#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
PTCHD2	57540	broad.mit.edu	37	1	11596726	11596726	+	Missense_Mutation	SNP	G	G	T	rs533939192		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:11596726G>T	ENST00000294484.6	+	21	4300	c.4162G>T	c.(4162-4164)Gca>Tca	p.A1388S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1388S|PTCHD2_ENST00000304391.6_3'UTR	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1388					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCCCTGCCCGCAGGGGCCTC	0.662																																						uc001ash.3																			0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(4162-4164)GCA>TCA		patched domain containing 2							7.0	8.0	8.0					1																	11596726		1814	4054	5868	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596726G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.4162G>T	1.37:g.11596726G>T	ENSP00000294484:p.Ala1388Ser						p.A1388S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4300	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1388			Cytoplasmic (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.4162G>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.358376	0.00214	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.88354	-2.37;-2.37	4.87	-0.275	0.12906	.	0.631229	0.14444	N	0.319233	T	0.64394	0.2594	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57159	-0.7859	10	0.02654	T	1	-0.1897	4.3938	0.11353	0.5269:0.0:0.3298:0.1433	.	1388	Q9P2K9	PTHD2_HUMAN	S	1388	ENSP00000294484:A1388S;ENSP00000374226:A1388S	ENSP00000294484:A1388S	A	+	1	0	PTCHD2	11519313	0.137000	0.22531	0.035000	0.18076	0.019000	0.09904	1.675000	0.37555	-0.332000	0.08489	-0.367000	0.07326	GCA		0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
FCGR3A	2214	broad.mit.edu	37	1	161577088	161577088	+	Intron	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:161577088C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCATGACTTCGTCCTGGGGG	0.592																																						uc010pkp.1																			0					0						c.(1006-1008)TTC>TTT		RecName: Full=Putative heat shock 70 kDa protein 7; AltName: Full=Heat shock 70 kDa protein B;																																				SO:0001627	intron_variant	3311							g.chr1:161577088C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+23069G>A	1.37:g.161577088C>T							p.F336F	NR_024151						1	1240	+								A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37	c.1008C>T																																																																																					0.592	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	
RYR2	6262	broad.mit.edu	37	1	237948008	237948008	+	Silent	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:237948008C>G	ENST00000366574.2	+	90	13313	c.12996C>G	c.(12994-12996)gcC>gcG	p.A4332A	RYR2_ENST00000542537.1_Silent_p.A4316A|RYR2_ENST00000360064.6_Silent_p.A4338A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4332					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTAGCCAACATGCCAG	0.557																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12994-12996)GCC>GCG		cardiac muscle ryanodine receptor							73.0	71.0	72.0					1																	237948008		1941	4140	6081	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948008C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12996C>G	1.37:g.237948008C>G						RYR2_uc010pya.1_Silent_p.A747A	p.A4332A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13116	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4332					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12996C>G	CCDS55691.1																																																																																				0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
SMYD3	64754	broad.mit.edu	37	1	246027126	246027126	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:246027126T>G	ENST00000388985.4	-	9	875	c.876A>C	c.(874-876)aaA>aaC	p.K292N	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Missense_Mutation_p.K233N|SMYD3_ENST00000541742.1_Missense_Mutation_p.K233N			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	292					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GTTCTTCAATTTTTTTCAGGG	0.423																																						uc001ibl.2																			0					0						c.(874-876)AAA>AAC		SET and MYND domain containing 3							185.0	163.0	171.0					1																	246027126		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246027126T>G	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.876A>C	1.37:g.246027126T>G	ENSP00000373637:p.Lys292Asn					SMYD3_uc001ibk.2_Missense_Mutation_p.K233N|SMYD3_uc001ibi.2_Missense_Mutation_p.K103N|SMYD3_uc001ibj.2_Missense_Mutation_p.K103N	p.K292N	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	9	971	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	292					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.876A>C	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377677	0.24944	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	T;T;T;T	0.47177	1.85;1.85;1.86;0.85	5.66	0.617	0.17619	.	0.310802	0.33895	N	0.004451	T	0.28234	0.0697	N	0.24115	0.695	0.32649	N	0.519665	B;P	0.49447	0.01;0.924	B;B	0.43445	0.006;0.42	T	0.39396	-0.9616	10	0.19590	T	0.45	-40.8405	6.1908	0.20524	0.0:0.2632:0.1224:0.6144	.	292;103	Q9H7B4;B3KN46	SMYD3_HUMAN;.	N	233;233;122;292;103	ENSP00000444184:K233N;ENSP00000419184:K233N;ENSP00000373637:K292N;ENSP00000375712:K103N	ENSP00000373637:K292N	K	-	3	2	SMYD3	244093749	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	0.710000	0.25748	-0.134000	0.11516	-1.295000	0.01343	AAA		0.423	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
EGR2	1959	broad.mit.edu	37	10	64574066	64574066	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:64574066C>G	ENST00000242480.3	-	2	657	c.332G>C	c.(331-333)gGc>gCc	p.G111A	EGR2_ENST00000439032.1_Missense_Mutation_p.G111A|EGR2_ENST00000411732.1_Missense_Mutation_p.G61A|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	111					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATTGATTATGCCTTCTGGGTA	0.547																																						uc010qim.1																			0				ovary(2)	2						c.(331-333)GGC>GCC		early growth response 2 protein isoform a							168.0	149.0	155.0					10																	64574066		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64574066C>G	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.332G>C	10.37:g.64574066C>G	ENSP00000242480:p.Gly111Ala					EGR2_uc010qin.1_Missense_Mutation_p.G61A|EGR2_uc001jmi.2_Missense_Mutation_p.G111A|EGR2_uc010qio.1_Missense_Mutation_p.G124A|EGR2_uc009xph.2_Missense_Mutation_p.G111A	p.G111A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	486	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		111					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.332G>C	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803444	0.90623	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.24538	1.85;1.85;1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.67103	0.949;0.866	T	0.30909	-0.9962	10	0.33141	T	0.24	-24.1494	19.1024	0.93279	0.0:1.0:0.0:0.0	.	61;111	P11161-2;P11161	.;EGR2_HUMAN	A	111;111;61;124	ENSP00000242480:G111A;ENSP00000402040:G111A;ENSP00000387634:G61A	ENSP00000242480:G111A	G	-	2	0	EGR2	64244072	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	2.187000	0.42602	2.592000	0.87571	0.563000	0.77884	GGC		0.547	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
ATE1	11101	broad.mit.edu	37	10	123683779	123683779	+	Splice_Site	DEL	A	A	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:123683779delA	ENST00000224652.6	-	2	256		c.e2+1		ATE1_ENST00000543447.1_Splice_Site|ATE1_ENST00000369043.3_Splice_Site|ATE1_ENST00000535655.1_Splice_Site|ATE1_ENST00000540606.1_Splice_Site|ATE1_ENST00000369040.3_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAAGCTTTACCTTCGCCAT	0.413																																						uc001lfp.2																			0					0						c.e2+1		arginyltransferase 1 isoform 2							183.0	164.0	170.0					10																	123683779		2203	4300	6503	SO:0001630	splice_region_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123683779delA	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.170+1T>-	10.37:g.123683779delA						ATE1_uc001lfq.2_Splice_Site_p.R57_splice|ATE1_uc010qtr.1_Splice_Site|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Splice_Site_p.R50_splice|ATE1_uc001lfr.2_Splice_Site|ATE1_uc009xzu.2_Intron	p.R57_splice	NM_007041	NP_008972	O95260	ATE1_HUMAN			2	252	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)						O95261|Q5SQQ3|Q8WW04	Splice_Site	DEL	ENST00000224652.6	37	c.170_splice	CCDS31300.1																																																																																				0.413	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Intron
ART1	417	broad.mit.edu	37	11	3681476	3681476	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:3681476A>T	ENST00000250693.1	+	3	828	c.727A>T	c.(727-729)Atc>Ttc	p.I243F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	243					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGAGGTGCTGATCCCCCCCTT	0.607																																						uc001lye.1																			0					0						c.(727-729)ATC>TTC		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						50.0	51.0	51.0					11																	3681476		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681476A>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.727A>T	11.37:g.3681476A>T	ENSP00000250693:p.Ile243Phe					ART1_uc009yeb.1_Missense_Mutation_p.I243F	p.I243F	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	828	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	243					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.727A>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977173	0.74360	.	.	ENSG00000129744	ENST00000250693	T	0.21031	2.03	5.21	5.21	0.72293	.	0.046800	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81112	2.525	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.50065	-0.8871	9	.	.	.	.	13.0201	0.58781	1.0:0.0:0.0:0.0	.	243	P52961	NAR1_HUMAN	F	243	ENSP00000250693:I243F	.	I	+	1	0	ART1	3638052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.920000	0.63390	1.964000	0.57103	0.460000	0.39030	ATC		0.607	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314	
KIF18A	81930	broad.mit.edu	37	11	28058009	28058009	+	Silent	SNP	C	C	T	rs575102434		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:28058009C>T	ENST00000263181.6	-	14	2441	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	717					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTACTGTAGACGGATTTTGAA	0.363																																						uc001msc.2																			0				ovary(2)	2						c.(2149-2151)CCG>CCA		kinesin family member 18A							121.0	122.0	122.0					11																	28058009		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058009C>T	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2151G>A	11.37:g.28058009C>T							p.P717P	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			14	2333	-			717					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2151G>A	CCDS7867.1																																																																																				0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
AHNAK	79026	broad.mit.edu	37	11	62298733	62298733	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:62298733G>A	ENST00000378024.4	-	5	3430	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1052					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTCGGGCCTTTCAACT	0.443																																						uc001ntl.2																			0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3154-3156)GGC>GGT		AHNAK nucleoprotein isoform 1							92.0	91.0	91.0					11																	62298733		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62298733G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3156C>T	11.37:g.62298733G>A						AHNAK_uc001ntk.1_Intron	p.G1052G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3456	-		Melanoma(852;0.155)	1052					A1A586	Silent	SNP	ENST00000378024.4	37	c.3156C>T	CCDS31584.1																																																																																				0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
DNAJC4	3338	broad.mit.edu	37	11	63997583	63997583	+	5'Flank	SNP	A	A	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:63997583A>C	ENST00000321685.3	+	0	0				DNAJC4_ENST00000355040.4_5'Flank|DNAJC4_ENST00000321460.5_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						AAAAAAAAAAACCCGCCCAGC	0.532																																						uc001nyr.1																			0											c.(745-747)GTT>GGT		Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																																				SO:0001631	upstream_gene_variant	0							g.chr11:63997583A>C	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997583A>C	Exception_encountered					DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	p.V249G							1	1178	-								O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.746T>G	CCDS41666.1																																																																																				0.532	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1		
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	rs564572858		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22065	0.0		0.0	False		,,,				2504	0.001					uc001pzk.1																			1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(811-813)GTC>ATC		olfactory receptor, family 4, subfamily D,							161.0	131.0	141.0					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	811	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271			Helical; Name=7; (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
KCNC2	3747	broad.mit.edu	37	12	75601564	75601564	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr12:75601564G>A	ENST00000549446.1	-	2	880	c.200C>T	c.(199-201)gCg>gTg	p.A67V	KCNC2_ENST00000550433.1_Missense_Mutation_p.A67V|KCNC2_ENST00000298972.1_Missense_Mutation_p.A67V|KCNC2_ENST00000548513.1_Missense_Mutation_p.A67V|KCNC2_ENST00000350228.2_Missense_Mutation_p.A67V|KCNC2_ENST00000540018.1_Missense_Mutation_p.A67V|KCNC2_ENST00000341669.3_Missense_Mutation_p.A67V|KCNC2_ENST00000393288.2_Missense_Mutation_p.A67V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	67	Gly/Pro-rich (insert).				action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	cagcgggggcgctctcggcgg	0.771																																						uc001sxg.1																			0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(199-201)GCG>GTG		Shaw-related voltage-gated potassium channel							5.0	6.0	5.0					12																	75601564		1808	3492	5300	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601564G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.200C>T	12.37:g.75601564G>A	ENSP00000449253:p.Ala67Val					KCNC2_uc009zry.2_Missense_Mutation_p.A67V|KCNC2_uc001sxe.2_Missense_Mutation_p.A67V|KCNC2_uc001sxf.2_Missense_Mutation_p.A67V|KCNC2_uc010stw.1_Missense_Mutation_p.A67V	p.A67V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	744	-			67			Gly/Pro-rich (insert).|Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.200C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	g	7.973	0.749452	0.15778	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97598	-4.45;-4.42;-4.42;-4.45;-4.42;-4.45;-4.42;-4.45	3.33	2.42	0.29668	BTB/POZ-like (1);BTB/POZ fold (1);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.413716	0.17823	N	0.160804	D	0.90597	0.7052	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.23650	0.073;0.073;0.089;0.073;0.073	B;B;B;B;B	0.15870	0.006;0.014;0.013;0.014;0.014	D	0.84144	0.0419	10	0.49607	T	0.09	.	10.0392	0.42146	0.0:0.2064:0.7936:0.0	.	67;67;67;67;67	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	V	67	ENSP00000448301:A67V;ENSP00000449941:A67V;ENSP00000449253:A67V;ENSP00000340121:A67V;ENSP00000298972:A67V;ENSP00000319877:A67V;ENSP00000438423:A67V;ENSP00000376966:A67V	ENSP00000298972:A67V	A	-	2	0	KCNC2	73887831	0.988000	0.35896	0.007000	0.13788	0.170000	0.22686	0.000000	0.12993	0.715000	0.32103	0.558000	0.71614	GCG		0.771	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
MYCBP2	23077	broad.mit.edu	37	13	77835447	77835447	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr13:77835447A>G	ENST00000544440.2	-	12	1614	c.1597T>C	c.(1597-1599)Tgg>Cgg	p.W533R	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.W533R|MYCBP2_ENST00000407578.2_Missense_Mutation_p.W571R					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTCAACCCATTTTCCTGCT	0.378																																						uc001vkf.2																			0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(1597-1599)TGG>CGG		MYC binding protein 2							141.0	129.0	133.0					13																	77835447		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835447A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1597T>C	13.37:g.77835447A>G	ENSP00000444596:p.Trp533Arg					MYCBP2_uc010aev.2_5'UTR	p.W533R	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	13	1688	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	533						Missense_Mutation	SNP	ENST00000544440.2	37	c.1597T>C		.	.	.	.	.	.	.	.	.	.	A	17.40	3.380934	0.61845	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.80214	-1.35;-1.35;-1.35	5.62	5.62	0.85841	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	L	0.48642	1.525	0.80722	D	1	P	0.41041	0.736	B	0.41988	0.372	T	0.81493	-0.0908	10	0.87932	D	0	.	15.8183	0.78621	1.0:0.0:0.0:0.0	.	533	O75592	MYCB2_HUMAN	R	533;571;533	ENSP00000349892:W533R;ENSP00000384288:W571R;ENSP00000444596:W533R	ENSP00000349892:W533R	W	-	1	0	MYCBP2	76733448	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.210000	0.95106	2.143000	0.66587	0.477000	0.44152	TGG		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
AKAP6	9472	broad.mit.edu	37	14	33290671	33290671	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:33290671G>C	ENST00000280979.4	+	13	3822	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1218					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGATGCCCTGGAATGGGATGA	0.393																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(3652-3654)GAA>CAA		A-kinase anchor protein 6							108.0	101.0	103.0					14																	33290671		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290671G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3652G>C	14.37:g.33290671G>C	ENSP00000280979:p.Glu1218Gln						p.E1218Q	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	3822	+	Breast(36;0.0388)|Prostate(35;0.15)		1218					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3652G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171509	0.57584	.	.	ENSG00000151320	ENST00000280979	T	0.12255	2.7	5.79	5.79	0.91817	.	0.051755	0.85682	D	0.000000	T	0.40791	0.1131	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.09907	-1.0653	10	0.72032	D	0.01	-16.6721	20.0313	0.97540	0.0:0.0:1.0:0.0	.	1218	Q13023	AKAP6_HUMAN	Q	1218	ENSP00000280979:E1218Q	ENSP00000280979:E1218Q	E	+	1	0	AKAP6	32360422	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	9.211000	0.95120	2.746000	0.94184	0.655000	0.94253	GAA		0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
SMEK1	55671	broad.mit.edu	37	14	91937214	91937214	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:91937214G>C	ENST00000554943.1	-	10	1742	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	SMEK1_ENST00000555462.1_Missense_Mutation_p.L304V|SMEK1_ENST00000337238.4_Missense_Mutation_p.L530V|SMEK1_ENST00000554684.1_Missense_Mutation_p.L530V|SMEK1_ENST00000428424.2_Missense_Mutation_p.L304V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	543					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGGCCATAAGAACTAGCACT	0.353																																						uc001xzn.2																			0					0						c.(1627-1629)CTT>GTT		SMEK homolog 1, suppressor of mek1							123.0	124.0	124.0					14																	91937214		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937214G>C	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1627C>G	14.37:g.91937214G>C	ENSP00000450883:p.Leu543Val					SMEK1_uc001xzm.2_Missense_Mutation_p.L530V|SMEK1_uc001xzo.2_Missense_Mutation_p.L530V|SMEK1_uc010atz.2_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_RNA	p.L543V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	10	2449	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	543					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1627C>G		.	.	.	.	.	.	.	.	.	.	G	26.4	4.733636	0.89482	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.47869	1.62;1.62;0.83;1.62;0.83;1.62	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	M	0.90198	3.095	0.80722	D	1	D;P;D	0.59357	0.974;0.942;0.985	D;P;D	0.67725	0.953;0.685;0.918	T	0.78130	-0.2324	10	0.49607	T	0.09	-12.0194	19.618	0.95643	0.0:0.0:1.0:0.0	.	304;543;530	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	V	530;530;304;543;304;530	ENSP00000450864:L530V;ENSP00000337125:L530V;ENSP00000392704:L304V;ENSP00000450883:L543V;ENSP00000450891:L304V;ENSP00000452596:L530V	ENSP00000337125:L530V	L	-	1	0	SMEK1	91006967	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	8.025000	0.88777	2.635000	0.89317	0.650000	0.86243	CTT		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560	
TRPM1	4308	broad.mit.edu	37	15	31294188	31294188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:31294188G>T	ENST00000256552.6	-	28	4862	c.4715C>A	c.(4714-4716)tCa>tAa	p.S1572*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.S1550*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.S1589*|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAAACTTTTTGACCTGAGAGA	0.428																																						uc001zfm.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(4648-4650)TCA>TAA		transient receptor potential cation channel,							192.0	175.0	180.0					15																	31294188		1878	4109	5987	SO:0001587	stop_gained	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294188G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4715C>A	15.37:g.31294188G>T	ENSP00000256552:p.Ser1572*					TRPM1_uc010azy.2_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.2_RNA	p.S1550*	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4777	-		all_lung(180;1.92e-11)	1550			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000256552.6	37	c.4649C>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	47	13.467419	0.99744	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-14.3742	18.4041	0.90528	0.0:0.0:1.0:0.0	.	.	.	.	X	1550;1589;1572;1550	.	ENSP00000256552:S1572X	S	-	2	0	TRPM1	29081480	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.506000	0.81665	2.400000	0.81607	0.563000	0.77884	TCA		0.428	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
SPTBN5	51332	broad.mit.edu	37	15	42178160	42178160	+	Missense_Mutation	SNP	G	G	C	rs192428364	byFrequency	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:42178160G>C	ENST00000320955.6	-	7	1520	c.1293C>G	c.(1291-1293)ttC>ttG	p.F431L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	431					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGTGCTGGAAGCGCCGGG	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		15618	0.003		0.0	False		,,,				2504	0.0					uc001zos.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1186-1188)TTC>TTG		spectrin, beta, non-erythrocytic 5							9.0	12.0	11.0					15																	42178160		1860	4065	5925	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178160G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1293C>G	15.37:g.42178160G>C	ENSP00000317790:p.Phe431Leu						p.F396L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1521	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	431			Spectrin 2.			Missense_Mutation	SNP	ENST00000320955.6	37	c.1188C>G		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.92	2.382284	0.42207	.	.	ENSG00000137877	ENST00000320955	T	0.62364	0.03	4.65	-0.765	0.11023	.	0.168207	0.39341	N	0.001383	T	0.74535	0.3729	M	0.89214	3.015	0.19300	N	0.999977	D	0.58970	0.984	P	0.58520	0.84	T	0.68051	-0.5511	10	0.54805	T	0.06	.	10.1517	0.42799	0.5656:0.0:0.4344:0.0	.	431	Q9NRC6	SPTN5_HUMAN	L	431	ENSP00000317790:F431L	ENSP00000317790:F431L	F	-	3	2	SPTBN5	39965452	0.860000	0.29831	0.528000	0.27938	0.359000	0.29487	0.486000	0.22340	-0.157000	0.11059	-0.145000	0.13849	TTC		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
OR1F1	4992	broad.mit.edu	37	16	3254556	3254556	+	Missense_Mutation	SNP	G	G	A	rs141236935		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:3254556G>A	ENST00000304646.2	+	1	310	c.310G>A	c.(310-312)Gtt>Att	p.V104I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	104					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTATTTCGTTTTCATGTT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		24719	0.0		0.001	False		,,,				2504	0.0					uc010uwu.1																			0					0						c.(310-312)GTT>ATT		olfactory receptor, family 1, subfamily F,		G	ILE/VAL	0,4394		0,0,2197	241.0	204.0	217.0		310	-10.5	0.0	16	dbSNP_134	217	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR1F1	NM_012360.1	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	104/313	3254556	2,12992	2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254556G>A	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.310G>A	16.37:g.3254556G>A	ENSP00000305424:p.Val104Ile						p.V104I	NM_012360	NP_036492	O43749	OR1F1_HUMAN			1	310	+			104			Helical; Name=3; (Potential).		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.310G>A	CCDS10496.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.735	0.320031	0.10845	0.0	2.33E-4	ENSG00000168124	ENST00000304646	T	0.00321	8.11	5.27	-10.5	0.00291	GPCR, rhodopsin-like superfamily (1);	1.684360	0.03335	N	0.193960	T	0.00144	0.0004	N	0.13198	0.31	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.42949	-0.9421	10	0.72032	D	0.01	.	13.3527	0.60611	0.0:0.4636:0.1181:0.4183	.	104	O43749	OR1F1_HUMAN	I	104	ENSP00000305424:V104I	ENSP00000305424:V104I	V	+	1	0	OR1F1	3194557	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.746000	0.04829	-2.523000	0.00496	-0.749000	0.03505	GTT		0.498	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1		
ZNF500	26048	broad.mit.edu	37	16	4810588	4810588	+	Splice_Site	SNP	A	A	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:4810588A>C	ENST00000219478.6	-	5	964	c.665T>G	c.(664-666)gTg>gGg	p.V222G	ZNF500_ENST00000545009.1_Splice_Site_p.V222G			O60304	ZN500_HUMAN	zinc finger protein 500	222					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V222G(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCACGGGCACCTGCCAGAA	0.637																																						uc002cxp.1																			1	Substitution - Missense(1)		prostate(1)	ovary(2)|skin(1)	3						c.(664-666)GTG>GGG		zinc finger protein 500							94.0	76.0	82.0					16																	4810588		2197	4300	6497	SO:0001630	splice_region_variant	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4810588A>C	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.664-1T>G	16.37:g.4810588A>C						ZNF500_uc002cxo.1_Missense_Mutation_p.V14G|ZNF500_uc010uxt.1_Missense_Mutation_p.V222G	p.V222G	NM_021646	NP_067678	O60304	ZN500_HUMAN			5	912	-			222					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.665T>G	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	A	1.346	-0.592845	0.03771	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.00705	5.81;5.81	3.16	-2.99	0.05497	Krueppel-associated box (1);	.	.	.	.	T	0.00440	0.0014	N	0.08118	0	0.09310	N	0.999999	B;B	0.15141	0.012;0.012	B;B	0.12156	0.007;0.003	T	0.41980	-0.9478	9	0.13853	T	0.58	.	4.5762	0.12234	0.5943:0.0:0.2596:0.1461	.	222;222	B4DNN9;O60304	.;ZN500_HUMAN	G	222	ENSP00000445714:V222G;ENSP00000219478:V222G	ENSP00000219478:V222G	V	-	2	0	ZNF500	4750589	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	-0.124000	0.10595	-0.719000	0.04942	-0.763000	0.03452	GTG		0.637	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507	Missense_Mutation
CIITA	4261	broad.mit.edu	37	16	10992859	10992859	+	Splice_Site	SNP	C	C	T	rs376464815		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:10992859C>T	ENST00000324288.8	+	5	569	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	CIITA_ENST00000381835.5_Splice_Site_p.P146S|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	146					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGAAAAGACGTGAGTGAGC	0.512			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(436-438)CCC>TCC		class II transactivator		C	SER/PRO	0,4394		0,0,2197	146.0	139.0	141.0		436	-0.4	1.0	16		141	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CIITA	NM_000246.3	74	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	146/1131	10992859	1,12993	2197	4300	6497	SO:0001630	splice_region_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10992859C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.436+1C>T	16.37:g.10992859C>T						CIITA_uc002daj.3_Missense_Mutation_p.P147S|CIITA_uc002dak.3_Missense_Mutation_p.P146S|CIITA_uc002dag.2_Missense_Mutation_p.P146S|CIITA_uc002dah.2_Missense_Mutation_p.P147S|CIITA_uc010bup.1_Missense_Mutation_p.P146S	p.P146S	NM_000246	NP_000237	P33076	C2TA_HUMAN			5	569	+			146					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.436C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502880	0.26949	0.0	1.16E-4	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.71222	-0.55;1.8	3.81	-0.389	0.12455	.	0.778293	0.10886	N	0.623207	T	0.51278	0.1665	L	0.29908	0.895	0.25755	N	0.985018	B;B;B;B;B;B	0.24823	0.112;0.038;0.106;0.04;0.066;0.068	B;B;B;B;B;B	0.19148	0.024;0.008;0.007;0.011;0.024;0.011	T	0.30327	-0.9982	10	0.22706	T	0.39	.	5.9989	0.19509	0.0:0.5069:0.0:0.4931	.	146;146;146;146;147;146	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	S	146;146;147;146	ENSP00000316328:P146S;ENSP00000371257:P146S	ENSP00000316328:P146S	P	+	1	0	CIITA	10900360	0.928000	0.31464	0.999000	0.59377	0.981000	0.71138	-0.549000	0.06041	0.076000	0.16826	0.557000	0.71058	CCC		0.512	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	Missense_Mutation
GTF3C1	2975	broad.mit.edu	37	16	27483187	27483187	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:27483187C>G	ENST00000356183.4	-	30	4423	c.4408G>C	c.(4408-4410)Gag>Cag	p.E1470Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1470Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1470					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTGGCACTCCATGAAGGCC	0.617																																						uc002dov.1																			0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4408-4410)GAG>CAG		general transcription factor IIIC, polypeptide							77.0	68.0	71.0					16																	27483187		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27483187C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4408G>C	16.37:g.27483187C>G	ENSP00000348510:p.Glu1470Gln					GTF3C1_uc002dou.2_Missense_Mutation_p.E1470Q	p.E1470Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			30	4448	-			1470					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4408G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154236	0.57259	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24151	1.87	5.19	5.19	0.71726	.	0.282701	0.34628	N	0.003817	T	0.43188	0.1236	L	0.57536	1.79	0.36067	D	0.841869	B;D	0.67145	0.314;0.996	B;P	0.58873	0.074;0.847	T	0.43540	-0.9385	10	0.25106	T	0.35	-20.0643	18.3272	0.90258	0.0:1.0:0.0:0.0	.	1470;1470	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	1470;1466	ENSP00000348510:E1470Q	ENSP00000348510:E1470Q	E	-	1	0	GTF3C1	27390688	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.421000	0.52742	2.419000	0.82065	0.655000	0.94253	GAG		0.617	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
CHD9	80205	broad.mit.edu	37	16	53190481	53190481	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:53190481T>A	ENST00000398510.3	+	1	567	c.480T>A	c.(478-480)caT>caA	p.H160Q	CHD9_ENST00000564845.1_Missense_Mutation_p.H160Q|CHD9_ENST00000447540.1_Missense_Mutation_p.H160Q|CHD9_ENST00000566029.1_Missense_Mutation_p.H160Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	160					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCACACCATGACTTTGCCT	0.388																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(478-480)CAT>CAA		chromodomain helicase DNA binding protein 9							89.0	86.0	87.0					16																	53190481		1931	4142	6073	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190481T>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.480T>A	16.37:g.53190481T>A	ENSP00000381522:p.His160Gln					CHD9_uc002egy.2_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002eha.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.2_Missense_Mutation_p.H160Q	p.H160Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			1	644	+		all_cancers(37;0.0212)	160					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.480T>A		.	.	.	.	.	.	.	.	.	.	T	10.77	1.444535	0.25987	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.85773	-1.95;-2.03	5.86	3.64	0.41730	.	0.094859	0.45867	D	0.000335	T	0.77731	0.4174	L	0.34521	1.04	0.24306	N	0.995101	B;B;P;B	0.39216	0.001;0.001;0.664;0.001	B;B;B;B	0.41036	0.002;0.001;0.346;0.002	T	0.67692	-0.5605	10	0.38643	T	0.18	-6.3071	8.728	0.34480	0.0:0.2083:0.0:0.7917	.	160;160;160;160	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	Q	160	ENSP00000396345:H160Q;ENSP00000381522:H160Q	ENSP00000381522:H160Q	H	+	3	2	CHD9	51747982	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.480000	0.22244	1.053000	0.40415	0.528000	0.53228	CAT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
PIEZO1	9780	broad.mit.edu	37	16	88779258	88779258	+	IGR	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:88779258C>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.L228M|CTU2_ENST00000312060.5_Missense_Mutation_p.L228M|CTU2_ENST00000567949.1_Missense_Mutation_p.L299M|CTU2_ENST00000378384.3_Missense_Mutation_p.L141M	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TCTTTCCCAACTGTTCTGCTC	0.677																																						uc002flm.2																			0				skin(1)	1						c.(682-684)CTG>ATG		cytoplasmic tRNA 2-thiolation protein 2 isoform							23.0	24.0	24.0					16																	88779258		2194	4290	6484	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88779258C>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779258C>A						CTU2_uc002fln.2_Missense_Mutation_p.L228M|CTU2_uc010chz.2_Missense_Mutation_p.L299M|CTU2_uc010cia.2_Missense_Mutation_p.L141M	p.L228M	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN			7	730	+			228					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.682C>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096805	0.36952	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.25085	1.82;2.06;2.08	4.6	2.61	0.31194	.	0.000000	0.64402	D	0.000002	T	0.43322	0.1242	M	0.72118	2.19	0.53688	D	0.999976	P;D;D	0.71674	0.918;0.998;0.992	P;P;D	0.64595	0.758;0.898;0.927	T	0.21895	-1.0232	10	0.49607	T	0.09	.	9.2846	0.37749	0.0:0.8152:0.0:0.1848	.	141;228;228	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	M	141;228;228	ENSP00000367635:L141M;ENSP00000308617:L228M;ENSP00000388320:L228M	ENSP00000308617:L228M	L	+	1	2	CTU2	87306759	0.921000	0.31238	0.048000	0.18961	0.012000	0.07955	3.120000	0.50430	0.471000	0.27319	0.650000	0.86243	CTG		0.677	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
ITGB4	3691	broad.mit.edu	37	17	73733432	73733432	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr17:73733432C>T	ENST00000200181.3	+	17	2207	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	ITGB4_ENST00000579662.1_Missense_Mutation_p.R674W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R674W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R674W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R674W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	674				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). {ECO:0000305}.	amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTCCTTCCGGGACGAGGA	0.652																																						uc002jpg.2																			0				lung(4)	4						c.(2020-2022)CGG>TGG		integrin beta 4 isoform 1 precursor							55.0	56.0	56.0					17																	73733432		2201	4297	6498	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73733432C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2020C>T	17.37:g.73733432C>T	ENSP00000200181:p.Arg674Trp					ITGB4_uc002jph.2_Missense_Mutation_p.R674W|ITGB4_uc010dgo.2_Missense_Mutation_p.R674W|ITGB4_uc002jpi.3_Missense_Mutation_p.R674W|ITGB4_uc010dgp.1_Missense_Mutation_p.R674W|ITGB4_uc002jpj.2_Missense_Mutation_p.R674W	p.R674W	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2207	+	all_cancers(13;1.5e-07)		674	IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).		Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2020C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238513	0.39598	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.91068	-2.78;-2.78;-2.78	4.45	4.45	0.53987	Integrin beta subunit, tail (2);	0.073550	0.52532	D	0.000064	D	0.95510	0.8541	M	0.83483	2.645	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.933;0.989;0.992;0.996	D	0.96391	0.9289	10	0.87932	D	0	.	17.0865	0.86612	0.0:1.0:0.0:0.0	.	674;674;674;674	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	W	590;674;674;674	ENSP00000200181:R674W;ENSP00000344079:R674W;ENSP00000400217:R674W	ENSP00000200181:R674W	R	+	1	2	ITGB4	71245027	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.739000	0.47409	2.015000	0.59207	0.467000	0.42956	CGG		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
BCL2	596	broad.mit.edu	37	18	60985794	60985796	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr18:60985794_60985796delCCA	ENST00000398117.1	-	1	1565_1567	c.104_106delTGG	c.(103-108)gtgggc>ggc	p.V35del	BCL2_ENST00000589955.1_In_Frame_Del_p.V35del|BCL2_ENST00000333681.4_In_Frame_Del_p.V35del|BCL2_ENST00000444484.1_In_Frame_Del_p.V35del	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	35		Cleavage; by caspase-3.			actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ggcgcggcgcccACATCTCCCGC	0.68			T	IGH@	"""NHL, CLL"""																																	uc002lit.1				Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		0				central_nervous_system(1)	1						c.(103-108)GTGGGC>GGC		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)																																			SO:0001651	inframe_deletion	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985794_60985796delCCA	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.104_106delTGG	18.37:g.60985794_60985796delCCA	ENSP00000381185:p.Val35del					BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del	p.V35del	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	597_599	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	35				Cleavage; by caspase-3.	C9JHD5|P10416|Q13842|Q16197	In_Frame_Del	DEL	ENST00000398117.1	37	c.104_106delTGG	CCDS11981.1																																																																																				0.680	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657	
C3	718	broad.mit.edu	37	19	6714208	6714208	+	Silent	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:6714208G>C	ENST00000245907.6	-	6	743	c.651C>G	c.(649-651)gtC>gtG	p.V217V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	217					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CAGTGGAGAAGACCTGCTGTG	0.632																																						uc002mfm.2																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(649-651)GTC>GTG		complement component 3 precursor							97.0	97.0	97.0					19																	6714208		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6714208G>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.651C>G	19.37:g.6714208G>C							p.V217V	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	6	713	-			217					A7E236	Silent	SNP	ENST00000245907.6	37	c.651C>G	CCDS32883.1																																																																																				0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
MUC16	94025	broad.mit.edu	37	19	9072189	9072189	+	Missense_Mutation	SNP	C	C	T	rs533387298		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:9072189C>T	ENST00000397910.4	-	3	15460	c.15257G>A	c.(15256-15258)cGc>cAc	p.R5086H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5088	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R5086L(2)|p.R719L(1)		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						AGGTTCCAAGCGTGTACGTAA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21419	0.0		0.001	False		,,,				2504	0.0					uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15256-15258)CGC>CAC		mucin 16							182.0	163.0	169.0					19																	9072189		1914	4129	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072189C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15257G>A	19.37:g.9072189C>T	ENSP00000381008:p.Arg5086His						p.R5086H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15461	-			5088			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15257G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.995	0.553639	0.13374	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	1.78	0.68	0.17980	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	.	.	.	D	0.60160	0.987	B	0.34991	0.193	T	0.22208	-1.0223	8	0.87932	D	0	.	4.6296	0.12495	0.0:0.7992:0.0:0.2008	.	5086	B5ME49	.	H	5086	ENSP00000381008:R5086H	ENSP00000381008:R5086H	R	-	2	0	MUC16	8933189	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-0.901000	0.04093	0.324000	0.23333	0.282000	0.19409	CGC		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	A	G	rs6511764	byFrequency	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:12187210A>G	ENST00000439326.3	+	4	1450	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428													.|||	1455	0.290535	0.73	0.1455	5008	,	,		23733	0.0853		0.161	False		,,,				2504	0.1442					uc002mtb.2																			0					0						c.(1273-1275)GTA>GTG		zinc finger protein 844		G		883,501		287,309,96	54.0	57.0	56.0		1275	0.5	0.0	19	dbSNP_116	56	413,2769		25,363,1203	no	coding-synonymous	ZNF844	NM_001136501.1		312,672,1299	GG,GA,AA		12.9793,36.1994,28.3837		425/667	12187210	1296,3270	692	1591	2283	SO:0001819	synonymous_variant	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187210A>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1275A>G	19.37:g.12187210A>G						ZNF844_uc010dym.1_Silent_p.V268V	p.V425V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1418	+			425					Q5JPI8	Silent	SNP	ENST00000439326.3	37	c.1275A>G	CCDS45985.1																																																																																				0.428	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
ZNF813	126017	broad.mit.edu	37	19	53995161	53995161	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:53995161G>A	ENST00000396403.4	+	4	1803	c.1675G>A	c.(1675-1677)Gtt>Att	p.V559I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGGCAAGGTTTTTAATCA	0.363																																						uc002qbu.2																			0				large_intestine(1)	1						c.(1675-1677)GTT>ATT		zinc finger protein 813							47.0	49.0	49.0					19																	53995161		2196	4296	6492	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995161G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1675G>A	19.37:g.53995161G>A	ENSP00000379684:p.Val559Ile					ZNF813_uc010eqq.1_Intron	p.V559I	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1803	+			559			C2H2-type 13.			Missense_Mutation	SNP	ENST00000396403.4	37	c.1675G>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	8.376	0.836484	0.16891	.	.	ENSG00000198346	ENST00000396403	T	0.01005	5.45	1.28	-0.201	0.13212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00906	0.0030	N	0.21373	0.66	0.09310	N	1	B	0.32862	0.387	B	0.39771	0.309	T	0.49504	-0.8933	9	0.87932	D	0	.	1.5245	0.02523	0.4183:0.0:0.2758:0.306	.	559	Q6ZN06	ZN813_HUMAN	I	559	ENSP00000379684:V559I	ENSP00000379684:V559I	V	+	1	0	ZNF813	58686973	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.956000	0.03865	0.455000	0.26910	0.187000	0.17357	GTT		0.363	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
MYT1L	23040	broad.mit.edu	37	2	1812887	1812887	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:1812887C>T	ENST00000399161.2	-	22	3880	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G1043R|MYT1L_ENST00000407844.1_Missense_Mutation_p.G41R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1045					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCTGCTCTCCAGAAAGCTTT	0.592																																						uc002qxe.2																			0				ovary(5)|central_nervous_system(1)	6						c.(3133-3135)GGA>AGA		myelin transcription factor 1-like							116.0	123.0	121.0					2																	1812887		2147	4245	6392	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1812887C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3133G>A	2.37:g.1812887C>T	ENSP00000382114:p.Gly1045Arg					MYT1L_uc002qxd.2_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.2_Missense_Mutation_p.G41R	p.G1045R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	22	3960	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1045					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3133G>A		.	.	.	.	.	.	.	.	.	.	C	29.7	5.029396	0.93518	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.48201	0.82;1.62;0.82	5.24	5.24	0.73138	.	0.108901	0.64402	D	0.000007	T	0.63189	0.2490	M	0.62723	1.935	0.80722	D	1	P;D;D	0.63880	0.587;0.988;0.993	B;P;P	0.57776	0.221;0.676;0.827	T	0.64202	-0.6463	10	0.49607	T	0.09	-16.9142	18.8228	0.92105	0.0:1.0:0.0:0.0	.	41;1045;1043	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	R	1045;991;41;99;1043	ENSP00000382114:G1045R;ENSP00000382111:G99R;ENSP00000396103:G1043R	ENSP00000295067:G991R	G	-	1	0	MYT1L	1791894	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	4.754000	0.62191	2.439000	0.82584	0.655000	0.94253	GGA		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
LCT	3938	broad.mit.edu	37	2	136570155	136570155	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:136570155G>A	ENST00000264162.2	-	7	2089	c.2079C>T	c.(2077-2079)aaC>aaT	p.N693N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	693	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTTGTGGGGCGTTGCTGATGA	0.547																																						uc002tuu.1																			0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2077-2079)AAC>AAT		lactase-phlorizin hydrolase preproprotein							98.0	92.0	94.0					2																	136570155		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570155G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2079C>T	2.37:g.136570155G>A							p.N693N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2090	-			693			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.2079C>T	CCDS2178.1																																																																																				0.547	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																						uc002yea.3																			1	Substitution - Missense(1)	p.V324I(1)	ovary(1)	ovary(1)|skin(1)	2						c.(970-972)GTC>ATC		vesicular nucleotide transporter SLC17A9							157.0	172.0	167.0					20																	61596986		2121	4242	6363	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596986G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile					SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	p.V324I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			10	1154	+			324			Helical; (Potential).		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.970G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
RGL4	266747	broad.mit.edu	37	22	24040417	24040417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:24040417G>T	ENST00000290691.5	+	10	2449	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Nonsense_Mutation_p.E291*|RGL4_ENST00000460167.1_3'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	427	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGTTCTGCAGGAAATGCAGCT	0.547																																						uc002zxn.2																			0				ovary(1)	1						c.(1279-1281)GAA>TAA		ral guanine nucleotide dissociation							42.0	42.0	42.0					22																	24040417		2203	4300	6503	SO:0001587	stop_gained	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24040417G>T		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1279G>T	22.37:g.24040417G>T	ENSP00000290691:p.Glu427*					LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.2_Nonsense_Mutation_p.E291*	p.E427*	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			10	2449	+			427			Ras-GEF.		Q495L8	Nonsense_Mutation	SNP	ENST00000290691.5	37	c.1279G>T	CCDS13811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	12.35|12.35	1.910470|1.910470	0.33721|0.33721	.|.	.|.	ENSG00000159496|ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392|ENST00000452208	.|.	.|.	.|.	2.21|2.21	-0.2|-0.2	0.13216|0.13216	.|.	0.094640|.	0.42964|.	U|.	0.000637|.	.|T	.|0.29749	.|0.0743	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35871	.|-0.9771	.|3	0.56958|.	D|.	0.05|.	.|.	4.6255|4.6255	0.12476|0.12476	0.1473:0.4424:0.4104:0.0|0.1473:0.4424:0.4104:0.0	.|.	.|.	.|.	.|.	X|V	291;427;427;427|108	.|.	ENSP00000290691:E427X|.	E|G	+|+	1|2	0|0	RGL4|RGL4	22370417|22370417	0.995000|0.995000	0.38212|0.38212	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	2.540000|2.540000	0.45727|0.45727	0.028000|0.028000	0.15324|0.15324	-0.682000|-0.682000	0.03756|0.03756	GAA|GGA		0.547	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615	
CHEK2	11200	broad.mit.edu	37	22	29130518	29130518	+	Silent	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:29130518C>T	ENST00000405598.1	-	3	383	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CHEK2_ENST00000382578.1_Silent_p.E64E|CHEK2_ENST00000328354.6_Silent_p.E64E|CHEK2_ENST00000402731.1_Silent_p.E64E|CHEK2_ENST00000382565.1_Silent_p.E64E|CHEK2_ENST00000403642.1_Silent_p.E64E|CHEK2_ENST00000382566.1_Silent_p.E64E|CHEK2_ENST00000404276.1_Silent_p.E64E|CHEK2_ENST00000382580.2_Silent_p.E64E|CHEK2_ENST00000348295.3_Silent_p.E64E|CHEK2_ENST00000544772.1_5'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	64			E -> K (in prostate cancer; somatic mutation). {ECO:0000269|PubMed:12533788}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGGACACTGTCTCTAAGGAGC	0.567			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(190-192)GAG>GAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							113.0	110.0	111.0					22																	29130518		2203	4300	6503	SO:0001819	synonymous_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29130518C>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.192G>A	22.37:g.29130518C>T						CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adw.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Silent_p.E64E|CHEK2_uc003adz.1_5'UTR	p.E64E	NM_007194	NP_009125	O96017	CHK2_HUMAN			2	264	-			64		E -> K (in prostate cancer; somatic mutation).			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.192G>A	CCDS13843.1																																																																																				0.567	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
SBF1	6305	broad.mit.edu	37	22	50901747	50901747	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:50901747C>G	ENST00000390679.3	-	16	2048	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	SBF1_ENST00000380817.3_Missense_Mutation_p.D622H|SBF1_ENST00000348911.6_Missense_Mutation_p.D623H			O95248	MTMR5_HUMAN	SET binding factor 1	622					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACAAAGTCAAACTGCTGG	0.632																																						uc003blh.2																			0					0						c.(1864-1866)GAC>CAC		SET binding factor 1							43.0	43.0	43.0					22																	50901747		2107	4222	6329	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901747C>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1864G>C	22.37:g.50901747C>G	ENSP00000375097:p.Asp622His					SBF1_uc011arx.1_Missense_Mutation_p.D286H|SBF1_uc003bli.2_Missense_Mutation_p.D623H	p.D622H	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	16	2059	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	622					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1864G>C		.	.	.	.	.	.	.	.	.	.	C	29.3	4.996404	0.93167	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.66815	-0.23;-0.23;-0.23	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84972	0.0883	10	0.87932	D	0	.	17.7229	0.88357	0.0:1.0:0.0:0.0	.	622;623;622	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	H	622;623;633;632;622	ENSP00000370196:D622H;ENSP00000252027:D623H;ENSP00000375097:D622H	ENSP00000336522:D632H	D	-	1	0	SBF1	49248613	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.383000	0.79741	2.502000	0.84385	0.655000	0.94253	GAC		0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
OR5K4	403278	broad.mit.edu	37	3	98072858	98072858	+	Missense_Mutation	SNP	G	G	A	rs201188789		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:98072858G>A	ENST00000354924.2	+	1	161	c.161G>A	c.(160-162)cGt>cAt	p.R54H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTAGAGCGTCGTCTTCTCACA	0.473																																						uc011bgv.1																			0				central_nervous_system(1)	1						c.(160-162)CGT>CAT		olfactory receptor, family 5, subfamily K,		G	HIS/ARG	0,4406		0,0,2203	302.0	292.0	295.0		161	-4.7	0.0	3		295	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR5K4	NM_001005517.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	54/322	98072858	1,13005	2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072858G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.161G>A	3.37:g.98072858G>A	ENSP00000347003:p.Arg54His						p.R54H	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	161	+			54			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.161G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.007308	0.00426	0.0	1.16E-4	ENSG00000196098	ENST00000354924	T	0.01139	5.28	4.77	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	0.261109	0.20108	N	0.099065	T	0.00754	0.0025	N	0.16233	0.39	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.46205	-0.9208	10	0.14252	T	0.57	-2.0386	12.2988	0.54862	0.6296:0.0:0.3704:0.0	.	54	A6NMS3	OR5K4_HUMAN	H	54	ENSP00000347003:R54H	ENSP00000347003:R54H	R	+	2	0	OR5K4	99555548	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-2.711000	0.00817	-1.018000	0.03363	-1.060000	0.02296	CGT		0.473	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
FSTL1	11167	broad.mit.edu	37	3	120122088	120122088	+	Splice_Site	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:120122088C>T	ENST00000295633.3	-	8	1051		c.e8+1		FSTL1_ENST00000424703.2_Splice_Site	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1						BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GTTAGGCATACTCTTCTCAGG	0.443																																						uc003eds.2																			0				central_nervous_system(1)	1						c.e8+1		follistatin-like 1 precursor							89.0	89.0	89.0					3																	120122088		2203	4300	6503	SO:0001630	splice_region_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120122088C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.694+1G>A	3.37:g.120122088C>T						FSTL1_uc011bjh.1_Splice_Site_p.K197_splice	p.K232_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	869	-								A8K523|B4DTT5|D3DN90|Q549Z0	Splice_Site	SNP	ENST00000295633.3	37	c.694_splice	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298981	0.81025	.	.	ENSG00000163430	ENST00000295633;ENST00000480823;ENST00000539471;ENST00000424703	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0158	0.89239	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL1	121604778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.408000	0.80041	2.937000	0.99478	0.650000	0.86243	.		0.443	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085	Intron
CSN1S1	1446	broad.mit.edu	37	4	70810645	70810645	+	Silent	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:70810645T>C	ENST00000246891.4	+	15	529	c.480T>C	c.(478-480)ccT>ccC	p.P160P	CSN1S1_ENST00000507772.1_Silent_p.P152P|CSN1S1_ENST00000505782.1_Silent_p.P144P|CSN1S1_ENST00000507763.1_Silent_p.P151P|CSN1S1_ENST00000444405.3_Silent_p.P151P	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	160						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGTATGTTCCTTTCCCACCGT	0.403																																						uc003hep.1																			0					0						c.(478-480)CCT>CCC		casein alpha s1 isoform 1							328.0	312.0	317.0					4																	70810645		1951	4140	6091	SO:0001819	synonymous_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70810645T>C	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.480T>C	4.37:g.70810645T>C						CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	p.P160P	NM_001890	NP_001881	P47710	CASA1_HUMAN			15	529	+			160					A1A510|A1A511|E9PB60|Q4PNR5	Silent	SNP	ENST00000246891.4	37	c.480T>C	CCDS47067.1																																																																																				0.403	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1		
SEC31A	22872	broad.mit.edu	37	4	83785658	83785658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:83785658G>A	ENST00000395310.2	-	11	1473	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q426*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q203*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q431*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q431*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	431	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTACAACCTGACTAATGAAC	0.438																																						uc003hnf.2																		SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1291-1293)CAG>TAG		SEC31 homolog A isoform 1							128.0	123.0	125.0					4																	83785658		2203	4300	6503	SO:0001587	stop_gained	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785658G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1291C>T	4.37:g.83785658G>A	ENSP00000378721:p.Gln431*					SEC31A_uc003hne.2_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q426*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q431*	p.Q431*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			11	1455	-		Hepatocellular(203;0.114)	431			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	c.1291C>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.920247|5.920247	0.97105|0.97105	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828	.|T	.|0.20881	.|2.04	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.47154	.|0.1430	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44190	.|-0.9344	.|5	0.87932|0.66056	D|D	0|0.02	-8.2865|-8.2865	19.593|19.593	0.95523|0.95523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	431;431;431;426;431;431;431;431;431;431;431;431;431;203;431;431;32|73	.|ENSP00000426562:S73L	ENSP00000264405:Q203X|ENSP00000426562:S73L	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	84004682|84004682	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.008000|0.008000	0.06430|0.06430	9.847000|9.847000	0.99503|0.99503	2.618000|2.618000	0.88619|0.88619	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.438	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
HSP90AB3P	3327	broad.mit.edu	37	4	88813583	88813583	+	IGR	SNP	G	G	A	rs3828551	byFrequency	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:88813583G>A								MEPE (45614 upstream) : SPP1 (83235 downstream)																							GAAGAGAGGCGGGTCAAAGAA	0.448													g|||	984	0.196486	0.1626	0.2061	5008	,	,		20599	0.3105		0.1759	False		,,,				2504	0.1391					uc010iko.1																			0											c.(526-528)CGG>CAG		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88813583G>A																													4.37:g.88813583G>A							p.R176Q							2	527	+									Missense_Mutation	SNP		37	c.527G>A																																																																																				0	0.448								
MAST4	375449	broad.mit.edu	37	5	66416900	66416900	+	Missense_Mutation	SNP	C	C	T	rs367779827		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:66416900C>T	ENST00000403625.2	+	14	2010	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	MAST4_ENST00000403666.1_Missense_Mutation_p.T383M|MAST4_ENST00000405643.1_Missense_Mutation_p.T393M|MAST4_ENST00000404260.3_Missense_Mutation_p.T575M|MAST4_ENST00000261569.7_Missense_Mutation_p.T378M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	575						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATTTTGAAACGATTAAATTG	0.328																																						uc003jut.1																			0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(1147-1149)ACG>ATG		microtubule associated serine/threonine kinase		C	MET/THR,MET/THR	0,3622		0,0,1811	62.0	58.0	60.0		1715,1148	5.7	1.0	5		60	1,8141		0,1,4070	no	missense,missense	MAST4	NM_001164664.1,NM_015183.2	81,81	0,1,5881	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging,probably-damaging	572/2624,383/2435	66416900	1,11763	1811	4071	5882	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66416900C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1715C>T	5.37:g.66416900C>T	ENSP00000385727:p.Thr572Met					MAST4_uc003juu.1_Missense_Mutation_p.T393M|MAST4_uc011cra.1_Missense_Mutation_p.T366M|MAST4_uc003juv.2_Missense_Mutation_p.T378M|MAST4_uc003juw.2_Missense_Mutation_p.T378M	p.T383M	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	13	1216	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	575			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1148C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529526	0.64860	0.0	1.23E-4	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047619	0.85682	D	0.000000	T	0.40619	0.1124	L	0.31926	0.97	0.41967	D	0.990737	P;D;D;P	0.69078	0.902;0.986;0.997;0.881	P;P;P;P	0.62014	0.487;0.85;0.897;0.474	T	0.11641	-1.0579	10	0.52906	T	0.07	-15.4935	19.8448	0.96704	0.0:1.0:0.0:0.0	.	393;575;378;383	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	M	575;572;383;393;393;378;378	ENSP00000385048:T575M;ENSP00000385727:T572M;ENSP00000384313:T383M;ENSP00000384099:T393M;ENSP00000261569:T378M	ENSP00000261569:T378M	T	+	2	0	MAST4	66452656	0.998000	0.40836	0.964000	0.40570	0.984000	0.73092	3.626000	0.54245	2.686000	0.91538	0.650000	0.86243	ACG		0.328	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
GPR98	84059	broad.mit.edu	37	5	89981650	89981650	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:89981650A>G	ENST00000405460.2	+	29	6424	c.6328A>G	c.(6328-6330)Atc>Gtc	p.I2110V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2110	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAACTAATTATCATTGCCAA	0.413																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6328-6330)ATC>GTC		G protein-coupled receptor 98 precursor							116.0	103.0	107.0					5																	89981650		1917	4130	6047	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981650A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6328A>G	5.37:g.89981650A>G	ENSP00000384582:p.Ile2110Val					GPR98_uc003kjt.2_5'UTR	p.I2110V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6424	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2110			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6328A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888617	0.33348	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.49720	0.77	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.100570	0.64402	D	0.000002	T	0.59280	0.2182	M	0.70275	2.135	0.80722	D	1	P	0.41366	0.747	P	0.47786	0.557	T	0.63462	-0.6632	10	0.72032	D	0.01	.	16.1416	0.81528	1.0:0.0:0.0:0.0	.	2110	Q8WXG9	GPR98_HUMAN	V	2110	ENSP00000384582:I2110V	ENSP00000296619:I2110V	I	+	1	0	GPR98	90017406	1.000000	0.71417	0.138000	0.22173	0.247000	0.25773	5.980000	0.70516	2.209000	0.71365	0.482000	0.46254	ATC		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHB3	56132	broad.mit.edu	37	5	140481632	140481632	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140481632G>A	ENST00000231130.2	+	1	1399	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.622																																						uc003lio.2																			0				ovary(1)|pancreas(1)	2						c.(1399-1401)GCC>ACC		protocadherin beta 3 precursor							80.0	81.0	81.0					5																	140481632		2203	4296	6499	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481632G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1399G>A	5.37:g.140481632G>A	ENSP00000231130:p.Ala467Thr					uc003lin.2_Intron	p.A467T	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1399	+			467			Extracellular (Potential).|Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1399G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851357	0.91355	.	.	ENSG00000113205	ENST00000231130	T	0.60548	0.18	4.22	4.22	0.49857	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68769	0.3037	L	0.41710	1.295	0.44595	D	0.997562	D	0.89917	1.0	D	0.97110	1.0	T	0.73500	-0.3963	9	0.87932	D	0	.	16.6333	0.85039	0.0:0.0:1.0:0.0	.	467	Q9Y5E6	PCDB3_HUMAN	T	467	ENSP00000231130:A467T	ENSP00000231130:A467T	A	+	1	0	PCDHB3	140461816	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	3.820000	0.55693	2.080000	0.62538	0.558000	0.71614	GCC		0.622	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB13	56123	broad.mit.edu	37	5	140595599	140595599	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140595599C>T	ENST00000341948.4	+	1	2091	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGCGACGCGGCCAAGCAC	0.692																																						uc003lja.1																			0				skin(2)|ovary(1)	3						c.(1903-1905)GCG>GTG		protocadherin beta 13 precursor							17.0	19.0	18.0					5																	140595599		1671	3486	5157	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595599C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1904C>T	5.37:g.140595599C>T	ENSP00000345491:p.Ala635Val						p.A635V	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2091	+			635			Cadherin 6.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1904C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	10.97	1.502797	0.26949	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51325	0.71	3.6	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31606	0.0802	L	0.28608	0.87	0.09310	N	1	B	0.22683	0.073	B	0.21360	0.034	T	0.20907	-1.0261	9	0.38643	T	0.18	.	4.4303	0.11524	0.0:0.5883:0.1877:0.2241	.	635	Q9Y5F0	PCDBD_HUMAN	V	635;635;581	ENSP00000345491:A635V	ENSP00000345491:A635V	A	+	2	0	PCDHB13	140575783	0.000000	0.05858	0.726000	0.30738	0.729000	0.41735	-0.285000	0.08410	0.478000	0.27488	0.298000	0.19748	GCG		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
SNX9	51429	broad.mit.edu	37	6	158342573	158342573	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr6:158342573A>T	ENST00000392185.3	+	10	1131	c.960A>T	c.(958-960)gaA>gaT	p.E320D		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	320	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCCGCTTTGAAGAGGAATTTA	0.423																																						uc003qqv.1																			0					0						c.(958-960)GAA>GAT		sorting nexin 9							83.0	81.0	82.0					6																	158342573		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158342573A>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.960A>T	6.37:g.158342573A>T	ENSP00000376024:p.Glu320Asp						p.E320D	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	10	1133	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	320			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.960A>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187622	0.57909	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.27557	1.66	5.4	3.06	0.35304	Phox homologous domain (5);	0.123923	0.64402	D	0.000017	T	0.06735	0.0172	N	0.05330	-0.07	0.80722	D	1	B	0.26547	0.152	B	0.22880	0.042	T	0.07888	-1.0749	10	0.59425	D	0.04	-32.6664	7.1632	0.25675	0.7571:0.0:0.2429:0.0	.	320	Q9Y5X1	SNX9_HUMAN	D	320;320;120	ENSP00000376024:E320D	ENSP00000252631:E120D	E	+	3	2	SNX9	158262561	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.531000	0.36018	2.527000	0.85204	0.462000	0.41574	GAA		0.423	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		
FTSJ2	29960	broad.mit.edu	37	7	2281798	2281798	+	Splice_Site	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:2281798C>T	ENST00000242257.8	-	1	35	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	NUDT1_ENST00000397049.1_5'Flank|NUDT1_ENST00000356714.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000440306.2_Splice_Site_p.G3R|NUDT1_ENST00000397046.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000339737.2_5'Flank|NUDT1_ENST00000343985.4_5'Flank|FTSJ2_ENST00000407040.1_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)											endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCAGCTCACCCCGCCATTGGT	0.736																																						uc003slm.2																			0				ovary(1)	1						c.(7-9)GGG>AGG		FtsJ homolog 2							8.0	13.0	11.0					7																	2281798		2083	4146	6229	SO:0001630	splice_region_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2281798C>T	AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.8+1G>A	7.37:g.2281798C>T						FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	p.G3R	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	1	36	-		Ovarian(82;0.0253)	3						Missense_Mutation	SNP	ENST00000242257.8	37	c.7G>A	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	C	1.861	-0.462601	0.04508	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.42900	0.96;1.55	1.98	-0.117	0.13551	.	1.075520	0.07404	N	0.891302	T	0.14098	0.0341	N	0.02736	-0.51	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26467	-1.0102	10	0.05525	T	0.97	0.4709	3.437	0.07449	0.0:0.5601:0.2656:0.1743	.	3	Q9UI43	RRMJ2_HUMAN	R	3	ENSP00000242257:G3R;ENSP00000392343:G3R	ENSP00000242257:G3R	G	-	1	0	FTSJ2	2248324	0.001000	0.12720	0.147000	0.22382	0.340000	0.28889	-0.910000	0.04054	-0.043000	0.13513	0.561000	0.74099	GGG		0.736	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393	Missense_Mutation
COL28A1	340267	broad.mit.edu	37	7	7412882	7412882	+	Silent	SNP	G	G	A	rs368864863		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:7412882G>A	ENST00000399429.3	-	32	2795	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	885	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAAACATGTCGTTGGCTGCTT	0.488																																						uc003src.1																			0				skin(3)	3						c.(2653-2655)AAC>AAT		collagen, type XXVIII precursor		G		0,4038		0,0,2019	92.0	87.0	89.0		2655	-3.8	0.0	7		89	1,8361		0,1,4180	no	coding-synonymous	COL28A1	NM_001037763.2		0,1,6199	AA,AG,GG		0.012,0.0,0.0081		885/1126	7412882	1,12399	2019	4181	6200	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412882G>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2655C>T	7.37:g.7412882G>A						COL28A1_uc011jxe.1_Silent_p.N568N	p.N885N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2772	-		Ovarian(82;0.0789)	885			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2655C>T	CCDS43553.1																																																																																				0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
ABCB1	5243	broad.mit.edu	37	7	87190619	87190619	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:87190619T>A	ENST00000265724.3	-	9	1204	c.787A>T	c.(787-789)Act>Tct	p.T263S	ABCB1_ENST00000543898.1_Missense_Mutation_p.T199S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	263	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCAATCACAGTTCTAATTGCT	0.343																																						uc003uiz.1																			0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(787-789)ACT>TCT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						82.0	82.0	82.0					7																	87190619		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190619T>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.787A>T	7.37:g.87190619T>A	ENSP00000265724:p.Thr263Ser					ABCB1_uc011khc.1_Missense_Mutation_p.T199S	p.T263S	NM_000927	NP_000918	P08183	MDR1_HUMAN			9	1205	-	Esophageal squamous(14;0.00164)		263			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.787A>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	31	5.091172	0.94149	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94092	-3.35;-3.35	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.95224	3.64	0.80722	D	1	D;B	0.76494	0.999;0.237	D;B	0.64595	0.927;0.254	D	0.98710	1.0704	10	0.87932	D	0	-27.941	16.0292	0.80564	0.0:0.0:0.0:1.0	.	199;263	B5AK60;P08183	.;MDR1_HUMAN	S	44;263;199	ENSP00000265724:T263S;ENSP00000444095:T199S	ENSP00000265724:T263S	T	-	1	0	ABCB1	87028555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.187000	0.69744	0.533000	0.62120	ACT		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
DLD	1738	broad.mit.edu	37	7	107557761	107557761	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:107557761C>T	ENST00000205402.5	+	11	1371	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	DLD_ENST00000437604.2_Missense_Mutation_p.H316Y|DLD_ENST00000440410.1_Missense_Mutation_p.H341Y|DLD_ENST00000537148.1_Missense_Mutation_p.H265Y	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	364					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AATGCTGGCTCACAAAGCAGA	0.428																																						uc003vet.2																			0				central_nervous_system(1)	1						c.(1090-1092)CAC>TAC		dihydrolipoamide dehydrogenase precursor	NADH(DB00157)						255.0	214.0	228.0					7																	107557761		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107557761C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.1090C>T	7.37:g.107557761C>T	ENSP00000205402:p.His364Tyr					DLD_uc011kmg.1_Missense_Mutation_p.H316Y|DLD_uc011kmh.1_Missense_Mutation_p.H341Y|DLD_uc011kmi.1_Missense_Mutation_p.H265Y	p.H364Y	NM_000108	NP_000099	P09622	DLDH_HUMAN			11	1200	+			364			FAD.		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.1090C>T	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096727	0.94197	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.72394	-0.63;-0.63;-0.5;-0.65;-0.63	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.88786	0.3274	10	0.87932	D	0	-13.4975	20.3151	0.98650	0.0:1.0:0.0:0.0	.	341;316;364	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	Y	364;364;265;341;316;314	ENSP00000205402:H364Y;ENSP00000390667:H364Y;ENSP00000442399:H265Y;ENSP00000417016:H341Y;ENSP00000387542:H316Y	ENSP00000205402:H364Y	H	+	1	0	DLD	107344997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	CAC		0.428	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	
TFEC	22797	broad.mit.edu	37	7	115582025	115582025	+	Silent	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:115582025T>C	ENST00000265440.7	-	7	765	c.585A>G	c.(583-585)gaA>gaG	p.E195E	TFEC_ENST00000457268.1_Silent_p.E128E|TFEC_ENST00000484212.1_Silent_p.E285E|TFEC_ENST00000320239.7_Silent_p.E166E|TFEC_ENST00000393485.1_Silent_p.E166E	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	195					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTCTGTTGTTCTTTTTGTA	0.408																																						uc003vhj.1																			0				large_intestine(1)	1						c.(583-585)GAA>GAG		transcription factor EC isoform a							212.0	203.0	206.0					7																	115582025		2203	4300	6503	SO:0001819	synonymous_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115582025T>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.585A>G	7.37:g.115582025T>C						TFEC_uc003vhk.1_Silent_p.E166E|TFEC_uc003vhl.3_Silent_p.E166E|TFEC_uc011kmw.1_Silent_p.E285E	p.E195E	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		7	769	-			195					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	ENST00000265440.7	37	c.585A>G	CCDS5762.1																																																																																				0.408	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
MYOM2	9172	broad.mit.edu	37	8	2092880	2092880	+	Missense_Mutation	SNP	C	C	T	rs562106463		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:2092880C>T	ENST00000262113.4	+	37	4514	c.4373C>T	c.(4372-4374)gCg>gTg	p.A1458V	MYOM2_ENST00000523438.1_Missense_Mutation_p.A883V|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1458					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCATCCCCGCGTCTGCCTCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18948	0.001		0.0	False		,,,				2504	0.0					uc003wpx.3																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4372-4374)GCG>GTG		myomesin 2							51.0	48.0	49.0					8																	2092880		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092880C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4373C>T	8.37:g.2092880C>T	ENSP00000262113:p.Ala1458Val					MYOM2_uc011kwi.1_Missense_Mutation_p.A883V	p.A1458V	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4511	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1458					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4373C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988734	0.74589	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.52754	0.65;0.82	5.35	5.35	0.76521	.	0.055120	0.64402	D	0.000001	T	0.29093	0.0723	N	0.08118	0	0.41169	D	0.986158	P	0.52692	0.955	B	0.36378	0.223	T	0.36212	-0.9757	10	0.59425	D	0.04	.	19.4438	0.94838	0.0:1.0:0.0:0.0	.	1458	P54296	MYOM2_HUMAN	V	1458;883	ENSP00000262113:A1458V;ENSP00000428396:A883V	ENSP00000262113:A1458V	A	+	2	0	MYOM2	2080287	0.979000	0.34478	0.127000	0.21898	0.029000	0.11900	5.893000	0.69798	2.655000	0.90218	0.655000	0.94253	GCG		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
RB1CC1	9821	broad.mit.edu	37	8	53573548	53573548	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:53573548T>C	ENST00000025008.5	-	11	2088	c.1565A>G	c.(1564-1566)aAa>aGa	p.K522R	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.K522R|RB1CC1_ENST00000435644.2_Missense_Mutation_p.K522R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	522					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTTCCATCTTTGACTAAAGC	0.284																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(1564-1566)AAA>AGA		Rb1-inducible coiled coil protein 1 isoform 1							65.0	61.0	62.0					8																	53573548		2202	4297	6499	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573548T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1565A>G	8.37:g.53573548T>C	ENSP00000025008:p.Lys522Arg					RB1CC1_uc003xrf.3_Missense_Mutation_p.K522R	p.K522R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			11	2123	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	522					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1565A>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610174	0.28712	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15487	2.43;2.42;2.42	5.65	4.48	0.54585	.	0.116039	0.64402	D	0.000020	T	0.14614	0.0353	L	0.51422	1.61	0.46356	D	0.999008	B;B	0.14805	0.011;0.007	B;B	0.17098	0.017;0.007	T	0.04103	-1.0977	10	0.07482	T	0.82	-30.0585	11.8721	0.52527	0.0:0.0698:0.0:0.9302	.	522;522	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	R	522	ENSP00000025008:K522R;ENSP00000396067:K522R;ENSP00000445960:K522R	ENSP00000025008:K522R	K	-	2	0	RB1CC1	53736101	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.808000	0.47963	2.147000	0.66899	0.377000	0.23210	AAA		0.284	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
C8orf34	116328	broad.mit.edu	37	8	69381052	69381052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:69381052C>T	ENST00000539993.1	+	4	1024	c.475C>T	c.(475-477)Cga>Tga	p.R159*	C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.R134*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.R245*|C8orf34_ENST00000348340.2_Nonsense_Mutation_p.R159*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	159										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAATCTCTCTCGAAGTAAGTT	0.393																																						uc010lyz.2																			0				large_intestine(1)	1						c.(475-477)CGA>TGA		hypothetical protein LOC116328							67.0	64.0	65.0					8																	69381052		2203	4300	6503	SO:0001587	stop_gained	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69381052C>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.475C>T	8.37:g.69381052C>T	ENSP00000438159:p.Arg159*					C8orf34_uc010lyy.1_Nonsense_Mutation_p.R159*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.R134*	p.R159*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		4	524	+			159					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37	c.475C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.735948	0.99251	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	.	.	.	5.51	3.45	0.39498	.	0.057733	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9785	15.5875	0.76495	0.2789:0.7211:0.0:0.0	.	.	.	.	X	245;159;159;134	.	.	R	+	1	2	C8orf34	69543606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.763000	0.55257	1.254000	0.44035	0.591000	0.81541	CGA		0.393	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
FAM135B	51059	broad.mit.edu	37	8	139164211	139164211	+	Missense_Mutation	SNP	G	G	C	rs202046414		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:139164211G>C	ENST00000395297.1	-	13	2677	c.2507C>G	c.(2506-2508)gCt>gGt	p.A836G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	836										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGGTTGTCAGCATCTAAAAC	0.522										HNSCC(54;0.14)																												uc003yuy.2																			0				ovary(7)|skin(2)	9						c.(2506-2508)GCT>GGT		hypothetical protein LOC51059							94.0	84.0	87.0					8																	139164211		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164211G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2507C>G	8.37:g.139164211G>C	ENSP00000378710:p.Ala836Gly	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A737G|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A398G|FAM135B_uc003yvb.2_Missense_Mutation_p.A398G	p.A836G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2678	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		836					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2507C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.389	1.074903	0.20227	.	.	ENSG00000147724	ENST00000395297	T	0.15952	2.38	5.53	4.65	0.58169	.	0.829218	0.11223	N	0.586480	T	0.16041	0.0386	L	0.32530	0.975	0.09310	N	0.999999	B;B;B	0.16802	0.019;0.008;0.001	B;B;B	0.19946	0.027;0.015;0.002	T	0.21143	-1.0254	10	0.31617	T	0.26	-3.159	13.4611	0.61227	0.0:0.1571:0.8429:0.0	.	836;836;836	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	G	836	ENSP00000378710:A836G	ENSP00000276737:A836G	A	-	2	0	FAM135B	139233393	0.001000	0.12720	0.092000	0.20876	0.045000	0.14185	1.016000	0.29976	1.314000	0.45095	-0.176000	0.13171	GCT		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM120A	23196	broad.mit.edu	37	9	96294445	96294445	+	Silent	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:96294445C>A	ENST00000277165.6	+	10	1937	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	FAM120A_ENST00000340893.4_Silent_p.I581I|FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000333936.5_Silent_p.I609I	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	581						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGGTGAAATCAAAATTGCTG	0.393																																						uc004atw.2																			0					0						c.(1741-1743)ATC>ATA		oxidative stress-associated Src activator							130.0	141.0	137.0					9																	96294445		2203	4300	6503	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96294445C>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1743C>A	9.37:g.96294445C>A						FAM120A_uc004atx.2_Silent_p.I363I|FAM120A_uc004aty.2_Silent_p.I362I|FAM120A_uc004atz.2_Silent_p.I230I|FAM120A_uc010mrg.2_5'UTR	p.I581I	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			10	1768	+			581					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.1743C>A	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013318	0.19277	.	.	ENSG00000048828	ENST00000446420	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.545	9.7831	0.40660	0.0:0.7863:0.1411:0.0726	.	.	.	.	X	424	.	.	S	+	2	0	FAM120A	95334266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.093000	0.30939	2.725000	0.93324	0.655000	0.94253	TCA		0.393	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
QRFP	347148	broad.mit.edu	37	9	133768879	133768879	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:133768879G>A	ENST00000343079.1	-	1	346	c.347C>T	c.(346-348)gCt>gTt	p.A116V		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GAGCTCCTCAGCCAGGTTCCC	0.632																																						uc011mcb.1																			0					0						c.(346-348)GCT>GTT		RF(Arg-Phe)amide family 26 amino acid peptide							56.0	65.0	62.0					9																	133768879		2203	4300	6503	SO:0001583	missense	347148				locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding	g.chr9:133768879G>A	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"""Endogenous ligands"""	29982	protein-coding gene	gene with protein product	"""prepro-QRFP"""	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.347C>T	9.37:g.133768879G>A	ENSP00000345487:p.Ala116Val						p.A116V	NM_198180	NP_937823	P83859	OX26_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)	1	347	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	116						Missense_Mutation	SNP	ENST00000343079.1	37	c.347C>T	CCDS6936.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847429	0.91277	.	.	ENSG00000188710	ENST00000343079	T	0.57436	0.4	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000039	T	0.72542	0.3473	M	0.73962	2.25	0.49798	D	0.999825	D	0.89917	1.0	D	0.97110	1.0	T	0.77289	-0.2643	10	0.87932	D	0	-6.6114	16.6221	0.84933	0.0:0.0:1.0:0.0	.	116	P83859	OX26_HUMAN	V	116	ENSP00000345487:A116V	ENSP00000345487:A116V	A	-	2	0	QRFP	132758700	1.000000	0.71417	0.918000	0.36340	0.841000	0.47740	4.828000	0.62730	2.233000	0.73108	0.462000	0.41574	GCT		0.632	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180	
MXRA5	25878	broad.mit.edu	37	X	3239887	3239887	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:3239887C>T	ENST00000217939.6	-	5	3993	c.3839G>A	c.(3838-3840)aGa>aAa	p.R1280K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1280						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAACAGTTCTAGGCAAAAG	0.408																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3838-3840)AGA>AAA		adlican precursor							113.0	108.0	110.0					X																	3239887		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239887C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3839G>A	X.37:g.3239887C>T	ENSP00000217939:p.Arg1280Lys						p.R1280K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3996	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1280					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3839G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	2.458	-0.324861	0.05350	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61040	0.14	3.51	-0.675	0.11364	.	0.812162	0.10298	U	0.691516	T	0.28034	0.0691	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.22941	-1.0202	10	0.02654	T	1	.	7.5739	0.27924	0.1657:0.629:0.2053:0.0	.	1280	Q9NR99	MXRA5_HUMAN	K	1280	ENSP00000217939:R1280K	ENSP00000217939:R1280K	R	-	2	0	MXRA5	3249887	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.006000	0.13152	-0.842000	0.04195	-2.059000	0.00401	AGA		0.408	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
ZXDB	158586	broad.mit.edu	37	X	57619132	57619132	+	Missense_Mutation	SNP	T	T	A	rs199767764		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:57619132T>A	ENST00000374888.1	+	1	864	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.H217Q(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGTTCCCGCATGCCGCGCACC	0.746																																						uc004dvd.2																			1	Substitution - Missense(1)		NS(1)		0						c.(649-651)CAT>CAA		zinc finger, X-linked, duplicated B							7.0	9.0	9.0					X																	57619132		2155	4173	6328	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619132T>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.651T>A	X.37:g.57619132T>A	ENSP00000364023:p.His217Gln						p.H217Q	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	864	+			217					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.651T>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	8.718	0.913703	0.17907	.	.	ENSG00000198455	ENST00000374888	T	0.10005	2.92	3.04	-3.05	0.05396	.	0.638667	0.13057	N	0.417164	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.25048	0.117	B	0.22152	0.038	T	0.44636	-0.9315	10	0.12103	T	0.63	.	5.024	0.14376	0.0:0.2273:0.2511:0.5216	.	217	P98169	ZXDB_HUMAN	Q	217	ENSP00000364023:H217Q	ENSP00000364023:H217Q	H	+	3	2	ZXDB	57635857	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.835000	0.04386	-0.656000	0.05380	-0.283000	0.09986	CAT		0.746	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157	
CHM	1121	broad.mit.edu	37	X	85218739	85218739	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:85218739C>A	ENST00000357749.2	-	5	662	c.633G>T	c.(631-633)aaG>aaT	p.K211N	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.K63N	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	211					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTCTGTTTTTCTTTGGTTGCT	0.333																																						uc004eet.2																			0				ovary(1)	1						c.(631-633)AAG>AAT		choroideremia isoform a							110.0	88.0	95.0					X																	85218739		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218739C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.633G>T	X.37:g.85218739C>A	ENSP00000350386:p.Lys211Asn					CHM_uc011mqz.1_Missense_Mutation_p.K63N	p.K211N	NM_000390	NP_000381	P24386	RAE1_HUMAN			5	663	-		all_lung(315;5.41e-06)	211					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.633G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855659	0.17106	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59502	0.26;0.26	4.5	4.5	0.54988	.	0.431179	0.26377	N	0.024728	T	0.52581	0.1743	L	0.49350	1.555	0.40526	D	0.980882	B	0.21309	0.054	B	0.33254	0.16	T	0.49670	-0.8915	10	0.23891	T	0.37	-20.5771	10.5275	0.44957	0.0:0.9067:0.0:0.0933	.	211	P24386	RAE1_HUMAN	N	211;63	ENSP00000350386:K211N;ENSP00000441728:K63N	ENSP00000350386:K211N	K	-	3	2	CHM	85105395	1.000000	0.71417	0.983000	0.44433	0.338000	0.28826	3.391000	0.52530	1.962000	0.57031	0.284000	0.19432	AAG		0.333	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390	
PCDH11X	27328	broad.mit.edu	37	X	91090731	91090731	+	Silent	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:91090731A>T	ENST00000373094.1	+	1	1073	c.228A>T	c.(226-228)cgA>cgT	p.R76R	PCDH11X_ENST00000504220.2_Silent_p.R76R|PCDH11X_ENST00000373097.1_Silent_p.R76R|PCDH11X_ENST00000361655.2_Silent_p.R76R|PCDH11X_ENST00000361724.1_Silent_p.R76R|PCDH11X_ENST00000298274.8_Silent_p.R76R|PCDH11X_ENST00000395337.2_Silent_p.R76R|PCDH11X_ENST00000406881.1_Silent_p.R76R|PCDH11X_ENST00000373088.1_Silent_p.R76R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACTGATTCGAATTGAAGAGG	0.443																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			0				large_intestine(2)	2						c.(226-228)CGA>CGT		protocadherin 11 X-linked isoform c							206.0	171.0	183.0					X																	91090731		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090731A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.228A>T	X.37:g.91090731A>T						PCDH11X_uc004efl.1_Silent_p.R76R|PCDH11X_uc004efo.1_Silent_p.R76R|PCDH11X_uc010nmv.1_Silent_p.R76R|PCDH11X_uc004efm.1_Silent_p.R76R|PCDH11X_uc004efn.1_Silent_p.R76R|PCDH11X_uc004efh.1_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	p.R76R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1073	+			76			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.228A>T	CCDS14461.1																																																																																				0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
