#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
NLGN4X	57502	broad.mit.edu	37	X	5821237	5821237	+	Silent	SNP	G	G	C	rs146227486		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:5821237G>C	ENST00000381095.3	-	5	2109	c.1482C>G	c.(1480-1482)ccC>ccG	p.P494P	NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000275857.6_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000538097.1_Silent_p.P494P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	494					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P494P(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGACATAGGGGACCTCAT	0.552																																						ENST00000381095.3																			1	Substitution - coding silent(1)	p.P494P(1)	prostate(1)	breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1480-1482)ccC>ccG		neuroligin 4, X-linked		G	,	0,3835		0,0,1632,571	97.0	80.0	86.0		1482,1482	2.9	0.6	X	dbSNP_134	86	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	0,1,4059,2443	CC,CG,GG,G		0.0149,0.0,0.0095	,	494/817,494/817	5821237	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821237G>C	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1482C>G	X.37:g.5821237G>C						NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000275857.6_Silent_p.P494P|NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P	p.P494P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2109	-			494					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1482C>G	CCDS14126.1																																																																																				0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		11	72	0	0	0	0.361761	0	11	72				
DMD	1756	broad.mit.edu	37	X	32380926	32380926	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:32380926T>C	ENST00000357033.4	-	37	5510	c.5304A>G	c.(5302-5304)tcA>tcG	p.S1768S	DMD_ENST00000378677.2_Silent_p.S1764S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1768	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATTCTGTGTGAAATGGCTG	0.478																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5302-5304)tcA>tcG		dystrophin							196.0	152.0	167.0					X																	32380926		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380926T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5304A>G	X.37:g.32380926T>C						DMD_ENST00000378677.2_Silent_p.S1764S	p.S1768S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			37	5510	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1768			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.5304A>G	CCDS14233.1																																																																																				0.478	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	150	0	0	0	0.217242	0	5	150				
SEPT4	5414	broad.mit.edu	37	17	56603077	56603077	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:56603077G>C	ENST00000317268.3	-	4	693	c.517C>G	c.(517-519)Cgg>Ggg	p.R173G	SEPT4_ENST00000457347.2_Missense_Mutation_p.R188G|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165G|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55G|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26G|SEPT4_ENST00000317256.6_Missense_Mutation_p.R154G|SEPT4_ENST00000580791.1_5'Flank|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74G|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74G|SEPT4_ENST00000426861.1_Missense_Mutation_p.R154G|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.R154G	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	173	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGTTTCCGGTCCCGGTAC	0.522																																						ENST00000426861.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(460-462)Cgg>Ggg		septin 4							109.0	96.0	100.0					17																	56603077		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56603077G>C	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.517C>G	17.37:g.56603077G>C	ENSP00000321674:p.Arg173Gly					SEPT4_ENST00000457347.2_Missense_Mutation_p.R188G|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74G|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317268.3_Missense_Mutation_p.R173G|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165G|SEPT4_ENST00000393086.1_Missense_Mutation_p.R154G|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74G|SEPT4_ENST00000317256.6_Missense_Mutation_p.R154G|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55G|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26G	p.R154G	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			4	546	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		173					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.460C>G	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043096	0.36085	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.94	4.94	0.65067	.	0.058893	0.64402	D	0.000003	T	0.54822	0.1882	N	0.17901	0.54	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.999;0.979;0.987;1.0;0.523;1.0	D;D;P;P;D;P;D	0.97110	0.999;0.996;0.866;0.906;0.999;0.539;1.0	T	0.60146	-0.7320	10	0.87932	D	0	.	16.0453	0.80717	0.0:0.0:1.0:0.0	.	165;188;26;154;154;26;173	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	G	165;187;154;173;154;154	ENSP00000414779:R165G;ENSP00000321071:R154G;ENSP00000321674:R173G;ENSP00000376801:R154G;ENSP00000402348:R154G	ENSP00000321071:R154G	R	-	1	2	SEPT4	53958076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.986000	0.29590	2.726000	0.93360	0.655000	0.94253	CGG		0.522	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		8	103	0	0	0	0.335167	0	8	103				
SLC25A40	55972	broad.mit.edu	37	7	87476439	87476439	+	Splice_Site	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:87476439T>A	ENST00000341119.5	-	8	804		c.e8-2			NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CTGCACCAACTAATACAAACA	0.303																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.e8-2		solute carrier family 25, member 40							110.0	115.0	114.0					7																	87476439		2203	4300	6503	SO:0001630	splice_region_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476439T>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.458-2A>T	7.37:g.87476439T>A								NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			8	804	-	Esophageal squamous(14;0.00202)							A8K483|D6W5P6|Q53GB1|Q9UHR1	Splice_Site	SNP	ENST00000341119.5	37		CCDS5610.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318205	0.81469	.	.	ENSG00000075303	ENST00000341119	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6902	0.77446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A40	87314375	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.864000	0.75494	2.115000	0.64714	0.528000	0.53228	.		0.303	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	Intron	6	312	0	0	0	0.248553	0	6	312				
CCNJL	79616	broad.mit.edu	37	5	159680605	159680605	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr5:159680605G>T	ENST00000393977.3	-	7	1373	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus (GO:0005634)		p.A363D(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGGTGGGCCTGCAAGGA	0.667																																						ENST00000393977.3																			2	Substitution - Missense(2)	p.A363D(2)	endometrium(1)|kidney(1)	endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1087-1089)gCc>gAc		cyclin J-like							53.0	60.0	57.0					5																	159680605		2044	4187	6231	SO:0001583	missense	79616					nucleus		g.chr5:159680605G>T	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1088C>A	5.37:g.159680605G>T	ENSP00000377547:p.Ala363Asp					CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D|CCNJL_ENST00000377503.2_5'UTR	p.A363D	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1373	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	363					Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.1088C>A	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939150	0.18281	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31769	1.89;1.48	5.0	4.13	0.48395	.	0.792845	0.11837	N	0.524672	T	0.26991	0.0661	L	0.47716	1.5	0.80722	D	1	P;P	0.39216	0.664;0.498	B;B	0.36335	0.157;0.222	T	0.01863	-1.1258	10	0.24483	T	0.36	-12.6043	11.4363	0.50070	0.0854:0.0:0.9146:0.0	.	315;363	B4DZA8;Q8IV13	.;CCNJL_HUMAN	D	363;315	ENSP00000377547:A363D;ENSP00000257536:A315D	ENSP00000257536:A315D	A	-	2	0	CCNJL	159613183	0.995000	0.38212	0.944000	0.38274	0.174000	0.22865	2.476000	0.45171	1.099000	0.41499	0.655000	0.94253	GCC		0.667	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		8	134	1	0	0.0381472	0.278610	0.0404514	8	134				
ITGA6	3655	broad.mit.edu	37	2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:173349859G>C	ENST00000264106.6	+	14	2041	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000375221.2_Missense_Mutation_p.R613T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	613					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAATATCAGAGATAAACTG	0.428																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(1837-1839)aGa>aCa		integrin, alpha 6							86.0	83.0	84.0					2																	173349859		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173349859G>C		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1838G>C	2.37:g.173349859G>C	ENSP00000264106:p.Arg613Thr					ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|AC093818.1_ENST00000442417.1_RNA	p.R613T			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		14	2041	+			613					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1838G>C		.	.	.	.	.	.	.	.	.	.	G	16.75	3.208641	0.58343	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	.	0.123903	0.64402	D	0.000001	T	0.67353	0.2884	M	0.74389	2.26	0.49915	D	0.999834	P;P;P;P	0.51933	0.486;0.949;0.734;0.734	B;P;P;P	0.58928	0.356;0.848;0.535;0.571	T	0.70502	-0.4854	10	0.87932	D	0	.	11.382	0.49763	0.1136:0.0:0.8864:0.0	.	569;613;574;574	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	T	455;574;613;613;569;574;613;569	ENSP00000386614:R455T;ENSP00000264107:R574T;ENSP00000264106:R613T;ENSP00000364369:R613T;ENSP00000341078:R569T;ENSP00000386896:R574T;ENSP00000406694:R613T;ENSP00000394169:R569T	ENSP00000264106:R613T	R	+	2	0	ITGA6	173058105	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.690000	0.47001	2.735000	0.93741	0.655000	0.94253	AGA		0.428	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				6	171	0	0	0	0.217242	0	6	171				
FAM98C	147965	broad.mit.edu	37	19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:38895746A>T	ENST00000252530.5	+	4	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	183								p.H183L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAGTTGCATGCTAAGGTA	0.627																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.H183L(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(547-549)cAt>cTt		family with sequence similarity 98, member C							24.0	30.0	28.0					19																	38895746		2071	4221	6292	SO:0001583	missense	147965							g.chr19:38895746A>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.548A>T	19.37:g.38895746A>T	ENSP00000252530:p.His183Leu					FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L	p.H183L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	567	+	all_cancers(60;3.95e-06)		183					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.548A>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907085	0.52333	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.42513	0.97;0.97	4.72	4.72	0.59763	.	0.144723	0.31922	N	0.006841	T	0.34919	0.0914	L	0.46741	1.465	0.40491	D	0.980544	P;B	0.43352	0.804;0.166	B;B	0.40066	0.318;0.063	T	0.14755	-1.0461	10	0.29301	T	0.29	2.4985	10.5727	0.45209	1.0:0.0:0.0:0.0	.	183;183	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	L	183	ENSP00000252530:H183L;ENSP00000340348:H183L	ENSP00000252530:H183L	H	+	2	0	FAM98C	43587586	0.987000	0.35691	0.996000	0.52242	0.969000	0.65631	2.791000	0.47829	1.981000	0.57761	0.456000	0.33151	CAT		0.627	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		16	66	0	0	0	0.539581	0	16	66				
SNX31	169166	broad.mit.edu	37	8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:101589258G>A	ENST00000311812.2	-	13	1366	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	406					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.Q406*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTTTGTTGAATGTGGTAT	0.343																																						ENST00000311812.2																			1	Substitution - Nonsense(1)	p.Q406*(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(1216-1218)Caa>Taa		sorting nexin 31							239.0	230.0	233.0					8																	101589258		2203	4300	6503	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101589258G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1216C>T	8.37:g.101589258G>A	ENSP00000312368:p.Gln406*					SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	p.Q406*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		13	1366	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		406					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.1216C>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695200	0.68386	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	.	.	.	5.87	4.99	0.66335	.	1.094710	0.06927	N	0.810409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	4.9795	13.4033	0.60896	0.0:0.1573:0.8427:0.0	.	.	.	.	X	406;307	.	ENSP00000312368:Q406X	Q	-	1	0	SNX31	101658434	0.122000	0.22280	0.021000	0.16686	0.412000	0.31113	2.253000	0.43205	1.604000	0.50143	0.655000	0.94253	CAA		0.343	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		52	334	0	0	0	0.870114	0	52	334				
HTR6	3362	broad.mit.edu	37	1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:20005147C>A	ENST00000289753.1	+	2	1269	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	268					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GAAGGCCAGCCTGACGCTGGG	0.622																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(802-804)Ctg>Atg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						77.0	62.0	67.0					1																	20005147		2203	4300	6503	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005147C>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.802C>A	1.37:g.20005147C>A	ENSP00000289753:p.Leu268Met						p.L268M	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1269	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	268					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.802C>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348257	0.61183	.	.	ENSG00000158748	ENST00000289753	T	0.37915	1.17	5.22	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.46870	0.1415	L	0.54323	1.7	0.24638	N	0.993589	D	0.76494	0.999	D	0.75020	0.985	T	0.16928	-1.0386	9	.	.	.	.	6.2579	0.20884	0.1479:0.6446:0.0:0.2075	.	268	P50406	5HT6R_HUMAN	M	268	ENSP00000289753:L268M	.	L	+	1	2	HTR6	19877734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.977000	0.40589	0.657000	0.30906	0.561000	0.74099	CTG		0.622	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		4	105	1	0	0.00024832	0.150653	0.000270583	4	105				
IPO8	10526	broad.mit.edu	37	12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818751T>A	ENST00000256079.4	-	12	1588	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	417					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.Y417F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGATTTGATAACAGAATGC	0.378																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.Y417F(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1249-1251)tAt>tTt		importin 8							93.0	94.0	94.0					12																	30818751		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818751T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1250A>T	12.37:g.30818751T>A	ENSP00000256079:p.Tyr417Phe					IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	p.Y417F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			12	1588	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		417					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1250A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593798	0.86953	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.66815	-0.23;-0.23	4.52	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.055492	0.64402	D	0.000001	T	0.69682	0.3138	L	0.56769	1.78	0.46061	D	0.998846	P;P	0.45212	0.741;0.853	P;P	0.50708	0.648;0.648	T	0.66192	-0.5985	10	0.19590	T	0.45	-17.8414	14.2775	0.66189	0.0:0.0:0.0:1.0	.	212;417	B7Z7M3;O15397	.;IPO8_HUMAN	F	417;212	ENSP00000256079:Y417F;ENSP00000444520:Y212F	ENSP00000256079:Y417F	Y	-	2	0	IPO8	30710018	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.477000	0.81069	2.019000	0.59389	0.477000	0.44152	TAT		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		28	120	0	0	0	0.717897	0	28	120				
OR4S2	219431	broad.mit.edu	37	11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:55418545C>G	ENST00000312422.2	+	1	166	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTAAGTCACCCATGTATTT	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(166-168)Ccc>Gcc		olfactory receptor, family 4, subfamily S, member 2							243.0	192.0	210.0					11																	55418545		2181	4046	6227	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418545C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.166C>G	11.37:g.55418545C>G	ENSP00000310337:p.Pro56Ala						p.P56A	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	166	+		all_epithelial(135;0.0748)	56					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.166C>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077149	0.55753	.	.	ENSG00000174982	ENST00000312422	T	0.02015	4.5	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.18509	0.0444	M	0.91872	3.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.01378	-1.1370	10	0.72032	D	0.01	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	A	56	ENSP00000310337:P56A	ENSP00000310337:P56A	P	+	1	0	OR4S2	55175121	1.000000	0.71417	0.887000	0.34795	0.119000	0.20118	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		7	488	0	0	0	0.248553	0	7	488				
DACT1	51339	broad.mit.edu	37	14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:59112942A>G	ENST00000335867.4	+	4	1625	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	DACT1_ENST00000395153.3_Missense_Mutation_p.E497G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	534					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.E534G(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCGTGGAAGAGAGGCCTGCC	0.592																																						ENST00000395153.3																			1	Substitution - Missense(1)	p.E534G(1)	prostate(1)	endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1489-1491)gAg>gGg		dishevelled-binding antagonist of beta-catenin 1							49.0	59.0	56.0					14																	59112942		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112942A>G	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1601A>G	14.37:g.59112942A>G	ENSP00000337439:p.Glu534Gly					DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G|DACT1_ENST00000395151.3_Missense_Mutation_p.E253G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G	p.E497G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1637	+			534					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1490A>G	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.552105	0.45487	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.62232	0.69;0.69;0.04;0.04;0.69	4.92	3.74	0.42951	.	0.359984	0.30168	N	0.010245	T	0.61286	0.2335	M	0.65975	2.015	0.35490	D	0.798895	P;P	0.40660	0.675;0.726	B;B	0.43478	0.344;0.421	T	0.69285	-0.5185	10	0.72032	D	0.01	-8.6379	7.5438	0.27755	0.7123:0.147:0.0:0.1407	.	497;534	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	G	253;253;497;534;253	ENSP00000451598:E253G;ENSP00000378581:E253G;ENSP00000378582:E497G;ENSP00000337439:E534G;ENSP00000442850:E253G	ENSP00000337439:E534G	E	+	2	0	DACT1	58182695	1.000000	0.71417	0.497000	0.27552	0.731000	0.41821	3.788000	0.55446	0.691000	0.31592	0.460000	0.39030	GAG		0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		26	161	0	0	0	0.717897	0	26	161				
GPRIN3	285513	broad.mit.edu	37	4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:90170165C>T	ENST00000609438.1	-	2	1615	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	366								p.G366E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTGTGGCTCCCACTGCTGTG	0.582																																						ENST00000333209.3																			1	Substitution - Missense(1)	p.G366E(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1096-1098)gGg>gAg		GPRIN family member 3							65.0	60.0	62.0					4																	90170165		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170165C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1097G>A	4.37:g.90170165C>T	ENSP00000476603:p.Gly366Glu						p.G366E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1615	-		Hepatocellular(203;0.114)	366					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1097G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839143	0.51057	.	.	ENSG00000185477	ENST00000333209	T	0.12774	2.65	4.99	1.13	0.20643	.	0.753357	0.10915	N	0.620102	T	0.07052	0.0179	N	0.24115	0.695	0.09310	N	1	B	0.32365	0.367	B	0.27262	0.078	T	0.33675	-0.9859	10	0.33141	T	0.24	-2.6278	2.9214	0.05770	0.3994:0.2799:0.2376:0.0831	.	366	Q6ZVF9	GRIN3_HUMAN	E	366	ENSP00000328672:G366E	ENSP00000328672:G366E	G	-	2	0	GPRIN3	90389188	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.432000	0.21461	0.661000	0.30985	0.655000	0.94253	GGG		0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		34	158	0	0	0	0.769981	0	34	158				
STAT4	6775	broad.mit.edu	37	2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:191897839T>G	ENST00000392320.2	-	21	2203	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	STAT4_ENST00000358470.4_Missense_Mutation_p.K630T|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	630	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAACCGGCCTTTATTGTAGGG	0.423																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1888-1890)aAa>aCa		signal transducer and activator of transcription 4							90.0	92.0	91.0					2																	191897839		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897839T>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1889A>C	2.37:g.191897839T>G	ENSP00000376134:p.Lys630Thr					STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	p.K630T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2203	-			630			SH2.		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1889A>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784991	0.90282	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96554	-4.05;-4.05	5.38	5.38	0.77491	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	L	0.56396	1.775	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.98348	1.0542	10	0.87932	D	0	-54.9658	15.6918	0.77461	0.0:0.0:0.0:1.0	.	539;630;630	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	T	630	ENSP00000351255:K630T;ENSP00000376134:K630T	ENSP00000351255:K630T	K	-	2	0	STAT4	191606084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.159000	0.67721	0.528000	0.53228	AAA		0.423	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		3	128	0	0	0	0.115264	0	3	128				
FAT1	2195	broad.mit.edu	37	4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:187629931T>C	ENST00000441802.2	-	2	1260	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	351					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K351E(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGACTTTAACAGAAGAG	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			3	Substitution - Missense(3)	p.K351E(3)	prostate(3)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1051-1053)Aaa>Gaa		FAT atypical cadherin 1							139.0	131.0	134.0					4																	187629931		1862	4104	5966	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629931T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1051A>G	4.37:g.187629931T>C	ENSP00000406229:p.Lys351Glu	HNSCC(5;0.00058)					p.K351E	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1260	-			351						Missense_Mutation	SNP	ENST00000441802.2	37	c.1051A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033911	0.35893	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60920	0.15;0.15	5.3	4.12	0.48240	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.67953	2.075	0.58432	D	0.999996	D	0.69078	0.997	P	0.60173	0.87	T	0.63703	-0.6577	10	0.09084	T	0.74	.	11.3332	0.49487	0.0:0.0713:0.0:0.9287	.	351	Q14517	FAT1_HUMAN	E	351	ENSP00000406229:K351E;ENSP00000423736:K351E	ENSP00000260147:K351E	K	-	1	0	FAT1	187866925	1.000000	0.71417	0.521000	0.27850	0.477000	0.33069	6.137000	0.71710	1.028000	0.39785	0.482000	0.46254	AAA		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		44	242	0	0	0	0.847076	0	44	242				
PKM	5315	broad.mit.edu	37	15	72502198	72502198	+	Silent	SNP	G	G	A	rs61731567	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:72502198G>A	ENST00000335181.5	-	5	484	c.381C>T	c.(379-381)agC>agT	p.S127S	PKM_ENST00000389093.3_Silent_p.S127S|PKM_ENST00000319622.6_Silent_p.S127S|PKM_ENST00000565184.1_Silent_p.S127S|PKM_ENST00000568883.1_Intron|PKM_ENST00000449901.2_Silent_p.S112S|PKM_ENST00000568459.1_Silent_p.S127S|PKM_ENST00000565154.1_Silent_p.S127S	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	127					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CTGCAGTGCCGCTCTAGGGAC	0.517													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.0					ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(379-381)agC>agT		pyruvate kinase, muscle		G	,,,,,,	6,4392	11.4+/-27.6	0,6,2193	122.0	108.0	113.0		603,,336,396,381,381,381	0.6	1.0	15	dbSNP_129	113	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PKM2	NM_001206796.1,NM_001206797.1,NM_001206798.1,NM_001206799.1,NM_002654.4,NM_182470.2,NM_182471.2	,,,,,,	0,7,6489	AA,AG,GG		0.0116,0.1364,0.0539	,,,,,,	201/606,,112/517,132/537,127/532,127/532,127/532	72502198	7,12985	2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72502198G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.381C>T	15.37:g.72502198G>A						PKM_ENST00000449901.2_Silent_p.S112S|PKM_ENST00000389093.3_Silent_p.S127S|PKM_ENST00000335181.5_Silent_p.S127S|PKM_ENST00000568459.1_Silent_p.S127S|PKM_ENST00000565154.1_Silent_p.S127S|PKM_ENST00000565184.1_Silent_p.S127S|PKM_ENST00000568883.1_Intron	p.S127S	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					5	837	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.381C>T	CCDS32284.1																																																																																				0.517	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			5	216	0	0	0	0.217242	0	5	216				
GAB3	139716	broad.mit.edu	37	X	153940643	153940643	+	Silent	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:153940643G>C	ENST00000369575.3	-	4	958	c.927C>G	c.(925-927)ccC>ccG	p.P309P	GAB3_ENST00000424127.2_Silent_p.P310P|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	309					macrophage differentiation (GO:0030225)			p.P309P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGGGGGGCGGGGAGGTGGAG	0.488																																						ENST00000369575.3																			1	Substitution - coding silent(1)	p.P309P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(925-927)ccC>ccG		GRB2-associated binding protein 3							121.0	113.0	116.0					X																	153940643		2203	4300	6503	SO:0001819	synonymous_variant	139716							g.chrX:153940643G>C	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.927C>G	X.37:g.153940643G>C						GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Silent_p.P310P	p.P309P	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			4	958	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		309					A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	37	c.927C>G	CCDS14760.1																																																																																				0.488	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		17	164	0	0	0	0.520397	0	17	164				
KRT38	8687	broad.mit.edu	37	17	39596807	39596807	+	Missense_Mutation	SNP	G	G	A	rs150183284	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:39596807G>A	ENST00000246646.3	-	1	366	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	123	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCAGCTGGCGCACCTTCTCC	0.582													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		21666	0.0		0.0	False		,,,				2504	0.0					ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(367-369)Cgc>Tgc		keratin 38		G	CYS/ARG	13,4393	20.2+/-43.8	0,13,2190	128.0	112.0	117.0		367	-2.0	0.2	17	dbSNP_134	117	0,8600		0,0,4300	no	missense	KRT38	NM_006771.3	180	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	probably-damaging	123/457	39596807	13,12993	2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596807G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.367C>T	17.37:g.39596807G>A	ENSP00000246646:p.Arg123Cys						p.R123C	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			1	366	-		Breast(137;0.000496)	123			Coil 1A.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.367C>T	CCDS11392.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.77	3.214771	0.58452	0.002951	0.0	ENSG00000171360	ENST00000246646	D	0.92595	-3.07	4.45	-1.97	0.07503	Filament (1);	0.000000	0.49305	D	0.000141	D	0.96445	0.8840	H	0.97962	4.115	0.23150	N	0.998216	D	0.89917	1.0	D	0.73380	0.98	D	0.90054	0.4151	10	0.87932	D	0	.	6.8792	0.24163	0.1488:0.0:0.313:0.5382	.	123	O76015	KRT38_HUMAN	C	123	ENSP00000246646:R123C	ENSP00000246646:R123C	R	-	1	0	KRT38	36850333	0.000000	0.05858	0.247000	0.24249	0.993000	0.82548	0.136000	0.15974	-0.122000	0.11766	0.650000	0.86243	CGC		0.582	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		5	215	0	0	0	0.184627	0	5	215				
SRRD	402055	broad.mit.edu	37	22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:26884148G>C	ENST00000215917.7	+	3	418	c.404G>C	c.(403-405)gGa>gCa	p.G135A		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	135					rhythmic process (GO:0048511)			p.G135E(1)|p.G135A(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGGTCACAGGAACCTGCCAT	0.468																																						ENST00000215917.6																			2	Substitution - Missense(2)	p.G135E(1)|p.G135A(1)	prostate(1)|endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(403-405)gGa>gCa		SRR1 domain containing							137.0	136.0	137.0					22																	26884148		2021	4207	6228	SO:0001583	missense	402055				rhythmic process			g.chr22:26884148G>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.404G>C	22.37:g.26884148G>C	ENSP00000215917:p.Gly135Ala						p.G135A	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			3	418	+			135					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.404G>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056099	0.19907	.	.	ENSG00000100104	ENST00000215917	T	0.47869	0.83	4.81	2.74	0.32292	.	1.094480	0.06964	N	0.816953	T	0.41003	0.1140	L	0.53249	1.67	0.09310	N	1	B;B	0.31581	0.329;0.329	B;B	0.28849	0.095;0.095	T	0.27739	-1.0065	10	0.22706	T	0.39	-2.6964	7.005	0.24831	0.202:0.0:0.798:0.0	.	135;128	Q9UH36;B4DF37	SRR1L_HUMAN;.	A	135	ENSP00000215917:G135A	ENSP00000215917:G135A	G	+	2	0	SRRD	25214148	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.787000	0.26858	0.633000	0.30452	0.655000	0.94253	GGA		0.468	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		52	210	0	0	0	0.870114	0	52	210				
CHRNE	1145	broad.mit.edu	37	17	4805227	4805227	+	Splice_Site	SNP	C	C	A	rs121909514		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:4805227C>A	ENST00000293780.4	-	5	510	c.500G>T	c.(499-501)cGc>cTc	p.R167L	CHRNE_ENST00000575637.1_Intron|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	167			R -> L (in CMS-ACHRD; significantly reduced AChR expression). {ECO:0000269|PubMed:9158150}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CTCTTCCCACCGGAAAATAAG	0.657																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12	GRCh37	CM970307	CHRNE	M	rs121909514	c.e5+1		cholinergic receptor, nicotinic, epsilon (muscle)							55.0	57.0	56.0					17																	4805227		2203	4300	6503	SO:0001630	splice_region_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805227C>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.500+1G>T	17.37:g.4805227C>A						CHRNE_ENST00000575637.1_Intron|C17orf107_ENST00000381365.3_3'UTR	p.R167_splice	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			5	510	-			167		R -> L (in CMS-ACHRD; significantly reduced AChR expression).			D3DTK6	Splice_Site	SNP	ENST00000293780.4	37	c.500_splice	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777564	0.90195	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.63	4.63	0.57726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88499	0.3081	9	.	.	.	.	15.0247	0.71659	0.0:1.0:0.0:0.0	.	167	Q04844	ACHE_HUMAN	L	167	ENSP00000293780:R167L	.	R	-	2	0	CHRNE	4746006	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.396000	0.34531	2.418000	0.82041	0.561000	0.74099	CGC		0.657	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		Missense_Mutation	3	87	1	0	0.115264	0.115264	0.121411	3	87				
POLG	5428	broad.mit.edu	37	15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:89868709C>T	ENST00000268124.5	-	10	2254	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	POLG_ENST00000442287.2_Missense_Mutation_p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	641					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCTGACTCCAGGGTGGTA	0.657								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1921-1923)Gag>Aag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							58.0	57.0	57.0					15																	89868709		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89868709C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1921G>A	15.37:g.89868709C>T	ENSP00000268124:p.Glu641Lys					POLG_ENST00000442287.2_Missense_Mutation_p.E641K	p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		10	2254	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		641					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.1921G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345541	0.41498	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.96300	-3.97;-3.97;-3.17	4.52	2.49	0.30216	.	0.655279	0.15987	N	0.235022	D	0.92123	0.7503	L	0.42581	1.335	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.82094	-0.0627	10	0.27082	T	0.32	0.09	6.867	0.24098	0.1714:0.7354:0.0:0.0932	.	641	P54098	DPOG1_HUMAN	K	641;641;97	ENSP00000268124:E641K;ENSP00000399851:E641K;ENSP00000432389:E97K	ENSP00000268124:E641K	E	-	1	0	POLG	87669713	0.061000	0.20836	0.000000	0.03702	0.247000	0.25773	2.970000	0.49240	0.367000	0.24454	0.561000	0.74099	GAG		0.657	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		12	194	0	0	0	0.411799	0	12	194				
HSP90AA1	3320	broad.mit.edu	37	14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:102548653C>T	ENST00000216281.8	-	10	2089	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.M750I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCTTTGCTGCCATGTAACCCA	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2248-2250)atG>atA		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						163.0	162.0	163.0					14																	102548653		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548653C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1884G>A	14.37:g.102548653C>T	ENSP00000216281:p.Met628Ile					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I	p.M750I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			11	2531	-			628					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2250G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	19.62	3.861845	0.71949	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.10763	2.84;2.84	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	T	0.34978	0.0916	M	0.90252	3.1	0.80722	D	1	P;P	0.48640	0.913;0.864	P;P	0.54060	0.741;0.681	T	0.49173	-0.8967	10	0.87932	D	0	-45.819	17.5881	0.87988	0.0:1.0:0.0:0.0	.	750;628	P07900-2;P07900	.;HS90A_HUMAN	I	628;750	ENSP00000216281:M628I;ENSP00000335153:M750I	ENSP00000216281:M628I	M	-	3	0	HSP90AA1	101618406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.776000	0.68924	2.228000	0.72767	0.585000	0.79938	ATG		0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	394	0	0	0	0.248553	0	7	394				
ACADSB	36	broad.mit.edu	37	10	124806813	124806813	+	Splice_Site	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:124806813A>G	ENST00000358776.4	+	8	1003	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	ACADSB_ENST00000368869.4_Splice_Site_p.Q228R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	330					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TTTGATTTTCAGGTATGTAAT	0.403																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.e8+1		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						79.0	87.0	84.0					10																	124806813		2203	4300	6503	SO:0001630	splice_region_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124806813A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.990+1A>G	10.37:g.124806813A>G						ACADSB_ENST00000368869.4_Splice_Site_p.Q228_splice	p.Q330_splice	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	8	1003	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	330					B4DQ51|Q5SQN6|Q96CX7	Splice_Site	SNP	ENST00000358776.4	37	c.990_splice	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272664	0.59649	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.97303	-4.33;-4.33	5.5	5.5	0.81552	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	10	0.87932	D	0	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	330	P45954	ACDSB_HUMAN	R	228;330	ENSP00000357862:Q228R;ENSP00000357873:Q330R	ENSP00000357873:Q330R	Q	+	2	0	ACADSB	124796803	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	8.716000	0.91420	2.082000	0.62665	0.528000	0.53228	CAG		0.403	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	Missense_Mutation	3	103	0	0	0	0.115264	0	3	103				
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr21:11098827C>T	ENST00000470054.1	-	0	98							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							18.0	29.0	26.0					21																	11098827		691	1591	2282			85319							g.chr21:11098827C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098827C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	98	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.637	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	13	0	0	0	0.217242	0	4	13				
FGD3	89846	broad.mit.edu	37	9	95784668	95784668	+	Silent	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:95784668A>C	ENST00000375482.3	+	14	2050	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000337352.6_Silent_p.A518A|FGD3_ENST00000416701.2_Silent_p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	518					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A518A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGGTGCAGCAGGGGTAAGTG	0.612																																						ENST00000375482.3																			2	Substitution - coding silent(2)	p.A518A(2)	prostate(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1552-1554)gcA>gcC		FYVE, RhoGEF and PH domain containing 3							47.0	49.0	49.0					9																	95784668		2018	4168	6186	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95784668A>C	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1554A>C	9.37:g.95784668A>C						FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000416701.2_Silent_p.A518A|FGD3_ENST00000337352.6_Silent_p.A518A	p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			14	2050	+			518					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1554A>C	CCDS43849.1																																																																																				0.612	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		13	103	0	0	0	0.457914	0	13	103				
RNASE6	6039	broad.mit.edu	37	14	21250158	21250158	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:21250158C>T	ENST00000304677.2	+	2	593	c.300C>T	c.(298-300)aaC>aaT	p.N100N	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	100					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGCCTGTCAACATGACTGACT	0.502																																						ENST00000304677.2																			0				large_intestine(1)	1						c.(298-300)aaC>aaT		ribonuclease, RNase A family, k6							148.0	143.0	145.0					14																	21250158		2203	4300	6503	SO:0001819	synonymous_variant	6039				defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21250158C>T	U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.300C>T	14.37:g.21250158C>T							p.N100N	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	2	593	+	all_cancers(95;0.00406)		100						Silent	SNP	ENST00000304677.2	37	c.300C>T	CCDS9558.1																																																																																				0.502	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073750.2			8	286	0	0	0	0.278610	0	8	286				
C9orf84	158401	broad.mit.edu	37	9	114543279	114543279	+	5'UTR	SNP	G	G	A	rs534243165		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:114543279G>A	ENST00000318737.4	-	0	124				C9orf84_ENST00000374283.5_Missense_Mutation_p.P63L|C9orf84_ENST00000374287.3_5'UTR	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84											breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTCATTCCCGGAACTGAAAC	0.348													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18257	0.0		0.0	False		,,,				2504	0.0					ENST00000374283.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(187-189)cCg>cTg		chromosome 9 open reading frame 84							79.0	77.0	78.0					9																	114543279		2203	4300	6503	SO:0001623	5_prime_UTR_variant	158401							g.chr9:114543279G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.-5C>T	9.37:g.114543279G>A						C9orf84_ENST00000374287.3_5'UTR|C9orf84_ENST00000318737.4_5'UTR	p.P63L			Q5VXU9	CI084_HUMAN			4	332	-			0					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.188C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.981573	0.00046	.	.	ENSG00000165181	ENST00000374283	T	0.39229	1.09	4.7	-9.4	0.00616	.	2.997830	0.01229	N	0.008314	T	0.19046	0.0457	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11817	-1.0572	9	0.18276	T	0.48	.	3.5437	0.07820	0.2777:0.1101:0.4402:0.172	.	63	Q5VXU9-2	.	L	63	ENSP00000363401:P63L	ENSP00000363401:P63L	P	-	2	0	C9orf84	113583100	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-2.747000	0.00794	-2.463000	0.00535	-1.335000	0.01260	CCG		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		3	111	0	0	0	0.115264	0	3	111				
CASC1	55259	broad.mit.edu	37	12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:25264722A>C	ENST00000320267.9	-	13	1826	c.1745T>G	c.(1744-1746)gTt>gGt	p.V582G	CASC1_ENST00000354189.5_Missense_Mutation_p.V646G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	582										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTTATAATAACATAAAAATG	0.279																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1936-1938)gTt>gGt		cancer susceptibility candidate 1							52.0	56.0	55.0					12																	25264722		2202	4295	6497	SO:0001583	missense	55259							g.chr12:25264722A>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1745T>G	12.37:g.25264722A>C	ENSP00000313141:p.Val582Gly					CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G	p.V646G	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		14	1972	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		582					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1937T>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.260250|2.260250	0.39995|0.39995	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.57273	.|0.41;1.08;1.08;0.5;0.51	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|5.970640	.|0.00780	.|N	.|0.001273	T|T	0.77301|0.77301	0.4110|0.4110	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.997;0.999	T|T	0.56032|0.56032	-0.8046|-0.8046	5|10	.|0.51188	.|T	.|0.08	-0.2726|-0.2726	12.8988|12.8988	0.58113|0.58113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|470;523;646;582;588	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	W|G	418|646;588;582;542;470;523;392	.|ENSP00000346126:V646G;ENSP00000379310:V588G;ENSP00000313141:V582G;ENSP00000379313:V542G;ENSP00000437373:V523G	.|ENSP00000313141:V582G	C|V	-|-	3|2	2|0	CASC1|CASC1	25155989|25155989	0.996000|0.996000	0.38824|0.38824	0.911000|0.911000	0.35937|0.35937	0.127000|0.127000	0.20565|0.20565	4.177000|4.177000	0.58276|0.58276	2.054000|2.054000	0.61138|0.61138	0.528000|0.528000	0.53228|0.53228	TGT|GTT		0.279	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		5	140	0	0	0	0.184627	0	5	140				
LIMS2	55679	broad.mit.edu	37	2	128399723	128399723	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:128399723C>A	ENST00000355119.4	-	6	726	c.561G>T	c.(559-561)ctG>ctT	p.L187L	LIMS2_ENST00000409254.1_Silent_p.L35L|LIMS2_ENST00000410011.1_Silent_p.L182L|LIMS2_ENST00000409754.1_Silent_p.L35L|LIMS2_ENST00000410038.1_Silent_p.L35L|LIMS2_ENST00000545738.2_Silent_p.L209L|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000409455.1_Silent_p.L182L|LIMS2_ENST00000409808.2_Silent_p.L182L|LIMS2_ENST00000324938.5_Silent_p.L211L|LIMS2_ENST00000409286.1_Silent_p.L35L	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	187	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L211L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CATGGCAGGGCAGGCAGTAGA	0.692																																						ENST00000409455.1																			1	Substitution - coding silent(1)	p.L211L(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(544-546)ctG>ctT		LIM and senescent cell antigen-like domains 2							23.0	25.0	25.0					2																	128399723		2197	4296	6493	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128399723C>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.561G>T	2.37:g.128399723C>A						LIMS2_ENST00000355119.4_Silent_p.L187L|LIMS2_ENST00000409808.2_Silent_p.L182L|LIMS2_ENST00000409754.1_Silent_p.L35L|LIMS2_ENST00000410011.1_Silent_p.L182L|LIMS2_ENST00000409286.1_Silent_p.L35L|LIMS2_ENST00000545738.2_Silent_p.L209L|LIMS2_ENST00000410038.1_Silent_p.L35L|LIMS2_ENST00000409254.1_Silent_p.L35L|LIMS2_ENST00000324938.5_Silent_p.L211L	p.L182L			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	6	1181	-	Colorectal(110;0.1)		187			LIM zinc-binding 3.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.546G>T	CCDS54395.1																																																																																				0.692	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		7	17	1	0	0.0381472	0.278610	0.0404514	7	17				
ASIC4	55515	broad.mit.edu	37	2	220396491	220396491	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396491C>T	ENST00000347842.3	+	2	989	c.975C>T	c.(973-975)cgC>cgT	p.R325R	ASIC4_ENST00000358078.4_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TCTATACTCGCTATGGGAAGT	0.632																																						ENST00000358078.4																			0											c.(973-975)cgC>cgT		acid-sensing (proton-gated) ion channel family member 4							62.0	66.0	65.0					2																	220396491		2203	4300	6503	SO:0001819	synonymous_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396491C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.975C>T	2.37:g.220396491C>T						ASIC4_ENST00000347842.3_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	p.R325R			Q96FT7	ACCN4_HUMAN			2	989	+			325					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.975C>T	CCDS2442.1																																																																																				0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		7	209	0	0	0	0.278610	0	7	209				
FAM193A	8603	broad.mit.edu	37	4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:2691264C>A	ENST00000324666.5	+	12	1841	c.1490C>A	c.(1489-1491)aCa>aAa	p.T497K	FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	497										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAATCACACAAATAAGCAT	0.328																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1489-1491)aCa>aAa		family with sequence similarity 193, member A							90.0	85.0	86.0					4																	2691264		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691264C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1490C>A	4.37:g.2691264C>A	ENSP00000324587:p.Thr497Lys					FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K	p.T497K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			12	1841	+			497					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1490C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507674	0.64410	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.38	5.38	0.77491	.	0.247430	0.39210	N	0.001428	T	0.38188	0.1031	L	0.50333	1.59	0.42181	D	0.991689	D;P;D;P;D	0.57257	0.979;0.787;0.979;0.827;0.979	P;B;P;B;P	0.51615	0.675;0.23;0.675;0.346;0.585	T	0.18555	-1.0333	10	0.72032	D	0.01	-17.7477	18.1813	0.89779	0.0:1.0:0.0:0.0	.	497;519;497;519;497	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	497;497;497;519;351	ENSP00000372290:T497K;ENSP00000324587:T497K;ENSP00000443617:T497K;ENSP00000427505:T519K;ENSP00000427260:T351K	ENSP00000324587:T497K	T	+	2	0	FAM193A	2661062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.850000	0.69473	2.532000	0.85374	0.558000	0.71614	ACA		0.328	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		5	151	1	0	0.0215528	0.217242	0.0231656	5	151				
FSCN3	29999	broad.mit.edu	37	7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:127235734C>G	ENST00000265825.5	+	2	737	c.518C>G	c.(517-519)cCc>cGc	p.P173R	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	173						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P173R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCAGTTCCCTGCCTGGAG	0.602																																						ENST00000265825.5																			1	Substitution - Missense(1)	p.P173R(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(517-519)cCc>cGc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							160.0	128.0	139.0					7																	127235734		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235734C>G		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.518C>G	7.37:g.127235734C>G	ENSP00000265825:p.Pro173Arg					FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	p.P173R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	737	+			173					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.518C>G	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044120	0.75732	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.66638	0.37;-0.22	5.58	5.58	0.84498	Actin cross-linking (1);	0.000000	0.64402	D	0.000008	T	0.80909	0.4714	M	0.69823	2.125	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.82194	-0.0578	10	0.87932	D	0	-21.7692	15.4359	0.75146	0.0:1.0:0.0:0.0	.	39;173	B4DU68;Q9NQT6	.;FSCN3_HUMAN	R	173;39	ENSP00000265825:P173R;ENSP00000412243:P39R	ENSP00000265825:P173R	P	+	2	0	FSCN3	127022970	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	4.777000	0.62361	2.788000	0.95919	0.650000	0.86243	CCC		0.602	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		24	128	0	0	0	0.681144	0	24	128				
MARS2	92935	broad.mit.edu	37	2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542																																						ENST00000282276.6																			1	Substitution - Missense(1)	p.G328D(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(982-984)gGc>gAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						128.0	126.0	127.0					2																	198571112		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571112G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.983G>A	2.37:g.198571112G>A	ENSP00000282276:p.Gly328Asp					AC011997.1_ENST00000409845.1_Intron	p.G328D	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1026	+			328					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.983G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352276	0.82132	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.56611	0.45	5.45	5.45	0.79879	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109437	0.64402	D	0.000007	T	0.55401	0.1918	L	0.56340	1.77	0.80722	D	1	P	0.40376	0.715	P	0.46685	0.524	T	0.47156	-0.9139	10	0.13108	T	0.6	-14.7498	16.7845	0.85571	0.0:0.0:1.0:0.0	.	328	Q96GW9	SYMM_HUMAN	D	328;255	ENSP00000282276:G328D	ENSP00000282276:G328D	G	+	2	0	MARS2	198279357	1.000000	0.71417	0.917000	0.36280	0.977000	0.68977	9.746000	0.98859	2.575000	0.86900	0.655000	0.94253	GGC		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		7	387	0	0	0	0.248553	0	7	387				
CDH4	1002	broad.mit.edu	37	20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:60504782A>T	ENST00000360469.5	+	13	2209	c.2121A>T	c.(2119-2121)aaA>aaT	p.K707N	CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	707	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCATCATCAAAGTCAAGGTGT	0.592																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2119-2121)aaA>aaT		cadherin 4, type 1, R-cadherin (retinal)							179.0	130.0	146.0					20																	60504782		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504782A>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2121A>T	20.37:g.60504782A>T	ENSP00000353656:p.Lys707Asn					CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	p.K707N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2209	+			707			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2121A>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079953	0.55753	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60672	0.17;0.17	4.08	-3.76	0.04359	Cadherin (3);Cadherin-like (1);	0.121949	0.64402	D	0.000018	T	0.50769	0.1635	L	0.40543	1.245	0.41855	D	0.990196	P	0.52842	0.956	P	0.52424	0.698	T	0.52388	-0.8582	9	.	.	.	.	10.5319	0.44981	0.2217:0.0:0.6707:0.1076	.	707	P55283	CADH4_HUMAN	N	707;615;633	ENSP00000353656:K707N;ENSP00000443301:K633N	.	K	+	3	2	CDH4	59938177	0.015000	0.18098	0.996000	0.52242	0.930000	0.56654	-0.918000	0.04021	-0.430000	0.07318	-0.441000	0.05720	AAA		0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		5	199	0	0	0	0.184627	0	5	199				
DDX43	55510	broad.mit.edu	37	6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:74107454A>C	ENST00000370336.4	+	2	451	c.293A>C	c.(292-294)aAc>aCc	p.N98T	OOEP_ENST00000370363.1_5'Flank|DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	98	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTACAACAAACACCACAATC	0.333																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(292-294)aAc>aCc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							125.0	113.0	117.0					6																	74107454		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74107454A>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.293A>C	6.37:g.74107454A>C	ENSP00000359361:p.Asn98Thr					DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			2	451	+			98			KH.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.293A>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240169	0.39598	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.32272	1.46;1.46	4.81	2.05	0.26809	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.246510	0.39759	N	0.001271	T	0.21307	0.0513	M	0.79475	2.455	0.28948	N	0.890561	P	0.38473	0.633	P	0.46585	0.521	T	0.12889	-1.0530	10	0.49607	T	0.09	-19.9178	3.1969	0.06636	0.6039:0.2407:0.1554:0.0	.	98	Q9NXZ2	DDX43_HUMAN	T	98	ENSP00000359361:N98T;ENSP00000441636:N98T	ENSP00000359361:N98T	N	+	2	0	DDX43	74164175	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	1.272000	0.33109	0.757000	0.33036	0.383000	0.25322	AAC		0.333	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		3	112	0	0	0	0.150653	0	3	112				
DDIT4	54541	broad.mit.edu	37	10	74034535	74034535	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:74034535G>A	ENST00000307365.3	+	3	489	c.288G>A	c.(286-288)ctG>ctA	p.L96L	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	96					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.L96L(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCCAACCTGATGCAGCTGC	0.627											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			1	Substitution - coding silent(1)	p.L96L(1)	prostate(1)	cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(286-288)ctG>ctA		DNA-damage-inducible transcript 4							107.0	110.0	109.0					10																	74034535		2203	4300	6503	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034535G>A	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.288G>A	10.37:g.74034535G>A			OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.L96L	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	489	+			96					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.288G>A	CCDS7315.1																																																																																				0.627	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		37	371	0	0	0	0.847076	0	37	371				
MASP2	10747	broad.mit.edu	37	1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:11090302A>T	ENST00000400897.3	-	10	1243	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	410	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y410N(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCACACACATATTTACCTGCA	0.393																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			1	Substitution - Missense(1)	p.Y410N(1)	prostate(1)	biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1228-1230)Tat>Aat		mannan-binding lectin serine peptidase 2							111.0	108.0	109.0					1																	11090302		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090302A>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1228T>A	1.37:g.11090302A>T	ENSP00000383690:p.Tyr410Asn					RP4-635E18.8_ENST00000607145.1_RNA	p.Y410N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	10	1243	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	410			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1228T>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992023	0.74703	.	.	ENSG00000009724	ENST00000400897	T	0.65178	-0.14	5.63	5.63	0.86233	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.83644	0.5299	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87842	0.2652	10	0.87932	D	0	.	15.5059	0.75739	1.0:0.0:0.0:0.0	.	410	O00187	MASP2_HUMAN	N	410	ENSP00000383690:Y410N	ENSP00000383690:Y410N	Y	-	1	0	MASP2	11012889	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.070000	0.71220	2.149000	0.67028	0.533000	0.62120	TAT		0.393	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		23	139	0	0	0	0.639603	0	23	139				
USP35	57558	broad.mit.edu	37	11	77911274	77911274	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:77911274C>T	ENST00000529308.1	+	5	1293	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	344					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627																																						ENST00000529308.1																			2	Substitution - coding silent(2)	p.F344F(1)|p.F100F(1)	prostate(2)	endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1030-1032)ttC>ttT		ubiquitin specific peptidase 35							67.0	67.0	67.0					11																	77911274		1979	4149	6128	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911274C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1032C>T	11.37:g.77911274C>T						USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000441408.2_5'UTR	p.F344F	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	1293	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		344						Silent	SNP	ENST00000529308.1	37	c.1032C>T	CCDS41693.1																																																																																				0.627	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		12	82	0	0	0	0.435327	0	12	82				
KIDINS220	57498	broad.mit.edu	37	2	8918770	8918770	+	Splice_Site	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:8918770C>T	ENST00000256707.3	-	20	2883	c.2702G>A	c.(2701-2703)cGg>cAg	p.R901Q	KIDINS220_ENST00000319688.5_Splice_Site_p.R902Q|KIDINS220_ENST00000427284.1_Splice_Site_p.R901Q|KIDINS220_ENST00000418530.1_Splice_Site_p.R859Q|KIDINS220_ENST00000473731.1_Splice_Site_p.R901Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	901	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATCTTACCCGTCTATTGAG	0.363																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.e20+1		kinase D-interacting substrate, 220kDa							160.0	147.0	151.0					2																	8918770		1883	4111	5994	SO:0001630	splice_region_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8918770C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2703+1G>A	2.37:g.8918770C>T						KIDINS220_ENST00000473731.1_Splice_Site_p.R901_splice|KIDINS220_ENST00000319688.5_Splice_Site_p.R902_splice|KIDINS220_ENST00000418530.1_Splice_Site_p.R859_splice|KIDINS220_ENST00000427284.1_Splice_Site_p.R901_splice	p.R901_splice	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			20	2883	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		901			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Splice_Site	SNP	ENST00000256707.3	37	c.2703_splice	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178301	0.78564	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.68025	0.83;-0.3;-0.27;-0.18;-0.27;-0.23;-0.21	5.86	5.86	0.93980	KAP P-loop (1);	0.104386	0.64402	D	0.000006	D	0.82710	0.5096	M	0.74881	2.28	0.80722	D	1	D;P;P;P	0.76494	0.999;0.883;0.928;0.896	D;P;P;P	0.80764	0.994;0.613;0.559;0.686	T	0.82725	-0.0315	10	0.59425	D	0.04	.	20.1785	0.98192	0.0:1.0:0.0:0.0	.	902;902;859;901	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	648;585;901;901;859;901;902;902	ENSP00000420364:R648Q;ENSP00000256707:R901Q;ENSP00000411849:R901Q;ENSP00000414923:R859Q;ENSP00000418974:R901Q;ENSP00000419964:R902Q;ENSP00000319947:R902Q	ENSP00000256707:R901Q	R	-	2	0	KIDINS220	8836221	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	7.770000	0.85390	2.773000	0.95371	0.655000	0.94253	CGG		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	Missense_Mutation	9	353	0	0	0	0.335167	0	9	353				
TTC17	55761	broad.mit.edu	37	11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:43418961G>C	ENST00000039989.4	+	7	852	c.838G>C	c.(838-840)Gat>Cat	p.D280H	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	280					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTCTCTGCTGATGCTGCTGT	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(838-840)Gat>Cat		tetratricopeptide repeat domain 17							233.0	197.0	209.0					11																	43418961		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43418961G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.838G>C	11.37:g.43418961G>C	ENSP00000039989:p.Asp280His					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	p.D280H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			7	852	+			280					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.838G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253126	0.95336	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.55413	0.52;0.52	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.80764	0.99;0.992;0.994	T	0.76085	-0.3088	10	0.66056	D	0.02	-21.3082	20.3206	0.98668	0.0:0.0:1.0:0.0	.	280;280;280	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	280	ENSP00000299240:D280H;ENSP00000039989:D280H	ENSP00000039989:D280H	D	+	1	0	TTC17	43375537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.809000	0.96659	0.655000	0.94253	GAT		0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		11	445	0	0	0	0.387290	0	11	445				
SEMA3C	10512	broad.mit.edu	37	7	80432076	80432076	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:80432076C>G	ENST00000265361.3	-	9	1382	c.821G>C	c.(820-822)cGt>cCt	p.R274P	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R274P|SEMA3C_ENST00000536800.1_Missense_Mutation_p.R126P|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R292P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	274	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACAAGGCTACGCAGTCCACC	0.398																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(820-822)cGt>cCt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							109.0	100.0	103.0					7																	80432076		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80432076C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.821G>C	7.37:g.80432076C>G	ENSP00000265361:p.Arg274Pro					SEMA3C_ENST00000419255.2_Missense_Mutation_p.R274P|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R292P|SEMA3C_ENST00000536800.1_Missense_Mutation_p.R126P	p.R274P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			9	1382	-			274			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.821G>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060129	0.93846	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.91635	0.999;0.95;0.97	T	0.61461	-0.7058	10	0.87932	D	0	.	19.8856	0.96911	0.0:1.0:0.0:0.0	.	126;292;274	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	P	274;274;292;126	ENSP00000265361:R274P;ENSP00000411193:R274P;ENSP00000445649:R292P;ENSP00000438258:R126P	ENSP00000265361:R274P	R	-	2	0	SEMA3C	80270012	1.000000	0.71417	0.950000	0.38849	0.984000	0.73092	6.055000	0.71103	2.697000	0.92050	0.585000	0.79938	CGT		0.398	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		6	151	0	0	0	0.217242	0	6	151				
LY75	4065	broad.mit.edu	37	2	160710869	160710869	+	Splice_Site	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:160710869A>T	ENST00000263636.4	-	18	2623		c.e18+1		LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		cttttaaattaCATTTGCTAT	0.254																																						ENST00000263636.4																			1	Unknown(1)	p.?(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e18+1		lymphocyte antigen 75							25.0	25.0	25.0					2																	160710869		2192	4298	6490	SO:0001630	splice_region_variant	4065							g.chr2:160710869A>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2595+1T>A	2.37:g.160710869A>T						LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	18	2623	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1																																																																																				0.254	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	5	73	0	0	0	0.184627	0	5	73				
TMC1	117531	broad.mit.edu	37	9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:75357381G>A	ENST00000297784.5	+	10	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_ENST00000340019.3_Missense_Mutation_p.D159N|TMC1_ENST00000396237.3_Missense_Mutation_p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	159	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.D159N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTCCTCCGTGATTTTGAGAA	0.378																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			1	Substitution - Missense(1)	p.D159N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(475-477)Gat>Aat		transmembrane channel-like 1							89.0	83.0	85.0					9																	75357381		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75357381G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.475G>A	9.37:g.75357381G>A	ENSP00000297784:p.Asp159Asn					TMC1_ENST00000396237.3_Missense_Mutation_p.D159N|TMC1_ENST00000340019.3_Missense_Mutation_p.D159N	p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			10	1015	+			159			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.475G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418618	0.96092	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.14640	2.49;2.49;2.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	M	0.67700	2.07	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.991;0.991;0.993	T	0.01639	-1.1306	10	0.18710	T	0.47	-31.5326	18.8421	0.92188	0.0:0.0:1.0:0.0	.	126;126;159	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	N	159;159;126;126;126;153;159	ENSP00000297784:D159N;ENSP00000341433:D159N;ENSP00000379538:D159N	ENSP00000297784:D159N	D	+	1	0	TMC1	74547201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.892000	0.92491	2.744000	0.94065	0.655000	0.94253	GAT		0.378	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			16	87	0	0	0	0.500413	0	16	87				
RTKN	6242	broad.mit.edu	37	2	74666743	74666743	+	Missense_Mutation	SNP	C	C	T	rs112456374		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:74666743C>T	ENST00000305557.5	-	2	592	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RTKN_ENST00000233330.6_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000272430.5_Intron	NM_033046.2	NP_149035.1			rhotekin									p.D3N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCAATCTGTCCTGCATCTCT	0.577																																						ENST00000305557.5																			1	Substitution - Missense(1)	p.D3N(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(7-9)Gac>Aac		rhotekin		C	,,ASN/ASP	0,4406		0,0,2203	180.0	129.0	147.0		,,7	4.9	1.0	2	dbSNP_132	147	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	RTKN	NM_001015055.1,NM_001015056.1,NM_033046.2	,,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,3/551	74666743	1,13005	2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74666743C>T	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000305557.5:c.7G>A	2.37:g.74666743C>T	ENSP00000305298:p.Asp3Asn					RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000233330.6_Intron	p.D3N	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			2	592	-			0						Missense_Mutation	SNP	ENST00000305557.5	37	c.7G>A	CCDS1941.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973540	0.92919	0.0	1.16E-4	ENSG00000114993	ENST00000305557	T	0.36699	1.24	4.95	4.95	0.65309	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.65627	-0.6122	8	0.72032	D	0.01	.	15.7188	0.77691	0.0:1.0:0.0:0.0	.	3	Q9BST9-2	.	N	3	ENSP00000305298:D3N	ENSP00000305298:D3N	D	-	1	0	RTKN	74520251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.171000	0.58236	2.581000	0.87130	0.563000	0.77884	GAC		0.577	RTKN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252217.4	NM_001015055		11	48	0	0	0	0.361761	0	11	48				
UBA5	79876	broad.mit.edu	37	3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:132394111A>T	ENST00000356232.4	+	9	1904	c.832A>T	c.(832-834)Act>Tct	p.T278S	UBA5_ENST00000494238.2_Missense_Mutation_p.T222S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	278					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTTGGTACTGTTAGTTT	0.294																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(832-834)Act>Tct		ubiquitin-like modifier activating enzyme 5							69.0	66.0	67.0					3																	132394111		2202	4300	6502	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132394111A>T	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.832A>T	3.37:g.132394111A>T	ENSP00000348565:p.Thr278Ser					UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S	p.T278S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			9	1904	+			278					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.832A>T	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432577	0.43224	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.157579	0.56097	D	0.000026	T	0.30039	0.0752	L	0.42686	1.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03017	-1.1082	10	0.49607	T	0.09	-8.7736	16.0928	0.81102	1.0:0.0:0.0:0.0	.	278;278	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	S	222;278;278;278;222	ENSP00000264991:T222S;ENSP00000348565:T278S;ENSP00000417879:T278S;ENSP00000424984:T278S;ENSP00000418807:T222S	ENSP00000264991:T222S	T	+	1	0	UBA5	133876801	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	7.090000	0.76916	2.192000	0.70111	0.482000	0.46254	ACT		0.294	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		4	85	0	0	0	0.150653	0	4	85				
MUC16	94025	broad.mit.edu	37	19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C	rs574638609		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:9074121G>C	ENST00000397910.4	-	3	13528	c.13325C>G	c.(13324-13326)aCa>aGa	p.T4442R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4444	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						GGGAGGGCTTGTCCAGGACAC	0.493																																						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.(13324-13326)aCa>aGa		mucin 16, cell surface associated							124.0	121.0	122.0					19																	9074121		2042	4183	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074121G>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.13325C>G	19.37:g.9074121G>C	ENSP00000381008:p.Thr4442Arg						p.T4442R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13528	-			4444			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13325C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.315	0.615802	0.14129	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.99	0.874	0.19124	.	.	.	.	.	T	0.28067	0.0692	L	0.53249	1.67	.	.	.	D	0.62365	0.991	P	0.48840	0.592	T	0.39333	-0.9619	8	0.87932	D	0	.	6.4795	0.22055	0.0:0.304:0.696:0.0	.	4442	B5ME49	.	R	4442	ENSP00000381008:T4442R	ENSP00000381008:T4442R	T	-	2	0	MUC16	8935121	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	-0.041000	0.12084	0.382000	0.24878	0.305000	0.20034	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	186	0	0	0	0.435327	0	13	186				
MIS18BP1	55320	broad.mit.edu	37	14	45693191	45693191	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:45693191G>T	ENST00000310806.4	-	11	3057	c.2599C>A	c.(2599-2601)Ccc>Acc	p.P867T		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	867					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CATTCTAAGGGATGCCTATTT	0.383																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2599-2601)Ccc>Acc		MIS18 binding protein 1							102.0	96.0	98.0					14																	45693191		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693191G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2599C>A	14.37:g.45693191G>T	ENSP00000309790:p.Pro867Thr						p.P867T	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	3057	-			867					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2599C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.980202	0.00046	.	.	ENSG00000129534	ENST00000310806	T	0.16324	2.35	5.4	-4.72	0.03269	.	1.162560	0.06170	N	0.677462	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.40572	-0.9556	10	0.15952	T	0.53	14.412	7.658	0.28386	0.4838:0.1131:0.4031:0.0	.	867	Q6P0N0	M18BP_HUMAN	T	867	ENSP00000309790:P867T	ENSP00000309790:P867T	P	-	1	0	MIS18BP1	44762941	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.907000	0.03862	-1.990000	0.00449	CCC		0.383	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			8	207	1	0	5.18039e-06	0.278610	5.80498e-06	8	207				
KIAA1324L	222223	broad.mit.edu	37	7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	rs139786503	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86539226C>T	ENST00000450689.2	-	16	2446	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	754						integral component of membrane (GO:0016021)		p.G514E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAATGCCCCTACCAAATT	0.398																																						ENST00000450689.2																			1	Substitution - Missense(1)	p.G514E(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2260-2262)gGg>gAg		KIAA1324-like							116.0	115.0	115.0					7																	86539226		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86539226C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2261G>A	7.37:g.86539226C>T	ENSP00000413445:p.Gly754Glu					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E	p.G754E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			16	2446	-	Esophageal squamous(14;0.0058)		754					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2261G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068308	0.20067	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.87	5.87	0.94306	Mannose-6-phosphate receptor, binding (1);	0.152626	0.64402	D	0.000009	T	0.03520	0.0101	N	0.13043	0.29	0.50467	D	0.999871	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.11329	0.006;0.003;0.002	T	0.54009	-0.8357	10	0.19147	T	0.46	.	12.5072	0.55987	0.0:0.9245:0.0:0.0755	.	754;514;587	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	E	754;514;683;587	ENSP00000413445:G754E;ENSP00000297222:G514E;ENSP00000397377:G683E;ENSP00000402390:G587E	ENSP00000297222:G514E	G	-	2	0	KIAA1324L	86377162	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.667000	0.54547	2.785000	0.95823	0.655000	0.94253	GGG		0.398	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		21	121	0	0	0	0.575678	0	21	121				
KIAA1324L	222223	broad.mit.edu	37	7	86541390	86541390	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86541390C>T	ENST00000450689.2	-	15	2352	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E556K|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E483K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E652K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	723						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAACTCACCTCATGCCCACAT	0.413																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2167-2169)Gag>Aag		KIAA1324-like							124.0	116.0	118.0					7																	86541390		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86541390C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2167G>A	7.37:g.86541390C>T	ENSP00000413445:p.Glu723Lys					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E483K|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E556K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E652K	p.E723K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			15	2352	-	Esophageal squamous(14;0.0058)		723					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2167G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203327	0.58234	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.82	5.82	0.92795	Mannose-6-phosphate receptor, binding (1);	0.104647	0.64402	D	0.000003	T	0.05868	0.0153	L	0.29908	0.895	0.50632	D	0.999888	B;B;B	0.20052	0.028;0.041;0.018	B;B;B	0.20577	0.03;0.016;0.011	T	0.48445	-0.9035	10	0.23302	T	0.38	.	19.0848	0.93200	0.0:1.0:0.0:0.0	.	723;483;556	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	K	723;483;652;556	ENSP00000413445:E723K;ENSP00000297222:E483K;ENSP00000397377:E652K;ENSP00000402390:E556K	ENSP00000297222:E483K	E	-	1	0	KIAA1324L	86379326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.378000	0.44309	2.751000	0.94390	0.650000	0.86243	GAG		0.413	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		10	237	0	0	0	0.335167	0	10	237				
TAS2R46	259292	broad.mit.edu	37	12	11214315	11214315	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:11214315T>A	ENST00000533467.1	-	1	578	c.579A>T	c.(577-579)atA>atT	p.I193I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.I193I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAGAAAAGATATCAGGGTCA	0.413																																						ENST00000533467.1																			2	Substitution - coding silent(2)	p.I193I(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(577-579)atA>atT		taste receptor, type 2, member 46							178.0	183.0	181.0					12																	11214315		2203	4300	6503	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214315T>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.579A>T	12.37:g.11214315T>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193I	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	578	-			193					P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.579A>T	CCDS53748.1																																																																																				0.413	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		39	231	0	0	0	0.804634	0	39	231				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	112	0	0	0	0.150653	0	3	112				
HNF4G	3174	broad.mit.edu	37	8	76456145	76456145	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:76456145C>A	ENST00000354370.1	+	3	347	c.77C>A	c.(76-78)gCa>gAa	p.A26E	HNF4G_ENST00000396423.2_Missense_Mutation_p.A63E			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	26					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A26E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CACTATGGGGCATCCAGCTGT	0.468																																						ENST00000396423.2																			1	Substitution - Missense(1)	p.A26E(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(187-189)gCa>gAa		hepatocyte nuclear factor 4, gamma							148.0	126.0	134.0					8																	76456145		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76456145C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.77C>A	8.37:g.76456145C>A	ENSP00000346339:p.Ala26Glu					HNF4G_ENST00000354370.1_Missense_Mutation_p.A26E	p.A63E	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		2	312	+	Breast(64;0.0448)		26					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.188C>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971443	0.74246	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97553	-4.43;-4.43	4.86	4.86	0.63082	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	D	0.99494	1.0951	10	0.87932	D	0	.	18.1547	0.89687	0.0:1.0:0.0:0.0	.	63;26	F1D8Q4;Q14541	.;HNF4G_HUMAN	E	26;63	ENSP00000346339:A26E;ENSP00000379701:A63E	ENSP00000346339:A26E	A	+	2	0	HNF4G	76618700	1.000000	0.71417	0.984000	0.44739	0.250000	0.25880	7.541000	0.82084	2.526000	0.85167	0.484000	0.47621	GCA		0.468	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		39	179	1	0	1.59361e-14	0.827153	1.8514e-14	39	179				
NPAS4	266743	broad.mit.edu	37	11	66192368	66192368	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66192368C>T	ENST00000311034.2	+	7	2183	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	669					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D669D(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCCTGGACTCCAACCTGT	0.607																																						ENST00000311034.2																			1	Substitution - coding silent(1)	p.D669D(1)	prostate(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2005-2007)gaC>gaT		neuronal PAS domain protein 4							87.0	93.0	91.0					11																	66192368		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192368C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2007C>T	11.37:g.66192368C>T							p.D669D	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2183	+			669					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2007C>T	CCDS8138.1																																																																																				0.607	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		46	269	0	0	0	0.870114	0	46	269				
EEA1	8411	broad.mit.edu	37	12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:93171901C>T	ENST00000322349.8	-	26	3973	c.3709G>A	c.(3709-3711)Gct>Act	p.A1237T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1237					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAAGTTTAGCCTCATTTTCT	0.373																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3709-3711)Gct>Act		early endosome antigen 1							202.0	186.0	191.0					12																	93171901		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93171901C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3709G>A	12.37:g.93171901C>T	ENSP00000317955:p.Ala1237Thr						p.A1237T	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			26	3973	-			1237					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3709G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198824	0.22121	.	.	ENSG00000102189	ENST00000322349	T	0.65178	-0.14	5.61	-1.16	0.09678	.	0.641212	0.14314	N	0.327469	T	0.34542	0.0901	N	0.11560	0.145	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	10	0.17369	T	0.5	.	7.5711	0.27909	0.1071:0.4215:0.0:0.4715	.	1237	Q15075	EEA1_HUMAN	T	1237	ENSP00000317955:A1237T	ENSP00000317955:A1237T	A	-	1	0	EEA1	91696032	0.269000	0.24143	0.431000	0.26735	0.781000	0.44180	0.101000	0.15251	-0.130000	0.11599	-0.237000	0.12165	GCT		0.373	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		7	295	0	0	0	0.248553	0	7	295				
ASCL3	56676	broad.mit.edu	37	11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:8959683C>G	ENST00000531618.1	-	1	75	c.26G>C	c.(25-27)aGt>aCt	p.S9T	ASCL3_ENST00000325884.1_Missense_Mutation_p.S9T			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	8					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTCAGGTAGACTAGAGTTGCC	0.463																																						ENST00000325884.1																			0				breast(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(25-27)aGt>aCt		achaete-scute family bHLH transcription factor 3							171.0	184.0	180.0					11																	8959683		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959683C>G	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.26G>C	11.37:g.8959683C>G	ENSP00000435770:p.Ser9Thr					ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T	p.S9T	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	85	-			8					Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.26G>C	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	C	5.024	0.190026	0.09547	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.97430	-4.38;-4.38	5.96	-0.327	0.12694	.	0.996520	0.08136	N	0.992356	D	0.91570	0.7337	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81976	-0.0686	10	0.32370	T	0.25	-0.8977	5.3389	0.15973	0.0:0.3024:0.1413:0.5562	.	8	Q9NQ33	ASCL3_HUMAN	T	9	ENSP00000318846:S9T;ENSP00000435770:S9T	ENSP00000318846:S9T	S	-	2	0	ASCL3	8916259	0.910000	0.30920	0.000000	0.03702	0.013000	0.08279	0.558000	0.23469	-0.289000	0.09038	-0.312000	0.09012	AGT		0.463	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			5	346	0	0	0	0.184627	0	5	346				
FZD5	7855	broad.mit.edu	37	2	208632596	208632596	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:208632596C>G	ENST00000295417.3	-	2	1421	c.868G>C	c.(868-870)Gtc>Ctc	p.V290L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	290					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V290L(2)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGGCCCACGACCAGACGCACC	0.622																																						ENST00000295417.3																			2	Substitution - Missense(2)	p.V290L(2)	prostate(2)	NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(868-870)Gtc>Ctc		frizzled family receptor 5							55.0	50.0	52.0					2																	208632596		2201	4296	6497	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632596C>G	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.868G>C	2.37:g.208632596C>G	ENSP00000354607:p.Val290Leu						p.V290L	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1421	-			290					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.868G>C	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025055	0.19433	.	.	ENSG00000163251	ENST00000295417	D	0.81659	-1.52	5.05	5.05	0.67936	GPCR, family 2-like (1);	0.248861	0.32287	U	0.006316	T	0.68531	0.3011	L	0.31294	0.92	0.43145	D	0.994907	B	0.14805	0.011	B	0.21151	0.033	T	0.62320	-0.6879	10	0.14252	T	0.57	.	11.5343	0.50628	0.0:0.9167:0.0:0.0833	.	290	Q13467	FZD5_HUMAN	L	290	ENSP00000354607:V290L	ENSP00000354607:V290L	V	-	1	0	FZD5	208340841	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.539000	0.45718	2.355000	0.79922	0.561000	0.74099	GTC		0.622	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		4	19	0	0	0	0.150653	0	4	19				
ANO4	121601	broad.mit.edu	37	12	101368648	101368648	+	Missense_Mutation	SNP	C	C	G	rs144445830		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:101368648C>G	ENST00000392977.3	+	7	793	c.583C>G	c.(583-585)Cgt>Ggt	p.R195G	ANO4_ENST00000392979.3_Missense_Mutation_p.R160G|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	195					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)	p.R160C(1)		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						CCTGCCCCGCCGTTACAAGTT	0.468										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.R160C(1)	large_intestine(1)	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.(478-480)Cgt>Ggt		anoctamin 4							132.0	125.0	128.0					12																	101368648		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101368648C>G	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.583C>G	12.37:g.101368648C>G	ENSP00000376703:p.Arg195Gly	HNSCC(74;0.22)				ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R195G|ANO4_ENST00000299222.9_5'UTR	p.R160G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			6	839	+			195					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.478C>G		.	.	.	.	.	.	.	.	.	.	C	16.99	3.275209	0.59649	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.65916	-0.18;-0.18	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.67730	0.2924	L	0.45137	1.4	0.80722	D	1	P;P	0.52692	0.955;0.928	P;P	0.52881	0.654;0.712	T	0.65463	-0.6162	10	0.38643	T	0.18	.	19.4375	0.94801	0.0:1.0:0.0:0.0	.	195;160	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	160;195	ENSP00000376705:R160G;ENSP00000376703:R195G	ENSP00000376703:R195G	R	+	1	0	ANO4	99892779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.392000	0.59659	2.594000	0.87642	0.650000	0.86243	CGT		0.468	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		5	194	0	0	0	0.184627	0	5	194				
HAPLN4	404037	broad.mit.edu	37	19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:19371864C>T	ENST00000291481.7	-	3	305	c.242G>A	c.(241-243)gGc>gAc	p.G81D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	81	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G81D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GAGCCGGACGCCGTCGTGACC	0.667																																						ENST00000291481.7																			1	Substitution - Missense(1)	p.G81D(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(241-243)gGc>gAc		hyaluronan and proteoglycan link protein 4							36.0	35.0	35.0					19																	19371864		2203	4299	6502	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371864C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.242G>A	19.37:g.19371864C>T	ENSP00000291481:p.Gly81Asp					AC138430.4_ENST00000586064.2_RNA	p.G81D	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	305	-			81			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.242G>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933260	0.34096	.	.	ENSG00000187664	ENST00000291481	T	0.63913	-0.07	4.52	3.38	0.38709	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.320352	0.28583	N	0.014822	T	0.44371	0.1290	N	0.19112	0.55	0.31651	N	0.646846	P	0.43352	0.804	P	0.47346	0.544	T	0.45600	-0.9250	10	0.12430	T	0.62	-11.0763	3.0061	0.06028	0.0:0.5015:0.2657:0.2328	.	81	Q86UW8	HPLN4_HUMAN	D	81	ENSP00000291481:G81D	ENSP00000291481:G81D	G	-	2	0	HAPLN4	19232864	0.967000	0.33354	1.000000	0.80357	0.532000	0.34746	3.194000	0.51005	1.042000	0.40150	0.561000	0.74099	GGC		0.667	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		9	49	0	0	0	0.361761	0	9	49				
NDUFA10	4705	broad.mit.edu	37	2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:240960668A>G	ENST00000252711.2	-	3	506	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	136					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CGACTGCTGTACAACCAGGAC	0.498											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(406-408)Tac>Cac		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						96.0	85.0	89.0					2																	240960668		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240960668A>G	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.406T>C	2.37:g.240960668A>G	ENSP00000252711:p.Tyr136His		OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H	p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	3	506	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	136					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.406T>C	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405444	0.62288	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.65	4.65	0.58169	.	0.060806	0.64402	D	0.000002	D	0.96713	0.8927	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.994;0.968;0.99;0.995	D	0.97087	0.9788	10	0.87932	D	0	-23.3071	12.3192	0.54975	1.0:0.0:0.0:0.0	.	136;136;141;136	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	H	136	ENSP00000252711:Y136H;ENSP00000385697:Y136H;ENSP00000411527:Y136H;ENSP00000302321:Y136H;ENSP00000383975:Y136H	ENSP00000252711:Y136H	Y	-	1	0	NDUFA10	240609341	1.000000	0.71417	0.994000	0.49952	0.225000	0.24961	8.568000	0.90741	1.865000	0.54081	0.460000	0.39030	TAC		0.498	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		3	97	0	0	0	0.115264	0	3	97				
LIMK2	3985	broad.mit.edu	37	22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:31667167C>A	ENST00000331728.4	+	12	1477	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N	LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.H455N(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTGAACTCGCACAACTGCCT	0.542																																						ENST00000331728.4																			2	Substitution - Missense(2)	p.H455N(2)	prostate(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1363-1365)Cac>Aac		LIM domain kinase 2							186.0	141.0	157.0					22																	31667167		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31667167C>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1363C>A	22.37:g.31667167C>A	ENSP00000332687:p.His455Asn					LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N|LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N	p.H455N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			12	1477	+			455			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1363C>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.871426	0.51695	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.88664	-2.41;-1.59;-1.59;-1.59;-2.41	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050906	0.85682	D	0.000000	D	0.83468	0.5261	N	0.01576	-0.805	0.51012	D	0.999902	B;B;B;B;D	0.63880	0.026;0.1;0.016;0.033;0.993	B;B;B;B;P	0.58577	0.061;0.098;0.038;0.1;0.841	D	0.87391	0.2363	10	0.36615	T	0.2	-32.6636	17.9017	0.88906	0.0:1.0:0.0:0.0	.	487;434;209;455;377	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	N	377;209;455;487;434;434	ENSP00000384602:H377N;ENSP00000409522:H209N;ENSP00000332687:H455N;ENSP00000330470:H434N;ENSP00000339916:H434N	ENSP00000332687:H455N	H	+	1	0	LIMK2	29997167	1.000000	0.71417	0.984000	0.44739	0.889000	0.51656	5.558000	0.67319	2.468000	0.83385	0.460000	0.39030	CAC		0.542	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		29	158	1	0	2.46105e-21	0.750413	2.90184e-21	29	158				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	110	0	0	0	0.278610	0	4	110				
EEF1A2	1917	broad.mit.edu	37	20	62121900	62121900	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:62121900G>A	ENST00000298049.7	-	5	1031	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	EEF1A2_ENST00000217182.3_Missense_Mutation_p.R321W			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	321					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGCCCCGCCGGATGTCCTTC	0.647																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(961-963)Cgg>Tgg		eukaryotic translation elongation factor 1 alpha 2							105.0	95.0	98.0					20																	62121900		2199	4294	6493	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121900G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.961C>T	20.37:g.62121900G>A	ENSP00000298049:p.Arg321Trp					EEF1A2_ENST00000298049.7_Missense_Mutation_p.R321W	p.R321W	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1126	-	all_cancers(38;9.45e-12)		321					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.961C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484653	0.84854	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.65364	-0.15;-0.15	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060988	0.64402	D	0.000003	D	0.84960	0.5588	H	0.96111	3.77	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.73708	0.981;0.863	D	0.90724	0.4637	10	0.87932	D	0	-37.6506	16.0768	0.80974	0.0:0.0:1.0:0.0	.	297;321	Q59GP5;Q05639	.;EF1A2_HUMAN	W	321	ENSP00000298049:R321W;ENSP00000217182:R321W	ENSP00000217182:R321W	R	-	1	2	EEF1A2	61592344	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	CGG		0.647	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		13	228	0	0	0	0.479597	0	13	228				
PLEKHA8	84725	broad.mit.edu	37	7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:30102304A>C	ENST00000449726.1	+	12	1596	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	416	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.K416Q(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAAATTTTTGAAGGGATTTTT	0.343																																						ENST00000449726.1																			2	Substitution - Missense(2)	p.K416Q(2)	prostate(2)	breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1246-1248)Aag>Cag		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							70.0	73.0	72.0					7																	30102304		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30102304A>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1246A>C	7.37:g.30102304A>C	ENSP00000397947:p.Lys416Gln					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q	p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			12	1596	+			416					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1246A>C	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760970	0.49468	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.15	5.15	0.70609	Glycolipid transfer protein domain (3);	0.222920	0.44902	D	0.000419	T	0.47838	0.1467	N	0.11154	0.105	0.45747	D	0.99864	D;D;D;D	0.76494	0.958;0.984;0.999;0.987	P;P;D;P	0.80764	0.663;0.773;0.994;0.856	T	0.42916	-0.9423	9	0.13853	T	0.58	-16.9095	9.2608	0.37612	0.8389:0.0:0.0:0.1611	.	416;416;416;416	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	Q	416;416;416;416;442	.	ENSP00000258679:K416Q	K	+	1	0	PLEKHA8	30068829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.405000	0.66351	1.941000	0.56285	0.533000	0.62120	AAG		0.343	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		17	139	0	0	0	0.539581	0	17	139				
TNFRSF4	7293	broad.mit.edu	37	1	1148405	1148405	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:1148405T>G	ENST00000379236.3	-	3	341	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	113					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGCTGGGTGCCCGCCCGG	0.692																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(337-339)Acc>Ccc		tumor necrosis factor receptor superfamily, member 4							19.0	21.0	20.0					1																	1148405		2191	4288	6479	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1148405T>G	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.337A>C	1.37:g.1148405T>G	ENSP00000368538:p.Thr113Pro					TNFRSF4_ENST00000453580.1_5'UTR	p.T113P	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	341	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	113					Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.337A>C	CCDS11.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.07|12.07	1.827052|1.827052	0.32329|0.32329	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000453580|ENST00000379236	.|T	.|0.44881	.|0.91	3.69|3.69	3.69|3.69	0.42338|0.42338	.|.	.|7.169050	.|0.02129	.|U	.|0.056256	T|T	0.59905|0.59905	0.2228|0.2228	L|L	0.58810|0.58810	1.83|1.83	0.31723|0.31723	N|N	0.638074|0.638074	.|D;P	.|0.76494	.|0.999;0.931	.|D;P	.|0.69479	.|0.964;0.724	T|T	0.41016|0.41016	-0.9532|-0.9532	5|10	.|0.36615	.|T	.|0.2	-25.463|-25.463	6.4747|6.4747	0.22028|0.22028	0.2165:0.0:0.0:0.7835|0.2165:0.0:0.0:0.7835	.|.	.|58;113	.|B1AME4;P43489	.|.;TNR4_HUMAN	P|P	58|113	.|ENSP00000368538:T113P	.|ENSP00000368538:T113P	H|T	-|-	2|1	0|0	TNFRSF4|TNFRSF4	1138268|1138268	0.669000|0.669000	0.27502|0.27502	0.966000|0.966000	0.40874|0.40874	0.362000|0.362000	0.29581|0.29581	1.580000|1.580000	0.36547|0.36547	1.693000|1.693000	0.51124|0.51124	0.387000|0.387000	0.25754|0.25754	CAC|ACC		0.692	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			6	29	0	0	0	0.435327	0	6	29				
DENND4A	10260	broad.mit.edu	37	15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:66015198G>T	ENST00000431932.2	-	12	1784	c.1576C>A	c.(1576-1578)Caa>Aaa	p.Q526K	DENND4A_ENST00000443035.3_Missense_Mutation_p.Q526K	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	526					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGCCAATTGCTGATGCAAA	0.303																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1576-1578)Caa>Aaa		DENN/MADD domain containing 4A							101.0	86.0	90.0					15																	66015198		1808	4066	5874	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66015198G>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1576C>A	15.37:g.66015198G>T	ENSP00000396830:p.Gln526Lys					DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K	p.Q526K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			12	1791	-			526					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1576C>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703210	0.68501	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04917	3.53;3.55	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.68317	2.08	0.80722	D	1	B;D;D	0.71674	0.01;0.998;0.994	B;D;D	0.78314	0.013;0.991;0.968	T	0.00715	-1.1597	10	0.37606	T	0.19	.	18.2232	0.89907	0.0:0.0:1.0:0.0	.	526;526;526	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	K	526	ENSP00000391167:Q526K;ENSP00000396830:Q526K	ENSP00000396830:Q526K	Q	-	1	0	DENND4A	63802252	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.480000	0.73604	2.360000	0.80028	0.563000	0.77884	CAA		0.303	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		3	43	1	0	0.184627	0.184627	0.193186	3	43				
RIPK2	8767	broad.mit.edu	37	8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:90802606T>C	ENST00000220751.4	+	11	1899	c.1585T>C	c.(1585-1587)Tca>Cca	p.S529P	RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	529					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GGTTTCTAGATCACCATCTTT	0.313																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1585-1587)Tca>Cca		receptor-interacting serine-threonine kinase 2							54.0	55.0	55.0					8																	90802606		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90802606T>C	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1585T>C	8.37:g.90802606T>C	ENSP00000220751:p.Ser529Pro					RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	p.S529P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		11	1899	+			529					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1585T>C	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785975	0.16189	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80824	-1.2;-1.42	5.69	-7.66	0.01277	.	1.227400	0.06135	N	0.671421	T	0.55529	0.1926	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	10	0.30854	T	0.27	1.8954	1.2319	0.01945	0.3887:0.2819:0.1774:0.1521	.	529	O43353	RIPK2_HUMAN	P	529;392	ENSP00000220751:S529P;ENSP00000441623:S392P	ENSP00000220751:S529P	S	+	1	0	RIPK2	90871747	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.074000	0.03427	-0.772000	0.04602	-0.353000	0.07706	TCA		0.313	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			7	111	0	0	0	0.278610	0	7	111				
ICA1L	130026	broad.mit.edu	37	2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:203661648T>A	ENST00000392237.2	-	11	1107	c.950A>T	c.(949-951)gAa>gTa	p.E317V	ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	317								p.E317V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCAAATTCTCTCATTTG	0.279																																						ENST00000392237.2																			1	Substitution - Missense(1)	p.E317V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(949-951)gAa>gTa		islet cell autoantigen 1,69kDa-like							83.0	79.0	80.0					2																	203661648		2201	4295	6496	SO:0001583	missense	130026							g.chr2:203661648T>A	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.950A>T	2.37:g.203661648T>A	ENSP00000376070:p.Glu317Val					ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN			11	1107	-			317					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.950A>T	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	t	11.24	1.580975	0.28180	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	3.65	2.49	0.30216	Islet cell autoantigen Ica1, C-terminal (1);	0.633514	0.15808	N	0.243638	T	0.50274	0.1606	M	0.63428	1.95	0.80722	D	1	B	0.24317	0.101	B	0.25506	0.061	T	0.43718	-0.9374	9	0.45353	T	0.12	.	5.5385	0.17026	0.0:0.1345:0.0:0.8655	.	317	Q8NDH6	ICA1L_HUMAN	V	317	.	ENSP00000351047:E317V	E	-	2	0	ICA1L	203369893	0.671000	0.27521	0.929000	0.37066	0.850000	0.48378	1.421000	0.34815	0.431000	0.26258	0.478000	0.44815	GAA		0.279	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		11	86	0	0	0	0.387290	0	11	86				
ITGBL1	9358	broad.mit.edu	37	13	102250584	102250584	+	Missense_Mutation	SNP	C	C	T	rs201534595	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr13:102250584C>T	ENST00000376180.3	+	7	1169	c.950C>T	c.(949-951)aCg>aTg	p.T317M	ITGBL1_ENST00000376162.3_Missense_Mutation_p.T224M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T176M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	317	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.T317M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTCCTGCACGCTGTCAGCT	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		13307	0.001		0.001	False		,,,				2504	0.0					ENST00000376180.3																			1	Substitution - Missense(1)	p.T317M(1)	prostate(1)	breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(949-951)aCg>aTg		integrin, beta-like 1 (with EGF-like repeat domains)							142.0	114.0	123.0					13																	102250584		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102250584C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.950C>T	13.37:g.102250584C>T	ENSP00000365351:p.Thr317Met					ITGBL1_ENST00000376162.3_Missense_Mutation_p.T224M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T176M	p.T317M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			7	1169	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		317			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.950C>T	CCDS9499.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.585	-0.084721	0.07097	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;T;D	0.84944	-1.92;-0.97;-1.71	5.42	1.74	0.24563	.	0.472076	0.26045	N	0.026674	T	0.66982	0.2845	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.10296	0.001;0.003	B;B	0.08055	0.0;0.003	T	0.51949	-0.8640	10	0.33141	T	0.24	.	2.9438	0.05839	0.1258:0.5559:0.1219:0.1964	.	176;317	B3KTP1;O95965	.;ITGBL_HUMAN	M	317;225;176;176;224	ENSP00000365351:T317M;ENSP00000439903:T176M;ENSP00000365332:T224M	ENSP00000365332:T224M	T	+	2	0	ITGBL1	101048585	0.000000	0.05858	0.121000	0.21740	0.011000	0.07611	0.116000	0.15561	0.005000	0.14708	-0.794000	0.03295	ACG		0.567	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		18	79	0	0	0	0.520397	0	18	79				
LRFN4	78999	broad.mit.edu	37	11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66627358A>C	ENST00000309602.4	+	2	1843	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	534						integral component of membrane (GO:0016021)		p.T534P(1)		breast(1)|lung(1)|prostate(1)	3						ACTGGTCTTCACTGTGGCCTT	0.721																																						ENST00000309602.4																			1	Substitution - Missense(1)	p.T534P(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(1600-1602)Act>Cct		leucine rich repeat and fibronectin type III domain containing 4							36.0	29.0	31.0					11																	66627358		2190	4283	6473	SO:0001583	missense	78999					integral to membrane		g.chr11:66627358A>C	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1600A>C	11.37:g.66627358A>C	ENSP00000312535:p.Thr534Pro					PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	p.T534P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	1843	+			534					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1600A>C	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801190	0.90538	.	.	ENSG00000173621	ENST00000309602	T	0.52057	0.68	4.79	4.79	0.61399	.	0.399801	0.18584	N	0.136948	T	0.52837	0.1759	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.54873	-0.8228	10	0.62326	D	0.03	.	12.2823	0.54771	1.0:0.0:0.0:0.0	.	534	Q6PJG9	LRFN4_HUMAN	P	534	ENSP00000312535:T534P	ENSP00000312535:T534P	T	+	1	0	LRFN4	66383934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	1.799000	0.52666	0.379000	0.24179	ACT		0.721	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		7	27	0	0	0	0.278610	0	7	27				
GSTM2	2946	broad.mit.edu	37	1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217403G>T	ENST00000241337.4	+	8	652	c.602G>T	c.(601-603)aGc>aTc	p.S201I	GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I|GSTM2_ENST00000442650.1_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	201	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S201I(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ATGAAGTCCAGCCGCTTCCTC	0.577																																						ENST00000241337.4																			1	Substitution - Missense(1)	p.S201I(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(601-603)aGc>aTc		glutathione S-transferase mu 2 (muscle)							145.0	127.0	133.0					1																	110217403		2201	4298	6499	SO:0001583	missense	2946							g.chr1:110217403G>T	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.602G>T	1.37:g.110217403G>T	ENSP00000241337:p.Ser201Ile					GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I|GSTM2_ENST00000414179.2_Intron	p.S201I	NM_000848.3	NP_000839.1				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	652	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.602G>T	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256587	0.22965	.	.	ENSG00000213366	ENST00000369827;ENST00000241337	T;T	0.03920	3.76;3.76	3.32	1.34	0.21922	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.540049	0.18310	U	0.145123	T	0.03959	0.0111	M	0.92604	3.325	0.09310	N	1	B;B	0.30686	0.29;0.193	B;B	0.32465	0.146;0.095	T	0.18999	-1.0319	10	0.62326	D	0.03	.	4.0318	0.09713	0.1406:0.2506:0.6088:0.0	.	201;201	P28161;Q0D2I8	GSTM2_HUMAN;.	I	162;201	ENSP00000358842:S162I;ENSP00000241337:S201I	ENSP00000241337:S201I	S	+	2	0	GSTM2	110018926	0.976000	0.34144	0.544000	0.28141	0.168000	0.22595	0.788000	0.26872	0.700000	0.31782	-0.479000	0.04858	AGC		0.577	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		20	137	1	0	5.61819e-17	0.693898	6.57536e-17	20	137				
EPRS	2058	broad.mit.edu	37	1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:220205767C>G	ENST00000366923.3	-	5	759	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	164	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CACTTGGTACCTACTGACTGG	0.438																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(490-492)Ggt>Cgt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						116.0	105.0	108.0					1																	220205767		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220205767C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.490G>C	1.37:g.220205767C>G	ENSP00000355890:p.Gly164Arg						p.G164R	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	5	759	-			164			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.490G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934818	0.52866	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06849	3.25	5.84	4.93	0.64822	.	0.049607	0.85682	D	0.000000	T	0.15998	0.0385	M	0.67953	2.075	0.47123	D	0.999328	P;P	0.42010	0.768;0.558	P;B	0.47573	0.55;0.155	T	0.03344	-1.1046	10	0.25106	T	0.35	-15.8256	13.0492	0.58944	0.0:0.9259:0.0:0.0741	.	164;164	Q3KQZ8;P07814	.;SYEP_HUMAN	R	164	ENSP00000355890:G164R	ENSP00000355890:G164R	G	-	1	0	EPRS	218272390	0.912000	0.30974	0.311000	0.25182	0.817000	0.46193	2.850000	0.48294	1.480000	0.48289	0.557000	0.71058	GGT		0.438	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		4	127	0	0	0	0.150653	0	4	127				
DDHD1	80821	broad.mit.edu	37	14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:53513502T>C	ENST00000323669.5	-	13	2686	c.2687A>G	c.(2686-2688)aAt>aGt	p.N896S	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.N868S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	896					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N868S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGGATCTAAATTGGGTTTTGC	0.388																																						ENST00000357758.3																			1	Substitution - Missense(1)	p.N868S(1)	prostate(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2602-2604)aAt>aGt		DDHD domain containing 1							153.0	135.0	141.0					14																	53513502		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53513502T>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2687A>G	14.37:g.53513502T>C	ENSP00000327104:p.Asn896Ser					DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S|DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S	p.N868S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			12	2786	-	Breast(41;0.037)		896			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2603A>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	4.807	0.149952	0.09185	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	-5.14	0.02875	.	0.635988	0.18055	N	0.153130	T	0.14830	0.0358	N	0.02802	-0.49	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26849	-1.0091	9	0.06365	T	0.9	-1.3423	16.1662	0.81757	0.0:0.5904:0.0:0.4096	.	875;896;868	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	896;875;868;767	.	ENSP00000327104:N896S	N	-	2	0	DDHD1	52583252	0.000000	0.05858	0.139000	0.22197	0.903000	0.53119	-0.966000	0.03825	-1.007000	0.03408	0.459000	0.35465	AAT		0.388	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			25	133	0	0	0	0.667858	0	25	133				
ATM	472	broad.mit.edu	37	11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:108170450G>C	ENST00000452508.2	+	35	5204	c.5015G>C	c.(5014-5016)gGa>gCa	p.G1672A	ATM_ENST00000278616.4_Missense_Mutation_p.G1672A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1672					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G1672A(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGGCTGTTGGAAGCTGCTTG	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.G1672A(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5014-5016)gGa>gCa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							100.0	108.0	105.0					11																	108170450		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108170450G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5015G>C	11.37:g.108170450G>C	ENSP00000388058:p.Gly1672Ala	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G1672A	p.G1672A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	34	5400	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1672					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5015G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921587	0.52653	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.71103	-0.54;-0.54	5.47	4.54	0.55810	Armadillo-type fold (1);	0.048152	0.85682	N	0.000000	T	0.64929	0.2643	L	0.60455	1.87	0.51767	D	0.999939	B	0.32467	0.372	B	0.27715	0.082	T	0.61667	-0.7016	10	0.20519	T	0.43	.	16.0856	0.81045	0.0:0.1343:0.8657:0.0	.	1672	Q13315	ATM_HUMAN	A	1672	ENSP00000278616:G1672A;ENSP00000388058:G1672A	ENSP00000278616:G1672A	G	+	2	0	ATM	107675660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	1.264000	0.44198	0.650000	0.86243	GGA		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		30	209	0	0	0	0.788014	0	30	209				
KRT4	3851	broad.mit.edu	37	12	53201573	53201573	+	Missense_Mutation	SNP	G	G	A	rs372301476		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:53201573G>A	ENST00000551956.1	-	7	1693	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	KRT4_ENST00000293774.4_Missense_Mutation_p.R475C|KRT4_ENST00000458244.2_Missense_Mutation_p.R381C			P19013	K2C4_HUMAN	keratin 4	415	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R475C(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCTCTACGCGCTTGCTGTGG	0.557																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			2	Substitution - Missense(2)	p.R475C(2)	large_intestine(1)|prostate(1)	endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1423-1425)Cgc>Tgc		keratin 4		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	85.0		1201	3.5	0.9	12		85	0,8600		0,0,4300	no	missense	KRT4	NM_002272.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	401/521	53201573	1,13005	2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53201573G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1201C>T	12.37:g.53201573G>A	ENSP00000448220:p.Arg401Cys					KRT4_ENST00000458244.2_Missense_Mutation_p.R381C|KRT4_ENST00000551956.1_Missense_Mutation_p.R401C	p.R475C			B4DRS2	B4DRS2_HUMAN			7	1693	-			401					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1423C>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898951	0.72754	2.27E-4	0.0	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.88741	-2.42;-2.42;-2.42	5.47	3.54	0.40534	Filament (1);	0.665977	0.13461	N	0.386132	D	0.88720	0.6513	L	0.34521	1.04	0.40782	D	0.983188	D	0.61080	0.989	P	0.59595	0.86	D	0.87468	0.2412	10	0.87932	D	0	.	8.2945	0.31978	0.1415:0.1289:0.7296:0.0	.	415	P19013	K2C4_HUMAN	C	401;475;381	ENSP00000448220:R401C;ENSP00000293774:R475C;ENSP00000387904:R381C	ENSP00000293774:R475C	R	-	1	0	KRT4	51487840	0.731000	0.28111	0.872000	0.34217	0.826000	0.46750	2.345000	0.44018	1.459000	0.47892	0.561000	0.74099	CGC		0.557	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		18	88	0	0	0	0.624587	0	18	88				
ALOXE3	59344	broad.mit.edu	37	17	8013483	8013483	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:8013483C>A	ENST00000448843.2	-	10	1572	c.1232G>T	c.(1231-1233)tGc>tTc	p.C411F	ALOXE3_ENST00000380149.1_Missense_Mutation_p.C567F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.C543F	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	411	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAAATGCGTGCACAGAAAGTG	0.637											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(1699-1701)tGc>tTc		arachidonate lipoxygenase 3							49.0	37.0	41.0					17																	8013483		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8013483C>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1232G>T	17.37:g.8013483C>A	ENSP00000400581:p.Cys411Phe		OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	ALOXE3_ENST00000448843.2_Missense_Mutation_p.C411F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.C543F	p.C567F			Q9BYJ1	LOXE3_HUMAN			9	1730	-			411			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1700G>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796402	0.31777	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.76060	-0.99;-0.99;-0.99	4.53	4.53	0.55603	Lipoxygenase, C-terminal (4);	0.102388	0.64402	D	0.000002	T	0.58090	0.2098	N	0.03050	-0.425	0.39619	D	0.970003	B;P;P	0.35077	0.063;0.483;0.483	B;P;P	0.45232	0.03;0.474;0.474	T	0.64927	-0.6292	10	0.51188	T	0.08	-23.8075	9.8908	0.41290	0.0:0.905:0.0:0.095	.	543;411;411	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	F	567;543;411	ENSP00000369494:C567F;ENSP00000314879:C543F;ENSP00000400581:C411F	ENSP00000314879:C543F	C	-	2	0	ALOXE3	7954208	0.913000	0.31002	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	2.342000	0.79632	0.643000	0.83706	TGC		0.637	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			3	49	1	0	6.4e-05	0.115264	7.12113e-05	3	49				
CNNM1	26507	broad.mit.edu	37	10	101120671	101120671	+	Silent	SNP	G	G	A	rs61735150	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:101120671G>A	ENST00000356713.4	+	3	2086	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	CNNM1_ENST00000370534.4_Silent_p.T234T|CNNM1_ENST00000370528.3_Silent_p.T528T|CNNM1_ENST00000446890.1_Silent_p.T528T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTTCGGACACGGAGATGCGGG	0.542													G|||	20	0.00399361	0.0144	0.0014	5008	,	,		20089	0.0		0.0	False		,,,				2504	0.0					ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1795-1797)acG>acA		cyclin M1		G		86,4320	72.5+/-110.5	0,86,2117	117.0	111.0	113.0		1797	-11.5	0.0	10	dbSNP_129	113	0,8600		0,0,4300	no	coding-synonymous	CNNM1	NM_020348.2		0,86,6417	AA,AG,GG		0.0,1.9519,0.6612		599/952	101120671	86,12920	2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120671G>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1797G>A	10.37:g.101120671G>A						CNNM1_ENST00000370528.3_Silent_p.T528T|CNNM1_ENST00000370534.4_Silent_p.T234T|CNNM1_ENST00000446890.1_Silent_p.T528T	p.T599T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2086	+		Colorectal(252;0.234)	599					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.1797G>A	CCDS7478.2																																																																																				0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		8	237	0	0	0	0.307466	0	8	237				
EIF2AK3	9451	broad.mit.edu	37	2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:88870483T>A	ENST00000303236.3	-	14	3195	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	965	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D965V(2)		ovary(3)	3						CTCTTCCTCATCCTGGTCCAT	0.463																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			2	Substitution - Missense(2)	p.D965V(2)	prostate(2)	ovary(3)	3						c.(2893-2895)gAt>gTt		eukaryotic translation initiation factor 2-alpha kinase 3							272.0	230.0	244.0					2																	88870483		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870483T>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2894A>T	2.37:g.88870483T>A	ENSP00000307235:p.Asp965Val					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	p.D965V	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			14	3195	-			965			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2894A>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858899	0.91433	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.20069	2.1;2.1;2.1	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	P	0.54759	0.76	T	0.01428	-1.1357	10	0.32370	T	0.25	-29.1053	16.3264	0.82983	0.0:0.0:0.0:1.0	.	965	Q9NZJ5	E2AK3_HUMAN	V	814;965;814;844	ENSP00000408325:D814V;ENSP00000307235:D965V;ENSP00000412076:D844V	ENSP00000307235:D965V	D	-	2	0	EIF2AK3	88651598	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	8.040000	0.89188	2.259000	0.74868	0.374000	0.22700	GAT		0.463	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		39	252	0	0	0	0.812448	0	39	252				
ASIC4	55515	broad.mit.edu	37	2	220396490	220396490	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396490G>A	ENST00000347842.3	+	2	988	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ASIC4_ENST00000358078.4_Missense_Mutation_p.R325H|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GTCTATACTCGCTATGGGAAG	0.632																																						ENST00000358078.4																			0											c.(973-975)cGc>cAc		acid-sensing (proton-gated) ion channel family member 4							62.0	65.0	64.0					2																	220396490		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396490G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.974G>A	2.37:g.220396490G>A	ENSP00000326627:p.Arg325His					ASIC4_ENST00000347842.3_Missense_Mutation_p.R325H|ASIC4_ENST00000473709.1_3'UTR	p.R325H			Q96FT7	ACCN4_HUMAN			2	988	+			325					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.974G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688054	0.88639	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.66099	-0.19;-0.19	3.16	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	M	0.75615	2.305	0.58432	D	0.999998	D;P;D	0.89917	0.998;0.946;1.0	D;P;D	0.67725	0.928;0.606;0.953	T	0.80084	-0.1530	10	0.54805	T	0.06	-1.1816	15.1743	0.72899	0.0:0.0:1.0:0.0	.	325;325;325	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	H	325	ENSP00000326627:R325H;ENSP00000350786:R325H	ENSP00000326627:R325H	R	+	2	0	ACCN4	220104734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.551000	0.98112	2.079000	0.62486	0.561000	0.74099	CGC		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		7	208	0	0	0	0.278610	0	7	208				
C19orf57	79173	broad.mit.edu	37	19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:14015677G>A	ENST00000586783.1	-	1	28	c.29C>T	c.(28-30)tCa>tTa	p.S10L	C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|CC2D1A_ENST00000589606.1_5'Flank|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000454313.1_Missense_Mutation_p.S10L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	10					multicellular organismal development (GO:0007275)			p.S10L(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACGTACCTGAGGTCCGCAG	0.413																																						ENST00000454313.1																			1	Substitution - Missense(1)	p.S10L(1)	prostate(1)	breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(28-30)tCa>tTa		chromosome 19 open reading frame 57							209.0	179.0	189.0					19																	14015677		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14015677G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.29C>T	19.37:g.14015677G>A	ENSP00000465822:p.Ser10Leu					C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L|C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L	p.S10L			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	87	-			10					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	G	16.05	3.011897	0.54468	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.26957	1.7;1.7	4.67	4.67	0.58626	.	0.290400	0.18850	N	0.129438	T	0.37046	0.0989	L	0.32530	0.975	0.37494	D	0.916487	D	0.71674	0.998	D	0.66979	0.948	T	0.19582	-1.0301	10	0.44086	T	0.13	-12.9188	12.9214	0.58234	0.0:0.0:1.0:0.0	.	10	Q0VDD7-2	.	L	10	ENSP00000404382:S10L;ENSP00000254336:S10L	ENSP00000254336:S10L	S	-	2	0	C19orf57	13876677	0.996000	0.38824	0.985000	0.45067	0.225000	0.24961	3.844000	0.55873	2.430000	0.82344	0.655000	0.94253	TCA		0.413	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		27	155	0	0	0	0.706142	0	27	155				
CCR4	1233	broad.mit.edu	37	3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:32995672G>T	ENST00000330953.5	+	2	926	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	253					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTCTTCCTTGGGTTCTGGACA	0.468																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(757-759)gGg>gTg		chemokine (C-C motif) receptor 4							110.0	97.0	102.0					3																	32995672		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995672G>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.758G>T	3.37:g.32995672G>T	ENSP00000332659:p.Gly253Val						p.G253V	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	926	+			253					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.758G>T	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823402	0.32237	.	.	ENSG00000183813	ENST00000330953	T	0.30182	1.54	5.93	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.384697	0.22054	N	0.065270	T	0.09730	0.0239	N	0.00392	-1.555	0.22050	N	0.999394	B	0.09022	0.002	B	0.08055	0.003	T	0.16778	-1.0391	10	0.51188	T	0.08	.	11.533	0.50620	0.0:0.0:0.6338:0.3662	.	253	P51679	CCR4_HUMAN	V	253	ENSP00000332659:G253V	ENSP00000332659:G253V	G	+	2	0	CCR4	32970676	0.959000	0.32827	0.575000	0.28536	0.987000	0.75469	3.284000	0.51708	2.815000	0.96918	0.561000	0.74099	GGG		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			4	112	1	0	0.00024832	0.150653	0.000270583	4	112				
KIF1B	23095	broad.mit.edu	37	1	10292482	10292482	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:10292482C>T	ENST00000377086.1	+	2	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377081.1_Silent_p.G32G			O60333	KIF1B_HUMAN	kinesin family member 1B	32	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G32G(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGCAAGGCAACTCGACCA	0.458																																						ENST00000377086.1																			2	Substitution - coding silent(2)	p.G32G(2)	prostate(2)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(94-96)ggC>ggT		kinesin family member 1B							118.0	101.0	107.0					1																	10292482		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10292482C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.96C>T	1.37:g.10292482C>T						KIF1B_ENST00000377093.4_Silent_p.G32G|KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377081.1_Silent_p.G32G	p.G32G			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	2	298	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	32			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.96C>T																																																																																					0.458	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	28	0	0	0	0.217242	0	6	28				
CYB5R4	51167	broad.mit.edu	37	6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:84649905G>C	ENST00000369681.5	+	13	1379	c.1239G>C	c.(1237-1239)ttG>ttC	p.L413F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	413					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.L413F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTATGCTTTGACTGATATAC	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			1	Substitution - Missense(1)	p.L413F(1)	prostate(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1237-1239)ttG>ttC		cytochrome b5 reductase 4							76.0	78.0	77.0					6																	84649905		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84649905G>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1239G>C	6.37:g.84649905G>C	ENSP00000358695:p.Leu413Phe					CYB5R4_ENST00000479164.1_3'UTR	p.L413F	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	13	1379	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	413					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.1239G>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847307	0.51164	.	.	ENSG00000065615	ENST00000369681	D	0.87809	-2.3	5.93	2.19	0.27852	Oxidoreductase FAD/NAD(P)-binding (1);	0.131990	0.50627	D	0.000110	D	0.88621	0.6486	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87212	0.2248	10	0.54805	T	0.06	-19.672	9.2417	0.37500	0.3418:0.0:0.6582:0.0	.	413	Q7L1T6	NB5R4_HUMAN	F	413	ENSP00000358695:L413F	ENSP00000358695:L413F	L	+	3	2	CYB5R4	84706624	1.000000	0.71417	0.767000	0.31495	0.636000	0.38137	2.020000	0.41010	0.116000	0.18110	0.655000	0.94253	TTG		0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		31	166	0	0	0	0.769981	0	31	166				
IPO8	10526	broad.mit.edu	37	12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818715T>A	ENST00000256079.4	-	12	1624	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	429					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.K429M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATCTTTCTTCCTAGGGTC	0.358																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.K429M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1285-1287)aAg>aTg		importin 8							101.0	104.0	103.0					12																	30818715		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818715T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1286A>T	12.37:g.30818715T>A	ENSP00000256079:p.Lys429Met					IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	p.K429M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			12	1624	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		429					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1286A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636369	0.67130	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.67171	-0.25;-0.25	4.62	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.092714	0.85682	D	0.000000	T	0.79064	0.4383	M	0.66939	2.045	0.42102	D	0.991344	D;D	0.71674	0.998;0.998	D;D	0.70016	0.95;0.967	T	0.81697	-0.0815	10	0.62326	D	0.03	-25.6349	14.4591	0.67438	0.0:0.0:0.0:1.0	.	224;429	B7Z7M3;O15397	.;IPO8_HUMAN	M	429;224	ENSP00000256079:K429M;ENSP00000444520:K224M	ENSP00000256079:K429M	K	-	2	0	IPO8	30709982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.742000	0.47434	2.064000	0.61679	0.477000	0.44152	AAG		0.358	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		22	134	0	0	0	0.654019	0	22	134				
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	rs140529367		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:119003545C>G	ENST00000298472.5	+	3	328	c.185C>G	c.(184-186)aCg>aGg	p.T62R	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(184-186)aCg>aGg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						85.0	74.0	78.0					10																	119003545		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003545C>G	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.185C>G	10.37:g.119003545C>G	ENSP00000298472:p.Thr62Arg					SLC18A2_ENST00000497497.1_3'UTR	p.T62R	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	328	+		Colorectal(252;0.19)	62					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.185C>G	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	1.910	-0.450872	0.04572	.	.	ENSG00000165646	ENST00000298472	T	0.03801	3.8	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268601	0.40640	N	0.001041	T	0.04679	0.0127	N	0.17379	0.485	0.40098	D	0.976339	B	0.17465	0.022	B	0.21917	0.037	T	0.52771	-0.8531	10	0.20046	T	0.44	-28.1579	18.2891	0.90123	0.0:1.0:0.0:0.0	.	62	Q05940	VMAT2_HUMAN	R	62	ENSP00000298472:T62R	ENSP00000298472:T62R	T	+	2	0	SLC18A2	118993535	0.997000	0.39634	0.961000	0.40146	0.036000	0.12997	3.803000	0.55560	2.756000	0.94617	0.563000	0.77884	ACG		0.493	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		3	75	0	0	0	0.115264	0	3	75				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	81	0	0	0	0.217242	0	4	81				
RUNX1T1	862	broad.mit.edu	37	8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:93017401T>C	ENST00000523629.1	-	6	1137	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	228					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCTGAGGAGTCAACAGGTGA	0.572																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(682-684)gAc>gGc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							189.0	157.0	168.0					8																	93017401		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017401T>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.683A>G	8.37:g.93017401T>C	ENSP00000428543:p.Asp228Gly					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G	p.D228G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1137	-			228					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.683A>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.971695	0.92919	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992	T;T;T;T;T;T;T;T;T;T	0.63255	0.93;0.92;0.93;0.95;0.95;0.95;0.91;0.92;0.42;-0.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.98;0.965;0.999	T	0.82617	-0.0369	10	0.87932	D	0	-23.5869	15.8933	0.79318	0.0:0.0:0.0:1.0	.	239;228;201	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	G	228;201;228;191;191;191;239;201;191;228	ENSP00000428543:D228G;ENSP00000379520:D201G;ENSP00000265814:D228G;ENSP00000353504:D191G;ENSP00000390137:D191G;ENSP00000428742:D191G;ENSP00000402257:D239G;ENSP00000430728:D201G;ENSP00000429728:D191G;ENSP00000431094:D228G	ENSP00000265814:D228G	D	-	2	0	RUNX1T1	93086577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.289000	0.72696	2.158000	0.67659	0.533000	0.62120	GAC		0.572	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		12	268	0	0	0	0.411799	0	12	268				
SYT4	6860	broad.mit.edu	37	18	40853620	40853620	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:40853620T>A	ENST00000255224.3	-	2	1142	c.774A>T	c.(772-774)ctA>ctT	p.L258L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	258	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAGAGGAATTAGAACTTCCC	0.353																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(772-774)ctA>ctT		synaptotagmin IV							50.0	53.0	52.0					18																	40853620		2201	4300	6501	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853620T>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.774A>T	18.37:g.40853620T>A						SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	p.L258L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	1142	-			258			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.774A>T	CCDS11922.1																																																																																				0.353	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		4	127	0	0	0	0.150653	0	4	127				
CDH19	28513	broad.mit.edu	37	18	64239269	64239269	+	Missense_Mutation	SNP	G	G	A	rs538411423		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:64239269G>A	ENST00000540086.1	-	2	419	c.173C>T	c.(172-174)aCg>aTg	p.T58M	CDH19_ENST00000262150.2_Missense_Mutation_p.T58M	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	158	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T58M(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGACTAGTCGTATTCATTTC	0.373																																						ENST00000262150.2																			1	Substitution - Missense(1)	p.T58M(1)	prostate(1)	NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(172-174)aCg>aTg		cadherin 19, type 2							97.0	90.0	92.0					18																	64239269		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64239269G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.173C>T	18.37:g.64239269G>A	ENSP00000439593:p.Thr58Met					CDH19_ENST00000540086.1_Missense_Mutation_p.T58M	p.T58M	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			2	465	-		Esophageal squamous(42;0.0132)	58			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.173C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362561	0.24684	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.58358	0.34;0.34	5.83	-2.16	0.07080	Cadherin (2);Cadherin-like (1);	0.867999	0.10108	N	0.715093	T	0.33089	0.0851	N	0.20807	0.61	0.09310	N	1	P;P	0.51449	0.945;0.914	B;B	0.43251	0.289;0.413	T	0.28202	-1.0051	10	0.87932	D	0	.	4.5431	0.12067	0.0678:0.3189:0.3007:0.3126	.	58;58	F5H1K0;Q9H159	.;CAD19_HUMAN	M	58;58;3	ENSP00000262150:T58M;ENSP00000439593:T58M	ENSP00000262150:T58M	T	-	2	0	CDH19	62390249	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.328000	0.07945	0.042000	0.15717	0.655000	0.94253	ACG		0.373	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		21	109	0	0	0	0.624587	0	21	109				
KAT6A	7994	broad.mit.edu	37	8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:41845068G>A	ENST00000396930.3	-	4	1157	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	205	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATGGGGATTGGTTCAGCAAC	0.378																																						ENST00000396930.3																			0											c.(613-615)cCa>cTa		K(lysine) acetyltransferase 6A							212.0	233.0	226.0					8																	41845068		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41845068G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.614C>T	8.37:g.41845068G>A	ENSP00000380136:p.Pro205Leu					KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L	p.P205L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			4	1157	-			205					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.614C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969316	0.53614	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000013	D	0.93314	0.7869	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93795	0.7096	10	0.87932	D	0	-15.6931	17.6767	0.88232	0.0:0.0:1.0:0.0	.	205;205	A5PLL3;Q92794	.;KAT6A_HUMAN	L	205	ENSP00000265713:P205L;ENSP00000385888:P205L;ENSP00000380136:P205L;ENSP00000430606:P205L	ENSP00000265713:P205L	P	-	2	0	KAT6A	41964225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.414000	0.97362	2.598000	0.87819	0.591000	0.81541	CCA		0.378	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		13	549	0	0	0	0.435327	0	13	549				
MED13L	23389	broad.mit.edu	37	12	116457671	116457671	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:116457671C>T	ENST00000281928.3	-	6	938	c.732G>A	c.(730-732)ccG>ccA	p.P244P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	244						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P244P(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTAGCACCATCGGGTAGAAAT	0.418																																						ENST00000281928.3																			1	Substitution - coding silent(1)	p.P244P(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(730-732)ccG>ccA		mediator complex subunit 13-like							175.0	157.0	163.0					12																	116457671		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116457671C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.732G>A	12.37:g.116457671C>T							p.P244P	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	6	938	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		244					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.732G>A	CCDS9177.1																																																																																				0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			63	158	0	0	0	0.870114	0	63	158				
GSTM2	2946	broad.mit.edu	37	1	110217413	110217413	+	Silent	SNP	C	C	G	rs376043733		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217413C>G	ENST00000241337.4	+	8	662	c.612C>G	c.(610-612)ctC>ctG	p.L204L	GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L|GSTM2_ENST00000442650.1_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	204	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L204L(2)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCGCTTCCTCCCAAGACCTG	0.582																																						ENST00000241337.4																			2	Substitution - coding silent(2)	p.L204L(2)	prostate(1)|kidney(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(610-612)ctC>ctG		glutathione S-transferase mu 2 (muscle)							170.0	148.0	155.0					1																	110217413		2202	4298	6500	SO:0001819	synonymous_variant	2946							g.chr1:110217413C>G	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.612C>G	1.37:g.110217413C>G						GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L|GSTM2_ENST00000414179.2_Intron	p.L204L	NM_000848.3	NP_000839.1				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	662	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.612C>G	CCDS808.1																																																																																				0.582	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		23	146	0	0	0	0.717897	0	23	146				
STK17A	9263	broad.mit.edu	37	7	43659292	43659292	+	Nonsense_Mutation	SNP	C	C	T	rs149915695		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:43659292C>T	ENST00000319357.5	+	4	840	c.661C>T	c.(661-663)Cga>Tga	p.R221*	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R221*(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAAGAGCTCCGAGAAATTAT	0.403																																						ENST00000319357.5																			2	Substitution - Nonsense(2)	p.R221*(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(661-663)Cga>Tga		serine/threonine kinase 17a		C	stop/ARG	0,4406		0,0,2203	156.0	154.0	155.0		661	0.4	1.0	7	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	STK17A	NM_004760.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		221/415	43659292	2,13004	2203	4300	6503	SO:0001587	stop_gained	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43659292C>T	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.661C>T	7.37:g.43659292C>T	ENSP00000319192:p.Arg221*					STK17A_ENST00000462448.1_3'UTR	p.R221*	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN			4	840	+			221			Protein kinase.		A4D1V6|Q8IVC8	Nonsense_Mutation	SNP	ENST00000319357.5	37	c.661C>T	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948990	0.92660	0.0	2.33E-4	ENSG00000164543	ENST00000319357	.	.	.	5.16	0.375	0.16188	.	0.000000	0.41194	D	0.000928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	9.6466	0.39872	0.4536:0.4633:0.0:0.0832	.	.	.	.	X	221	.	ENSP00000319192:R221X	R	+	1	2	STK17A	43625817	0.895000	0.30542	0.983000	0.44433	0.998000	0.95712	1.432000	0.34936	0.124000	0.18369	0.563000	0.77884	CGA		0.403	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		48	388	0	0	0	0.870114	0	48	388				
C10orf99	387695	broad.mit.edu	37	10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:85933664C>G	ENST00000372126.3	+	1	171	c.57C>G	c.(55-57)atC>atG	p.I19M		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	19						extracellular region (GO:0005576)		p.I19M(1)|p.I19I(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTTCTCCATCTTCTCCACAG	0.547																																						ENST00000372126.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I19M(1)|p.I19I(1)	prostate(1)|pancreas(1)	endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(55-57)atC>atG		chromosome 10 open reading frame 99							215.0	169.0	185.0					10																	85933664		2203	4300	6503	SO:0001583	missense	387695					extracellular region		g.chr10:85933664C>G	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.57C>G	10.37:g.85933664C>G	ENSP00000361199:p.Ile19Met						p.I19M	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN			1	171	+			19						Missense_Mutation	SNP	ENST00000372126.3	37	c.57C>G	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	C	1.234	-0.623320	0.03636	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.71	2.79	0.32731	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.09310	N	0.999998	P	0.39624	0.681	B	0.39419	0.299	T	0.16188	-1.0411	7	0.66056	D	0.02	.	6.4668	0.21985	0.0:0.8633:0.0:0.1367	.	19	Q6UWK7	CJ099_HUMAN	M	19	.	ENSP00000361199:I19M	I	+	3	3	C10orf99	85923644	0.819000	0.29175	0.328000	0.25416	0.374000	0.29953	1.809000	0.38922	1.102000	0.41551	0.650000	0.86243	ATC		0.547	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		25	251	0	0	0	0.681144	0	25	251				
DGAT1	8694	broad.mit.edu	37	8	145541933	145541933	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:145541933C>T	ENST00000332324.4	-	7	940	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	DGAT1_ENST00000531896.1_Missense_Mutation_p.A223T|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	223					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)	p.A223T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCAGCCTTGGCCCTGGCCCTG	0.692																																						ENST00000332324.4																			1	Substitution - Missense(1)	p.A223T(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(667-669)Gcc>Acc		diacylglycerol O-acyltransferase 1							26.0	28.0	27.0					8																	145541933		2202	4294	6496	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541933C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.667G>A	8.37:g.145541933C>T	ENSP00000332258:p.Ala223Thr					DGAT1_ENST00000531896.1_Missense_Mutation_p.A223T	p.A223T	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	940	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		223					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.667G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074668	0.08485	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T	0.31510	1.49	5.29	0.826	0.18829	.	0.372171	0.27932	N	0.017261	T	0.19725	0.0474	L	0.46614	1.455	0.09310	N	0.999997	B;B	0.26775	0.159;0.011	B;B	0.23018	0.043;0.026	T	0.20974	-1.0259	10	0.15066	T	0.55	-24.9747	6.205	0.20598	0.1371:0.602:0.0:0.261	.	223;223	E9PS80;O75907	.;DGAT1_HUMAN	T	223	ENSP00000332258:A223T	ENSP00000332258:A223T	A	-	1	0	DGAT1	145512741	0.065000	0.20965	0.003000	0.11579	0.003000	0.03518	0.153000	0.16323	0.226000	0.20979	-0.324000	0.08512	GCC		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		8	51	0	0	0	0.307466	0	8	51				
CHFR	55743	broad.mit.edu	37	12	133428223	133428223	+	Silent	SNP	C	C	T	rs142511371		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:133428223C>T	ENST00000432561.2	-	12	1582	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000266880.7_Silent_p.P502P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000450056.2_Silent_p.P491P			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	503					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P462P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657																																						ENST00000266880.7																			1	Substitution - coding silent(1)	p.P462P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1504-1506)ccG>ccA		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase		C	,,,,	0,4406		0,0,2203	83.0	90.0	87.0		1509,1506,1473,1233,1386	-6.4	0.0	12	dbSNP_134	87	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHFR	NM_001161344.1,NM_001161345.1,NM_001161346.1,NM_001161347.1,NM_018223.2	,,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,,	503/665,502/664,491/653,411/573,462/624	133428223	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428223C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1509G>A	12.37:g.133428223C>T						CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Silent_p.P503P	p.P502P			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	13	1569	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	503					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	ENST00000432561.2	37	c.1506G>A	CCDS53849.1																																																																																				0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			58	292	0	0	0	0.870114	0	58	292				
ZSWIM5	57643	broad.mit.edu	37	1	45484152	45484152	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:45484152G>A	ENST00000359600.5	-	14	3737	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1178						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCACCAGCAGCATCAACTTT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3532-3534)Ctg>Ttg		zinc finger, SWIM-type containing 5							103.0	102.0	102.0					1																	45484152		2025	4182	6207	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45484152G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3532C>T	1.37:g.45484152G>A			OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.L1178L	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	3737	-	Acute lymphoblastic leukemia(166;0.155)		1178					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.3532C>T	CCDS41319.1																																																																																				0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		5	243	0	0	0	0.184627	0	5	243				
PTH2R	5746	broad.mit.edu	37	2	209302260	209302260	+	Splice_Site	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:209302260A>T	ENST00000272847.2	+	3	391		c.e3-1		PTH2R_ENST00000413482.1_Splice_Site	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTTTCTCATTAGAAGGTAATT	0.348																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.e3-1		parathyroid hormone 2 receptor							51.0	54.0	53.0					2																	209302260		2198	4299	6497	SO:0001630	splice_region_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302260A>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.179-1A>T	2.37:g.209302260A>T						PTH2R_ENST00000413482.1_Splice_Site		NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	3	391	+								Q8N429	Splice_Site	SNP	ENST00000272847.2	37		CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553764	0.27739	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0249	0.64580	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTH2R	209010505	1.000000	0.71417	0.714000	0.30535	0.016000	0.09150	6.392000	0.73213	2.254000	0.74563	0.460000	0.39030	.		0.348	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	Intron	4	141	0	0	0	0.150653	0	4	141				
SLCO2A1	6578	broad.mit.edu	37	3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:133672578C>G	ENST00000310926.4	-	5	926	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	218					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GAAAGCCGGTCCAAATACAGA	0.517																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(652-654)gGa>gCa		solute carrier organic anion transporter family, member 2A1							89.0	88.0	88.0					3																	133672578		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133672578C>G		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.653G>C	3.37:g.133672578C>G	ENSP00000311291:p.Gly218Ala					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A	p.G218A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			5	926	-			218					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.653G>C	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856941	0.71834	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.80909	-1.43;-1.43	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.987;1.0;0.986	D	0.92105	0.5691	10	0.72032	D	0.01	.	19.1817	0.93627	0.0:1.0:0.0:0.0	.	218;142;218	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	A	218;142	ENSP00000311291:G218A;ENSP00000418893:G142A	ENSP00000311291:G218A	G	-	2	0	SLCO2A1	135155268	1.000000	0.71417	0.426000	0.26672	0.996000	0.88848	7.137000	0.77295	2.526000	0.85167	0.561000	0.74099	GGA		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		3	73	0	0	0	0.115264	0	3	73				
BFSP1	631	broad.mit.edu	37	20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:17475376C>A	ENST00000377873.3	-	8	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N|BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	447	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.K447N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCCTTGACCTTCCTGTATA	0.527																																						ENST00000377873.3																			1	Substitution - Missense(1)	p.K447N(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1339-1341)aaG>aaT		beaded filament structural protein 1, filensin							122.0	122.0	122.0					20																	17475376		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475376C>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1341G>T	20.37:g.17475376C>A	ENSP00000367104:p.Lys447Asn					BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N	p.K447N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1380	-			447			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1341G>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210917	0.22289	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.21	3.04	0.35103	.	0.401550	0.28784	N	0.014153	T	0.26919	0.0659	N	0.19112	0.55	0.20563	N	0.999881	B;B	0.25719	0.053;0.132	B;B	0.24701	0.053;0.055	T	0.25293	-1.0136	10	0.72032	D	0.01	-11.1024	9.0518	0.36380	0.1852:0.7218:0.0:0.093	.	322;447	Q12934-2;Q12934	.;BFSP1_HUMAN	N	447;322;308;308	ENSP00000367104:K447N;ENSP00000367099:K322N;ENSP00000442522:K308N;ENSP00000439870:K308N	ENSP00000367099:K322N	K	-	3	2	BFSP1	17423376	0.898000	0.30612	0.938000	0.37757	0.311000	0.27955	0.338000	0.19858	1.143000	0.42306	0.655000	0.94253	AAG		0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		35	217	1	0	6.29468e-14	0.804634	7.20696e-14	35	217				
RAE1	8480	broad.mit.edu	37	20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:55948566C>G	ENST00000395841.2	+	9	1098	c.678C>G	c.(676-678)aaC>aaG	p.N226K	RAE1_ENST00000395840.2_Missense_Mutation_p.N226K|RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	226					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.N226K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACAAACAGAACAAGCCTACTG	0.408																																						ENST00000395841.2																			1	Substitution - Missense(1)	p.N226K(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(676-678)aaC>aaG		ribonucleic acid export 1							117.0	117.0	117.0					20																	55948566		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948566C>G	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.678C>G	20.37:g.55948566C>G	ENSP00000379182:p.Asn226Lys					RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K	p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1098	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		226					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.678C>G	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	8.797	0.931995	0.18131	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	6.02	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.270986	0.47093	D	0.000249	T	0.26774	0.0655	N	0.00823	-1.155	0.46437	D	0.999044	P;B;B	0.40875	0.731;0.001;0.001	B;B;B	0.27262	0.078;0.0;0.0	T	0.52434	-0.8576	10	0.02654	T	1	-24.9704	9.7431	0.40431	0.0:0.7287:0.0:0.2713	.	226;226;226	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	K	226	ENSP00000379182:N226K;ENSP00000360286:N226K;ENSP00000432609:N226K;ENSP00000379181:N226K	ENSP00000360286:N226K	N	+	3	2	RAE1	55381973	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	1.694000	0.37752	0.893000	0.36288	-0.140000	0.14226	AAC		0.408	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			24	176	0	0	0	0.654019	0	24	176				
RERGL	79785	broad.mit.edu	37	12	18237549	18237549	+	Silent	SNP	C	C	A	rs201085120		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:18237549C>A	ENST00000229002.2	-	5	443	c.237G>T	c.(235-237)ggG>ggT	p.G79G	RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAACAAACCCATCTGCCC	0.408																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(235-237)ggG>ggT		RERG/RAS-like							146.0	140.0	142.0					12																	18237549		2203	4300	6503	SO:0001819	synonymous_variant	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237549C>A	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.237G>T	12.37:g.18237549C>A						RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Silent_p.G78G	p.G79G	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			5	443	-			79			Small GTPase-like.			Silent	SNP	ENST00000229002.2	37	c.237G>T	CCDS8679.1																																																																																				0.408	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		6	235	1	0	0.00116845	0.217242	0.00126448	6	235				
PDE1C	5137	broad.mit.edu	37	7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:31862740C>G	ENST00000396191.1	-	14	1984	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000396184.3_Missense_Mutation_p.W510S|PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	510	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.W510S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CACTTCCGTCCAAGTAGCTTT	0.488																																						ENST00000396184.3																			2	Substitution - Missense(2)	p.W510S(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1528-1530)tGg>tCg		phosphodiesterase 1C, calmodulin-dependent 70kDa							183.0	158.0	167.0					7																	31862740		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862740C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1529G>C	7.37:g.31862740C>G	ENSP00000379494:p.Trp510Ser					PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S	p.W510S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1733	-			510			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1529G>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102338	0.76983	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77750	-1.12;-1.09;-1.09;-1.0;-1.0	5.79	5.79	0.91817	.	0.510893	0.23033	N	0.052703	D	0.83995	0.5375	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.996;0.992;1.0	D;P;D	0.87578	0.949;0.889;0.998	D	0.84741	0.0751	10	0.66056	D	0.02	.	19.6158	0.95633	0.0:1.0:0.0:0.0	.	510;570;510	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	570;510;510;510;510	ENSP00000379496:W570S;ENSP00000379494:W510S;ENSP00000318105:W510S;ENSP00000379487:W510S;ENSP00000379485:W510S	ENSP00000318105:W510S	W	-	2	0	PDE1C	31829265	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.169000	0.77578	2.739000	0.93911	0.563000	0.77884	TGG		0.488	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			31	286	0	0	0	0.788014	0	31	286				
IL16	3603	broad.mit.edu	37	15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:81598322T>G	ENST00000302987.4	+	16	3494	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	IL16_ENST00000394652.2_Missense_Mutation_p.I464S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.I1165S			Q14005	IL16_HUMAN	interleukin 16	1165	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTCTTTCCATCAACGGCAAG	0.547																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3493-3495)aTc>aGc		interleukin 16							166.0	173.0	170.0					15																	81598322		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598322T>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3494T>G	15.37:g.81598322T>G	ENSP00000302935:p.Ile1165Ser					IL16_ENST00000394652.2_Missense_Mutation_p.I464S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.I1165S	p.I1165S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			17	3854	+			1165			Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3494T>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925441	0.52759	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.39592	1.07;1.07;1.07	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.47455	D	0.000221	T	0.76835	0.4043	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.999;0.974;0.998;1.0;0.994	D	0.85906	0.1437	10	0.87932	D	0	.	14.225	0.65853	0.0:0.0:0.0:1.0	.	997;658;702;555;1165;1165	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	1165;997;1165;702;555;464;464	ENSP00000378155:I1165S;ENSP00000302935:I1165S;ENSP00000378147:I464S	ENSP00000302935:I1165S	I	+	2	0	IL16	79385377	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.224000	0.78042	1.933000	0.56026	0.533000	0.62120	ATC		0.547	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		8	347	0	0	0	0.278610	0	8	347				
SEPT14	346288	broad.mit.edu	37	7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:55874871T>C	ENST00000388975.3	-	8	1014	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGTGTGGGTTTTTTCTTTT	0.353																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(898-900)Acc>Gcc		septin 14							111.0	105.0	107.0					7																	55874871		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874871T>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.898A>G	7.37:g.55874871T>C	ENSP00000373627:p.Thr300Ala						p.T300A	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1014	-	Breast(14;0.214)		300					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.898A>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451791	0.63290	.	.	ENSG00000154997	ENST00000388975	T	0.64618	-0.11	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000001	D	0.85656	0.5747	H	0.98883	4.36	0.44289	D	0.997152	D	0.89917	1.0	D	0.91635	0.999	D	0.88879	0.3338	10	0.87932	D	0	.	10.1685	0.42895	0.0:0.0:0.0:1.0	.	300	Q6ZU15	SEP14_HUMAN	A	300	ENSP00000373627:T300A	ENSP00000373627:T300A	T	-	1	0	SEPT14	55842365	1.000000	0.71417	0.033000	0.17914	0.858000	0.48976	6.131000	0.71670	1.720000	0.51447	0.455000	0.32223	ACC		0.353	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		5	194	0	0	0	0.217242	0	5	194				
CILP	8483	broad.mit.edu	37	15	65502037	65502037	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:65502037C>A	ENST00000261883.4	-	2	223	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	19					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.V19V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTATACCCAACACAGATGTGA	0.542																																						ENST00000261883.4																			1	Substitution - coding silent(1)	p.V19V(1)	prostate(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(55-57)gtG>gtT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							155.0	128.0	137.0					15																	65502037		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65502037C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.57G>T	15.37:g.65502037C>A							p.V19V	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			2	223	-			19					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.57G>T	CCDS10203.1																																																																																				0.542	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		10	83	1	0	2.62699e-14	0.479597	3.02966e-14	10	83				
PTPN13	5783	broad.mit.edu	37	4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:87671632C>T	ENST00000411767.2	+	18	2723	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L|PTPN13_ENST00000436978.1_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	887					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S887L(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAGAGCTTCGTTTAGGAGC	0.413																																						ENST00000436978.1																			2	Substitution - Missense(2)	p.S887L(2)	large_intestine(2)	NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2659-2661)tCg>tTg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							152.0	149.0	150.0					4																	87671632		1883	4121	6004	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87671632C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2660C>T	4.37:g.87671632C>T	ENSP00000407249:p.Ser887Leu					PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000411767.2_Missense_Mutation_p.S887L|PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L	p.S887L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3140	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	887					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2660C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319143	0.81469	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.54675	0.56;0.62;0.61;0.62	5.9	5.9	0.94986	.	0.000000	0.43110	D	0.000609	T	0.70753	0.3260	M	0.62723	1.935	0.49798	D	0.999821	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.64410	0.925;0.918;0.925	T	0.70182	-0.4942	10	0.59425	D	0.04	.	20.274	0.98482	0.0:1.0:0.0:0.0	.	887;887;887	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	L	887;887;887;887;855	ENSP00000408368:S887L;ENSP00000394794:S887L;ENSP00000407249:S887L;ENSP00000426626:S887L	ENSP00000349909:S855L	S	+	2	0	PTPN13	87890656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.024000	0.70857	2.797000	0.96272	0.650000	0.86243	TCG		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			13	406	0	0	0	0.457914	0	13	406				
FREM1	158326	broad.mit.edu	37	9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:14823308C>A	ENST00000380880.3	-	13	2970	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	FREM1_ENST00000422223.2_Missense_Mutation_p.M729I|FREM1_ENST00000380881.4_Missense_Mutation_p.M730I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	729					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453																																						ENST00000380881.4																			2	Substitution - Missense(2)	p.M729I(1)|p.M730I(1)	prostate(2)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2188-2190)atG>atT		FRAS1 related extracellular matrix 1							188.0	183.0	185.0					9																	14823308		1967	4158	6125	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823308C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2187G>T	9.37:g.14823308C>A	ENSP00000370262:p.Met729Ile					FREM1_ENST00000422223.2_Missense_Mutation_p.M729I|FREM1_ENST00000380880.3_Missense_Mutation_p.M729I	p.M730I			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3005	-			729					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2190G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439999	0.43326	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.16597	2.33;2.33;2.33	5.21	5.21	0.72293	.	0.287022	0.47852	D	0.000208	T	0.20455	0.0492	M	0.72118	2.19	0.41875	D	0.990292	B	0.31174	0.311	B	0.28784	0.094	T	0.03060	-1.1077	10	0.20519	T	0.43	-7.0089	14.6992	0.69145	0.0:0.8551:0.1449:0.0	.	729	Q5H8C1	FREM1_HUMAN	I	730;729;729	ENSP00000370263:M730I;ENSP00000412940:M729I;ENSP00000370262:M729I	ENSP00000370257:M732I	M	-	3	0	FREM1	14813308	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	5.656000	0.67988	2.591000	0.87537	0.462000	0.41574	ATG		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		74	350	1	0	8.41775e-28	0.870114	1e-27	74	350				
DNAH12	201625	broad.mit.edu	37	3	57488129	57488129	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:57488129C>T	ENST00000351747.2	-	10	1344	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	388	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V388V(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCCAGTGTAACACGTGTTCAG	0.388																																						ENST00000351747.2																			2	Substitution - coding silent(2)	p.V388V(2)	prostate(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1162-1164)gtG>gtA		dynein, axonemal, heavy chain 12							249.0	218.0	228.0					3																	57488129		2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57488129C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1164G>A	3.37:g.57488129C>T						DNAH12_ENST00000311202.6_Silent_p.V388V|DNAH12_ENST00000389536.4_Silent_p.V388V	p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			10	1344	-			388			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.1164G>A																																																																																					0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		48	224	0	0	0	0.864702	0	48	224				
DRC1	92749	broad.mit.edu	37	2	26671662	26671662	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:26671662T>C	ENST00000288710.2	+	11	1574	c.1500T>C	c.(1498-1500)tgT>tgC	p.C500C		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	500					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TGCTCCTGTGTGACGAGTCGG	0.602																																						ENST00000288710.2																			0											c.(1498-1500)tgT>tgC		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							77.0	92.0	87.0					2																	26671662		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26671662T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1500T>C	2.37:g.26671662T>C							p.C500C	NM_145038.2	NP_659475.2					11	1574	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1500T>C	CCDS1723.1																																																																																				0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		8	269	0	0	0	0.335167	0	8	269				
NPAS2	4862	broad.mit.edu	37	2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:101591316G>A	ENST00000335681.5	+	13	1477	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	398					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G398S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGACGTGGGTGCCTCGGG	0.532																																						ENST00000335681.5																			1	Substitution - Missense(1)	p.G398S(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1192-1194)Ggt>Agt		neuronal PAS domain protein 2							102.0	88.0	93.0					2																	101591316		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591316G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1192G>A	2.37:g.101591316G>A	ENSP00000338283:p.Gly398Ser					AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000446644.1_RNA	p.G398S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			13	1477	+			398					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1192G>A	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010767	0.19277	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05319	3.49;3.46	6.17	5.3	0.74995	.	0.256694	0.46758	N	0.000273	T	0.06508	0.0167	L	0.41079	1.255	0.18873	N	0.999981	B;B	0.25955	0.138;0.047	B;B	0.23852	0.049;0.015	T	0.31558	-0.9939	10	0.29301	T	0.29	.	10.745	0.46175	0.1437:0.0:0.8563:0.0	.	463;398	F5H027;Q99743	.;NPAS2_HUMAN	S	398;463	ENSP00000338283:G398S;ENSP00000438428:G463S	ENSP00000338283:G398S	G	+	1	0	NPAS2	100957748	0.881000	0.30235	0.014000	0.15608	0.073000	0.16967	2.092000	0.41700	1.631000	0.50456	0.655000	0.94253	GGT		0.532	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			18	82	0	0	0	0.539581	0	18	82				
GPR111	222611	broad.mit.edu	37	6	47650245	47650245	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:47650245G>A	ENST00000296862.1	+	6	1950	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	GPR111_ENST00000507065.1_Silent_p.K582K|GPR111_ENST00000398742.2_Silent_p.K582K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	650					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAATCAGCAAGAACATCGCCA	0.507																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1744-1746)aaG>aaA		G protein-coupled receptor 111							64.0	67.0	66.0					6																	47650245		2146	4279	6425	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47650245G>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1950G>A	6.37:g.47650245G>A						GPR111_ENST00000296862.1_Silent_p.K650K|GPR111_ENST00000507065.1_Silent_p.K582K	p.K582K			Q8IZF7	GP111_HUMAN			5	1795	+			650					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.1746G>A																																																																																					0.507	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		7	104	0	0	0	0.248553	0	7	104				
USP54	159195	broad.mit.edu	37	10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C	rs370633842		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:75258743T>C	ENST00000339859.4	-	23	4799	c.4699A>G	c.(4699-4701)Acc>Gcc	p.T1567A	RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|PPP3CB_ENST00000394822.2_5'Flank|PPP3CB_ENST00000342558.3_5'Flank|PPP3CB_ENST00000360663.5_5'Flank|USP54_ENST00000497106.1_5'UTR|PPP3CB_ENST00000394829.2_5'Flank|PPP3CB_ENST00000394828.2_5'Flank|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000422977.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1567					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTAGGTTAGTTGAGGA	0.532																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(4699-4701)Acc>Gcc		ubiquitin specific peptidase 54							250.0	221.0	231.0					10																	75258743		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75258743T>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4699A>G	10.37:g.75258743T>C	ENSP00000345216:p.Thr1567Ala					USP54_ENST00000394811.2_Missense_Mutation_p.T608A|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.T702A	p.T1567A			Q70EL1	UBP54_HUMAN			23	4799	-	Prostate(51;0.0112)		1567					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.4699A>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422609	0.43020	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25912	1.93;1.93;1.92;1.77;1.78	4.84	4.84	0.62591	.	.	.	.	.	T	0.24624	0.0597	L	0.44542	1.39	0.80722	D	1	B;B	0.28291	0.206;0.043	B;B	0.28305	0.088;0.016	T	0.04090	-1.0978	9	0.44086	T	0.13	-0.8867	14.5737	0.68229	0.0:0.0:0.0:1.0	.	702;1567	E7EW90;Q70EL1	.;UBP54_HUMAN	A	1567;1567;1417;608;702	ENSP00000345216:T1567A;ENSP00000386080:T1567A;ENSP00000408714:T1417A;ENSP00000378290:T608A;ENSP00000407368:T702A	ENSP00000345216:T1567A	T	-	1	0	USP54	74928749	0.999000	0.42202	0.995000	0.50966	0.904000	0.53231	5.268000	0.65536	2.029000	0.59856	0.443000	0.29094	ACC		0.532	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		7	419	0	0	0	0.278610	0	7	419				
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		10	329						10	329	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70687370	70687371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:70687370_70687371insG	ENST00000370950.3	+	2	133_134	c.51_52insG	c.(52-54)gggfs	p.G18fs	SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G18fs|RP4-677H15.4_ENST00000422107.1_RNA			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	18	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GCCCCAGCGGCGGGCCcggtgg	0.649																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(49-54)ggggccfs		serine/arginine-rich splicing factor 11			,	40,4006		6,28,1989					,	3.3	1.0			61	39,8013		6,27,3993	no	frameshift,frameshift	SRSF11	NM_004768.3,NM_001190987.1	,	12,55,5982	A1A1,A1R,RR		0.4844,0.9886,0.653	,	,		79,12019				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687370_70687371insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.54dupG	1.37:g.70687373_70687373dupG	ENSP00000359988:p.Gly18fs					SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.A18fs	p.A18fs			Q05519	SRS11_HUMAN			2	133_134	+			18			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.51_52insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		8	351						8	351	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113420507	113420507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:113420507delA	ENST00000272542.3	+	11	2484	c.1945delA	c.(1945-1947)aacfs	p.N649fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	649					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTCTTTCGTAACATTTTTAT	0.478																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1945-1947)acfs		solute carrier family 20 (phosphate transporter), member 1							191.0	174.0	180.0					2																	113420507		2203	4300	6503	SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113420507delA		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1945delA	2.37:g.113420507delA	ENSP00000272542:p.Asn649fs						p.N649fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			11	2484	+			649					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.1945delA	CCDS2099.1																																																																																				0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		37	238						37	238	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7621013	7621013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:7621013delT	ENST00000357716.4	+	8	2694	c.2420delT	c.(2419-2421)attfs	p.I807fs	GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000486284.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCATTCCAATTTTTTTTGGC	0.383																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2419-2421)atfs		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						40.0	38.0	38.0					3																	7621013		2203	4300	6503	SO:0001589	frameshift_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7621013delT	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2420delT	3.37:g.7621013delT	ENSP00000350348:p.Ile807fs					GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000357716.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs	p.I807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2694	+			807					Q8NFS2|Q8NFS3|Q8NFS4	Frame_Shift_Del	DEL	ENST00000357716.4	37	c.2420delT	CCDS43042.1																																																																																				0.383	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		11	61						11	61	---	---	---	---
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824710	+	lincRNA	DEL	T	T	-	rs57565986	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:106824710delT	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		tttttatatcttttttttttt	0.448													|||unknown(HR)	3314	0.661741	0.6672	0.6138	5008	,	,		17759	0.6111		0.67	False		,,,				2504	0.7321					ENST00000484698.1																			0																																																			0							g.chr3:106824710delT			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824710delT														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.448	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			2	4						2	4	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:26216797_26216799delCTT	ENST00000244601.3	-	1	73_75	c.73_75delAAG	c.(73-75)aagdel	p.K25del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTTGCCATCCTTCTTCTGCGCC	0.517																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(73-75)del		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216797_26216799delCTT	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.73_75delAAG	6.37:g.26216800_26216802delCTT	ENSP00000244601:p.Lys25del						p.K25del	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	73_75	-		all_hematologic(11;0.196)	25					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.73_75delAAG	CCDS4594.1																																																																																				0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		9	352						9	352	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	308						8	308	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	ATTTGGT	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:72936093_72936099delATTTGGT	ENST00000262209.4	-	26	3306_3312	c.3099_3105delACCAAAT	c.(3097-3105)ataccaaatfs	p.IPN1033fs	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1033					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTATCAGCATTTGGTATTTCTTGTC	0.266																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(3097-3105)atfs		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)																																			SO:0001589	frameshift_variant	8989					integral to plasma membrane		g.chr8:72936093_72936099delATTTGGT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3099_3105delACCAAAT	8.37:g.72936093_72936099delATTTGGT	ENSP00000262209:p.Ile1033fs					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.IPN1033fs	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		26	3306_3312	-			1033					A6NIN6	Frame_Shift_Del	DEL	ENST00000262209.4	37	c.3099_3105delACCAAAT	CCDS34908.1																																																																																				0.266	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		11	109						11	109	---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108348408	108348408	+	De_novo_Start_InFrame	DEL	T	T	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:108348408delT	ENST00000520734.1	-	0	230				ANGPT1_ENST00000520052.1_De_novo_Start_InFrame			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAGATTTCATTTGTCTGTTG	0.363																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43								angiopoietin 1							134.0	123.0	127.0					8																	108348408		2203	4300	6503			284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108348408delT	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812		8.37:g.108348408delT						ANGPT1_ENST00000520052.1_De_novo_Start_InFrame				Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		0	230	-	Breast(1;5.06e-08)							Q5HYA0	Translation_Start_Site	DEL	ENST00000520734.1	37																																																																																						0.363	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		9	115						9	115	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G	rs376179032		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19									immunoglobulin heavy variable 3-23																		ATCCCAGGGCTGGGCTCCTCTC	0.5																																						ENST00000390609.2																			0																																																			0							g.chr14:106725714_106725715insG	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725717_106725717dupG														0	18_19	-									RNA	INS	ENST00000390609.2	37																																																																																						0.500	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		9	142						9	142	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	9						5	9	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801306	7801307	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:7801306_7801307insT	ENST00000330494.7	+	12	2087_2088	c.1937_1938insT	c.(1936-1941)aattacfs	p.Y647fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.Y706fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	647	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAAAAGGGGAATTACCACTATC	0.45																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2113-2115)atafs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801306_7801307insT	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1939dupT	17.37:g.7801308_7801308dupT	ENSP00000332628:p.Tyr647fs					CHD3_ENST00000358181.4_Frame_Shift_Ins_p.I646fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.I646fs	p.I705fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			12	2115_2116	+		Prostate(122;0.202)	646					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.2114_2115insT	CCDS32554.1																																																																																				0.450	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		29	203						29	203	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR	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		5	8						5	8	---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57723318	57723326	+	In_Frame_Del	DEL	AAGCCTTAC	AAGCCTTAC	-	rs149508999|rs372708924		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:57723318_57723326delAAGCCTTAC	ENST00000263095.6	+	4	1267_1275	c.853_861delAAGCCTTAC	c.(853-861)aagccttacdel	p.KPY285del	ZNF264_ENST00000536056.1_In_Frame_Del_p.KPY285del	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGTGGAGAGAAGCCTTACAAGTGCAATG	0.507																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(853-861)del		zinc finger protein 264																																				SO:0001651	inframe_deletion	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723318_57723326delAAGCCTTAC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.853_861delAAGCCTTAC	19.37:g.57723318_57723326delAAGCCTTAC	ENSP00000263095:p.Lys285_Tyr287del					ZNF264_ENST00000536056.1_In_Frame_Del_p.KPY285del	p.KPY285del	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1267_1275	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	285					A8K8Y9|Q9P1V0	In_Frame_Del	DEL	ENST00000263095.6	37	c.853_861delAAGCCTTAC	CCDS33127.1																																																																																				0.507	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			14	144						14	144	---	---	---	---
