	0	0.132662	0	14	129				
CD1A	909	broad.mit.edu	37	1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(598-600)Cgg>Tgg		CD1a molecule	Antithymocyte globulin(DB00098)						115.0	97.0	103.0					1																	158226066		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226066C>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.598C>T	1.37:g.158226066C>T	ENSP00000289429:p.Arg200Trp						p.R200W	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	1131	+	all_hematologic(112;0.0378)		200			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.598C>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122253	0.37436	.	.	ENSG00000158477	ENST00000289429	T	0.19938	2.11	4.23	-8.46	0.00942	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.34483	0.0899	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47923	-0.9079	10	0.87932	D	0	-16.0605	9.723	0.40315	0.7099:0.1423:0.0:0.1478	.	200	P06126	CD1A_HUMAN	W	200	ENSP00000289429:R200W	ENSP00000289429:R200W	R	+	1	2	CD1A	156492690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.433000	0.00472	-2.213000	0.00735	-1.815000	0.00603	CGG		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		8	123	0	0	0	0.038147	0	8	123				
FRMPD3	84443	broad.mit.edu	37	X	106796098	106796098	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:106796098C>T	ENST00000276185.4	+	8	683	c.683C>T	c.(682-684)gCc>gTc	p.A228V	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTTGAGTATGCCGGGCCAGAA	0.468																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(682-684)gCc>gTc		FERM and PDZ domain containing 3							43.0	37.0	39.0					X																	106796098		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106796098C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.683C>T	X.37:g.106796098C>T	ENSP00000276185:p.Ala228Val					FRMPD3_ENST00000477796.1_3'UTR	p.A228V			Q5JV73	FRPD3_HUMAN			8	683	+			228			FERM.		Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	c	16.45	3.127297	0.56721	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.75050	-0.9;-0.9	5.82	4.96	0.65561	.	0.501365	0.20615	N	0.088896	T	0.52041	0.1710	N	0.01874	-0.695	0.26935	N	0.966379	.	.	.	.	.	.	T	0.52434	-0.8576	8	0.45353	T	0.12	.	13.0787	0.59100	0.0:0.9214:0.0:0.0786	.	.	.	.	V	228;176	ENSP00000276185:A228V;ENSP00000398668:A176V	ENSP00000276185:A228V	A	+	2	0	FRMPD3	106682754	1.000000	0.71417	0.964000	0.40570	0.954000	0.61252	4.464000	0.60134	1.210000	0.43336	0.591000	0.81541	GCC		0.468	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		3	34	0	0	0	0.115264	0	3	34				
FBXO43	286151	broad.mit.edu	37	8	101153320	101153320	+	Missense_Mutation	SNP	G	G	A	rs549146365		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:101153320G>A	ENST00000428847.2	-	2	1478	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	388					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTGTTCCCGAAGGGTGGAC	0.483																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1162-1164)Cgg>Tgg		F-box protein 43							114.0	109.0	111.0					8																	101153320		1948	4157	6105	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101153320G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1162C>T	8.37:g.101153320G>A	ENSP00000403293:p.Arg388Trp						p.R388W	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1478	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		388						Missense_Mutation	SNP	ENST00000428847.2	37	c.1162C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175611	0.57692	.	.	ENSG00000156509	ENST00000428847	T	0.39056	1.1	5.1	2.08	0.27032	.	0.450696	0.22328	N	0.061509	T	0.42517	0.1206	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50791	0.65;0.65	T	0.32107	-0.9919	10	0.87932	D	0	-0.0142	4.6195	0.12442	0.0715:0.126:0.4159:0.3866	.	354;388	C9J908;Q4G163	.;FBX43_HUMAN	W	388	ENSP00000403293:R388W	ENSP00000403293:R388W	R	-	1	2	FBXO43	101222496	0.590000	0.26815	0.838000	0.33150	0.969000	0.65631	1.179000	0.31993	0.638000	0.30545	0.655000	0.94253	CGG		0.483	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		61	281	0	0	0	0.139131	0	61	281				
RPN2	6185	broad.mit.edu	37	20	35827572	35827572	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:35827572C>T	ENST00000237530.6	+	4	734	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RPN2_ENST00000373622.5_Silent_p.S109S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	141					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCTTGGCATCCCAAGAAGCAC	0.527																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(421-423)tcC>tcT		ribophorin II							176.0	131.0	146.0					20																	35827572		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35827572C>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.423C>T	20.37:g.35827572C>T						RPN2_ENST00000373622.5_Silent_p.S109S	p.S141S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			4	734	+		Myeloproliferative disorder(115;0.00878)	141					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.423C>T	CCDS13291.1																																																																																				0.527	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		11	254	0	0	0	0.069234	0	11	254				
ABCA7	10347	broad.mit.edu	37	19	1058700	1058700	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:1058700C>T	ENST00000263094.6	+	38	5464	c.5233C>T	c.(5233-5235)Ctt>Ttt	p.L1745F	ABCA7_ENST00000433129.1_Missense_Mutation_p.L1745F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L1607F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1745					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCTCTTCCTTCTCTTCAC	0.572																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(5233-5235)Ctt>Ttt		ATP-binding cassette, sub-family A (ABC1), member 7							85.0	87.0	86.0					19																	1058700		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058700C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5233C>T	19.37:g.1058700C>T	ENSP00000263094:p.Leu1745Phe					ABCA7_ENST00000435683.2_Missense_Mutation_p.L1607F|ABCA7_ENST00000433129.1_Missense_Mutation_p.L1745F	p.L1745F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	38	5464	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1745					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.5233C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.537764	0.00942	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88509	-2.39;-2.39	4.12	0.691	0.18045	.	.	.	.	.	T	0.63474	0.2514	N	0.01576	-0.805	0.36682	D	0.879117	B;B	0.13594	0.008;0.007	B;B	0.22880	0.042;0.028	T	0.58956	-0.7544	9	0.02654	T	1	.	3.2745	0.06893	0.1782:0.4448:0.0:0.377	.	870;1745	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	F	1745	ENSP00000263094:L1745F;ENSP00000414062:L1745F	ENSP00000263094:L1745F	L	+	1	0	ABCA7	1009700	1.000000	0.71417	0.989000	0.46669	0.253000	0.25986	2.348000	0.44045	0.058000	0.16222	-0.258000	0.10820	CTT		0.572	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		31	189	0	0	0	0.134883	0	31	189				
EFCAB13	124989	broad.mit.edu	37	17	45473259	45473259	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:45473259G>A	ENST00000331493.2	+	17	2272	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.D525N	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	621						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GAGTGTTTCTGACCTGTGGAA	0.373																																						ENST00000331493.2																			0											c.(1861-1863)Gac>Aac		EF-hand calcium binding domain 13							118.0	116.0	116.0					17																	45473259		2203	4300	6503	SO:0001583	missense	124989							g.chr17:45473259G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1861G>A	17.37:g.45473259G>A	ENSP00000332111:p.Asp621Asn					EFCAB13_ENST00000517484.1_Missense_Mutation_p.D525N	p.D621N	NM_152347.4	NP_689560.3					17	2272	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1861G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	g	7.121	0.578050	0.13686	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000523842	D;T;T	0.83335	-1.71;-1.45;-1.45	3.6	-0.908	0.10517	EF-hand-like domain (1);	0.946038	0.08852	N	0.884323	T	0.77485	0.4137	L	0.31926	0.97	0.09310	N	1	P;B	0.50528	0.936;0.017	P;B	0.50934	0.654;0.012	T	0.65837	-0.6071	10	0.48119	T	0.1	-19.8205	4.585	0.12279	0.2307:0.4111:0.3582:0.0	.	621;525	Q8IY85;G3V128	CQ057_HUMAN;.	N	621;525;147	ENSP00000332111:D621N;ENSP00000430048:D525N;ENSP00000429566:D147N	ENSP00000332111:D621N	D	+	1	0	C17orf57	42828258	0.001000	0.12720	0.011000	0.14972	0.399000	0.30720	-0.198000	0.09505	-0.116000	0.11893	0.586000	0.80456	GAC		0.373	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		27	112	0	0	0	0.099896	0	27	112				
ANKRD34A	284615	broad.mit.edu	37	1	145473666	145473666	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:145473666C>G	ENST00000323397.4	+	4	1631	c.338C>G	c.(337-339)tCg>tGg	p.S113W	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	113						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGGCGCCTCGGCTCTTGTC	0.711																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(337-339)tCg>tGg		ankyrin repeat domain 34A							20.0	22.0	21.0					1																	145473666		2200	4297	6497	SO:0001583	missense	284615							g.chr1:145473666C>G	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.338C>G	1.37:g.145473666C>G	ENSP00000314103:p.Ser113Trp						p.S113W	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	1631	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		113					B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.338C>G	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164394	0.78339	.	.	ENSG00000181039	ENST00000323397	T	0.66638	-0.22	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77512	-0.2560	10	0.87932	D	0	-11.0891	16.1197	0.81342	0.0:1.0:0.0:0.0	.	113	Q69YU3	AN34A_HUMAN	W	113	ENSP00000314103:S113W	ENSP00000314103:S113W	S	+	2	0	ANKRD34A	144185023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.429000	0.80309	2.658000	0.90341	0.491000	0.48974	TCG		0.711	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			15	42	0	0	0	0.119110	0	15	42				
SIK1	150094	broad.mit.edu	37	21	44841623	44841623	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr21:44841623G>T	ENST00000270162.6	-	5	526	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GACAGGATTTGCCAGAACTTC	0.552																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(394-396)Caa>Aaa		salt-inducible kinase 1							81.0	72.0	75.0					21																	44841623		2203	4300	6503	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44841623G>T	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.394C>A	21.37:g.44841623G>T	ENSP00000270162:p.Gln132Lys						p.Q132K	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			5	526	-			132			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.394C>A	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307772	0.81247	.	.	ENSG00000142178	ENST00000270162	T	0.34072	1.38	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75288	-0.3370	10	0.87932	D	0	.	18.8844	0.92370	0.0:0.0:1.0:0.0	.	132	P57059	SIK1_HUMAN	K	132	ENSP00000270162:Q132K	ENSP00000270162:Q132K	Q	-	1	0	SIK1	43666051	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	9.304000	0.96190	2.458000	0.83093	0.561000	0.74099	CAA		0.552	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		15	36	1	0	2.32078e-09	0.132662	2.64312e-09	15	36				
PCNXL2	80003	broad.mit.edu	37	1	233270852	233270852	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:233270852C>T	ENST00000258229.9	-	21	3978	c.3744G>A	c.(3742-3744)ttG>ttA	p.L1248L	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.L381L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1248						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGTGAAGCTCAAGTTAATAA	0.398																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3742-3744)ttG>ttA		pecanex-like 2 (Drosophila)							77.0	77.0	77.0					1																	233270852		1867	4109	5976	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233270852C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3744G>A	1.37:g.233270852C>T						PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.L381L	p.L1248L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			21	3978	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1248					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.3744G>A	CCDS44335.1																																																																																				0.398	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		13	50	0	0	0	0.105934	0	13	50				
MFGE8	4240	broad.mit.edu	37	15	89450552	89450552	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr15:89450552G>A	ENST00000566497.1	-	3	322	c.261C>T	c.(259-261)gcC>gcT	p.A87A	MFGE8_ENST00000542878.1_Silent_p.A43A|MFGE8_ENST00000268151.7_Silent_p.A87A|MFGE8_ENST00000268150.8_Silent_p.A87A|MFGE8_ENST00000539437.1_Silent_p.A79A|MFGE8_ENST00000559997.1_5'UTR			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	87	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGACGAGGCGGCGATCTGTG	0.617																																						ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(235-237)gcC>gcT		milk fat globule-EGF factor 8 protein							133.0	93.0	107.0					15																	89450552		2200	4299	6499	SO:0001819	synonymous_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89450552G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.261C>T	15.37:g.89450552G>A						MFGE8_ENST00000268151.7_Silent_p.A87A|MFGE8_ENST00000268150.8_Silent_p.A87A|MFGE8_ENST00000542878.1_Silent_p.A43A|MFGE8_ENST00000566497.1_Silent_p.A87A|MFGE8_ENST00000559997.1_5'UTR	p.A79A			Q08431	MFGM_HUMAN			4	373	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		87			F5/8 type C 1.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	c.237C>T	CCDS10347.1																																																																																				0.617	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		23	38	0	0	0	0.069288	0	23	38				
CHGA	1113	broad.mit.edu	37	14	93393911	93393911	+	Silent	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr14:93393911C>A	ENST00000216492.5	+	4	484	c.204C>A	c.(202-204)tcC>tcA	p.S68S	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Silent_p.S68S	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	68					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGATCCTTTCCATTCTGAGAC	0.443																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(202-204)tcC>tcA		chromogranin A (parathyroid secretory protein 1)							192.0	206.0	201.0					14																	93393911		2203	4300	6503	SO:0001819	synonymous_variant	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93393911C>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.204C>A	14.37:g.93393911C>A						CHGA_ENST00000334654.4_Silent_p.S68S|CHGA_ENST00000553866.1_3'UTR	p.S68S	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	4	484	+		all_cancers(154;0.0843)	68					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	c.204C>A	CCDS9906.1																																																																																				0.443	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		5	295	1	0	0.014758	0.014758	0.0162074	5	295				
KRT39	390792	broad.mit.edu	37	17	39122694	39122694	+	Silent	SNP	G	G	A	rs144576097	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:39122694G>A	ENST00000355612.2	-	1	450	c.415C>T	c.(415-417)Cta>Tta	p.L139L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	139	Linker 1.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TCAGGACATAGAACAGGGAGC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		19213	0.0		0.002	False		,,,				2504	0.0					ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(415-417)Cta>Tta		keratin 39		G		2,4404	4.2+/-10.8	0,2,2201	183.0	186.0	185.0		415	-6.4	0.0	17	dbSNP_134	185	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	KRT39	NM_213656.3		0,3,6496	AA,AG,GG		0.0116,0.0454,0.0231		139/492	39122694	3,12995	2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39122694G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.415C>T	17.37:g.39122694G>A						AC004231.2_ENST00000418393.1_RNA	p.L139L	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	450	-		Breast(137;0.00043)|Ovarian(249;0.15)	139			Linker 1.|Rod.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.415C>T	CCDS11382.1																																																																																				0.423	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		55	189	0	0	0	0.139131	0	55	189				
ANAPC1	64682	broad.mit.edu	37	2	112621447	112621447	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:112621447G>T	ENST00000341068.3	-	9	1629	c.857C>A	c.(856-858)tCt>tAt	p.S286Y		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCCTGTTCAGAGAACTTTAA	0.398																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(856-858)tCt>tAt		anaphase promoting complex subunit 1							27.0	29.0	28.0					2																	112621447		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		g.chr2:112621447G>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.857C>A	2.37:g.112621447G>T	ENSP00000339109:p.Ser286Tyr						p.S286Y	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1629	-			286					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.857C>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345853	0.61073	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.42765	0.1217	L	0.36672	1.1	0.37281	D	0.907859	P	0.38922	0.651	B	0.30855	0.121	T	0.53229	-0.8468	8	0.49607	T	0.09	-13.6752	17.4911	0.87703	0.0:0.0:1.0:0.0	.	286	Q9H1A4	APC1_HUMAN	Y	286	.	ENSP00000339109:S286Y	S	-	2	0	ANAPC1	112337918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.388000	0.79795	2.553000	0.86117	0.650000	0.86243	TCT		0.398	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		3	30	1	0	0.115264	0.115264	0.125464	3	30				
RBM15	64783	broad.mit.edu	37	1	110882129	110882129	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:110882129C>T	ENST00000369784.3	+	1	1002	c.102C>T	c.(100-102)ctC>ctT	p.L34L	RBM15_ENST00000602849.1_Silent_p.L34L|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.L34L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	34					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTACTCAGCTCCGCGGAGACG	0.677			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(100-102)ctC>ctT		RNA binding motif protein 15							19.0	23.0	21.0					1																	110882129		2203	4299	6502	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882129C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.102C>T	1.37:g.110882129C>T						RBM15_ENST00000602849.1_Silent_p.L34L|RBM15_ENST00000487146.2_Silent_p.L34L	p.L34L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1002	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	34					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.102C>T	CCDS822.1																																																																																				0.677	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		14	36	0	0	0	0.105934	0	14	36				
VRK3	51231	broad.mit.edu	37	19	50482394	50482394	+	Missense_Mutation	SNP	C	C	T	rs368425122	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:50482394C>T	ENST00000599538.1	-	14	2046	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	VRK3_ENST00000601341.1_Missense_Mutation_p.R411H|VRK3_ENST00000443401.2_Missense_Mutation_p.R230H|VRK3_ENST00000316763.3_Missense_Mutation_p.R461H|VRK3_ENST00000377011.2_Missense_Mutation_p.R411H|VRK3_ENST00000594948.1_Missense_Mutation_p.R461H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	461					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGAGACACACGCAGATCCTG	0.572													C|||	5	0.000998403	0.0	0.0	5008	,	,		20192	0.001		0.0	False		,,,				2504	0.0041				Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(1381-1383)cGt>cAt		vaccinia related kinase 3							164.0	131.0	142.0					19																	50482394		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50482394C>T	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1382G>A	19.37:g.50482394C>T	ENSP00000469880:p.Arg461His					VRK3_ENST00000601341.1_Missense_Mutation_p.R411H|VRK3_ENST00000443401.2_Missense_Mutation_p.R230H|VRK3_ENST00000594948.1_Missense_Mutation_p.R461H|VRK3_ENST00000377011.2_Missense_Mutation_p.R411H|VRK3_ENST00000316763.3_Missense_Mutation_p.R461H	p.R461H			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	14	2046	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	461					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.1382G>A	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	7.473	0.647133	0.14516	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401	T;T;T	0.20069	2.1;2.1;2.1	4.82	1.38	0.22167	Protein kinase-like domain (1);	0.305466	0.31233	N	0.008010	T	0.16514	0.0397	M	0.64997	1.995	0.09310	N	1	B;B;B	0.25719	0.132;0.102;0.102	B;B;B	0.13407	0.008;0.005;0.009	T	0.14090	-1.0485	10	0.31617	T	0.26	-2.9237	4.821	0.13390	0.1742:0.6304:0.0:0.1954	.	230;411;461	B4DGW1;A6NEG5;Q8IV63	.;.;VRK3_HUMAN	H	461;411;230	ENSP00000324636:R461H;ENSP00000366210:R411H;ENSP00000414907:R230H	ENSP00000324636:R461H	R	-	2	0	VRK3	55174206	0.000000	0.05858	0.171000	0.22900	0.121000	0.20230	-0.245000	0.08890	0.535000	0.28714	0.561000	0.74099	CGT		0.572	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		53	113	0	0	0	0.139131	0	53	113				
OIT3	170392	broad.mit.edu	37	10	74673159	74673159	+	Missense_Mutation	SNP	G	G	A	rs370087806		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr10:74673159G>A	ENST00000334011.5	+	6	1102	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	295	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACCTCCTGCCGAGGAGTGTCC	0.542																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(883-885)cGa>cAa		oncoprotein induced transcript 3							139.0	122.0	128.0					10																	74673159		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74673159G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.884G>A	10.37:g.74673159G>A	ENSP00000333900:p.Arg295Gln						p.R295Q	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1102	+	Prostate(51;0.0198)		295			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.884G>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477755	0.63849	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.83335	-1.71	5.95	4.1	0.47936	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.170157	0.27375	N	0.019657	T	0.72763	0.3501	L	0.43152	1.355	0.38393	D	0.94544	D	0.53885	0.963	B	0.43889	0.435	T	0.69862	-0.5030	10	0.12766	T	0.61	-5.7756	5.4892	0.16767	0.3597:0.0:0.6403:0.0	.	295	Q8WWZ8	OIT3_HUMAN	Q	295	ENSP00000333900:R295Q	ENSP00000333900:R295Q	R	+	2	0	OIT3	74343165	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.760000	0.47581	1.530000	0.49136	0.655000	0.94253	CGA		0.542	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		62	149	0	0	0	0.139131	0	62	149				
CRNN	49860	broad.mit.edu	37	1	152382225	152382225	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:152382225C>T	ENST00000271835.3	-	3	1395	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	445					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGAGTGGTCATCAACCCAT	0.577																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1333-1335)Gac>Aac		cornulin							181.0	138.0	153.0					1																	152382225		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382225C>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1333G>A	1.37:g.152382225C>T	ENSP00000271835:p.Asp445Asn					RP1-91G5.3_ENST00000411804.1_RNA	p.D445N	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1395	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		445					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1333G>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349670	0.82132	.	.	ENSG00000143536	ENST00000271835	T	0.06449	3.3	4.92	3.97	0.46021	.	0.109084	0.41194	D	0.000922	T	0.11495	0.0280	M	0.62723	1.935	0.28267	N	0.924576	D	0.89917	1.0	D	0.83275	0.996	T	0.00621	-1.1640	10	0.87932	D	0	.	10.3114	0.43710	0.0:0.7833:0.2167:0.0	.	445	Q9UBG3	CRNN_HUMAN	N	445	ENSP00000271835:D445N	ENSP00000271835:D445N	D	-	1	0	CRNN	150648849	0.996000	0.38824	0.984000	0.44739	0.423000	0.31445	1.604000	0.36804	2.536000	0.85505	0.650000	0.86243	GAC		0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		25	87	0	0	0	0.076483	0	25	87				
LRP6	4040	broad.mit.edu	37	12	12315147	12315147	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:12315147G>A	ENST00000261349.4	-	10	2335	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	LRP6_ENST00000543091.1_Silent_p.L753L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	753	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCCAACGCGAGAGCTCTGG	0.478																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2257-2259)ctC>ctT		low density lipoprotein receptor-related protein 6							135.0	121.0	126.0					12																	12315147		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12315147G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2259C>T	12.37:g.12315147G>A						LRP6_ENST00000543091.1_Silent_p.L753L	p.L753L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			10	2335	-		Prostate(47;0.0865)	753			Beta-propeller 3.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.2259C>T	CCDS8647.1																																																																																				0.478	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			13	199	0	0	0	0.119110	0	13	199				
FCRLB	127943	broad.mit.edu	37	1	161692465	161692465	+	Start_Codon_SNP	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:161692465G>A	ENST00000367948.2	+	3	218	c.3G>A	c.(1-3)atG>atA	p.M1I	FCRLB_ENST00000367946.3_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367944.3_Start_Codon_SNP_p.M1I|FCRLB_ENST00000392158.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367945.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000336830.5_Start_Codon_SNP_p.M1I			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	1					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GATCCATCATGTGGCCACTGA	0.557																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1-3)atG>atA		Fc receptor-like B							158.0	149.0	152.0					1																	161692465		2203	4300	6503	SO:0001582	initiator_codon_variant	127943					endoplasmic reticulum		g.chr1:161692465G>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.3G>A	1.37:g.161692465G>A	ENSP00000356925:p.Met1Ile					FCRLB_ENST00000336830.5_Start_Codon_SNP_p.M1I|FCRLB_ENST00000392158.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367944.3_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367945.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367946.3_Start_Codon_SNP_p.M1I	p.M1I			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		3	218	+	all_hematologic(112;0.0359)		1					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Translation_Start_Site	SNP	ENST00000367948.2	37	c.3G>A	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252642	0.39797	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.02682	4.92;4.45;4.2;4.55;4.35;4.92	4.09	3.17	0.36434	.	0.334348	0.25169	N	0.032614	T	0.05686	0.0149	.	.	.	0.80722	D	1	B;B;P;B;B	0.48294	0.001;0.004;0.908;0.004;0.001	B;B;D;B;B	0.64144	0.002;0.006;0.922;0.006;0.001	T	0.05162	-1.0902	9	0.87932	D	0	.	7.7923	0.29127	0.1152:0.0:0.8848:0.0	.	1;1;1;1;1	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	I	1	ENSP00000356925:M1I;ENSP00000356923:M1I;ENSP00000356922:M1I;ENSP00000338598:M1I;ENSP00000356921:M1I;ENSP00000375999:M1I	ENSP00000338598:M1I	M	+	3	0	FCRLB	159959089	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.377000	0.44300	1.063000	0.40649	0.561000	0.74099	ATG		0.557	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378	Missense_Mutation	84	250	0	0	0	0.139131	0	84	250				
ANO4	121601	broad.mit.edu	37	12	101480443	101480443	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:101480443C>T	ENST00000392977.3	+	17	1752	c.1542C>T	c.(1540-1542)tgC>tgT	p.C514C	ANO4_ENST00000392979.3_Silent_p.C479C|ANO4_ENST00000299222.9_Silent_p.C34C|ANO4_ENST00000550015.1_Silent_p.C34C			Q32M45	ANO4_HUMAN	anoctamin 4	514					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCAGATCTGCGTGGTGATTG	0.507										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1435-1437)tgC>tgT		anoctamin 4							351.0	296.0	315.0					12																	101480443		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101480443C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1542C>T	12.37:g.101480443C>T		HNSCC(74;0.22)				ANO4_ENST00000550015.1_Silent_p.C34C|ANO4_ENST00000392977.3_Silent_p.C514C|ANO4_ENST00000299222.9_Silent_p.C34C	p.C479C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			16	1798	+			514					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.1437C>T																																																																																					0.507	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		9	672	0	0	0	0.058154	0	9	672				
MUC16	94025	broad.mit.edu	37	19	9065980	9065980	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:9065980T>C	ENST00000397910.4	-	3	21669	c.21466A>G	c.(21466-21468)Agc>Ggc	p.S7156G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7158	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTGTGGCTCAGCTTTGGA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21466-21468)Agc>Ggc		mucin 16, cell surface associated							186.0	171.0	176.0					19																	9065980		2084	4230	6314	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065980T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21466A>G	19.37:g.9065980T>C	ENSP00000381008:p.Ser7156Gly						p.S7156G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21669	-			7158			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21466A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.264	0.416767	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.28069	1.63	2.59	2.59	0.31030	.	.	.	.	.	T	0.35307	0.0927	L	0.50333	1.59	.	.	.	P	0.44344	0.833	P	0.50192	0.634	T	0.49437	-0.8940	8	0.87932	D	0	.	7.0751	0.25199	0.0:0.0:0.0:1.0	.	7156	B5ME49	.	G	7156	ENSP00000381008:S7156G	ENSP00000381008:S7156G	S	-	1	0	MUC16	8926980	0.013000	0.17824	0.001000	0.08648	0.004000	0.04260	1.539000	0.36104	1.443000	0.47586	0.324000	0.21423	AGC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	139	0	0	0	0.144211	0	32	139				
CILP2	148113	broad.mit.edu	37	19	19654523	19654523	+	Missense_Mutation	SNP	G	G	A	rs566423223		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:19654523G>A	ENST00000291495.5	+	8	1254	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CILP2_ENST00000586018.1_Missense_Mutation_p.R396Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	390						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCCGGCCCCGAGAGTACCTG	0.662																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1186-1188)cGa>cAa		cartilage intermediate layer protein 2							112.0	135.0	127.0					19																	19654523		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654523G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1169G>A	19.37:g.19654523G>A	ENSP00000291495:p.Arg390Gln					CILP2_ENST00000291495.4_Missense_Mutation_p.R390Q	p.R396Q			Q8IUL8	CILP2_HUMAN			8	1289	+			390					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1187G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791179	0.16258	.	.	ENSG00000160161	ENST00000291495	T	0.50001	0.76	4.22	-8.44	0.00950	.	0.870178	0.10141	N	0.710797	T	0.12817	0.0311	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17289	-1.0374	10	0.20519	T	0.43	-7.4345	3.5253	0.07757	0.3687:0.0901:0.4106:0.1307	.	390;390	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	390	ENSP00000291495:R390Q	ENSP00000291495:R390Q	R	+	2	0	CILP2	19515523	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.423000	0.07034	-2.263000	0.00689	-0.718000	0.03613	CGA		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		125	491	0	0	0	0.139131	0	125	491				
WDR53	348793	broad.mit.edu	37	3	196288329	196288329	+	Silent	SNP	C	C	T	rs556124469		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:196288329C>T	ENST00000332629.5	-	3	585	c.18G>A	c.(16-18)acG>acA	p.T6T	WDR53_ENST00000429115.1_Intron|WDR53_ENST00000433160.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	6										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AATGCCCACCCGTCCACTTGA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		15618	0.0		0.0	False		,,,				2504	0.001					ENST00000332629.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13						c.(16-18)acG>acA		WD repeat domain 53							56.0	58.0	57.0					3																	196288329		2203	4296	6499	SO:0001819	synonymous_variant	348793							g.chr3:196288329C>T	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.18G>A	3.37:g.196288329C>T						WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	p.T6T	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	585	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		6					A0MNP1	Silent	SNP	ENST00000332629.5	37	c.18G>A	CCDS3318.1																																																																																				0.522	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		15	89	0	0	0	0.160694	0	15	89				
DHX34	9704	broad.mit.edu	37	19	47856613	47856613	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:47856613C>T	ENST00000328771.4	+	2	675	c.326C>T	c.(325-327)tCt>tTt	p.S109F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	109					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATCAACCTCTCTGTTCTTGGC	0.637																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(325-327)tCt>tTt		DEAH (Asp-Glu-Ala-His) box polypeptide 34							100.0	98.0	99.0					19																	47856613		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856613C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.326C>T	19.37:g.47856613C>T	ENSP00000331907:p.Ser109Phe						p.S109F	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	675	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	109					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.326C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007119	0.75046	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.03004	4.08	5.08	5.08	0.68730	.	0.207966	0.32852	N	0.005562	T	0.10551	0.0258	L	0.42245	1.32	0.53688	D	0.999978	D;D	0.65815	0.987;0.995	P;P	0.57548	0.794;0.823	T	0.00778	-1.1570	10	0.66056	D	0.02	.	16.8213	0.85747	0.0:1.0:0.0:0.0	.	109;109	Q14147;B4E3G3	DHX34_HUMAN;.	F	109	ENSP00000331907:S109F	ENSP00000257252:S109F	S	+	2	0	DHX34	52548453	1.000000	0.71417	0.952000	0.39060	0.448000	0.32197	6.544000	0.73878	2.766000	0.95052	0.549000	0.68633	TCT		0.637	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		52	282	0	0	0	0.139131	0	52	282				
TBPL2	387332	broad.mit.edu	37	14	55903726	55903726	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr14:55903726G>A	ENST00000247219.5	-	2	231	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCTGGGTGGGGCAAGGCCATC	0.483																																						ENST00000247219.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(160-162)gCc>gTc		TATA box binding protein like 2							75.0	79.0	78.0					14																	55903726		2187	4291	6478	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903726G>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.161C>T	14.37:g.55903726G>A	ENSP00000247219:p.Ala54Val						p.A54V	NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN			2	231	-			54						Missense_Mutation	SNP	ENST00000247219.5	37	c.161C>T	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	0.804	-0.754319	0.03041	.	.	ENSG00000182521	ENST00000247219	T	0.45668	0.89	4.99	1.14	0.20703	.	1.294490	0.04858	N	0.443495	T	0.36991	0.0987	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23226	-1.0194	10	0.19147	T	0.46	2.7485	8.3302	0.32182	0.3372:0.0:0.6628:0.0	.	54	Q6SJ96	TBPL2_HUMAN	V	54	ENSP00000247219:A54V	ENSP00000247219:A54V	A	-	2	0	TBPL2	54973479	0.014000	0.17966	0.000000	0.03702	0.513000	0.34164	1.812000	0.38952	0.044000	0.15775	-0.253000	0.11424	GCC		0.483	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		4	202	0	0	0	0.021553	0	4	202				
IFFO1	25900	broad.mit.edu	37	12	6665033	6665033	+	Missense_Mutation	SNP	C	C	T	rs372788159		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:6665033C>T	ENST00000396840.2	-	1	204	c.163G>A	c.(163-165)Ggg>Agg	p.G55R	NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.G55R|IFFO1_ENST00000336604.4_Missense_Mutation_p.G55R			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	55						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						gggcccggcccgggcggcgAG	0.726																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(163-165)Ggg>Agg		intermediate filament family orphan 1		C	ARG/GLY,ARG/GLY,ARG/GLY	0,4394		0,0,2197	20.0	23.0	22.0		163,163,163	4.3	1.0	12		22	3,8567		0,3,4282	no	missense,missense,missense	IFFO1	NM_001039670.2,NM_001193457.1,NM_080730.4	125,125,125	0,3,6479	TT,TC,CC		0.035,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	55/564,55/572,55/563	6665033	3,12961	2197	4285	6482	SO:0001583	missense	25900					intermediate filament		g.chr12:6665033C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.163G>A	12.37:g.6665033C>T	ENSP00000380052:p.Gly55Arg					IFFO1_ENST00000356896.4_Missense_Mutation_p.G55R|IFFO1_ENST00000396840.2_Missense_Mutation_p.G55R	p.G55R	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	204	-			55					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.163G>A		.	.	.	.	.	.	.	.	.	.	C	19.28	3.798132	0.70567	0.0	3.5E-4	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.88664	-2.35;-2.33;-2.41	4.33	4.33	0.51752	.	1.812270	0.03271	N	0.184764	D	0.89005	0.6592	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	P;P;P;P	0.49421	0.524;0.61;0.61;0.61	T	0.78685	-0.2108	10	0.23891	T	0.37	-25.7091	15.7441	0.77926	0.0:1.0:0.0:0.0	.	55;55;55;55	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	R	55	ENSP00000337593:G55R;ENSP00000380052:G55R;ENSP00000349364:G55R	ENSP00000337593:G55R	G	-	1	0	IFFO1	6535294	0.950000	0.32346	0.960000	0.40013	0.590000	0.36582	3.419000	0.52728	2.230000	0.72887	0.561000	0.74099	GGG		0.726	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		4	64	0	0	0	0.150653	0	4	64				
FDXR	2232	broad.mit.edu	37	17	72862630	72862630	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:72862630C>T	ENST00000293195.5	-	4	409	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	FDXR_ENST00000581530.1_Missense_Mutation_p.V111M|FDXR_ENST00000582944.1_Missense_Mutation_p.V103M|FDXR_ENST00000583917.1_Missense_Mutation_p.V112M|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.V142M|FDXR_ENST00000442102.2_Missense_Mutation_p.V154M|FDXR_ENST00000455107.2_Missense_Mutation_p.V67M|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000544854.1_Missense_Mutation_p.V59M	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	111					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCCACCTCCACGTTGCCCCAG	0.652																																						ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(199-201)Gtg>Atg		ferredoxin reductase							40.0	34.0	36.0					17																	72862630		2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72862630C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.331G>A	17.37:g.72862630C>T	ENSP00000293195:p.Val111Met					FDXR_ENST00000582944.1_Missense_Mutation_p.V103M|FDXR_ENST00000544854.1_Missense_Mutation_p.V59M|FDXR_ENST00000442102.2_Missense_Mutation_p.V154M|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000293195.5_Missense_Mutation_p.V111M|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.V111M|FDXR_ENST00000413947.2_Missense_Mutation_p.V142M|FDXR_ENST00000583917.1_Missense_Mutation_p.V112M	p.V67M			P22570	ADRO_HUMAN			5	615	-	all_lung(278;0.172)|Lung NSC(278;0.207)		111					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.199G>A	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761662	0.49468	.	.	ENSG00000161513	ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.05	5.05	0.67936	.	0.061993	0.64402	D	0.000005	T	0.66376	0.2783	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.996;0.997;0.988;0.997;0.995;0.991;0.998;0.991;0.998	T	0.76460	-0.2951	10	0.87932	D	0	-2.8294	18.0275	0.89273	0.0:1.0:0.0:0.0	.	154;142;109;59;142;111;103;111;111	B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	M	59;111;67;154;142	ENSP00000445432:V59M;ENSP00000293195:V111M;ENSP00000390875:V67M;ENSP00000416515:V154M;ENSP00000408595:V142M	ENSP00000293195:V111M	V	-	1	0	FDXR	70374225	0.998000	0.40836	0.976000	0.42696	0.995000	0.86356	3.760000	0.55235	2.362000	0.80069	0.561000	0.74099	GTG		0.652	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		18	44	0	0	0	0.049695	0	18	44				
ARF5	381	broad.mit.edu	37	7	127231136	127231136	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:127231136C>T	ENST00000000233.5	+	5	604	c.450C>T	c.(448-450)agC>agT	p.S150S	FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000265825.5_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	150					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ACTTACGCAGCCGCACGGTAG	0.577																																						ENST00000000233.5																			0				cervix(2)|kidney(1)|lung(10)|ovary(1)	14						c.(448-450)agC>agT		ADP-ribosylation factor 5							86.0	79.0	82.0					7																	127231136		2203	4300	6503	SO:0001819	synonymous_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231136C>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.450C>T	7.37:g.127231136C>T						GCC1_ENST00000497650.1_Intron	p.S150S	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN			5	604	+			150					P26437	Silent	SNP	ENST00000000233.5	37	c.450C>T	CCDS34745.1																																																																																				0.577	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		13	192	0	0	0	0.105934	0	13	192				
CCDC17	149483	broad.mit.edu	37	1	46087966	46087966	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:46087966C>T	ENST00000528266.1	-	7	1061	c.914G>A	c.(913-915)cGc>cAc	p.R305H	CCDC17_ENST00000343901.2_Missense_Mutation_p.R273H|CCDC17_ENST00000421127.2_Missense_Mutation_p.R296H|CCDC17_ENST00000464739.1_Intron|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	305										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TGCCTCCAAGCGCCGGTTTTC	0.582																																						ENST00000421127.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(886-888)cGc>cAc		coiled-coil domain containing 17							69.0	61.0	64.0					1																	46087966		2203	4300	6503	SO:0001583	missense	149483							g.chr1:46087966C>T		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.914G>A	1.37:g.46087966C>T	ENSP00000432172:p.Arg305His					CCDC17_ENST00000528266.1_Missense_Mutation_p.R305H|CCDC17_ENST00000464739.1_Intron|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.R273H	p.R296H	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN			7	1030	-	Acute lymphoblastic leukemia(166;0.155)		305					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	c.887G>A	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467636	0.63625	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.23147	1.93;1.93;1.92	5.0	2.91	0.33838	.	0.329703	0.29431	N	0.012174	T	0.34890	0.0913	L	0.42245	1.32	0.31761	N	0.633384	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.64687	0.878;0.928;0.928	T	0.35699	-0.9778	10	0.59425	D	0.04	-8.1443	7.0049	0.24830	0.2265:0.6818:0.0:0.0917	.	305;296;273	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	H	296;273;305	ENSP00000389415:R296H;ENSP00000341451:R273H;ENSP00000432172:R305H	ENSP00000341451:R273H	R	-	2	0	CCDC17	45860553	0.221000	0.23642	0.998000	0.56505	0.516000	0.34256	0.658000	0.24979	1.236000	0.43740	0.655000	0.94253	CGC		0.582	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		10	25	0	0	0	0.069234	0	10	25				
RYR2	6262	broad.mit.edu	37	1	237895442	237895442	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:237895442G>A	ENST00000366574.2	+	78	11349	c.11032G>A	c.(11032-11034)Gag>Aag	p.E3678K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662K|RYR2_ENST00000360064.6_Missense_Mutation_p.E3676K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					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)	p.E3676*(1)		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)			AGCTTTAACAGAGAAATGGTA	0.453																																						ENST00000366574.2																			1	Substitution - Nonsense(1)	p.E3676*(1)	lung(1)	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.(11032-11034)Gag>Aag		ryanodine receptor 2 (cardiac)							85.0	85.0	85.0					1																	237895442		1848	4096	5944	SO:0001583	missense	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.chr1:237895442G>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.11032G>A	1.37:g.237895442G>A	ENSP00000355533:p.Glu3678Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.E3662K|RYR2_ENST00000360064.6_Missense_Mutation_p.E3676K	p.E3678K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		78	11349	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3678					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11032G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918791	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97455	-4.39;-4.36;-4.38	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	D	0.98611	0.9535	M	0.84948	2.725	0.80722	D	1	D;D	0.71674	0.998;0.985	D;P	0.78314	0.991;0.718	D	0.99482	1.0948	10	0.87932	D	0	-19.5876	19.6547	0.95831	0.0:0.0:1.0:0.0	.	633;3678	B4DGV4;Q92736	.;RYR2_HUMAN	K	3678;3676;3662;633	ENSP00000355533:E3678K;ENSP00000353174:E3676K;ENSP00000443798:E3662K	ENSP00000353174:E3676K	E	+	1	0	RYR2	235962065	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	9.485000	0.97942	2.661000	0.90470	0.655000	0.94253	GAG		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	74	0	0	0	0.080935	0	11	74				
PDE2A	5138	broad.mit.edu	37	11	72292993	72292993	+	Splice_Site	SNP	T	T	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:72292993T>C	ENST00000334456.5	-	22	2097		c.e22-2		RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000418754.2_Splice_Site|PDE2A_ENST00000376450.3_Splice_Site|PDE2A_ENST00000544570.1_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CAGGATGGCCTGGAGAGGGCA	0.567																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.e22-2		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						56.0	57.0	57.0					11																	72292993		2200	4293	6493	SO:0001630	splice_region_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292993T>C	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1852-2A>G	11.37:g.72292993T>C						PDE2A_ENST00000376450.3_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000418754.2_Splice_Site|PDE2A_ENST00000544570.1_Splice_Site		NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		22	2097	-								B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Splice_Site	SNP	ENST00000334456.5	37		CCDS8216.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905001	0.72868	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000441209;ENST00000542223	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0043	0.58694	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE2A	71970641	1.000000	0.71417	0.988000	0.46212	0.926000	0.56050	7.237000	0.78164	2.105000	0.64084	0.460000	0.39030	.		0.567	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599	Intron	3	65	0	0	0	0.150653	0	3	65				
GPR179	440435	broad.mit.edu	37	17	36491542	36491542	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:36491542G>A	ENST00000342292.4	-	6	1358	c.1338C>T	c.(1336-1338)atC>atT	p.I446I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	446					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCGAAGAGCGATGCAGCGGA	0.547																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1336-1338)atC>atT		G protein-coupled receptor 179							80.0	87.0	85.0					17																	36491542		2051	4200	6251	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36491542G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1338C>T	17.37:g.36491542G>A							p.I446I	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			6	1358	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	446						Silent	SNP	ENST00000342292.4	37	c.1338C>T	CCDS42308.1																																																																																				0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			15	63	0	0	0	0.175082	0	15	63				
EPHX2	2053	broad.mit.edu	37	8	27398085	27398085	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:27398085A>G	ENST00000521400.1	+	15	1721	c.1291A>G	c.(1291-1293)Aat>Gat	p.N431D	EPHX2_ENST00000517536.1_Missense_Mutation_p.N248D|EPHX2_ENST00000521780.1_Missense_Mutation_p.N365D|EPHX2_ENST00000380476.3_Missense_Mutation_p.N378D|EPHX2_ENST00000518379.1_Missense_Mutation_p.N399D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	431	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		ACTTTTTGTAAATAGCCCAGA	0.502																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1291-1293)Aat>Gat		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						77.0	81.0	80.0					8																	27398085		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27398085A>G	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1291A>G	8.37:g.27398085A>G	ENSP00000430269:p.Asn431Asp					EPHX2_ENST00000518379.1_Missense_Mutation_p.N399D|EPHX2_ENST00000517536.1_Missense_Mutation_p.N248D|EPHX2_ENST00000380476.3_Missense_Mutation_p.N378D|EPHX2_ENST00000521780.1_Missense_Mutation_p.N365D	p.N431D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	15	1721	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	431			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.1291A>G	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	A	9.389	1.075129	0.20227	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.8	-5.54	0.02544	Alpha/beta hydrolase fold-1 (1);	2.457920	0.01178	N	0.007028	T	0.41858	0.1177	N	0.10733	0.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.003	T	0.35773	-0.9775	10	0.39692	T	0.17	16.659	10.792	0.46438	0.2762:0.1408:0.583:0.0	.	399;431	E5RFU2;P34913	.;HYES_HUMAN	D	431;248;365;378;378;399	ENSP00000430269:N431D;ENSP00000428875:N248D;ENSP00000430302:N365D;ENSP00000369843:N378D;ENSP00000427956:N399D	ENSP00000369843:N378D	N	+	1	0	EPHX2	27454002	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-2.252000	0.01185	-1.058000	0.03197	0.379000	0.24179	AAT		0.502	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			43	91	0	0	0	0.139131	0	43	91				
PCDHB13	56123	broad.mit.edu	37	5	140595079	140595079	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140595079G>A	ENST00000341948.4	+	1	1571	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.602																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1384-1386)Gag>Aag									115.0	119.0	118.0					5																	140595079		2203	4299	6502	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595079G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1384G>A	5.37:g.140595079G>A	ENSP00000345491:p.Glu462Lys						p.E462K	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1571	+			462			Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1384G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	26.3	4.727527	0.89390	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.76316	-1.01	3.5	3.5	0.40072	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93370	0.7886	H	0.99626	4.665	0.49299	D	0.999775	D	0.89917	1.0	D	0.97110	1.0	D	0.96297	0.9218	9	0.87932	D	0	.	15.0196	0.71621	0.0:0.0:1.0:0.0	.	462	Q9Y5F0	PCDBD_HUMAN	K	462	ENSP00000345491:E462K	ENSP00000345491:E462K	E	+	1	0	PCDHB13	140575263	1.000000	0.71417	0.834000	0.33040	0.622000	0.37654	9.770000	0.98971	1.671000	0.50874	0.298000	0.19748	GAG		0.602	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		27	186	0	0	0	0.153744	0	27	186				
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1498-1500)aCa>aAa		zinc finger protein 623							77.0	77.0	77.0					8																	144733541		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733541C>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1499C>A	8.37:g.144733541C>A	ENSP00000445979:p.Thr500Lys					ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	p.T500K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1588	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		500					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1499C>A	CCDS34957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.581994|1.581994	0.28180|0.28180	.|.	.|.	ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	.|T;T;T	.|0.60424	.|0.19;0.19;0.19	4.3|4.3	3.4|3.4	0.38934|0.38934	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.35038|0.35038	0.0918|0.0918	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.14023	.|0.01	T|T	0.09684|0.09684	-1.0663|-1.0663	6|8	0.72032|.	D|.	0.01|.	-1.5887|-1.5887	7.2014|7.2014	0.25883|0.25883	0.0:0.7908:0.0:0.2092|0.0:0.7908:0.0:0.2092	.|.	.|500	.|O75123	.|ZN623_HUMAN	K|K	460|460;460;500;500	.|ENSP00000435232:T460K;ENSP00000411139:T460K;ENSP00000445979:T500K	ENSP00000330358:Q460K|.	Q|T	+|+	1|2	0|0	ZNF623|ZNF623	144804684|144804684	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.029000|0.029000	0.11900|0.11900	1.225000|1.225000	0.32551|0.32551	2.115000|2.115000	0.64714|0.64714	0.491000|0.491000	0.48974|0.48974	CAA|ACA		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		8	287	1	0	0.00307968	0.038147	0.00344364	8	287				
GLT6D1	360203	broad.mit.edu	37	9	138516492	138516492	+	Silent	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:138516492C>T	ENST00000371763.1	-	5	535	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	94					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGTAGGAACGGCCTCAGGT	0.418																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(280-282)ccG>ccA		glycosyltransferase 6 domain containing 1							56.0	52.0	53.0					9																	138516492		1919	4121	6040	SO:0001819	synonymous_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516492C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.282G>A	9.37:g.138516492C>T							p.P94P	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	535	-		Myeloproliferative disorder(178;0.0821)	94						Silent	SNP	ENST00000371763.1	37	c.282G>A	CCDS43900.1																																																																																				0.418	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		22	84	0	0	0	0.083992	0	22	84				
FBXL18	80028	broad.mit.edu	37	7	5521496	5521496	+	Silent	SNP	G	G	A	rs561424661		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:5521496G>A	ENST00000382368.3	-	5	2190	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCCGGATGACGTCGGTCAGGC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16294	0.0		0.0	False		,,,				2504	0.0					ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(2065-2067)gaC>gaT		F-box and leucine-rich repeat protein 18							87.0	98.0	95.0					7																	5521496		2051	4186	6237	SO:0001819	synonymous_variant	80028							g.chr7:5521496G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2067C>T	7.37:g.5521496G>A							p.D689D	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2190	-		Ovarian(82;0.0607)	0					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.2067C>T	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	G	8.417	0.845418	0.16963	.	.	ENSG00000155034	ENST00000297035	.	.	.	4.83	-7.43	0.01383	.	.	.	.	.	T	0.64962	0.2646	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	T	0.73088	-0.4093	5	0.87932	D	0	.	10.8065	0.46520	0.7519:0.0925:0.1555:0.0	.	.	.	.	C	249	.	ENSP00000297035:R249C	R	-	1	0	FBXL18	5488022	0.019000	0.18553	0.038000	0.18304	0.957000	0.61999	-0.807000	0.04520	-1.489000	0.01844	-0.350000	0.07774	CGT		0.617	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		64	161	0	0	0	0.139131	0	64	161				
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L|AQP7_ENST00000541274.1_Silent_p.P123P			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622																																						ENST00000537089.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(487-489)cCa>cTa		aquaporin 7							43.0	51.0	48.0					9																	33385626		2201	4299	6500	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385626G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.488C>T	9.37:g.33385626G>A	ENSP00000441619:p.Pro163Leu					AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L	p.P163L			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	806	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.488C>T		.	.	.	.	.	.	.	.	.	.	g	16.76	3.211768	0.58452	.	.	ENSG00000165269	ENST00000537089;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D	0.94758	-3.09;-2.02;-2.01;-3.51	4.57	1.49	0.22878	.	.	.	.	.	D	0.95993	0.8695	.	.	.	0.09310	N	0.999995	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.973	D	0.88018	0.2767	8	0.87932	D	0	.	5.5898	0.17295	0.1855:0.0:0.6552:0.1593	.	254;255	Q5T5M0;B7Z4U2	.;.	L	163;254;255;191	ENSP00000441619:P163L;ENSP00000368820:P254L;ENSP00000439534:P255L;ENSP00000368817:P191L	ENSP00000368817:P191L	P	-	2	0	AQP7	33375626	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	0.295000	0.19065	0.660000	0.30964	0.550000	0.68814	CCA		0.622	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	136	0	0	0	0.021553	0	5	136				
CLEC18C	283971	broad.mit.edu	37	16	70211272	70211272	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:70211272G>A	ENST00000569347.2	+	3	599	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000314151.8_Silent_p.A115A|CLEC18C_ENST00000536907.2_Silent_p.A115A	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	115	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						TGCTGCCCGCGGGCTTGGCGT	0.662																																						ENST00000569347.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(343-345)gcG>gcA		C-type lectin domain family 18, member C							53.0	60.0	58.0					16																	70211272		2196	4299	6495	SO:0001819	synonymous_variant	283971							g.chr16:70211272G>A	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.345G>A	16.37:g.70211272G>A						CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000536907.2_Silent_p.A115A|CLEC18C_ENST00000314151.8_Silent_p.A115A	p.A115A	NM_173619.2	NP_775890.2					3	599	+								Q8IUW8	Silent	SNP	ENST00000569347.2	37	c.345G>A	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	g	0.224	-1.026347	0.02045	.	.	ENSG00000157335	ENST00000539438	.	.	.	4.32	-1.05	0.10036	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	T	0.28396	-1.0045	5	0.28530	T	0.3	.	4.3121	0.10976	0.3163:0.0:0.5259:0.1578	.	.	.	.	Q	112	.	ENSP00000445424:R112Q	R	+	2	0	CLEC18C	68768773	0.000000	0.05858	0.014000	0.15608	0.009000	0.06853	-1.150000	0.03178	-0.011000	0.14247	0.298000	0.19748	CGG		0.662	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		4	128	0	0	0	0.029380	0	4	128				
C19orf66	55337	broad.mit.edu	37	19	10202783	10202783	+	Silent	SNP	G	G	A			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:10202783G>A	ENST00000253110.11	+	8	979	c.681G>A	c.(679-681)aaG>aaA	p.K227K	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Silent_p.K176K|C19orf66_ENST00000591813.1_Silent_p.K191K	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	227										large_intestine(3)|skin(1)	4						CTCACCCCAAGAGCCGGAAGC	0.642																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(526-528)aaG>aaA		chromosome 19 open reading frame 66							88.0	106.0	100.0					19																	10202783		2061	4199	6260	SO:0001819	synonymous_variant	55337							g.chr19:10202783G>A		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.681G>A	19.37:g.10202783G>A						C19orf66_ENST00000591813.1_Silent_p.K191K|C19orf66_ENST00000253110.11_Silent_p.K227K	p.K176K			Q9NUL5	CS066_HUMAN			8	1005	+			227					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Silent	SNP	ENST00000253110.11	37	c.528G>A	CCDS45957.1																																																																																				0.642	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		29	139	0	0	0	0.134883	0	29	139				
MYH3	4621	broad.mit.edu	37	17	10558189	10558189	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:10558189C>T	ENST00000583535.1	-	3	280	c.193G>A	c.(193-195)Gag>Aag	p.E65K	MYH3_ENST00000226209.7_Missense_Mutation_p.E65K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	65					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTTGTCCTCAGTTTCCACA	0.537																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(193-195)Gag>Aag		myosin, heavy chain 3, skeletal muscle, embryonic							257.0	227.0	237.0					17																	10558189		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10558189C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.193G>A	17.37:g.10558189C>T	ENSP00000464317:p.Glu65Lys					MYH3_ENST00000226209.7_Missense_Mutation_p.E65K	p.E65K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			3	280	-			65			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.193G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697118	0.30142	.	.	ENSG00000109063	ENST00000226209	T	0.81163	-1.46	5.49	5.49	0.81192	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.69151	0.3079	N	0.11698	0.16	0.33336	D	0.569204	B	0.23058	0.079	B	0.34536	0.185	T	0.65957	-0.6042	9	0.11794	T	0.64	.	15.8962	0.79336	0.0:0.8649:0.1351:0.0	.	65	P11055	MYH3_HUMAN	K	65	ENSP00000226209:E65K	ENSP00000226209:E65K	E	-	1	0	MYH3	10498914	0.126000	0.22350	0.793000	0.32043	0.372000	0.29890	1.357000	0.34090	2.865000	0.98341	0.655000	0.94253	GAG		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		84	300	0	0	0	0.139131	0	84	300				
ASAP3	55616	broad.mit.edu	37	1	23759729	23759729	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:23759729C>T	ENST00000336689.3	-	22	2208	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	ASAP3_ENST00000437606.2_Missense_Mutation_p.A713T|ASAP3_ENST00000495646.1_Missense_Mutation_p.A226T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	722					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CTCCCACTGGCCCAGTGAGCC	0.642																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2164-2166)Gcc>Acc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							54.0	60.0	58.0					1																	23759729		2203	4299	6502	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23759729C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2164G>A	1.37:g.23759729C>T	ENSP00000338769:p.Ala722Thr					ASAP3_ENST00000437606.2_Missense_Mutation_p.A713T|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.A226T	p.A722T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			22	2208	-			722					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.2164G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339073	0.41398	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.52754	2.07;0.66;0.65	4.69	-0.514	0.11958	.	37.625000	0.00166	N	0.000000	T	0.29556	0.0737	N	0.12182	0.205	0.18873	N	0.999984	B;B;B;B	0.10296	0.003;0.001;0.003;0.001	B;B;B;B	0.08055	0.003;0.003;0.002;0.001	T	0.14980	-1.0453	10	0.14252	T	0.57	.	8.5396	0.33384	0.0:0.4636:0.0:0.5364	.	713;612;245;722	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	T	245;226;722;49;713	ENSP00000436150:A226T;ENSP00000338769:A722T;ENSP00000408826:A713T	ENSP00000338769:A722T	A	-	1	0	ASAP3	23632316	0.182000	0.23173	0.187000	0.23214	0.234000	0.25298	-0.325000	0.07976	-0.164000	0.10927	0.561000	0.74099	GCC		0.642	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		39	148	0	0	0	0.074837	0	39	148				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	71	0	0	0	0.150653	0	4	71				
GSDMA	284110	broad.mit.edu	37	17	38133088	38133088	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:38133088A>G	ENST00000301659.4	+	12	1233	c.1115A>G	c.(1114-1116)cAg>cGg	p.Q372R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	372					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACGATGGAACAGAACTTCCTG	0.517																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1114-1116)cAg>cGg		gasdermin A							152.0	151.0	152.0					17																	38133088		1921	4125	6046	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133088A>G	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1115A>G	17.37:g.38133088A>G	ENSP00000301659:p.Gln372Arg						p.Q372R	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1233	+			372					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1115A>G	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557334	0.27827	.	.	ENSG00000167914	ENST00000301659	T	0.27104	1.69	5.61	3.38	0.38709	.	0.502303	0.20026	N	0.100818	T	0.29652	0.0740	M	0.80982	2.52	0.24686	N	0.993339	B	0.27910	0.193	B	0.27608	0.081	T	0.21008	-1.0258	10	0.42905	T	0.14	-6.8221	8.037	0.30499	0.8373:0.0:0.1627:0.0	.	372	Q96QA5	GSDMA_HUMAN	R	372	ENSP00000301659:Q372R	ENSP00000301659:Q372R	Q	+	2	0	GSDMA	35386614	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	2.466000	0.45084	0.406000	0.25560	0.459000	0.35465	CAG		0.517	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		30	183	0	0	0	0.134883	0	30	183				
WDR78	79819	broad.mit.edu	37	1	67390434	67390435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:67390434_67390435insC	ENST00000371026.3	-	1	135_136	c.80_81insG	c.(79-81)ggcfs	p.G27fs	MIER1_ENST00000355977.6_5'Flank|MIER1_ENST00000371014.1_5'Flank|MIER1_ENST00000371016.1_5'Flank|WDR78_ENST00000371022.3_Frame_Shift_Ins_p.G27fs|MIER1_ENST00000371012.2_5'Flank|MIER1_ENST00000371018.3_5'Flank|MIER1_ENST00000401041.1_5'Flank|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Frame_Shift_Ins_p.G27fs|MIER1_ENST00000357692.2_5'Flank	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	27					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCTTTTTTTGGCCGCCTCTGAA	0.639																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(79-81)gcafs		WD repeat domain 78																																				SO:0001589	frameshift_variant	79819							g.chr1:67390434_67390435insC	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.81dupG	1.37:g.67390436_67390436dupC	ENSP00000360065:p.Gly27fs					WDR78_ENST00000371022.3_Frame_Shift_Ins_p.A27fs|WDR78_ENST00000371023.3_Frame_Shift_Ins_p.A27fs|WDR78_ENST00000431318.1_5'UTR	p.A27fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			1	135_136	-			27					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Frame_Shift_Ins	INS	ENST00000371026.3	37	c.80_81insG	CCDS635.1																																																																																				0.639	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		7	231						7	231	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			8	47						8	47	---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50380780	50380781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:50380780_50380781insC	ENST00000231749.3	-	5	1739_1740	c.467_468insG	c.(466-468)ggcfs	p.G156fs	ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.G156fs|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	156					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTCAGGGGGGCCACCACAGCC	0.604										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(466-468)gccfs		zinc finger, MYND-type containing 10																																				SO:0001589	frameshift_variant	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50380780_50380781insC	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.468dupG	3.37:g.50380782_50380782dupC	ENSP00000231749:p.Gly156fs	TSP Lung(30;0.18)				ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.A156fs|ZMYND10-AS1_ENST00000440013.1_RNA	p.A156fs	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	5	1739_1740	-			156					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Frame_Shift_Ins	INS	ENST00000231749.3	37	c.467_468insG	CCDS2825.1																																																																																				0.604	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		7	150						7	150	---	---	---	---
AC007106.1	0	broad.mit.edu	37	4	27984278	27984279	+	lincRNA	DEL	AC	AC	-	rs139213105		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr4:27984278_27984279delAC	ENST00000509666.1	-	0	395																											ataaacactgacacacacacac	0.446																																						ENST00000509666.1																			0																																																			0							g.chr4:27984278_27984279delAC																													4.37:g.27984288_27984289delAC														0	395	-									RNA	DEL	ENST00000509666.1	37																																																																																						0.446	AC007106.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365735.1			3	6						3	6	---	---	---	---
GPSM1	26086	broad.mit.edu	37	9	139244163	139244164	+	Frame_Shift_Ins	INS	-	-	C	rs150964582		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:139244163_139244164insC	ENST00000440944.1	+	11	1623_1624	c.1403_1404insC	c.(1402-1407)ggcagcfs	p.S469fs		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	469	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCCGGGAGGGCAGCCACTCCC	0.708																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1402-1404)gagfs		G-protein signaling modulator 1																																				SO:0001589	frameshift_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139244163_139244164insC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1404dupC	9.37:g.139244164_139244164dupC	ENSP00000392828:p.Ser469fs						p.E468fs	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	11	1623_1624	+		Myeloproliferative disorder(178;0.0821)	468			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Frame_Shift_Ins	INS	ENST00000440944.1	37	c.1403_1404insC	CCDS48055.1																																																																																				0.708	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		5	8						5	8	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000299402.6_In_Frame_Del_p.E162del|APBB1_ENST00000389906.2_In_Frame_Del_p.E162del|APBB1_ENST00000311051.3_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		7	85						7	85	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		8	586						8	586	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T	rs558561555		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)attfs	p.I154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(460-462)tttfs		olfactory receptor, family 6, subfamily C, member 65																																				SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794772_55794773insT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.465dupT	12.37:g.55794777_55794777dupT	ENSP00000368986:p.Ile154fs						p.F154fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	559_560	+			154					B2RNH9	Frame_Shift_Ins	INS	ENST00000379665.2	37	c.460_461insT	CCDS31821.1																																																																																				0.436	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			34	381						34	381	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58158829	58158830	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:58158829_58158830insG	ENST00000228606.4	-	4	963_964	c.754_755insC	c.(754-756)cgcfs	p.R252fs	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	252					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R252C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCGGCAGAGGCGGCCCCAGGGC	0.609											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			1	Substitution - Missense(1)	p.R252C(1)	central_nervous_system(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(754-756)cctfs		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)																																			SO:0001589	frameshift_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158829_58158830insG	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.755dupC	12.37:g.58158831_58158831dupG	ENSP00000228606:p.Arg252fs		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA	p.P252fs	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	963_964	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		252					B2RC61|Q548T3	Frame_Shift_Ins	INS	ENST00000228606.4	37	c.754_755insC	CCDS8954.1																																																																																				0.609	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		11	175						11	175	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Splice_Site|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		8	0						8	0	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			8	432						8	432	---	---	---	---
DENND6B	414918	broad.mit.edu	37	22	50751050	50751051	+	Frame_Shift_Ins	INS	-	-	C	rs146358653		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:50751050_50751051insC	ENST00000413817.3	-	18	1532_1533	c.1461_1462insG	c.(1459-1464)cggtttfs	p.F488fs	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	488					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GACTTGAAAAACCGCCTGTGGG	0.658																																						ENST00000413817.2																			0											c.(1459-1464)cgttttfs		DENN/MADD domain containing 6B																																				SO:0001589	frameshift_variant	414918							g.chr22:50751050_50751051insC	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1462dupG	22.37:g.50751052_50751052dupC	ENSP00000391524:p.Phe488fs						p.RF487fs	NM_001001794.3	NP_001001794.3					18	1532_1533	-								A6X8I5	Frame_Shift_Ins	INS	ENST00000413817.3	37	c.1461_1462insG	CCDS46732.1																																																																																				0.658	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		3	3						3	3	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	lincRNA	INS	-	-	A	rs372497626|rs79055434|rs113013303|rs79929016|rs368331815|rs145002653		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356														2066	0.547285	0.2867	0.4784	3775	,	,		12410	0.4861		0.4493	False		,,,				2504	0.4223					ENST00000604849.1																			0																																																			102723508							g.chrX:53142508_53142509insA																													X.37:g.53142517_53142517dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			5	7						5	7	---	---	---	---
