#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SEPT1	1731	broad.mit.edu	37	16	30389949	30389949	+	Silent	SNP	G	G	A	rs188765492		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:30389949G>A	ENST00000571393.1	-	11	1185	c.999C>T	c.(997-999)atC>atT	p.I333I	SEPT1_ENST00000605106.1_Silent_p.I338I|SEPT1_ENST00000321367.3_Silent_p.I380I			Q8WYJ6	SEPT1_HUMAN	septin 1	333					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTTTCTCGCGGATCAGCTTCT	0.657																																						ENST00000321367.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24						c.(1138-1140)atC>atT		septin 1							41.0	38.0	39.0					16																	30389949		2197	4300	6497	SO:0001819	synonymous_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30389949G>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.999C>T	16.37:g.30389949G>A						SEPT1_ENST00000571393.1_Silent_p.I333I|SEPT1_ENST00000605106.1_Silent_p.I338I	p.I380I	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		11	1185	-			333					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.1140C>T																																																																																					0.657	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		4	44	0	0	0	1	0	4	44				
ZNF519	162655	broad.mit.edu	37	18	14105045	14105045	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:14105045G>A	ENST00000590202.1	-	3	1646	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	498					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTGAGCTCCTGGTAAAAGCTT	0.408																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1492-1494)acC>acT		zinc finger protein 519							69.0	72.0	71.0					18																	14105045		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105045G>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1494C>T	18.37:g.14105045G>A						ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	p.T498T	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1646	-			498						Silent	SNP	ENST00000590202.1	37	c.1494C>T	CCDS32797.1																																																																																				0.408	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		10	121	0	0	0	1	0	10	121				
WDR46	9277	broad.mit.edu	37	6	33255197	33255197	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:33255197T>A	ENST00000374617.4	-	8	1170	c.814A>T	c.(814-816)Atc>Ttc	p.I272F	PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	272							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAGCGGCGGATACAGTGGAGC	0.562																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(814-816)Atc>Ttc		WD repeat domain 46							95.0	90.0	91.0					6																	33255197		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33255197T>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.814A>T	6.37:g.33255197T>A	ENSP00000363746:p.Ile272Phe						p.I272F	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			8	1170	-			272					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.814A>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485238	0.63962	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.16324	5.08;2.35	4.42	-2.13	0.07144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.297999	0.34314	N	0.004061	T	0.09247	0.0228	M	0.66297	2.02	0.58432	D	0.999996	P;P	0.41597	0.49;0.756	B;B	0.41374	0.265;0.355	T	0.11616	-1.0580	10	0.62326	D	0.03	-4.1944	10.1329	0.42689	0.0:0.5497:0.0:0.4503	.	218;272	B4DP15;O15213	.;WDR46_HUMAN	F	272;199	ENSP00000363746:I272F;ENSP00000405568:I199F	ENSP00000363746:I272F	I	-	1	0	WDR46	33363175	0.821000	0.29204	0.847000	0.33407	0.932000	0.56968	-0.268000	0.08607	-0.290000	0.09025	0.448000	0.29417	ATC		0.562	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		18	52	0	0	0	1	0	18	52				
GABRA5	2558	broad.mit.edu	37	15	27193200	27193200	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:27193200C>G	ENST00000335625.5	+	11	2097	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	GABRA5_ENST00000355395.5_Silent_p.V403V|GABRA5_ENST00000400081.3_Silent_p.V403V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	403					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CAACCTCAGTCTCAGTAAAAC	0.428																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1207-1209)gtC>gtG		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48.0	46.0	46.0					15																	27193200		1853	4099	5952	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193200C>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1209C>G	15.37:g.27193200C>G						GABRA5_ENST00000400081.3_Silent_p.V403V|GABRA5_ENST00000355395.5_Silent_p.V403V	p.V403V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	2097	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	403					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.1209C>G	CCDS45194.1																																																																																				0.428	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			3	18	0	0	0	1	0	3	18				
SMARCAL1	50485	broad.mit.edu	37	2	217279767	217279767	+	Missense_Mutation	SNP	C	C	T	rs202031614	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:217279767C>T	ENST00000357276.4	+	3	670	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R114C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	114			R -> H (in dbSNP:rs11555797).		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCACAGTCCACGTAGTCAAAT	0.488									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42	GRCh37	CI071460	SMARCAL1	I		c.(340-342)Cgt>Tgt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							70.0	66.0	68.0					2																	217279767		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279767C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.340C>T	2.37:g.217279767C>T	ENSP00000349823:p.Arg114Cys					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R114C	p.R114C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	670	+		Renal(323;0.0458)	114		R -> H (in dbSNP:rs11555797).			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.340C>T	CCDS2403.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	6.891	0.533948	0.13188	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000427645	T;T;T;T;T	0.31769	1.95;1.95;1.95;1.95;1.48	4.93	0.946	0.19549	.	0.829729	0.10843	N	0.627970	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	P	0.40931	0.733	B	0.27796	0.083	T	0.13202	-1.0518	10	0.56958	D	0.05	-1.1306	5.4955	0.16799	0.0:0.54:0.1378:0.3222	.	114	Q9NZC9	SMAL1_HUMAN	C	114;114;114;114;13	ENSP00000405077:R114C;ENSP00000349823:R114C;ENSP00000398969:R114C;ENSP00000350940:R114C;ENSP00000392997:R13C	ENSP00000349823:R114C	R	+	1	0	SMARCAL1	216988012	0.001000	0.12720	0.050000	0.19076	0.025000	0.11179	0.103000	0.15292	0.288000	0.22398	0.655000	0.94253	CGT		0.488	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			6	58	0	0	0	1	0	6	58				
MCM10	55388	broad.mit.edu	37	10	13213059	13213059	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:13213059G>A	ENST00000484800.2	+	3	248	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MCM10_ENST00000378694.1_Missense_Mutation_p.D49N|MCM10_ENST00000378714.3_Missense_Mutation_p.D49N			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	49	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTTGATGCCGACGGCGACGG	0.458																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(145-147)Gac>Aac		minichromosome maintenance complex component 10							142.0	145.0	144.0					10																	13213059		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13213059G>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.145G>A	10.37:g.13213059G>A	ENSP00000418268:p.Asp49Asn					MCM10_ENST00000378714.3_Missense_Mutation_p.D49N|MCM10_ENST00000484800.2_Missense_Mutation_p.D49N	p.D49N			Q7L590	MCM10_HUMAN			2	220	+			49					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.145G>A	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268658	0.40095	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.20881	2.07;2.07;2.04	5.7	4.78	0.61160	.	0.184413	0.56097	N	0.000027	T	0.26159	0.0638	M	0.66939	2.045	0.58432	D	0.999993	B;B;B	0.25667	0.08;0.131;0.047	B;B;B	0.22880	0.019;0.042;0.009	T	0.03784	-1.1004	10	0.54805	T	0.06	-14.0304	14.9653	0.71188	0.069:0.0:0.931:0.0	.	49;49;49	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	N	49	ENSP00000367986:D49N;ENSP00000418268:D49N;ENSP00000367966:D49N	ENSP00000354945:D49N	D	+	1	0	MCM10	13253065	1.000000	0.71417	0.834000	0.33040	0.028000	0.11728	4.758000	0.62220	1.382000	0.46385	0.655000	0.94253	GAC		0.458	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		6	217	0	0	0	1	0	6	217				
KCNIP2	30819	broad.mit.edu	37	10	103587992	103587992	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:103587992C>G	ENST00000356640.2	-	7	788	c.513G>C	c.(511-513)gtG>gtC	p.V171V	KCNIP2_ENST00000348850.5_Silent_p.V126V|KCNIP2_ENST00000358038.3_Silent_p.V153V|KCNIP2_ENST00000343195.4_Silent_p.V121V|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000353068.3_Silent_p.V128V|KCNIP2_ENST00000461105.1_Silent_p.V186V|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2-AS1_ENST00000412353.1_RNA	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	171	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CCCGAAGAATCACGGACAAAC	0.542																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(457-459)gtG>gtC		Kv channel interacting protein 2							88.0	84.0	86.0					10																	103587992		2203	4300	6503	SO:0001819	synonymous_variant	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103587992C>G		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.513G>C	10.37:g.103587992C>G						KCNIP2_ENST00000348850.5_Silent_p.V126V|KCNIP2_ENST00000461105.1_Silent_p.V186V|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Silent_p.V171V|KCNIP2_ENST00000353068.3_Silent_p.V128V|KCNIP2_ENST00000343195.4_Silent_p.V121V|KCNIP2_ENST00000370046.1_Intron	p.V153V	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	6	810	-		Colorectal(252;0.122)	171			EF-hand 2.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Silent	SNP	ENST00000356640.2	37	c.459G>C	CCDS7522.1																																																																																				0.542	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			13	88	0	0	0	1	0	13	88				
CFAP46	54777	broad.mit.edu	37	10	134751107	134751107	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:134751107C>T	ENST00000368586.5	-	6	709	c.609G>A	c.(607-609)ccG>ccA	p.P203P	TTC40_ENST00000368582.2_Silent_p.P203P|TTC40_ENST00000368585.3_Silent_p.P203P	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACTTAATGAACGGAGCTGCCG	0.443																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(607-609)ccG>ccA		tetratricopeptide repeat domain 40							80.0	84.0	83.0					10																	134751107		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134751107C>T																												ENST00000368586.5:c.609G>A	10.37:g.134751107C>T						TTC40_ENST00000368585.3_Silent_p.P203P|TTC40_ENST00000368582.2_Silent_p.P203P	p.P203P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			6	709	-			0						Silent	SNP	ENST00000368586.5	37	c.609G>A	CCDS58101.1																																																																																				0.443	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			31	233	0	0	0	1	0	31	233				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	16	0	0	0	1	0	3	16				
JAKMIP1	152789	broad.mit.edu	37	4	6083352	6083352	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:6083352C>T	ENST00000282924.5	-	6	1570	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R362Q	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	362	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACGTTTTCCCGCGTGAGGTT	0.527																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1084-1086)cGg>cAg		janus kinase and microtubule interacting protein 1							179.0	153.0	162.0					4																	6083352		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6083352C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1085G>A	4.37:g.6083352C>T	ENSP00000282924:p.Arg362Gln					JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000457227.2_5'UTR	p.R362Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			6	1534	-			362			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1085G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	6.413	0.444254	0.12164	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.32515	1.88;1.48;1.87;1.87;1.45	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000002	T	0.42177	0.1191	L	0.33792	1.035	0.39650	D	0.97045	D;D;D;D;D	0.89917	0.977;1.0;0.989;0.989;1.0	P;D;P;P;D	0.83275	0.601;0.996;0.738;0.738;0.996	T	0.17776	-1.0358	10	0.14252	T	0.57	.	16.4127	0.83723	0.0:1.0:0.0:0.0	.	197;362;197;362;362	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	Q	362;197;362;362;254;362;362;197	ENSP00000386711:R362Q;ENSP00000387042:R197Q;ENSP00000282924:R362Q;ENSP00000386925:R362Q;ENSP00000386745:R197Q	ENSP00000282924:R362Q	R	-	2	0	JAKMIP1	6134253	0.309000	0.24518	0.797000	0.32132	0.671000	0.39405	2.842000	0.48230	2.189000	0.69895	0.561000	0.74099	CGG		0.527	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		5	85	0	0	0	1	0	5	85				
GRM3	2913	broad.mit.edu	37	7	86468860	86468860	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86468860C>T	ENST00000361669.2	+	4	3129	c.2030C>T	c.(2029-2031)gCt>gTt	p.A677V	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A549V|GRM3_ENST00000546348.1_Missense_Mutation_p.A269V|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	677					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AAGAATGGCGCTCAGAGGCCA	0.547																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2029-2031)gCt>gTt		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						83.0	80.0	81.0					7																	86468860		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468860C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2030C>T	7.37:g.86468860C>T	ENSP00000355316:p.Ala677Val					GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269V|GRM3_ENST00000536043.1_Missense_Mutation_p.A549V	p.A677V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3129	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		677					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2030C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	3.948	-0.012763	0.07727	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87887	-2.31;-2.31;-2.31	5.69	4.8	0.61643	GPCR, family 3, C-terminal (2);	0.093168	0.64402	D	0.000001	T	0.75620	0.3874	N	0.11341	0.13	0.80722	D	1	B;B;B	0.29531	0.247;0.123;0.09	B;B;B	0.33960	0.173;0.108;0.122	T	0.70927	-0.4739	10	0.07325	T	0.83	.	15.7225	0.77724	0.0:0.8629:0.1371:0.0	.	269;549;677	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	677;269;549	ENSP00000355316:A677V;ENSP00000444064:A269V;ENSP00000441407:A549V	ENSP00000355316:A677V	A	+	2	0	GRM3	86306796	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.878000	0.69682	1.382000	0.46385	0.563000	0.77884	GCT		0.547	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			12	96	0	0	0	1	0	12	96				
TTN	7273	broad.mit.edu	37	2	179588290	179588290	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179588290T>C	ENST00000591111.1	-	72	20810	c.20586A>G	c.(20584-20586)aaA>aaG	p.K6862K	TTN_ENST00000342992.6_Silent_p.K5935K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.K7179K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12453	Ig-like 50.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGGTCTCCTTTCACTAGTT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21535-21537)aaA>aaG		titin							76.0	73.0	74.0					2																	179588290		1861	4096	5957	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588290T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20586A>G	2.37:g.179588290T>C						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K5935K|TTN_ENST00000591111.1_Silent_p.K6862K|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron	p.K7179K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	21761	-			6862			Ig-like 53.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.21537A>G																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	35	0	0	0	1	0	15	35				
MLLT4	4301	broad.mit.edu	37	6	168369850	168369850	+	Missense_Mutation	SNP	C	C	T	rs540701101	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:168369850C>T	ENST00000447894.2	+	32	5293	c.5293C>T	c.(5293-5295)Cgg>Tgg	p.R1765W	MLLT4_ENST00000351017.4_Missense_Mutation_p.R1772W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1684W|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1765W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1775W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1765					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGACGCCTGTCGGGATGCAAA	0.468			T	MLL	AL								C|||	4	0.000798722	0.003	0.0	5008	,	,		19561	0.0		0.0	False		,,,				2504	0.0					ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5293-5295)Cgg>Tgg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							105.0	111.0	109.0					6																	168369850		1974	4150	6124	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168369850C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.5293C>T	6.37:g.168369850C>T	ENSP00000404595:p.Arg1765Trp					MLLT4_ENST00000351017.4_Missense_Mutation_p.R1772W|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1765W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1775W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1684W	p.R1765W			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	33	5435	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1765					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.5293C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.476944|1.476944	0.26511|0.26511	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000351017;ENST00000366806;ENST00000392112;ENST00000400822;ENST00000447894|ENST00000485634;ENST00000515794	T;T;T;T;T|.	0.07800|.	3.45;3.55;3.16;3.46;3.45|.	4.81|4.81	0.0806|0.0806	0.14421|0.14421	.|.	0.488965|.	0.19568|.	N|.	0.111154|.	T|T	0.28067|0.28067	0.0692|0.0692	M|M	0.73962|0.73962	2.25|2.25	0.09310|0.09310	N|N	1|1	B|.	0.17268|.	0.021|.	B|.	0.09377|.	0.004|.	T|T	0.29731|0.29731	-1.0002|-1.0002	10|5	0.87932|.	D|.	0|.	-3.9144|-3.9144	5.5199|5.5199	0.16927|0.16927	0.2143:0.5323:0.0:0.2534|0.2143:0.5323:0.0:0.2534	.|.	1775|.	P55196-5|.	.|.	W|L	1772;1765;1684;1775;1765|131;64	ENSP00000252692:R1772W;ENSP00000355771:R1765W;ENSP00000375960:R1684W;ENSP00000383623:R1775W;ENSP00000404595:R1765W|.	ENSP00000252692:R1772W|.	R|S	+|+	1|2	2|0	MLLT4|MLLT4	168112699|168112699	0.022000|0.022000	0.18835|0.18835	0.009000|0.009000	0.14445|0.14445	0.001000|0.001000	0.01503|0.01503	0.260000|0.260000	0.18424|0.18424	0.079000|0.079000	0.16929|0.16929	-0.345000|-0.345000	0.07892|0.07892	CGG|TCG		0.468	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		4	55	0	0	0	1	0	4	55				
LRRCC1	85444	broad.mit.edu	37	8	86037123	86037123	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:86037123G>C	ENST00000360375.3	+	8	1370	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N	LRRCC1_ENST00000414626.2_Missense_Mutation_p.K387N	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	407					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAAGCCAAAGACTGAAATAA	0.299																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1159-1161)aaG>aaC		leucine rich repeat and coiled-coil centrosomal protein 1							76.0	75.0	75.0					8																	86037123		1807	4064	5871	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86037123G>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1221G>C	8.37:g.86037123G>C	ENSP00000353538:p.Lys407Asn					LRRCC1_ENST00000360375.3_Missense_Mutation_p.K407N	p.K387N			Q9C099	LRCC1_HUMAN			7	2050	+			407					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1161G>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607036	0.28623	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.35421	1.31;1.31	4.63	3.76	0.43208	.	0.168884	0.28470	N	0.015236	T	0.36220	0.0959	M	0.64997	1.995	0.37459	D	0.915136	P;B;P;P	0.46142	0.873;0.138;0.873;0.698	P;B;P;B	0.44359	0.447;0.05;0.447;0.192	T	0.33599	-0.9862	10	0.30078	T	0.28	-10.6882	9.0225	0.36209	0.0984:0.0:0.9016:0.0	.	314;387;314;407	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	N	407;387	ENSP00000353538:K407N;ENSP00000394695:K387N	ENSP00000353538:K407N	K	+	3	2	LRRCC1	86224375	0.033000	0.19621	0.625000	0.29200	0.945000	0.59286	0.232000	0.17891	1.561000	0.49584	0.655000	0.94253	AAG		0.299	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		18	290	0	0	0	1	0	18	290				
TTLL8	164714	broad.mit.edu	37	22	50479651	50479651	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:50479651T>C	ENST00000266182.6	-	8	885	c.886A>G	c.(886-888)Atg>Gtg	p.M296V	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	323	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCAAATGACATCATAACCTTC	0.552																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(886-888)Atg>Gtg		tubulin tyrosine ligase-like family, member 8							138.0	153.0	148.0					22																	50479651		1968	4147	6115	SO:0001583	missense	164714							g.chr22:50479651T>C			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.886A>G	22.37:g.50479651T>C	ENSP00000266182:p.Met296Val					TTLL8_ENST00000440475.1_Intron	p.M296V						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	8	885	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.886A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988420	0.02162	.	.	ENSG00000138892	ENST00000266182	T	0.04049	3.72	2.0	-0.309	0.12769	.	1.996170	0.03552	N	0.225676	T	0.02970	0.0088	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43228	-0.9404	9	0.16896	T	0.51	.	4.3895	0.11334	0.0:0.4067:0.0:0.5933	.	296	B5MDV0	.	V	296	ENSP00000266182:M296V	ENSP00000266182:M296V	M	-	1	0	TTLL8	48821778	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.774000	0.04684	-0.136000	0.11475	-0.532000	0.04303	ATG		0.552	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		40	126	0	0	0	1	0	40	126				
ZNF813	126017	broad.mit.edu	37	19	53994186	53994186	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53994186C>G	ENST00000396403.4	+	4	828	c.700C>G	c.(700-702)Caa>Gaa	p.Q234E	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	234					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)		AAGGAAACATCAAATAATCCA	0.383																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(700-702)Caa>Gaa		zinc finger protein 813							70.0	74.0	72.0					19																	53994186		2199	4298	6497	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994186C>G	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.700C>G	19.37:g.53994186C>G	ENSP00000379684:p.Gln234Glu					ZNF813_ENST00000396421.4_Intron	p.Q234E	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	828	+			234						Missense_Mutation	SNP	ENST00000396403.4	37	c.700C>G	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778775	0.31502	.	.	ENSG00000198346	ENST00000396403	T	0.17854	2.25	1.33	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	L	0.35288	1.05	0.80722	D	1	P	0.44429	0.835	B	0.38156	0.266	T	0.08953	-1.0697	9	0.62326	D	0.03	.	9.1617	0.37028	0.0:1.0:0.0:0.0	.	234	Q6ZN06	ZN813_HUMAN	E	234	ENSP00000379684:Q234E	ENSP00000379684:Q234E	Q	+	1	0	ZNF813	58685998	0.000000	0.05858	0.046000	0.18839	0.115000	0.19883	-1.417000	0.02464	0.466000	0.27193	0.205000	0.17691	CAA		0.383	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		14	150	0	0	0	1	0	14	150				
CEP57	9702	broad.mit.edu	37	11	95546634	95546634	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:95546634C>A	ENST00000325542.5	+	4	623	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	CEP57_ENST00000325486.5_Missense_Mutation_p.L129M|CEP57_ENST00000537677.1_Missense_Mutation_p.L102M|CEP57_ENST00000541150.1_Missense_Mutation_p.L120M|CEP57_ENST00000538658.1_Missense_Mutation_p.L129M|CEP57_ENST00000536587.1_3'UTR	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	129	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTTTTAGAACTGACATCTCA	0.313									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(385-387)Ctg>Atg		centrosomal protein 57kDa							63.0	58.0	60.0					11																	95546634		2201	4297	6498	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95546634C>A	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.385C>A	11.37:g.95546634C>A	ENSP00000317902:p.Leu129Met					CEP57_ENST00000537677.1_Missense_Mutation_p.L102M|CEP57_ENST00000538658.1_Missense_Mutation_p.L129M|CEP57_ENST00000541150.1_Missense_Mutation_p.L120M|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.L129M	p.L129M	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			4	623	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	129			centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.385C>A	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867081	0.51588	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;D;T;T	0.88354	0.68;0.68;0.68;0.68;-2.37;0.68;0.68	5.92	3.09	0.35607	.	0.000000	0.56097	D	0.000024	D	0.90854	0.7127	L	0.43152	1.355	0.38867	D	0.956608	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.91635	0.999;0.94;0.999;0.999	D	0.90257	0.4298	10	0.87932	D	0	-5.8067	9.944	0.41598	0.0:0.7315:0.0:0.2685	.	120;129;129;129	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	M	102;129;129;120;102;129;120	ENSP00000441392:L102M;ENSP00000317902:L129M;ENSP00000317487:L129M;ENSP00000438065:L120M;ENSP00000445821:L102M;ENSP00000445706:L129M;ENSP00000443436:L120M	ENSP00000317487:L129M	L	+	1	2	CEP57	95186282	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	1.242000	0.32755	0.427000	0.26145	-0.229000	0.12294	CTG		0.313	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		11	29	1	0	2.27111e-07	1	2.45974e-07	11	29				
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:46094344C>G	ENST00000323040.4	-	2	1725	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			3	Substitution - Nonsense(3)	p.E261*(3)	lung(3)	breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(781-783)Gag>Cag		G protein-coupled receptor 4							36.0	40.0	39.0					19																	46094344		2202	4300	6502	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094344C>G	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.781G>C	19.37:g.46094344C>G	ENSP00000319744:p.Glu261Gln					OPA3_ENST00000544371.1_Intron	p.E261Q	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1725	-			261					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.781G>C	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737848	0.49045	.	.	ENSG00000177464	ENST00000323040	T	0.72394	-0.65	4.74	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.73651	0.3614	L	0.42744	1.35	0.39976	D	0.974855	D	0.76494	0.999	D	0.69307	0.963	T	0.69569	-0.5110	10	0.16420	T	0.52	.	10.5207	0.44918	0.0:0.905:0.0:0.095	.	261	P46093	GPR4_HUMAN	Q	261	ENSP00000319744:E261Q	ENSP00000319744:E261Q	E	-	1	0	GPR4	50786184	0.989000	0.36119	1.000000	0.80357	0.900000	0.52787	2.832000	0.48152	1.226000	0.43582	0.455000	0.32223	GAG		0.637	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		5	97	0	0	0	1	0	5	97				
MAP3K5	4217	broad.mit.edu	37	6	136913455	136913455	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:136913455A>G	ENST00000359015.4	-	23	3441	c.3081T>C	c.(3079-3081)gaT>gaC	p.D1027D	MAP3K5_ENST00000355845.4_Silent_p.D274D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1027					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGCACTGTGATCTTCAAAAT	0.438																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3079-3081)gaT>gaC		mitogen-activated protein kinase kinase kinase 5							123.0	122.0	122.0					6																	136913455		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913455A>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3081T>C	6.37:g.136913455A>G						MAP3K5_ENST00000355845.4_Silent_p.D274D	p.D1027D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	23	3441	-	Colorectal(23;0.24)		1027					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3081T>C	CCDS5179.1																																																																																				0.438	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			28	259	0	0	0	1	0	28	259				
PDE4DIP	9659	broad.mit.edu	37	1	144879044	144879044	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:144879044G>A	ENST00000369354.3	-	27	4595	c.4406C>T	c.(4405-4407)tCg>tTg	p.S1469L	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1605L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1605L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1425L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1469					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCAGGCCACGAGGCTGATCT	0.507			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4813-4815)tCg>tTg		phosphodiesterase 4D interacting protein							160.0	174.0	170.0					1																	144879044		2202	4299	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879044G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4406C>T	1.37:g.144879044G>A	ENSP00000358360:p.Ser1469Leu					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1605L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1425L	p.S1605L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4852	-			1469			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4814C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835594	0.50951	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01887	4.58;4.67;4.67;4.69;4.68	5.97	5.97	0.96955	.	.	.	.	.	T	0.01695	0.0054	L	0.51422	1.61	0.80722	D	1	P;D	0.54397	0.901;0.966	B;B	0.37601	0.254;0.222	T	0.60546	-0.7242	9	0.62326	D	0.03	.	17.9074	0.88923	0.0:0.0:1.0:0.0	.	1425;1469	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	L	1425;1469;1469;1605;1605	ENSP00000327209:S1425L;ENSP00000358360:S1469L;ENSP00000358363:S1469L;ENSP00000435654:S1605L;ENSP00000358366:S1605L	ENSP00000327209:S1425L	S	-	2	0	PDE4DIP	143590401	0.838000	0.29461	0.433000	0.26760	0.117000	0.20001	4.306000	0.59117	2.835000	0.97688	0.591000	0.81541	TCG		0.507	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		13	286	0	0	0	1	0	13	286				
LRRC37A11P	342666	broad.mit.edu	37	17	37187894	37187894	+	RNA	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:37187894T>C	ENST00000425901.2	+	0	1736					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GGAACTTACCTTAACTCCAGA	0.488																																						ENST00000425901.2																			0																																																			342666							g.chr17:37187894T>C			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187894T>C								NR_033753.2						0	1736	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.488	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		10	87	0	0	0	1	0	10	87				
RGS3	5998	broad.mit.edu	37	9	116357928	116357928	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:116357928G>C	ENST00000374140.2	+	25	3503	c.3294G>C	c.(3292-3294)gaG>gaC	p.E1098D	RGS3_ENST00000394646.3_Missense_Mutation_p.E491D|RGS3_ENST00000342620.5_Missense_Mutation_p.E68D|RGS3_ENST00000462403.1_Missense_Mutation_p.E211D|RGS3_ENST00000462143.1_Missense_Mutation_p.E419D|RGS3_ENST00000374134.3_Missense_Mutation_p.E419D|RGS3_ENST00000350696.5_Missense_Mutation_p.E1098D|RGS3_ENST00000343817.5_Missense_Mutation_p.E817D	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1098	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCAGTGAGGAGAATCTGGAGT	0.517																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3292-3294)gaG>gaC		regulator of G-protein signaling 3							221.0	171.0	188.0					9																	116357928		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116357928G>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3294G>C	9.37:g.116357928G>C	ENSP00000363255:p.Glu1098Asp					RGS3_ENST00000350696.5_Missense_Mutation_p.E1098D|RGS3_ENST00000343817.5_Missense_Mutation_p.E817D|RGS3_ENST00000374134.3_Missense_Mutation_p.E419D|RGS3_ENST00000462143.1_Missense_Mutation_p.E419D|RGS3_ENST00000394646.3_Missense_Mutation_p.E491D|RGS3_ENST00000462403.1_Missense_Mutation_p.E211D|RGS3_ENST00000342620.5_Missense_Mutation_p.E68D	p.E1098D	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			25	3503	+			1098			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3294G>C	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364432	0.82463	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.37	4.47	0.54385	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.64402	D	0.000001	T	0.65004	0.2650	M	0.89478	3.035	0.50467	D	0.99987	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	0.994;1.0;0.996;0.996;0.998;0.998	T	0.72381	-0.4311	10	0.87932	D	0	.	13.1494	0.59480	0.0769:0.0:0.9231:0.0	.	491;211;994;817;988;1098	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	D	1098;1098;817;491;266;419;68;419;211	ENSP00000363255:E1098D;ENSP00000259406:E1098D;ENSP00000340284:E817D;ENSP00000378141:E491D;ENSP00000420356:E419D;ENSP00000343359:E68D;ENSP00000363249:E419D;ENSP00000436168:E211D	ENSP00000343359:E68D	E	+	3	2	RGS3	115397749	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.745000	0.68672	1.265000	0.44215	0.456000	0.33151	GAG		0.517	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		6	130	0	0	0	1	0	6	130				
PHLPP2	23035	broad.mit.edu	37	16	71710535	71710535	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:71710535G>A	ENST00000568954.1	-	9	1664	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	PHLPP2_ENST00000567016.1_Missense_Mutation_p.T464I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T429I|PHLPP2_ENST00000393524.2_Missense_Mutation_p.T429I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T429I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	429					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATAACCATGGTTTTCAAATG	0.368																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1285-1287)aCc>aTc		PH domain and leucine rich repeat protein phosphatase 2							119.0	109.0	113.0					16																	71710535		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71710535G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1286C>T	16.37:g.71710535G>A	ENSP00000457991:p.Thr429Ile					PHLPP2_ENST00000568954.1_Missense_Mutation_p.T429I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T429I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T464I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T429I	p.T429I			Q6ZVD8	PHLP2_HUMAN			8	2019	-			429					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1286C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986519	0.35036	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.33654	1.82;1.4;1.82	5.39	4.41	0.53225	.	0.225497	0.47093	D	0.000244	T	0.33498	0.0865	L	0.55481	1.735	0.36851	D	0.887884	B;B	0.32071	0.355;0.201	B;B	0.35353	0.201;0.073	T	0.43766	-0.9371	10	0.66056	D	0.02	-13.1757	7.8941	0.29695	0.0:0.269:0.5949:0.1361	.	429;429	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	I	236;429;429;429	ENSP00000353610:T429I;ENSP00000348611:T429I;ENSP00000377159:T429I	ENSP00000299971:T236I	T	-	2	0	PHLPP2	70268036	0.999000	0.42202	0.952000	0.39060	0.896000	0.52359	3.513000	0.53414	2.520000	0.84964	0.591000	0.81541	ACC		0.368	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		17	81	0	0	0	1	0	17	81				
PCDHA11	56138	broad.mit.edu	37	5	140249438	140249438	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140249438C>A	ENST00000398640.2	+	1	750	c.750C>A	c.(748-750)agC>agA	p.S250R	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGGTGAGCCTTATGGAAA	0.438																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(748-750)agC>agA									29.0	28.0	29.0					5																	140249438		1896	4127	6023	SO:0001583	missense	56138							g.chr5:140249438C>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.750C>A	5.37:g.140249438C>A	ENSP00000381636:p.Ser250Arg					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron	p.S250R	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	750	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.750C>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.035097	0.00040	.	.	ENSG00000249158	ENST00000398640	T	0.54866	0.55	5.71	-3.77	0.04346	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23572	0.0570	N	0.15975	0.35	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.004	T	0.27536	-1.0071	9	0.06891	T	0.86	.	2.3992	0.04397	0.3047:0.1275:0.373:0.1948	.	250;250	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	R	250	ENSP00000381636:S250R	ENSP00000381636:S250R	S	+	3	2	PCDHA11	140229622	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-2.519000	0.00952	-0.745000	0.04772	-1.268000	0.01426	AGC		0.438	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		6	15	1	0	0.00116845	1	0.00120542	6	15				
HAUS2	55142	broad.mit.edu	37	15	42851582	42851582	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:42851582G>A	ENST00000260372.3	+	3	295	c.232G>A	c.(232-234)Gat>Aat	p.D78N	HAUS2_ENST00000568876.1_Missense_Mutation_p.D47N|HAUS2_ENST00000568846.2_Missense_Mutation_p.D47N	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	78					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						AGATACAGCAGATGTTGTTCA	0.368																																						ENST00000260372.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(232-234)Gat>Aat		HAUS augmin-like complex, subunit 2							119.0	118.0	118.0					15																	42851582		2203	4299	6502	SO:0001583	missense	55142				cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle		g.chr15:42851582G>A	AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.232G>A	15.37:g.42851582G>A	ENSP00000260372:p.Asp78Asn					HAUS2_ENST00000568846.2_Missense_Mutation_p.D47N|HAUS2_ENST00000568876.1_Missense_Mutation_p.D47N	p.D78N	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN			3	295	+			78					C9JH36|Q9H9B3	Missense_Mutation	SNP	ENST00000260372.3	37	c.232G>A	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401829	0.96030	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T;T	0.51574	0.7;0.7	6.03	6.03	0.97812	.	0.098796	0.64402	D	0.000003	T	0.72269	0.3439	M	0.78049	2.395	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73338	-0.4014	10	0.87932	D	0	-7.7768	20.1547	0.98103	0.0:0.0:1.0:0.0	.	47;78	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	N	78;47	ENSP00000260372:D78N;ENSP00000390445:D47N	ENSP00000260372:D78N	D	+	1	0	HAUS2	40638874	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.309000	0.72825	2.868000	0.98415	0.555000	0.69702	GAT		0.368	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	NM_018097		11	64	0	0	0	1	0	11	64				
TRIM45	80263	broad.mit.edu	37	1	117661121	117661121	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117661121C>T	ENST00000256649.4	-	2	1283	c.757G>A	c.(757-759)Gag>Aag	p.E253K	TRIM45_ENST00000369464.3_Missense_Mutation_p.E253K|TRIM45_ENST00000369461.3_Missense_Mutation_p.E196K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	253					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567																																						ENST00000256649.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(757-759)Gag>Aag		tripartite motif containing 45							59.0	60.0	60.0					1																	117661121		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117661121C>T		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.757G>A	1.37:g.117661121C>T	ENSP00000256649:p.Glu253Lys					TRIM45_ENST00000369461.3_Missense_Mutation_p.E196K|TRIM45_ENST00000369464.3_Missense_Mutation_p.E253K	p.E253K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1283	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	253					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.757G>A	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159050	0.38119	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.86366	-2.11;-2.11;-2.11	5.32	4.4	0.53042	.	0.154140	0.56097	D	0.000021	T	0.79799	0.4508	L	0.50333	1.59	0.54753	D	0.999988	P;P	0.46859	0.885;0.816	P;B	0.45449	0.481;0.288	T	0.78244	-0.2279	10	0.22706	T	0.39	-26.376	15.2681	0.73678	0.0:0.8595:0.1405:0.0	.	253;253	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	K	253;253;196	ENSP00000256649:E253K;ENSP00000358476:E253K;ENSP00000358473:E196K	ENSP00000256649:E253K	E	-	1	0	TRIM45	117462644	1.000000	0.71417	0.997000	0.53966	0.485000	0.33311	3.413000	0.52686	1.466000	0.48025	0.655000	0.94253	GAG		0.567	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		9	57	0	0	0	1	0	9	57				
PROS1	5627	broad.mit.edu	37	3	93646165	93646165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:93646165C>A	ENST00000394236.3	-	2	479	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	55	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CATTCTCTTTCAAGATTACCC	0.403																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(163-165)Gaa>Taa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						104.0	100.0	102.0					3																	93646165		2203	4300	6503	SO:0001587	stop_gained	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646165C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.163G>T	3.37:g.93646165C>A	ENSP00000377783:p.Glu55*					PROS1_ENST00000407433.1_5'UTR	p.E55*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	479	-			55			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	c.163G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	39	7.326319	0.98214	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	.	.	.	4.53	4.53	0.55603	.	0.060041	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4197	0.87511	0.0:1.0:0.0:0.0	.	.	.	.	X	55;87	.	ENSP00000330021:E87X	E	-	1	0	PROS1	95128855	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.004000	0.76317	2.513000	0.84729	0.448000	0.29417	GAA		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		18	185	1	0	3.51602e-12	1	3.89871e-12	18	185				
ZNF462	58499	broad.mit.edu	37	9	109685854	109685854	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:109685854G>T	ENST00000277225.5	+	2	479	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.D64Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.D64Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	64					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCTATAAAGGATGAATTTGC	0.418																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(190-192)Gat>Tat		zinc finger protein 462							125.0	121.0	123.0					9																	109685854		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109685854G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.190G>T	9.37:g.109685854G>T	ENSP00000277225:p.Asp64Tyr					RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.D64Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.D64Y	p.D64Y			Q96JM2	ZN462_HUMAN			2	479	+			64					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.190G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036572	0.54896	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.09817	2.94;3.41	6.17	6.17	0.99709	.	0.098474	0.64402	D	0.000001	T	0.25419	0.0618	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00595	-1.1653	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	64	Q96JM2	ZN462_HUMAN	Y	64	ENSP00000277225:D64Y;ENSP00000414570:D64Y	ENSP00000277225:D64Y	D	+	1	0	ZNF462	108725675	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.547000	0.82146	2.941000	0.99782	0.655000	0.94253	GAT		0.418	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		11	129	1	0	0.00010058	1	0.000104424	11	129				
OR7A17	26333	broad.mit.edu	37	19	14991960	14991960	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:14991960C>G	ENST00000327462.2	-	1	304	c.208G>C	c.(208-210)Gac>Cac	p.D70H		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAACAGATGTCTGCAAAGGAC	0.507																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(208-210)Gac>Cac		olfactory receptor, family 7, subfamily A, member 17							105.0	90.0	95.0					19																	14991960		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991960C>G	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.208G>C	19.37:g.14991960C>G	ENSP00000328144:p.Asp70His						p.D70H	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	304	-	Ovarian(108;0.203)		70					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.208G>C	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	c	16.54	3.152654	0.57259	.	.	ENSG00000185385	ENST00000327462	T	0.01185	5.21	2.74	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001512	T	0.12902	0.0313	H	0.99732	4.735	0.36523	D	0.870294	D	0.58970	0.984	P	0.62089	0.898	T	0.41963	-0.9479	10	0.87932	D	0	.	11.8049	0.52150	0.0:1.0:0.0:0.0	.	70	O14581	OR7AH_HUMAN	H	70	ENSP00000328144:D70H	ENSP00000328144:D70H	D	-	1	0	OR7A17	14852960	0.976000	0.34144	0.802000	0.32245	0.653000	0.38743	3.007000	0.49536	1.886000	0.54624	0.395000	0.25975	GAC		0.507	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		7	88	0	0	0	1	0	7	88				
KIF16B	55614	broad.mit.edu	37	20	16359523	16359523	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:16359523C>T	ENST00000354981.2	-	19	3281	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S	KIF16B_ENST00000378003.2_Missense_Mutation_p.G268S|KIF16B_ENST00000408042.1_Missense_Mutation_p.G1042S|KIF16B_ENST00000355755.3_Missense_Mutation_p.G1042S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1042	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTCTGCTGCCACTGTTCAGA	0.602																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3124-3126)Ggc>Agc		kinesin family member 16B							93.0	92.0	93.0					20																	16359523		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359523C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3124G>A	20.37:g.16359523C>T	ENSP00000347076:p.Gly1042Ser					KIF16B_ENST00000378003.2_Missense_Mutation_p.G268S|KIF16B_ENST00000355755.3_Missense_Mutation_p.G1042S|KIF16B_ENST00000408042.1_Missense_Mutation_p.G1042S	p.G1042S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3281	-			1042			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3124G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.770982	0.00645	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.68479	-0.33;-0.3;2.71;-0.22	5.29	1.76	0.24704	.	0.622573	0.18265	N	0.146502	T	0.30727	0.0774	N	0.01352	-0.895	0.09310	N	0.999995	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.26121	-1.0112	10	0.09338	T	0.73	.	8.3387	0.32230	0.0:0.2461:0.0:0.7539	.	1042;1042;1042;1042	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	1042;1042;886;268;1042	ENSP00000347076:G1042S;ENSP00000347995:G1042S;ENSP00000367242:G268S;ENSP00000384164:G1042S	ENSP00000347076:G1042S	G	-	1	0	KIF16B	16307523	0.708000	0.27876	0.004000	0.12327	0.025000	0.11179	1.006000	0.29847	0.100000	0.17581	-0.323000	0.08544	GGC		0.602	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		8	200	0	0	0	1	0	8	200				
L3MBTL1	26013	broad.mit.edu	37	20	42164481	42164481	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:42164481C>T	ENST00000427442.2	+	17	1923	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	L3MBTL1_ENST00000373134.1_Silent_p.P520P|L3MBTL1_ENST00000418998.1_Silent_p.P588P|L3MBTL1_ENST00000444063.1_Silent_p.P520P|L3MBTL1_ENST00000373135.3_Silent_p.P520P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	520					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTTTAGGACCCAGAGAGCCCA	0.612																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1558-1560)ccC>ccT		l(3)mbt-like 1 (Drosophila)							84.0	82.0	82.0					20																	42164481		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42164481C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1764C>T	20.37:g.42164481C>T						L3MBTL1_ENST00000418998.1_Silent_p.P588P|L3MBTL1_ENST00000427442.2_Silent_p.P588P|L3MBTL1_ENST00000373135.3_Silent_p.P520P|L3MBTL1_ENST00000373134.1_Silent_p.P520P	p.P520P			Q9Y468	LMBL1_HUMAN			14	1692	+			520					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1560C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	7.287	0.610290	0.14066	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.76	1.72	0.24424	.	0.389898	0.29152	N	0.012999	T	0.44850	0.1313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21109	-1.0255	6	0.32370	T	0.25	.	2.8467	0.05546	0.1276:0.5375:0.1237:0.2112	.	.	.	.	L	211	.	ENSP00000412938:P211L	P	+	2	0	L3MBTL1	41597895	0.909000	0.30893	0.991000	0.47740	0.628000	0.37860	0.125000	0.15749	0.099000	0.17552	-0.142000	0.14014	CCA		0.612	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		6	91	0	0	0	1	0	6	91				
TTN	7273	broad.mit.edu	37	2	179510677	179510677	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179510677C>A	ENST00000591111.1	-	167	35679	c.35455G>T	c.(35455-35457)Gat>Tat	p.D11819Y	TTN_ENST00000342992.6_Missense_Mutation_p.D10892Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D13460Y|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11819	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCACATCTTCCTTAGGT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(40378-40380)Gat>Tat		titin							105.0	97.0	99.0					2																	179510677		1830	4079	5909	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179510677C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35455G>T	2.37:g.179510677C>A	ENSP00000465570:p.Asp11819Tyr					TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D10892Y|TTN_ENST00000591111.1_Missense_Mutation_p.D11819Y|TTN_ENST00000460472.2_Intron	p.D13460Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		217	40602	-			11819			Ig-like 90.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.40378G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.478842|2.478842	0.44044|0.44044	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777|ENST00000426232	T|.	0.70282|.	-0.47|.	5.39|5.39	4.48|4.48	0.54585|0.54585	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.54303|0.54303	0.1850|0.1850	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;D|.	0.71674|.	0.651;0.998|.	B;P|.	0.60789|.	0.259;0.879|.	T|T	0.49447|0.49447	-0.8939|-0.8939	9|5	0.87932|.	D|.	0|.	.|.	14.528|14.528	0.67902|0.67902	0.0:0.8545:0.1455:0.0|0.0:0.8545:0.1455:0.0	.|.	11819;299|.	Q8WZ42;A2TKE4|.	TITIN_HUMAN;.|.	Y|I	10892;299;299;119|166	ENSP00000343764:D10892Y|.	ENSP00000343764:D10892Y|.	D|R	-|-	1|2	0|0	TTN|TTN	179218922|179218922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	2.867000|2.867000	0.48428|0.48428	2.512000|2.512000	0.84698|0.84698	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	11	1	0	0.014758	1	0.0148951	3	11				
LRRIQ4	344657	broad.mit.edu	37	3	169540093	169540093	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:169540093C>T	ENST00000340806.6	+	1	384	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	128										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTACCAGACCGACCTGAAGG	0.567																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(382-384)acC>acT		leucine-rich repeats and IQ motif containing 4							55.0	60.0	58.0					3																	169540093		2061	4206	6267	SO:0001819	synonymous_variant	344657							g.chr3:169540093C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.384C>T	3.37:g.169540093C>T							p.T128T	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	384	+			128						Silent	SNP	ENST00000340806.6	37	c.384C>T	CCDS46951.1																																																																																				0.567	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		13	120	0	0	0	1	0	13	120				
CRMP1	1400	broad.mit.edu	37	4	5868411	5868411	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:5868411C>T	ENST00000397890.2	-	2	326	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CRMP1_ENST00000324989.7_Missense_Mutation_p.E152K|CRMP1_ENST00000512574.1_Missense_Mutation_p.E36K|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	38					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGTCCATCCTCCAGGTAGACG	0.483																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(454-456)Gag>Aag		collapsin response mediator protein 1							160.0	139.0	146.0					4																	5868411		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5868411C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.112G>A	4.37:g.5868411C>T	ENSP00000380987:p.Glu38Lys					CRMP1_ENST00000512574.1_Missense_Mutation_p.E36K|CRMP1_ENST00000397890.2_Missense_Mutation_p.E38K|CRMP1_ENST00000511535.1_5'UTR	p.E152K	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	2	542	-			38					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.454G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885119	0.91814	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.86562	-2.14;-2.07;-2.07	3.96	3.96	0.45880	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.62723	1.935	0.80722	D	1	P;D;P	0.61080	0.943;0.989;0.936	P;P;B	0.59761	0.863;0.647;0.41	D	0.91784	0.5438	10	0.62326	D	0.03	-29.7499	15.1869	0.73009	0.0:1.0:0.0:0.0	.	152;36;38	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	K	152;38;38;36	ENSP00000321606:E152K;ENSP00000380987:E38K;ENSP00000425742:E36K	ENSP00000321606:E152K	E	-	1	0	CRMP1	5919312	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.199000	0.77831	2.041000	0.60428	0.563000	0.77884	GAG		0.483	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		19	105	0	0	0	1	0	19	105				
KIAA1324L	222223	broad.mit.edu	37	7	86537765	86537765	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86537765A>G	ENST00000450689.2	-	17	2639	c.2454T>C	c.(2452-2454)taT>taC	p.Y818Y	KIAA1324L_ENST00000416314.1_Silent_p.Y651Y|KIAA1324L_ENST00000297222.6_Silent_p.Y578Y|KIAA1324L_ENST00000444627.1_Silent_p.Y747Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	818						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCACTTACTTATAAAAGAAAT	0.294																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2452-2454)taT>taC		KIAA1324-like							101.0	106.0	105.0					7																	86537765		2202	4296	6498	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86537765A>G	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2454T>C	7.37:g.86537765A>G						KIAA1324L_ENST00000444627.1_Silent_p.Y747Y|KIAA1324L_ENST00000297222.6_Silent_p.Y578Y|KIAA1324L_ENST00000416314.1_Silent_p.Y651Y	p.Y818Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			17	2639	-	Esophageal squamous(14;0.0058)		818					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.2454T>C	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744573	0.30865	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.8	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0542	0.19802	0.7222:0.0:0.2778:0.0	.	.	.	.	Q	779	.	.	X	-	1	0	KIAA1324L	86375701	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.897000	0.39799	1.027000	0.39758	0.533000	0.62120	TAA		0.294	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		18	99	0	0	0	1	0	18	99				
SPIDR	23514	broad.mit.edu	37	8	48353027	48353027	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:48353027G>C	ENST00000297423.4	+	8	1404	c.1020G>C	c.(1018-1020)ctG>ctC	p.L340L	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.L270L|SPIDR_ENST00000518074.1_Silent_p.L280L	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	340	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											GAGCTGGCCTGAAAGTTCTCT	0.577																																						ENST00000297423.4																			0											c.(1018-1020)ctG>ctC		scaffolding protein involved in DNA repair							51.0	53.0	53.0					8																	48353027		1955	4145	6100	SO:0001819	synonymous_variant	23514							g.chr8:48353027G>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1020G>C	8.37:g.48353027G>C						SPIDR_ENST00000518074.1_Silent_p.L280L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.L270L	p.L340L	NM_001080394.2	NP_001073863.1					8	1404	+								B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.1020G>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	G	0.849	-0.739251	0.03088	.	.	ENSG00000164808	ENST00000519401	.	.	.	5.45	0.142	0.14816	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0137	0.14326	0.1479:0.3947:0.3636:0.0938	.	.	.	.	S	22	.	.	X	+	2	2	KIAA0146	48515580	0.984000	0.35163	0.692000	0.30179	0.126000	0.20510	0.000000	0.12993	0.010000	0.14839	-0.175000	0.13238	TGA		0.577	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		4	106	0	0	0	1	0	4	106				
UPF1	5976	broad.mit.edu	37	19	18965503	18965503	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:18965503C>T	ENST00000599848.1	+	9	1492	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	UPF1_ENST00000262803.5_Missense_Mutation_p.S417L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	428					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGTGGAAGTCGACCTCCTTT	0.567																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1249-1251)tCg>tTg		UPF1 regulator of nonsense transcripts homolog (yeast)							164.0	147.0	153.0					19																	18965503		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18965503C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1283C>T	19.37:g.18965503C>T	ENSP00000470142:p.Ser428Leu					UPF1_ENST00000599848.1_Missense_Mutation_p.S428L	p.S417L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			9	1522	+			428					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1250C>T		.	.	.	.	.	.	.	.	.	.	C	27.7	4.854467	0.91355	.	.	ENSG00000005007	ENST00000262803	D	0.90504	-2.68	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.85630	2.765	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60609	0.756;0.877	D	0.95812	0.8842	10	0.72032	D	0.01	-19.1603	17.2984	0.87175	0.0:1.0:0.0:0.0	.	428;417	Q92900;Q92900-2	RENT1_HUMAN;.	L	417	ENSP00000262803:S417L	ENSP00000262803:S417L	S	+	2	0	UPF1	18826503	1.000000	0.71417	0.966000	0.40874	0.886000	0.51366	7.475000	0.81041	2.342000	0.79632	0.655000	0.94253	TCG		0.567	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		12	146	0	0	0	1	0	12	146				
VPS13B	157680	broad.mit.edu	37	8	100673707	100673707	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:100673707C>G	ENST00000358544.2	+	35	6220	c.6109C>G	c.(6109-6111)Ctg>Gtg	p.L2037V	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2012V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2037					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAAGACTTTCTGAATGGACC	0.338																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(6109-6111)Ctg>Gtg		vacuolar protein sorting 13 homolog B (yeast)							62.0	60.0	61.0					8																	100673707		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100673707C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6109C>G	8.37:g.100673707C>G	ENSP00000351346:p.Leu2037Val					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2012V	p.L2037V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		35	6220	+	Breast(36;3.73e-07)		2037					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6109C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858663	0.71834	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73047	-0.71;-0.71	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.82788	0.5113	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.79862	-0.1624	10	0.33940	T	0.23	.	19.6568	0.95845	0.0:1.0:0.0:0.0	.	2012;2037	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	2012;2037	ENSP00000349685:L2012V;ENSP00000351346:L2037V	ENSP00000349685:L2012V	L	+	1	2	VPS13B	100742883	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.344000	0.65981	2.656000	0.90262	0.650000	0.86243	CTG		0.338	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	65	0	0	0	1	0	8	65				
TTC39C	125488	broad.mit.edu	37	18	21660589	21660589	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:21660589G>A	ENST00000317571.3	+	5	737	c.501G>A	c.(499-501)aaG>aaA	p.K167K	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Silent_p.K106K	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	167										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGCCTGGAAGATTTACAATA	0.358																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(499-501)aaG>aaA		tetratricopeptide repeat domain 39C							76.0	76.0	76.0					18																	21660589		2203	4300	6503	SO:0001819	synonymous_variant	125488						binding	g.chr18:21660589G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.501G>A	18.37:g.21660589G>A						TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Silent_p.K106K|RP11-403A21.3_ENST00000578443.1_RNA	p.K167K	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			5	737	+			167					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Silent	SNP	ENST00000317571.3	37	c.501G>A	CCDS45839.1																																																																																				0.358	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	99	0	0	0	1	0	12	99				
FMNL2	114793	broad.mit.edu	37	2	153475432	153475432	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:153475432C>G	ENST00000288670.9	+	14	1754	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	463	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAGCAATTCAAAGACAGTC	0.373																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1387-1389)Caa>Gaa		formin-like 2							51.0	49.0	50.0					2																	153475432		1843	4082	5925	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153475432C>G	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1387C>G	2.37:g.153475432C>G	ENSP00000288670:p.Gln463Glu						p.Q463E	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			14	1754	+			463			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1387C>G	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545575	0.65198	.	.	ENSG00000157827	ENST00000288670	T	0.39056	1.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.35414	1.06	0.80722	D	1	P	0.36712	0.566	B	0.38106	0.265	T	0.08432	-1.0722	10	0.07813	T	0.8	.	19.68	0.95958	0.0:1.0:0.0:0.0	.	463	Q96PY5-3	.	E	463	ENSP00000288670:Q463E	ENSP00000288670:Q463E	Q	+	1	0	FMNL2	153183678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.569000	0.82380	2.641000	0.89580	0.650000	0.86243	CAA		0.373	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		7	55	0	0	0	1	0	7	55				
OR5H14	403273	broad.mit.edu	37	3	97868949	97868949	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97868949C>A	ENST00000437310.1	+	1	780	c.720C>A	c.(718-720)acC>acA	p.T240T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	240						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTCTCCACCTGTGGAGCTC	0.413																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(718-720)acC>acA		olfactory receptor, family 5, subfamily H, member 14							55.0	54.0	54.0					3																	97868949		2203	4299	6502	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868949C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.720C>A	3.37:g.97868949C>A							p.T240T	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	780	+			240					B9EH15	Silent	SNP	ENST00000437310.1	37	c.720C>A	CCDS33798.1																																																																																				0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			29	81	1	0	8.58068e-18	1	9.78078e-18	29	81				
FBXO15	201456	broad.mit.edu	37	18	71749185	71749185	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:71749185C>T	ENST00000419743.2	-	9	1319	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Missense_Mutation_p.D338N	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	414						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCAAAAATATCAGTTTTCCAC	0.279																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1012-1014)Gat>Aat		F-box protein 15							80.0	76.0	78.0					18																	71749185		2202	4299	6501	SO:0001583	missense	201456							g.chr18:71749185C>T	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1240G>A	18.37:g.71749185C>T	ENSP00000393154:p.Asp414Asn					FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.D414N	p.D338N	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	9	1347	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	338					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.1012G>A	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	3.169	-0.170350	0.06461	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.50548	0.74;0.74	4.78	-7.61	0.01299	.	0.854134	0.10588	N	0.657081	T	0.26629	0.0651	N	0.12961	0.28	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.003;0.004	T	0.12578	-1.0542	10	0.38643	T	0.18	-16.2624	14.2947	0.66304	0.0:0.6994:0.091:0.2096	.	414;338	B3KST3;Q8NCQ5	.;FBX15_HUMAN	N	338;414	ENSP00000269500:D338N;ENSP00000393154:D414N	ENSP00000269500:D338N	D	-	1	0	FBXO15	69900165	0.000000	0.05858	0.004000	0.12327	0.096000	0.18686	-0.267000	0.08619	-1.654000	0.01499	-0.793000	0.03317	GAT		0.279	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		11	79	0	0	0	1	0	11	79				
PPP1R3A	5506	broad.mit.edu	37	7	113518001	113518001	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:113518001G>A	ENST00000284601.3	-	4	3214	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1049					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTAGAAGCAGAGCTGTCAGA	0.373																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3145-3147)tCt>tTt		protein phosphatase 1, regulatory subunit 3A							185.0	185.0	185.0					7																	113518001		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518001G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3146C>T	7.37:g.113518001G>A	ENSP00000284601:p.Ser1049Phe						p.S1049F	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3214	-			1049					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3146C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425323	0.11987	.	.	ENSG00000154415	ENST00000284601	T	0.19105	2.17	5.44	4.56	0.56223	.	0.689811	0.13435	N	0.388157	T	0.25568	0.0622	M	0.66939	2.045	0.09310	N	1	P	0.46277	0.875	B	0.40506	0.331	T	0.16041	-1.0416	10	0.87932	D	0	-1.3765	11.0923	0.48123	0.1486:0.0:0.8514:0.0	.	1049	Q16821	PPR3A_HUMAN	F	1049	ENSP00000284601:S1049F	ENSP00000284601:S1049F	S	-	2	0	PPP1R3A	113305237	0.190000	0.23276	0.083000	0.20561	0.071000	0.16799	1.718000	0.38001	1.296000	0.44742	0.650000	0.86243	TCT		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		20	244	0	0	0	1	0	20	244				
C14orf105	55195	broad.mit.edu	37	14	57960409	57960409	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:57960409G>A	ENST00000216445.3	-	1	161	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	C14orf105_ENST00000526336.1_Missense_Mutation_p.H9Y|C14orf105_ENST00000422976.2_Missense_Mutation_p.H9Y|C14orf105_ENST00000534126.1_Missense_Mutation_p.H9Y	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	9										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ACCCTAAGGTGAGTCTTAGAG	0.428																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(25-27)Cac>Tac		chromosome 14 open reading frame 105							51.0	49.0	50.0					14																	57960409		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57960409G>A	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.25C>T	14.37:g.57960409G>A	ENSP00000216445:p.His9Tyr					C14orf105_ENST00000526336.1_Missense_Mutation_p.H9Y|C14orf105_ENST00000422976.2_Missense_Mutation_p.H9Y|C14orf105_ENST00000534126.1_Missense_Mutation_p.H9Y	p.H9Y	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			1	161	-			9					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.25C>T	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809881	0.50421	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.31	4.41	0.53225	.	0.083796	0.51477	D	0.000090	T	0.55940	0.1952	L	0.48642	1.525	0.27967	N	0.936568	D;B;B	0.71674	0.998;0.077;0.077	D;B;B	0.80764	0.994;0.045;0.045	T	0.48127	-0.9062	10	0.44086	T	0.13	-5.5728	7.417	0.27050	0.0894:0.0:0.7412:0.1694	.	9;9;9	F5GWJ3;E9PSE9;Q9NVL8	.;.;CN105_HUMAN	Y	9	ENSP00000216445:H9Y;ENSP00000392368:H9Y;ENSP00000434003:H9Y;ENSP00000436517:H9Y	ENSP00000216445:H9Y	H	-	1	0	C14orf105	57030162	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.703000	0.47110	2.650000	0.89964	0.563000	0.77884	CAC		0.428	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		7	55	0	0	0	1	0	7	55				
GCN1L1	10985	broad.mit.edu	37	12	120599312	120599312	+	Silent	SNP	G	G	A	rs372829636		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:120599312G>A	ENST00000300648.6	-	22	2430	c.2418C>T	c.(2416-2418)atC>atT	p.I806I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	806					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCCAGCTCGATGATCTGCT	0.522																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2416-2418)atC>atT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		G		0,4324		0,0,2162	200.0	203.0	202.0		2418	-7.1	0.2	12		202	2,8494		0,2,4246	no	coding-synonymous	GCN1L1	NM_006836.1		0,2,6408	AA,AG,GG		0.0235,0.0,0.0156		806/2672	120599312	2,12818	2162	4248	6410	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599312G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2418C>T	12.37:g.120599312G>A							p.I806I	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			22	2430	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		806					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2418C>T	CCDS41847.1																																																																																				0.522	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			24	148	0	0	0	1	0	24	148				
ANKRD50	57182	broad.mit.edu	37	4	125592193	125592193	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:125592193C>G	ENST00000504087.1	-	4	3276	c.2239G>C	c.(2239-2241)Gat>Cat	p.D747H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D568H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	747										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTCATGCCATCTTTATCACAA	0.453																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(2239-2241)Gat>Cat		ankyrin repeat domain 50							131.0	114.0	120.0					4																	125592193		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592193C>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2239G>C	4.37:g.125592193C>G	ENSP00000425658:p.Asp747His					ANKRD50_ENST00000515641.1_Missense_Mutation_p.D568H	p.D747H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	3276	-			747					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2239G>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375232	0.61735	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.18338	2.22;2.22	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.04440	-1.0951	10	0.62326	D	0.03	.	19.4006	0.94627	0.0:1.0:0.0:0.0	.	747	Q9ULJ7	ANR50_HUMAN	H	747;568	ENSP00000425658:D747H;ENSP00000425355:D568H	ENSP00000425658:D747H	D	-	1	0	ANKRD50	125811643	1.000000	0.71417	0.986000	0.45419	0.388000	0.30384	7.164000	0.77533	2.820000	0.97059	0.650000	0.86243	GAT		0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		15	91	0	0	0	1	0	15	91				
COPRS	55352	broad.mit.edu	37	17	30179992	30179992	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:30179992G>A	ENST00000302362.6	-	3	361	c.224C>T	c.(223-225)tCt>tTt	p.S75F	COPRS_ENST00000378634.2_Missense_Mutation_p.S63F	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	75					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TTCCTCTTCAGAATGGGTGCC	0.512																																						ENST00000378634.2																			0											c.(187-189)tCt>tTt		coordinator of PRMT5, differentiation stimulator							198.0	201.0	200.0					17																	30179992		2203	4300	6503	SO:0001583	missense	55352							g.chr17:30179992G>A	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.224C>T	17.37:g.30179992G>A	ENSP00000304327:p.Ser75Phe					COPRS_ENST00000302362.6_Missense_Mutation_p.S75F	p.S63F							3	441	-								A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.188C>T	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	G	3.832	-0.035580	0.07497	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.44881	0.91;0.91	5.42	1.06	0.20224	.	0.568220	0.15634	N	0.252242	T	0.27419	0.0673	L	0.29908	0.895	0.19775	N	0.999958	B	0.11235	0.004	B	0.09377	0.004	T	0.21109	-1.0255	10	0.87932	D	0	-2.8847	5.7867	0.18336	0.1728:0.3186:0.5086:0.0	.	75	Q9NQ92	COPR5_HUMAN	F	75;63	ENSP00000304327:S75F;ENSP00000367901:S63F	ENSP00000304327:S75F	S	-	2	0	C17orf79	27204105	0.092000	0.21681	0.054000	0.19295	0.092000	0.18411	-0.020000	0.12525	-0.003000	0.14444	0.563000	0.77884	TCT		0.512	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		28	300	0	0	0	1	0	28	300				
DPY19L2	283417	broad.mit.edu	37	12	63991675	63991675	+	Missense_Mutation	SNP	G	G	C	rs201623035		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:63991675G>C	ENST00000324472.4	-	14	1558	c.1375C>G	c.(1375-1377)Ctt>Gtt	p.L459V		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	459					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCTGCTATAAGATCACTCAGG	0.313																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1375-1377)Ctt>Gtt		dpy-19-like 2 (C. elegans)							39.0	45.0	43.0					12																	63991675		2197	4277	6474	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63991675G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1375C>G	12.37:g.63991675G>C	ENSP00000315988:p.Leu459Val						p.L459V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	14	1558	-			459					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1375C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331244	0.41297	.	.	ENSG00000177990	ENST00000324472	T	0.60920	0.15	3.14	-0.138	0.13464	.	0.075252	0.53938	D	0.000044	T	0.61912	0.2385	M	0.77313	2.365	0.80722	D	1	P	0.36599	0.56	P	0.49683	0.619	T	0.55003	-0.8208	9	.	.	.	.	4.0109	0.09623	0.1238:0.0:0.4719:0.4044	.	459	Q6NUT2	D19L2_HUMAN	V	459	ENSP00000315988:L459V	.	L	-	1	0	DPY19L2	62277942	1.000000	0.71417	0.838000	0.33150	0.862000	0.49288	0.786000	0.26844	-0.154000	0.11118	-0.246000	0.11932	CTT		0.313	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		11	101	0	0	0	1	0	11	101				
NLRP14	338323	broad.mit.edu	37	11	7064653	7064653	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:7064653A>T	ENST00000299481.4	+	4	1742	c.1396A>T	c.(1396-1398)Att>Ttt	p.I466F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	466	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGCAATATTATTCAGAAGGA	0.388																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1396-1398)Att>Ttt		NLR family, pyrin domain containing 14							106.0	109.0	108.0					11																	7064653		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064653A>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1396A>T	11.37:g.7064653A>T	ENSP00000299481:p.Ile466Phe						p.I466F	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1742	+			466			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1396A>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.383149	0.00205	.	.	ENSG00000158077	ENST00000299481	T	0.74842	-0.88	4.21	-0.0327	0.13904	.	0.534882	0.15786	N	0.244683	T	0.37732	0.1014	N	0.01352	-0.895	0.26728	N	0.970659	B	0.26400	0.148	B	0.17433	0.018	T	0.30937	-0.9961	10	0.41790	T	0.15	.	3.1269	0.06411	0.3802:0.4085:0.0:0.2114	.	466	Q86W24	NAL14_HUMAN	F	466	ENSP00000299481:I466F	ENSP00000299481:I466F	I	+	1	0	NLRP14	7021229	0.969000	0.33509	0.997000	0.53966	0.044000	0.14063	0.412000	0.21131	0.138000	0.18790	-0.286000	0.09958	ATT		0.388	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		22	118	0	0	0	1	0	22	118				
LRRC31	79782	broad.mit.edu	37	3	169569448	169569448	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:169569448A>C	ENST00000316428.5	-	7	1175	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S	LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000523069.1_Missense_Mutation_p.I373S|LRRC31_ENST00000264676.5_Missense_Mutation_p.I317S	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	373										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACAGTTGTTGATAACTAATGA	0.418																																						ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1117-1119)aTc>aGc		leucine rich repeat containing 31							118.0	113.0	114.0					3																	169569448		1849	4107	5956	SO:0001583	missense	79782							g.chr3:169569448A>C	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1118T>G	3.37:g.169569448A>C	ENSP00000325978:p.Ile373Ser					LRRC31_ENST00000523069.1_Missense_Mutation_p.I373S|LRRC31_ENST00000264676.5_Missense_Mutation_p.I317S	p.I373S	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		7	1175	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		373					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1118T>G	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954685	0.73902	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.56275	0.47;0.47;0.47	4.89	4.89	0.63831	.	0.369874	0.30704	N	0.009041	T	0.60353	0.2262	M	0.72118	2.19	0.27138	N	0.961712	P;P	0.49783	0.928;0.818	P;B	0.48270	0.572;0.369	T	0.61926	-0.6962	10	0.87932	D	0	0.3527	14.5121	0.67794	1.0:0.0:0.0:0.0	.	317;373	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	S	373;317;373	ENSP00000325978:I373S;ENSP00000264676:I317S;ENSP00000429145:I373S	ENSP00000264676:I317S	I	-	2	0	LRRC31	171052142	1.000000	0.71417	0.187000	0.23214	0.343000	0.28985	5.946000	0.70234	1.837000	0.53436	0.379000	0.24179	ATC		0.418	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		13	120	0	0	0	1	0	13	120				
DHX32	55760	broad.mit.edu	37	10	127569194	127569194	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:127569194T>C	ENST00000284690.3	-	1	690	c.200A>G	c.(199-201)gAa>gGa	p.E67G	DHX32_ENST00000284688.6_Missense_Mutation_p.E67G	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	67						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAGTATTTTTCTTTCCATAT	0.378																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(199-201)gAa>gGa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							77.0	74.0	75.0					10																	127569194		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127569194T>C		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.200A>G	10.37:g.127569194T>C	ENSP00000284690:p.Glu67Gly					DHX32_ENST00000284688.6_Missense_Mutation_p.E67G	p.E67G	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			1	690	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	67					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.200A>G	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492703	0.26774	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.08282	3.11;3.11;3.11	4.94	4.94	0.65067	.	0.250069	0.39020	N	0.001482	T	0.06690	0.0171	L	0.37897	1.145	0.25303	N	0.989268	B	0.29716	0.255	B	0.22152	0.038	T	0.25847	-1.0120	10	0.87932	D	0	-25.6851	6.7572	0.23520	0.1964:0.0:0.1302:0.6733	.	67	Q7L7V1	DHX32_HUMAN	G	67	ENSP00000284690:E67G;ENSP00000284688:E67G;ENSP00000406781:E67G	ENSP00000284688:E67G	E	-	2	0	DHX32	127559184	0.898000	0.30612	0.986000	0.45419	0.971000	0.66376	1.283000	0.33237	2.068000	0.61886	0.454000	0.30748	GAA		0.378	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		9	85	0	0	0	1	0	9	85				
FAM196A	642938	broad.mit.edu	37	10	128973746	128973746	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:128973746A>T	ENST00000522781.1	-	4	1469	c.914T>A	c.(913-915)cTg>cAg	p.L305Q	FAM196A_ENST00000424811.2_Missense_Mutation_p.L305Q|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	305										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGAGCAGGCCAGGGCAGTTTC	0.672																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(913-915)cTg>cAg		family with sequence similarity 196, member A							36.0	39.0	38.0					10																	128973746		2203	4299	6502	SO:0001583	missense	642938							g.chr10:128973746A>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.914T>A	10.37:g.128973746A>T	ENSP00000429763:p.Leu305Gln					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L305Q	p.L305Q	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1469	-			305					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.914T>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	A	0.447	-0.895798	0.02472	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.40225	1.04;1.04	4.79	-7.21	0.01490	.	1.479750	0.03725	N	0.252562	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.16289	0.015;0.015	T	0.19451	-1.0305	10	0.13108	T	0.6	.	9.5406	0.39248	0.1102:0.0903:0.6357:0.1638	.	305;305	B7ZME7;Q6ZSG2	.;F196A_HUMAN	Q	305	ENSP00000429763:L305Q;ENSP00000428730:L305Q	ENSP00000428730:L305Q	L	-	2	0	FAM196A	128863736	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.076000	0.11412	-1.011000	0.03391	0.460000	0.39030	CTG		0.672	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	70	0	0	0	1	0	6	70				
IMPG1	3617	broad.mit.edu	37	6	76713618	76713618	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:76713618C>A	ENST00000369950.3	-	11	1374	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGATGTGGGCAGCTCTGATT	0.383																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1183-1185)ctG>ctT		interphotoreceptor matrix proteoglycan 1							87.0	78.0	81.0					6																	76713618		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76713618C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1185G>T	6.37:g.76713618C>A						IMPG1_ENST00000369963.3_3'UTR	p.L395L	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			11	1374	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	395						Silent	SNP	ENST00000369950.3	37	c.1185G>T	CCDS4985.1																																																																																				0.383	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		8	68	1	0	0.00621372	1	0.00629091	8	68				
PZP	5858	broad.mit.edu	37	12	9309893	9309893	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:9309893T>C	ENST00000261336.2	-	28	3456	c.3428A>G	c.(3427-3429)gAg>gGg	p.E1143G	PZP_ENST00000381997.2_Missense_Mutation_p.E929G	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1143					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGGGTCCCCTCCTTTGCTAC	0.468																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(3427-3429)gAg>gGg		pregnancy-zone protein							111.0	107.0	109.0					12																	9309893		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9309893T>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3428A>G	12.37:g.9309893T>C	ENSP00000261336:p.Glu1143Gly					PZP_ENST00000381997.2_Missense_Mutation_p.E929G	p.E1143G	NM_002864.2	NP_002855.2					28	3456	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3428A>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401684	0.25291	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36520	1.44;1.25	3.33	3.33	0.38152	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.675360	0.03960	N	0.289992	T	0.48314	0.1493	M	0.83852	2.665	0.09310	N	1	P;B	0.46784	0.884;0.045	B;B	0.42916	0.402;0.139	T	0.43637	-0.9379	10	0.40728	T	0.16	.	10.2773	0.43519	0.0:0.0:0.0:1.0	.	929;1143	P20742-2;P20742	.;PZP_HUMAN	G	1143;929	ENSP00000261336:E1143G;ENSP00000371427:E929G	ENSP00000261336:E1143G	E	-	2	0	PZP	9201160	0.004000	0.15560	0.006000	0.13384	0.091000	0.18340	1.545000	0.36169	1.738000	0.51689	0.455000	0.32223	GAG		0.468	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		30	102	0	0	0	1	0	30	102				
SLFN13	146857	broad.mit.edu	37	17	33768044	33768044	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:33768044T>A	ENST00000285013.6	-	6	2539	c.2264A>T	c.(2263-2265)aAt>aTt	p.N755I	SLFN13_ENST00000360502.2_Missense_Mutation_p.N437I|SLFN13_ENST00000526861.1_Missense_Mutation_p.N755I|SLFN13_ENST00000542635.1_Missense_Mutation_p.N755I|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437I|SLFN13_ENST00000533791.1_Missense_Mutation_p.N755I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	755						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGGGGGATATTAATTGGAGG	0.383																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2263-2265)aAt>aTt		schlafen family member 13							102.0	109.0	107.0					17																	33768044		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33768044T>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2264A>T	17.37:g.33768044T>A	ENSP00000285013:p.Asn755Ile					SLFN13_ENST00000542635.1_Missense_Mutation_p.N755I|SLFN13_ENST00000360502.2_Missense_Mutation_p.N437I|SLFN13_ENST00000533791.1_Missense_Mutation_p.N755I|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437I|SLFN13_ENST00000526861.1_Missense_Mutation_p.N755I	p.N755I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2539	-			755					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2264A>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	14.06	2.422390	0.43020	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03745	4.4;3.82;4.4;4.4;3.82	3.41	1.06	0.20224	.	0.394260	0.21734	N	0.069938	T	0.11110	0.0271	M	0.71206	2.165	0.09310	N	0.99999	P;D	0.71674	0.686;0.998	B;D	0.76071	0.26;0.987	T	0.13361	-1.0512	10	0.59425	D	0.04	.	2.642	0.04974	0.2274:0.1322:0.0:0.6404	.	437;755	Q68D06-2;Q68D06	.;SLN13_HUMAN	I	755;437;755;755;437	ENSP00000285013:N755I;ENSP00000353692:N437I;ENSP00000434439:N755I;ENSP00000444016:N755I;ENSP00000435442:N437I	ENSP00000285013:N755I	N	-	2	0	SLFN13	30792157	0.000000	0.05858	0.179000	0.23059	0.011000	0.07611	-0.275000	0.08525	0.062000	0.16340	0.334000	0.21626	AAT		0.383	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		25	180	0	0	0	1	0	25	180				
UVSSA	57654	broad.mit.edu	37	4	1369264	1369264	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:1369264C>G	ENST00000389851.4	+	9	1848	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	UVSSA_ENST00000511216.1_Silent_p.L467L|UVSSA_ENST00000512728.1_Silent_p.L18L|UVSSA_ENST00000511563.1_Silent_p.L18L|UVSSA_ENST00000507531.1_Silent_p.L467L	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	467					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TGCGGCAGCTCCGGGACCACT	0.662																																						ENST00000389851.4																			0											c.(1399-1401)ctC>ctG		UV-stimulated scaffold protein A							90.0	79.0	82.0					4																	1369264		2203	4300	6503	SO:0001819	synonymous_variant	57654							g.chr4:1369264C>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1401C>G	4.37:g.1369264C>G						UVSSA_ENST00000512728.1_Silent_p.L18L|UVSSA_ENST00000511563.1_Silent_p.L18L|UVSSA_ENST00000511216.1_Silent_p.L467L|UVSSA_ENST00000507531.1_Silent_p.L467L	p.L467L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			9	1848	+			467					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1401C>G	CCDS33938.1																																																																																				0.662	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		11	107	0	0	0	1	0	11	107				
PCDHGA6	56109	broad.mit.edu	37	5	140755818	140755818	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140755818G>A	ENST00000517434.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	723					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.647																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2167-2169)cGc>cAc									82.0	89.0	87.0					5																	140755818		2203	4300	6503	SO:0001583	missense	56109							g.chr5:140755818G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2168G>A	5.37:g.140755818G>A	ENSP00000429601:p.Arg723His					PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R723H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2168	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2168G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.25	2.182335	0.38511	.	.	ENSG00000253731	ENST00000517434	T	0.15372	2.43	5.15	-0.662	0.11413	.	0.819212	0.09410	U	0.805991	T	0.15349	0.0370	L	0.48935	1.535	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.13407	0.008;0.009	T	0.31280	-0.9949	10	0.48119	T	0.1	.	8.9657	0.35874	0.6259:0.0:0.3741:0.0	.	723;723	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	723	ENSP00000429601:R723H	ENSP00000429601:R723H	R	+	2	0	PCDHGA6	140736002	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.057000	0.14279	-0.047000	0.13423	-0.137000	0.14449	CGC		0.647	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		33	128	0	0	0	1	0	33	128				
SNTG1	54212	broad.mit.edu	37	8	51449336	51449336	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:51449336C>G	ENST00000522124.1	+	11	1309	c.648C>G	c.(646-648)ttC>ttG	p.F216L	SNTG1_ENST00000518864.1_Missense_Mutation_p.F216L|SNTG1_ENST00000276467.5_Missense_Mutation_p.F216L|SNTG1_ENST00000517473.1_Missense_Mutation_p.F216L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	216					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTCGCGCTTCTCTCAGTATG	0.483																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(646-648)ttC>ttG		syntrophin, gamma 1							210.0	186.0	194.0					8																	51449336		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51449336C>G	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.648C>G	8.37:g.51449336C>G	ENSP00000429842:p.Phe216Leu					SNTG1_ENST00000517473.1_Missense_Mutation_p.F216L|SNTG1_ENST00000518864.1_Missense_Mutation_p.F216L|SNTG1_ENST00000276467.5_Missense_Mutation_p.F216L	p.F216L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			11	1309	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	216					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.648C>G	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	6.177	0.400814	0.11696	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.91	3.08	0.35506	Pleckstrin homology domain (1);	0.113719	0.64402	N	0.000006	T	0.15998	0.0385	N	0.02011	-0.69	0.36320	D	0.858174	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.04796	-1.0926	10	0.21014	T	0.42	.	1.9829	0.03430	0.1645:0.5:0.1594:0.176	.	216;216	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	L	216	ENSP00000429276:F216L;ENSP00000429842:F216L;ENSP00000431123:F216L;ENSP00000276467:F216L	ENSP00000276467:F216L	F	+	3	2	SNTG1	51611889	1.000000	0.71417	0.993000	0.49108	0.073000	0.16967	0.451000	0.21779	0.471000	0.27319	0.491000	0.48974	TTC		0.483	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			20	216	0	0	0	1	0	20	216				
TIGD3	220359	broad.mit.edu	37	11	65123763	65123763	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:65123763C>G	ENST00000309880.5	+	2	691	c.484C>G	c.(484-486)Ctt>Gtt	p.L162V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	162						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCAGCTGCCTCTTTCCCTAAA	0.592																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(484-486)Ctt>Gtt		tigger transposable element derived 3							107.0	112.0	110.0					11																	65123763		2199	4296	6495	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123763C>G		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.484C>G	11.37:g.65123763C>G	ENSP00000308354:p.Leu162Val						p.L162V	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	691	+			162						Missense_Mutation	SNP	ENST00000309880.5	37	c.484C>G	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566663	0.13560	.	.	ENSG00000173825	ENST00000309880	T	0.13901	2.55	4.14	2.03	0.26663	.	0.000000	0.31221	N	0.008027	T	0.07638	0.0192	L	0.27053	0.805	0.29389	N	0.862747	B	0.14012	0.009	B	0.12837	0.008	T	0.26503	-1.0101	10	0.16420	T	0.52	-8.5936	6.4004	0.21636	0.2118:0.5828:0.2054:0.0	.	162	Q6B0B8	TIGD3_HUMAN	V	162	ENSP00000308354:L162V	ENSP00000308354:L162V	L	+	1	0	TIGD3	64880339	0.001000	0.12720	0.997000	0.53966	0.907000	0.53573	0.009000	0.13219	1.081000	0.41110	0.456000	0.33151	CTT		0.592	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		6	261	0	0	0	1	0	6	261				
TMEM27	57393	broad.mit.edu	37	X	15682496	15682496	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:15682496C>A	ENST00000380342.3	-	2	336	c.81G>T	c.(79-81)gtG>gtT	p.V27V		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	27					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TACTAAGTCTCACTTTAAAAG	0.358																																						ENST00000380342.3																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(79-81)gtG>gtT		transmembrane protein 27							89.0	69.0	76.0					X																	15682496		2202	4292	6494	SO:0001819	synonymous_variant	57393				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	g.chrX:15682496C>A	AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.81G>T	X.37:g.15682496C>A							p.V27V	NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN			2	336	-	Hepatocellular(33;0.183)		27					B2R9M1|Q6UW07	Silent	SNP	ENST00000380342.3	37	c.81G>T	CCDS14170.1																																																																																				0.358	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		3	16	1	0	0.150653	1	0.150653	3	16				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	29	0	0	0	1	0	3	29				
TRPA1	8989	broad.mit.edu	37	8	72935163	72935163	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:72935163T>G	ENST00000262209.4	-	27	3545	c.3338A>C	c.(3337-3339)aAa>aCa	p.K1113T	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1113					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGGTGTGTTTTTGCCTTGAC	0.423																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(3337-3339)aAa>aCa		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						287.0	265.0	272.0					8																	72935163		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72935163T>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3338A>C	8.37:g.72935163T>G	ENSP00000262209:p.Lys1113Thr					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.K1113T	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		27	3545	-			1113					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.3338A>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972294	0.74246	.	.	ENSG00000104321	ENST00000262209	T	0.45668	0.89	5.33	4.18	0.49190	.	0.267582	0.41823	D	0.000807	T	0.42200	0.1192	M	0.76002	2.32	0.24667	N	0.993434	P	0.47106	0.89	B	0.40901	0.343	T	0.46331	-0.9199	10	0.72032	D	0.01	-15.1652	8.762	0.34680	0.0:0.087:0.0:0.913	.	1113	O75762	TRPA1_HUMAN	T	1113	ENSP00000262209:K1113T	ENSP00000262209:K1113T	K	-	2	0	TRPA1	73097717	0.961000	0.32948	0.371000	0.25978	0.881000	0.50899	2.376000	0.44292	0.883000	0.36040	0.459000	0.35465	AAA		0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		11	93	0	0	0	1	0	11	93				
MLH1	4292	broad.mit.edu	37	3	37090050	37090050	+	Missense_Mutation	SNP	G	G	C	rs63750109		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:37090050G>C	ENST00000231790.2	+	17	2155	c.1939G>C	c.(1939-1941)Gtg>Ctg	p.V647L	MLH1_ENST00000458205.2_Missense_Mutation_p.V406L|MLH1_ENST00000435176.1_Missense_Mutation_p.V549L|MLH1_ENST00000536378.1_Missense_Mutation_p.V406L|MLH1_ENST00000455445.2_Missense_Mutation_p.V406L|MLH1_ENST00000539477.1_Missense_Mutation_p.V406L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	647	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGACAACTATGTGCCCCCTTT	0.448		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1939-1941)Gtg>Ctg	Mismatch excision repair (MMR)	mutL homolog 1							177.0	160.0	166.0					3																	37090050		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37090050G>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1939G>C	3.37:g.37090050G>C	ENSP00000231790:p.Val647Leu					MLH1_ENST00000435176.1_Missense_Mutation_p.V549L|MLH1_ENST00000458205.2_Missense_Mutation_p.V406L|MLH1_ENST00000536378.1_Missense_Mutation_p.V406L|MLH1_ENST00000539477.1_Missense_Mutation_p.V406L|MLH1_ENST00000455445.2_Missense_Mutation_p.V406L	p.V647L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			17	2155	+			647			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.1939G>C	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006784	0.54361	.	.	ENSG00000076242	ENST00000231790;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.81	4.93	0.64822	.	0.118927	0.56097	D	0.000036	T	0.79592	0.4472	L	0.33668	1.02	0.37924	D	0.931781	B;B;B	0.17667	0.023;0.01;0.001	B;B;B	0.10450	0.005;0.002;0.002	T	0.71041	-0.4707	10	0.09590	T	0.72	-18.2101	8.2713	0.31846	0.2419:0.0:0.7581:0.0	.	549;406;647	E9PCU2;B4DI13;P40692	.;.;MLH1_HUMAN	L	647;406;406;406;549;406	ENSP00000231790:V647L;ENSP00000402667:V406L;ENSP00000443665:V406L;ENSP00000398272:V406L;ENSP00000402564:V549L;ENSP00000444286:V406L	ENSP00000231790:V647L	V	+	1	0	MLH1	37065054	0.967000	0.33354	1.000000	0.80357	0.998000	0.95712	1.992000	0.40737	2.768000	0.95171	0.650000	0.86243	GTG		0.448	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		31	190	0	0	0	1	0	31	190				
ARFGEF2	10564	broad.mit.edu	37	20	47621631	47621631	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:47621631G>A	ENST00000371917.4	+	26	3457	c.3457G>A	c.(3457-3459)Gtg>Atg	p.V1153M		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1153					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAATGAAGATGTGGCTATCTT	0.433																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3457-3459)Gtg>Atg		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							240.0	233.0	235.0					20																	47621631		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47621631G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3457G>A	20.37:g.47621631G>A	ENSP00000360985:p.Val1153Met						p.V1153M	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		26	3457	+			1153					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3457G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127184	0.94429	.	.	ENSG00000124198	ENST00000371917	T	0.71103	-0.54	5.86	5.86	0.93980	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87069	0.2158	10	0.87932	D	0	.	20.1722	0.98160	0.0:0.0:1.0:0.0	.	1153	Q9Y6D5	BIG2_HUMAN	M	1153	ENSP00000360985:V1153M	ENSP00000360985:V1153M	V	+	1	0	ARFGEF2	47055038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.852000	0.99516	2.774000	0.95407	0.609000	0.83330	GTG		0.433	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		9	363	0	0	0	1	0	9	363				
GPR111	222611	broad.mit.edu	37	6	47649190	47649190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:47649190G>T	ENST00000296862.1	+	6	895	c.895G>T	c.(895-897)Gga>Tga	p.G299*	GPR111_ENST00000398742.2_Nonsense_Mutation_p.G231*|GPR111_ENST00000507065.1_Nonsense_Mutation_p.G231*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	299					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACCATATCTGGAGATAACAT	0.378																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(691-693)Gga>Tga		G protein-coupled receptor 111							120.0	112.0	114.0					6																	47649190		1873	4115	5988	SO:0001587	stop_gained	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649190G>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.895G>T	6.37:g.47649190G>T	ENSP00000296862:p.Gly299*					GPR111_ENST00000507065.1_Nonsense_Mutation_p.G231*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.G299*	p.G231*			Q8IZF7	GP111_HUMAN			5	740	+			299					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Nonsense_Mutation	SNP	ENST00000296862.1	37	c.691G>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.925212	0.92319	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	.	.	.	5.19	0.53	0.17102	.	1.006810	0.07994	N	0.987680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	5.3138	0.15845	0.3869:0.2891:0.324:0.0	.	.	.	.	X	231;299;231	.	ENSP00000296862:G299X	G	+	1	0	GPR111	47757149	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	0.220000	0.17660	-0.133000	0.11537	0.579000	0.79373	GGA		0.378	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		17	115	1	0	1.5739e-10	1	1.73341e-10	17	115				
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A	rs200948384		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:43318566G>A	ENST00000374518.5	+	20	3196	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e20-1		BMS1 ribosome biogenesis factor							73.0	81.0	78.0					10																	43318566		2202	4298	6500	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318566G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3133-1G>A	10.37:g.43318566G>A							p.G1045_splice	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3196	+			1045					Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37	c.3132_splice	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473226	0.84640	.	.	ENSG00000165733	ENST00000374518	T	0.16457	2.34	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.59984	-0.7351	9	.	.	.	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1045	Q14692	BMS1_HUMAN	R	1045	ENSP00000363642:G1045R	.	G	+	1	0	BMS1	42638572	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.439000	0.97543	2.250000	0.74265	0.454000	0.30748	GGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Missense_Mutation	4	131	0	0	0	1	0	4	131				
RNF213	57674	broad.mit.edu	37	17	78360157	78360157	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:78360157C>G	ENST00000582970.1	+	62	14790	c.14647C>G	c.(14647-14649)Ctc>Gtc	p.L4883V	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4932V|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2956V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4883					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCTACCGCTCTCGTCAGCTA	0.532																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14647-14649)Ctc>Gtc		ring finger protein 213							132.0	113.0	119.0					17																	78360157		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78360157C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14647C>G	17.37:g.78360157C>G	ENSP00000464087:p.Leu4883Val					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2956V|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4932V	p.L4883V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		62	14790	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.14647C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126178	0.20959	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.40756	1.02	5.18	0.0392	0.14203	.	0.093814	0.40554	N	0.001066	T	0.56702	0.2003	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51164	-0.8740	10	0.52906	T	0.07	.	10.331	0.43823	0.0:0.4193:0.0:0.5807	.	2956	Q63HN8	RN213_HUMAN	V	4883;4932;2956;233	ENSP00000338218:L2956V	ENSP00000338218:L2956V	L	+	1	0	RNF213	75974752	0.008000	0.16893	0.015000	0.15790	0.006000	0.05464	0.097000	0.15168	-0.294000	0.08973	-0.378000	0.06908	CTC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	177	0	0	0	1	0	4	177				
PPP2R3A	5523	broad.mit.edu	37	3	135801212	135801212	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801212G>A	ENST00000264977.3	+	8	3354	c.2737G>A	c.(2737-2739)Gat>Aat	p.D913N	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D292N|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D177N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	913					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTAGATACTGATCACGACCT	0.358																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2737-2739)Gat>Aat		protein phosphatase 2, regulatory subunit B'', alpha							129.0	130.0	130.0					3																	135801212		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801212G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2737G>A	3.37:g.135801212G>A	ENSP00000264977:p.Asp913Asn					PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D177N|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D292N	p.D913N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3354	+			913					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2737G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429677	0.96131	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.74947	-0.89;-0.89;-0.89	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.69824	0.945;0.966	D	0.89563	0.3808	10	0.66056	D	0.02	.	18.3583	0.90365	0.0:0.0:1.0:0.0	.	292;913	Q06190-2;Q06190	.;P2R3A_HUMAN	N	913;177;292	ENSP00000264977:D913N;ENSP00000419344:D177N;ENSP00000334748:D292N	ENSP00000264977:D913N	D	+	1	0	PPP2R3A	137283902	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.593000	0.87608	0.563000	0.77884	GAT		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		49	799	0	0	0	1	0	49	799				
TTN	7273	broad.mit.edu	37	2	179615620	179615620	+	Intron	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179615620C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R3836K|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTGTCCTCTTGCTTGGGT	0.373																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11506-11508)aGa>aAa		titin							100.0	107.0	105.0					2																	179615620		2202	4298	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615620C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2230G>A	2.37:g.179615620C>T						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	p.R3836K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11729	-			9671					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11507G>A		.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031859	0.07543	.	.	ENSG00000155657	ENST00000360870	T	0.57436	0.4	5.4	-2.47	0.06442	.	.	.	.	.	T	0.22627	0.0546	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	9	0.05833	T	0.94	.	1.3809	0.02230	0.2093:0.3405:0.1028:0.3474	.	3836	Q8WZ42-6	.	K	3836	ENSP00000354117:R3836K	ENSP00000354117:R3836K	R	-	2	0	TTN	179323865	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.029000	0.03585	-0.134000	0.11516	0.655000	0.94253	AGA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	132	0	0	0	1	0	5	132				
PPP2R3A	5523	broad.mit.edu	37	3	135721723	135721723	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135721723C>T	ENST00000264977.3	+	2	2000	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	461					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATGCCCCACCCCAA	0.328																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1381-1383)tgC>tgT		protein phosphatase 2, regulatory subunit B'', alpha							71.0	79.0	76.0					3																	135721723		2195	4296	6491	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721723C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1383C>T	3.37:g.135721723C>T						PPP2R3A_ENST00000490467.1_Intron	p.C461C	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2000	+			461					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1383C>T	CCDS3087.1																																																																																				0.328	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		7	658	0	0	0	1	0	7	658				
ZNF649	65251	broad.mit.edu	37	19	52394092	52394092	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:52394092C>T	ENST00000354957.3	-	5	1581	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000451628.2_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.D405N	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCACACTCATCACAGCCATAG	0.438																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1297-1299)Gat>Aat		zinc finger protein 649							155.0	153.0	154.0					19																	52394092		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394092C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1297G>A	19.37:g.52394092C>T	ENSP00000347043:p.Asp433Asn					ZNF649_ENST00000600738.1_Missense_Mutation_p.D405N|CTC-429C10.2_ENST00000600329.1_RNA	p.D433N	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1581	-		all_neural(266;0.0602)	433					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1297G>A	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.193008	0.01607	.	.	ENSG00000198093	ENST00000354957	T	0.07327	3.2	2.63	0.131	0.14755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43782	-0.9370	9	0.02654	T	1	.	2.5836	0.04825	0.3386:0.315:0.0:0.3465	.	433	Q9BS31	ZN649_HUMAN	N	433	ENSP00000347043:D433N	ENSP00000347043:D433N	D	-	1	0	ZNF649	57085904	0.000000	0.05858	0.005000	0.12908	0.406000	0.30931	-5.356000	0.00129	-0.314000	0.08716	0.404000	0.27445	GAT		0.438	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		40	220	0	0	0	1	0	40	220				
TRIM45	80263	broad.mit.edu	37	1	117660854	117660854	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117660854C>G	ENST00000256649.4	-	2	1550	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	TRIM45_ENST00000369464.3_Missense_Mutation_p.E342Q|TRIM45_ENST00000369461.3_Missense_Mutation_p.E285Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	342					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		ATGAGGATCTCCAAGTCTGAG	0.532																																						ENST00000256649.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(1024-1026)Gag>Cag		tripartite motif containing 45							88.0	83.0	85.0					1																	117660854		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117660854C>G		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1024G>C	1.37:g.117660854C>G	ENSP00000256649:p.Glu342Gln					TRIM45_ENST00000369461.3_Missense_Mutation_p.E285Q|TRIM45_ENST00000369464.3_Missense_Mutation_p.E342Q	p.E342Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1550	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	342					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1024G>C	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415336	0.83449	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;T	0.83837	-1.72;-1.77;-1.47	5.01	5.01	0.66863	.	0.161586	0.56097	D	0.000040	D	0.85995	0.5827	L	0.59436	1.845	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	D	0.85088	0.0950	10	0.41790	T	0.15	-34.6379	13.2573	0.60087	0.0:0.841:0.159:0.0	.	342;342	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	Q	342;342;285	ENSP00000256649:E342Q;ENSP00000358476:E342Q;ENSP00000358473:E285Q	ENSP00000256649:E342Q	E	-	1	0	TRIM45	117462377	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	5.288000	0.65651	2.604000	0.88044	0.655000	0.94253	GAG		0.532	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		18	97	0	0	0	1	0	18	97				
CDH26	60437	broad.mit.edu	37	20	58559753	58559753	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:58559753C>G	ENST00000244047.5	+	6	912	c.601C>G	c.(601-603)Caa>Gaa	p.Q201E	CDH26_ENST00000348616.4_Missense_Mutation_p.Q201E			Q8IXH8	CAD26_HUMAN	cadherin 26	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCCAAATTCTCAAGTCCTTTA	0.373																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(601-603)Caa>Gaa		cadherin 26							126.0	130.0	129.0					20																	58559753		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58559753C>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.601C>G	20.37:g.58559753C>G	ENSP00000244047:p.Gln201Glu					CDH26_ENST00000244047.5_Missense_Mutation_p.Q201E	p.Q201E	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		6	901	+	all_lung(29;0.00963)		201			Cadherin 2.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.601C>G		.	.	.	.	.	.	.	.	.	.	C	0.568	-0.842168	0.02671	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.52295	0.67;0.67	4.29	2.02	0.26589	.	0.737334	0.13427	N	0.388739	T	0.23330	0.0564	N	0.03050	-0.425	0.25445	N	0.988052	B	0.10296	0.003	B	0.17433	0.018	T	0.21211	-1.0252	10	0.48119	T	0.1	.	9.2185	0.37362	0.1497:0.6809:0.1694:0.0	.	201	Q8IXH8-4	.	E	201	ENSP00000244047:Q201E;ENSP00000339390:Q201E	ENSP00000244047:Q201E	Q	+	1	0	CDH26	57993148	0.994000	0.37717	0.992000	0.48379	0.960000	0.62799	0.125000	0.15749	0.735000	0.32537	0.655000	0.94253	CAA		0.373	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		17	213	0	0	0	1	0	17	213				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374461	95374461	+	RNA	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:95374461G>T	ENST00000494840.1	-	0	1400					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		TCTGGAAGAGGCAGCTGAACA	0.378																																						ENST00000494840.1																			0																																																			100287639							g.chr3:95374461G>T			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374461G>T								NR_077228.1						0	1400	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.378	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			9	63	1	0	3.09899e-07	1	3.34526e-07	9	63				
TPR	7175	broad.mit.edu	37	1	186302476	186302476	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:186302476T>C	ENST00000367478.4	-	37	5529	c.5233A>G	c.(5233-5235)Agt>Ggt	p.S1745G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1745					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACGGATCCACTTGTGCTTCCA	0.403			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(5233-5235)Agt>Ggt		translocated promoter region, nuclear basket protein							135.0	129.0	131.0					1																	186302476		1895	4102	5997	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186302476T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5233A>G	1.37:g.186302476T>C	ENSP00000356448:p.Ser1745Gly						p.S1745G	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	37	5529	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1745					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5233A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.662676	0.88251	.	.	ENSG00000047410	ENST00000367478	T	0.27890	1.64	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.76328	2.33	0.80722	D	1	P	0.34864	0.473	B	0.38327	0.271	T	0.43475	-0.9389	10	0.72032	D	0.01	.	14.9507	0.71071	0.0:0.0:0.0:1.0	.	1745	P12270	TPR_HUMAN	G	1745	ENSP00000356448:S1745G	ENSP00000356448:S1745G	S	-	1	0	TPR	184569099	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.331000	0.79192	1.947000	0.56498	0.524000	0.50904	AGT		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		35	110	0	0	0	1	0	35	110				
CNTN6	27255	broad.mit.edu	37	3	1424759	1424759	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:1424759G>C	ENST00000446702.2	+	18	2927	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T	CNTN6_ENST00000350110.2_Missense_Mutation_p.S767T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S695T			Q9UQ52	CNTN6_HUMAN	contactin 6	767	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGAAATGAAAGCATCATCCCA	0.448																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2299-2301)aGc>aCc		contactin 6							166.0	151.0	156.0					3																	1424759		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424759G>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2300G>C	3.37:g.1424759G>C	ENSP00000407822:p.Ser767Thr					CNTN6_ENST00000350110.2_Missense_Mutation_p.S767T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S695T	p.S767T			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2927	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	767			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2300G>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673578	0.29693	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.54675	0.56;0.56;0.56	6.08	4.31	0.51392	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.074119	0.64402	D	0.000020	T	0.37433	0.1003	N	0.21617	0.685	0.44254	D	0.9971	B	0.27853	0.191	B	0.25506	0.061	T	0.08868	-1.0701	10	0.19590	T	0.45	.	14.1823	0.65583	0.0946:0.0:0.9054:0.0	.	767	Q9UQ52	CNTN6_HUMAN	T	767;695;767	ENSP00000407822:S767T;ENSP00000442791:S695T;ENSP00000341882:S767T	ENSP00000341882:S767T	S	+	2	0	CNTN6	1399759	1.000000	0.71417	0.303000	0.25071	0.812000	0.45895	3.538000	0.53597	0.922000	0.37019	0.655000	0.94253	AGC		0.448	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		12	66	0	0	0	1	0	12	66				
KCNA10	3744	broad.mit.edu	37	1	111060290	111060290	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:111060290C>T	ENST00000369771.2	-	1	1507	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	374					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AACCCCAACTCCCGCATGGAC	0.552																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1120-1122)Gag>Aag		potassium voltage-gated channel, shaker-related subfamily, member 10							89.0	84.0	86.0					1																	111060290		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060290C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1120G>A	1.37:g.111060290C>T	ENSP00000358786:p.Glu374Lys						p.E374K	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1507	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	374						Missense_Mutation	SNP	ENST00000369771.2	37	c.1120G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560346	0.86335	.	.	ENSG00000143105	ENST00000369771	D	0.98329	-4.87	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99905	1.1177	10	0.87932	D	0	.	18.3064	0.90184	0.0:1.0:0.0:0.0	.	374	Q16322	KCA10_HUMAN	K	374	ENSP00000358786:E374K	ENSP00000358786:E374K	E	-	1	0	KCNA10	110861813	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.815000	0.86186	2.676000	0.91093	0.558000	0.71614	GAG		0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		8	106	0	0	0	1	0	8	106				
KMT2E	55904	broad.mit.edu	37	7	104730610	104730610	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:104730610C>A	ENST00000311117.3	+	14	2058	c.1513C>A	c.(1513-1515)Caa>Aaa	p.Q505K	KMT2E_ENST00000476671.1_Missense_Mutation_p.Q505K|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q505K|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q505K|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	505					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAAAGATACACAAAATCAGAA	0.333																																						ENST00000334877.4																			0											c.(1513-1515)Caa>Aaa		lysine (K)-specific methyltransferase 2E							68.0	76.0	73.0					7																	104730610		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104730610C>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1513C>A	7.37:g.104730610C>A	ENSP00000312379:p.Gln505Lys					KMT2E_ENST00000257745.4_Missense_Mutation_p.Q505K|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q505K|KMT2E_ENST00000476671.1_Missense_Mutation_p.Q505K|KMT2E_ENST00000334914.7_5'UTR	p.Q505K							14	2047	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.1513C>A	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.350878|4.350878	0.82132|0.82132	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000537308|ENST00000311117;ENST00000393656;ENST00000334877;ENST00000257745;ENST00000476671	.|D;D;D;D	.|0.93366	.|-2.82;-2.44;-2.82;-3.21	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.121992	.|0.64402	.|D	.|0.000019	D|D	0.96024|0.96024	0.8705|0.8705	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.982	.|D;D	.|0.70227	.|0.952;0.968	D|D	0.93670|0.93670	0.6989|0.6989	6|10	0.16896|0.21014	T|T	0.51|0.42	.|.	20.1338|20.1338	0.98010|0.98010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|505;505	.|Q8IZD2;Q8IZD2-3	.|MLL5_HUMAN;.	Q|K	438|505	.|ENSP00000312379:Q505K;ENSP00000335599:Q505K;ENSP00000257745:Q505K;ENSP00000417888:Q505K	ENSP00000439074:H438Q|ENSP00000257745:Q505K	H|Q	+|+	3|1	2|0	MLL5|MLL5	104517846|104517846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	CAC|CAA		0.333	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			7	138	1	0	8.12818e-05	1	8.46578e-05	7	138				
BRCA2	675	broad.mit.edu	37	13	32906550	32906550	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:32906550T>G	ENST00000380152.3	+	10	1168	c.935T>G	c.(934-936)tTt>tGt	p.F312C	BRCA2_ENST00000544455.1_Missense_Mutation_p.F312C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	312					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATTATGTTTTTCTAAATGT	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(934-936)tTt>tGt	Homologous recombination	breast cancer 2, early onset							49.0	53.0	51.0					13																	32906550		2203	4290	6493	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906550T>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.935T>G	13.37:g.32906550T>G	ENSP00000369497:p.Phe312Cys	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.F312C	p.F312C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1162	+		Lung SC(185;0.0262)	312					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.935T>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358848	0.24598	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00958	5.5;5.5	5.47	1.43	0.22495	.	0.741151	0.12470	N	0.466064	T	0.01287	0.0042	L	0.38175	1.15	0.09310	N	1	D;B	0.59357	0.985;0.013	P;B	0.49999	0.628;0.007	T	0.53049	-0.8493	10	0.42905	T	0.14	.	3.298	0.06973	0.4065:0.1647:0.0:0.4288	.	312;312	P51587;A1YBP1	BRCA2_HUMAN;.	C	312;312;310	ENSP00000369497:F312C;ENSP00000439902:F312C	ENSP00000369497:F312C	F	+	2	0	BRCA2	31804550	0.001000	0.12720	0.402000	0.26371	0.277000	0.26821	0.440000	0.21592	0.359000	0.24239	-0.490000	0.04691	TTT		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		53	103	0	0	0	1	0	53	103				
FREM2	341640	broad.mit.edu	37	13	39425231	39425231	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:39425231G>C	ENST00000280481.7	+	10	6944	c.6728G>C	c.(6727-6729)cGa>cCa	p.R2243P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2243	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATAAGGATCCGAGATGATGCT	0.423																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6727-6729)cGa>cCa		FRAS1 related extracellular matrix protein 2							69.0	64.0	65.0					13																	39425231		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425231G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6728G>C	13.37:g.39425231G>C	ENSP00000280481:p.Arg2243Pro						p.R2243P	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	6944	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2243			Calx-beta 5.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6728G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065831	0.36470	.	.	ENSG00000150893	ENST00000280481	T	0.27256	1.68	5.81	-7.38	0.01407	Na-Ca exchanger/integrin-beta4 (2);	0.698819	0.14600	N	0.309691	T	0.17238	0.0414	L	0.43152	1.355	0.09310	N	0.999997	P;P	0.40250	0.709;0.501	B;B	0.39465	0.267;0.3	T	0.03587	-1.1022	10	0.45353	T	0.12	.	9.8273	0.40919	0.6509:0.0:0.1698:0.1793	.	2243;2243	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	P	2243	ENSP00000280481:R2243P	ENSP00000280481:R2243P	R	+	2	0	FREM2	38323231	0.000000	0.05858	0.062000	0.19696	0.903000	0.53119	-1.700000	0.01905	-2.257000	0.00695	-0.119000	0.15052	CGA		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		11	89	0	0	0	1	0	11	89				
PNPLA4	8228	broad.mit.edu	37	X	7890081	7890081	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:7890081G>T	ENST00000381042.4	-	3	409	c.239C>A	c.(238-240)gCa>gAa	p.A80E	PNPLA4_ENST00000444736.1_Missense_Mutation_p.A80E|PNPLA4_ENST00000537427.1_5'UTR	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	80	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GGGCGTTACTGCCCCGAAAGA	0.408																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(238-240)gCa>gAa		patatin-like phospholipase domain containing 4							93.0	79.0	84.0					X																	7890081		2203	4299	6502	SO:0001583	missense	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7890081G>T	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.239C>A	X.37:g.7890081G>T	ENSP00000370430:p.Ala80Glu					PNPLA4_ENST00000537427.1_5'UTR|PNPLA4_ENST00000444736.1_Missense_Mutation_p.A80E	p.A80E	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			3	409	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	80			Patatin.		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.239C>A	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777538	0.49786	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000442940	T;T;T	0.77489	-1.1;-1.1;-1.1	4.59	3.71	0.42584	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.056202	0.64402	D	0.000001	D	0.86439	0.5933	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86897	0.2052	10	0.72032	D	0.01	-7.3871	12.7144	0.57107	0.0:0.1628:0.8371:0.0	.	80	P41247	PLPL4_HUMAN	E	80	ENSP00000370430:A80E;ENSP00000415245:A80E;ENSP00000406698:A80E	ENSP00000370430:A80E	A	-	2	0	PNPLA4	7850081	1.000000	0.71417	0.025000	0.17156	0.449000	0.32228	4.387000	0.59626	0.748000	0.32831	0.600000	0.82982	GCA		0.408	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		6	54	1	0	0.00198382	1	0.00203373	6	54				
BPTF	2186	broad.mit.edu	37	17	65909123	65909123	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:65909123A>G	ENST00000321892.4	+	13	5562	c.5501A>G	c.(5500-5502)tAt>tGt	p.Y1834C	BPTF_ENST00000335221.5_Missense_Mutation_p.Y1834C|BPTF_ENST00000424123.3_Missense_Mutation_p.Y1695C|BPTF_ENST00000306378.6_Missense_Mutation_p.Y1708C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1834					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGCCATCCTATAGAAAATTT	0.408																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5500-5502)tAt>tGt		bromodomain PHD finger transcription factor							79.0	77.0	78.0					17																	65909123		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65909123A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5501A>G	17.37:g.65909123A>G	ENSP00000315454:p.Tyr1834Cys					BPTF_ENST00000306378.6_Missense_Mutation_p.Y1708C|BPTF_ENST00000335221.5_Missense_Mutation_p.Y1834C|BPTF_ENST00000424123.3_Missense_Mutation_p.Y1695C	p.Y1834C			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	5562	+	all_cancers(12;6e-11)		1834					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5501A>G		.	.	.	.	.	.	.	.	.	.	A	13.16	2.153493	0.38021	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63580	-0.05;-0.03;-0.03	5.67	5.67	0.87782	.	.	.	.	.	T	0.68357	0.2992	L	0.34521	1.04	0.58432	D	0.999997	P;D	0.89917	0.468;1.0	P;D	0.87578	0.619;0.998	T	0.66496	-0.5909	9	0.33940	T	0.23	-10.098	12.4237	0.55534	0.8744:0.0:0.0:0.1256	.	1708;1834	Q12830-2;Q12830-4	.;.	C	1708;1834;1834	ENSP00000307208:Y1708C;ENSP00000334351:Y1834C;ENSP00000315454:Y1834C	ENSP00000307208:Y1708C	Y	+	2	0	BPTF	63339585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.462000	0.80851	2.285000	0.76669	0.528000	0.53228	TAT		0.408	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		17	81	0	0	0	1	0	17	81				
MAGEC1	9947	broad.mit.edu	37	X	140996369	140996369	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:140996369C>A	ENST00000285879.4	+	4	3465	c.3179C>A	c.(3178-3180)cCc>cAc	p.P1060H	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P127H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1060	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGAGGTGCCCAACTCTTCT	0.517										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3178-3180)cCc>cAc		melanoma antigen family C, 1							113.0	107.0	109.0					X																	140996369		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996369C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3179C>A	X.37:g.140996369C>A	ENSP00000285879:p.Pro1060His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.P127H	p.P1060H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3465	+	Acute lymphoblastic leukemia(192;6.56e-05)		1060			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3179C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	7.908	0.735930	0.15574	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.06294	3.32;3.32	0.837	0.837	0.18896	.	.	.	.	.	T	0.28665	0.0710	M	0.92833	3.35	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.03193	-1.1062	8	0.72032	D	0.01	.	.	.	.	.	1060	O60732	MAGC1_HUMAN	H	1060;127	ENSP00000285879:P1060H;ENSP00000385500:P127H	ENSP00000285879:P1060H	P	+	2	0	MAGEC1	140824035	0.413000	0.25400	0.027000	0.17364	0.155000	0.21991	0.331000	0.19733	0.696000	0.31696	0.279000	0.19357	CCC		0.517	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		27	176	1	0	1.1804e-14	1	1.32237e-14	27	176				
GCC2	9648	broad.mit.edu	37	2	109099602	109099602	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:109099602G>C	ENST00000309863.6	+	12	4144	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1144					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCATGCAAGAATTAGAGCT	0.313																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3430-3432)Gaa>Caa		GRIP and coiled-coil domain containing 2							71.0	69.0	69.0					2																	109099602		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109099602G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3430G>C	2.37:g.109099602G>C	ENSP00000307939:p.Glu1144Gln						p.E1144Q	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			12	4144	+			1144					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3430G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659754	0.67586	.	.	ENSG00000135968	ENST00000309863	T	0.35973	1.28	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.69823	2.125	0.58432	D	0.999997	P	0.35192	0.489	B	0.36608	0.229	T	0.40478	-0.9561	10	0.42905	T	0.14	.	19.2519	0.93929	0.0:0.0:1.0:0.0	.	1144	Q8IWJ2	GCC2_HUMAN	Q	1144	ENSP00000307939:E1144Q	ENSP00000307939:E1144Q	E	+	1	0	GCC2	108466034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.386000	0.79775	2.559000	0.86315	0.484000	0.47621	GAA		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		17	48	0	0	0	1	0	17	48				
PSTPIP2	9050	broad.mit.edu	37	18	43604625	43604625	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:43604625T>A	ENST00000409746.5	-	3	233	c.162A>T	c.(160-162)aaA>aaT	p.K54N	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.K54N	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	54	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.					cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGAGCAGATCTTTGCCATACC	0.458																																						ENST00000409746.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						c.(160-162)aaA>aaT		proline-serine-threonine phosphatase interacting protein 2							161.0	160.0	160.0					18																	43604625		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43604625T>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.162A>T	18.37:g.43604625T>A	ENSP00000387261:p.Lys54Asn					PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.K54N	p.K54N	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN			3	233	-			54			FCH.			Missense_Mutation	SNP	ENST00000409746.5	37	c.162A>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062400	0.55432	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.55413	0.52	6.01	3.68	0.42216	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.89095	3.005	0.44395	D	0.997309	B;B	0.25772	0.087;0.134	B;B	0.37888	0.065;0.26	T	0.64655	-0.6356	10	0.87932	D	0	-12.7247	6.8022	0.23758	0.0:0.1756:0.0:0.8244	.	54;54	Q9H939-2;Q9H939	.;PPIP2_HUMAN	N	54	ENSP00000387261:K54N	ENSP00000353189:K54N	K	-	3	2	PSTPIP2	41858623	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	0.665000	0.25083	1.106000	0.41623	0.533000	0.62120	AAA		0.458	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			5	242	0	0	0	1	0	5	242				
OR51F2	119694	broad.mit.edu	37	11	4843569	4843569	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:4843569C>G	ENST00000322110.5	+	1	1019	c.954C>G	c.(952-954)atC>atG	p.I318M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I318I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCATTATCAAGGTCTTAA	0.363																																						ENST00000322110.5																			1	Substitution - coding silent(1)	p.I318I(1)	lung(1)	breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(952-954)atC>atG		olfactory receptor, family 51, subfamily F, member 2							112.0	113.0	113.0					11																	4843569		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843569C>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.954C>G	11.37:g.4843569C>G	ENSP00000323952:p.Ile318Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.I318M	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1019	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	318					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.954C>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169487	0.09339	.	.	ENSG00000176925	ENST00000322110	T	0.37752	1.18	4.71	1.5	0.22942	.	0.890101	0.09188	U	0.836446	T	0.27900	0.0687	L	0.41236	1.265	0.22996	N	0.998456	B	0.12630	0.006	B	0.06405	0.002	T	0.29427	-1.0012	10	0.66056	D	0.02	.	5.6404	0.17561	0.1425:0.6358:0.1388:0.0829	.	318	Q8NH61	O51F2_HUMAN	M	318	ENSP00000323952:I318M	ENSP00000323952:I318M	I	+	3	3	OR51F2	4800145	0.009000	0.17119	0.569000	0.28460	0.382000	0.30200	0.878000	0.28126	0.665000	0.31066	0.561000	0.74099	ATC		0.363	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		20	148	0	0	0	1	0	20	148				
NEDD9	4739	broad.mit.edu	37	6	11190781	11190781	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:11190781T>C	ENST00000379446.5	-	5	1487	c.1321A>G	c.(1321-1323)Atg>Gtg	p.M441V	NEDD9_ENST00000504387.1_Missense_Mutation_p.M441V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	441					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTTTCCATATATCCGTAA	0.522																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1321-1323)Atg>Gtg		neural precursor cell expressed, developmentally down-regulated 9							73.0	69.0	70.0					6																	11190781		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190781T>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1321A>G	6.37:g.11190781T>C	ENSP00000368759:p.Met441Val					RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.M441V	p.M441V	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1487	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	441					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.1321A>G	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581557	0.46006	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.24151	1.87;1.87	5.92	5.92	0.95590	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.978;0.982;1.0	P;P;D	0.83275	0.798;0.818;0.996	T	0.27157	-1.0082	10	0.54805	T	0.06	-35.3092	16.3662	0.83325	0.0:0.0:0.0:1.0	.	441;441;441	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	V	441	ENSP00000368759:M441V;ENSP00000422871:M441V	ENSP00000368759:M441V	M	-	1	0	NEDD9	11298767	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.903000	0.69877	2.274000	0.75844	0.533000	0.62120	ATG		0.522	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		12	42	0	0	0	1	0	12	42				
WDR66	144406	broad.mit.edu	37	12	122396334	122396334	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:122396334G>T	ENST00000288912.4	+	12	2741	c.1887G>T	c.(1885-1887)atG>atT	p.M629I	WDR66_ENST00000397454.2_Missense_Mutation_p.M629I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	629							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTGTGGGATGATCAAAGTGT	0.458																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1885-1887)atG>atT		WD repeat domain 66							210.0	204.0	205.0					12																	122396334		1897	4125	6022	SO:0001583	missense	144406						calcium ion binding	g.chr12:122396334G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1887G>T	12.37:g.122396334G>T	ENSP00000288912:p.Met629Ile					WDR66_ENST00000397454.2_Missense_Mutation_p.M629I	p.M629I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	12	2741	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		629					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1887G>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940449	0.18281	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.59502	0.26;0.26	5.26	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.525534	0.23824	N	0.044212	T	0.32346	0.0826	N	0.14661	0.345	0.25927	N	0.983044	B	0.11235	0.004	B	0.08055	0.003	T	0.12243	-1.0555	10	0.20519	T	0.43	.	3.6588	0.08230	0.1446:0.1302:0.5914:0.1338	.	629	Q8TBY9	WDR66_HUMAN	I	629	ENSP00000288912:M629I;ENSP00000380595:M629I	ENSP00000288912:M629I	M	+	3	0	WDR66	120880717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.580000	0.36547	0.563000	0.29222	0.555000	0.69702	ATG		0.458	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		6	246	1	0	0.0215528	1	0.0216858	6	246				
KCNH1	3756	broad.mit.edu	37	1	210856679	210856679	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:210856679C>G	ENST00000271751.4	-	11	2941	c.2914G>C	c.(2914-2916)Gaa>Caa	p.E972Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.E945Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	972					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCGATATTTCAAACAACTCC	0.433																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2833-2835)Gaa>Caa		potassium voltage-gated channel, subfamily H (eag-related), member 1							91.0	98.0	96.0					1																	210856679		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210856679C>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2914G>C	1.37:g.210856679C>G	ENSP00000271751:p.Glu972Gln					KCNH1_ENST00000271751.4_Missense_Mutation_p.E972Q	p.E945Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	3002	-			972			CAD (involved in subunit assembly) (By similarity).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2833G>C	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031559	0.35797	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98889	-5.17;-5.21	5.07	5.07	0.68467	.	0.146892	0.64402	D	0.000010	D	0.95398	0.8506	N	0.19112	0.55	0.38366	D	0.944744	B;B	0.14012	0.009;0.005	B;B	0.12837	0.008;0.008	D	0.93564	0.6898	10	0.34782	T	0.22	.	11.8907	0.52628	0.0:0.9202:0.0:0.0798	.	945;972	Q14CL3;O95259	.;KCNH1_HUMAN	Q	972;945	ENSP00000271751:E972Q;ENSP00000355974:E945Q	ENSP00000271751:E972Q	E	-	1	0	KCNH1	208923302	1.000000	0.71417	0.799000	0.32177	0.990000	0.78478	3.590000	0.53979	2.360000	0.80028	0.655000	0.94253	GAA		0.433	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		16	169	0	0	0	1	0	16	169				
ZNF226	7769	broad.mit.edu	37	19	44680026	44680026	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:44680026A>G	ENST00000590089.1	+	7	978	c.611A>G	c.(610-612)gAt>gGt	p.D204G	ZNF226_ENST00000337433.5_Missense_Mutation_p.D204G|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.D204G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				AAGGGTGTTGATCCCATCGGT	0.343																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(610-612)gAt>gGt		zinc finger protein 226							60.0	59.0	60.0					19																	44680026		1844	4093	5937	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680026A>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.611A>G	19.37:g.44680026A>G	ENSP00000465121:p.Asp204Gly					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.D204G|ZNF226_ENST00000454662.2_Missense_Mutation_p.D204G	p.D204G			Q9NYT6	ZN226_HUMAN			7	978	+		Prostate(69;0.0352)|all_neural(266;0.202)	204					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.611A>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	A	9.680	1.149113	0.21288	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08984	3.03;3.03	3.39	3.39	0.38822	.	.	.	.	.	T	0.06188	0.0160	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.17433	0.018	T	0.24476	-1.0159	9	0.66056	D	0.02	.	8.2909	0.31956	0.7996:0.2004:0.0:0.0	.	204	Q9NYT6	ZN226_HUMAN	G	204	ENSP00000336719:D204G;ENSP00000393265:D204G	ENSP00000336719:D204G	D	+	2	0	ZNF226	49371866	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.580000	0.23803	1.797000	0.52628	0.533000	0.62120	GAT		0.343	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			8	79	0	0	0	1	0	8	79				
LOC100130331	100130331	broad.mit.edu	37	1	238090596	238090596	+	RNA	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:238090596G>A	ENST00000450451.1	+	0	2102					NR_027247.2																						AGGGACTCTGGAGATGGGGTC	0.617																																						ENST00000450451.1																			0																																																			100130331							g.chr1:238090596G>A																													1.37:g.238090596G>A								NR_027247.2						0	2102	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.617	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			8	47	0	0	0	1	0	8	47				
DTYMK	1841	broad.mit.edu	37	2	242617876	242617876	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:242617876C>T	ENST00000305784.2	-	4	726	c.519G>A	c.(517-519)ttG>ttA	p.L173L		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	173					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCTTCCAGTTCAAAGTCGTGT	0.572																																						ENST00000305784.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(517-519)ttG>ttA		deoxythymidylate kinase (thymidylate kinase)							100.0	96.0	97.0					2																	242617876		2203	4296	6499	SO:0001819	synonymous_variant	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242617876C>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.519G>A	2.37:g.242617876C>T							p.L173L	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	726	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	173					B7ZW70|Q6FGX1|Q9BUX4	Silent	SNP	ENST00000305784.2	37	c.519G>A	CCDS2552.1	.	.	.	.	.	.	.	.	.	.	C	2.578	-0.298141	0.05532	.	.	ENSG00000168393	ENST00000445261	.	.	.	5.05	-0.414	0.12359	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48246	-0.9052	4	.	.	.	-10.8679	8.898	0.35476	0.0:0.3658:0.4409:0.1934	.	.	.	.	K	131	.	.	E	-	1	0	DTYMK	242266549	0.988000	0.35896	0.051000	0.19133	0.388000	0.30384	0.121000	0.15667	-0.056000	0.13221	0.655000	0.94253	GAA		0.572	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		17	139	0	0	0	1	0	17	139				
PCDHA3	56145	broad.mit.edu	37	5	140182668	140182668	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140182668G>C	ENST00000522353.2	+	1	1886	c.1886G>C	c.(1885-1887)gGa>gCa	p.G629A	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGGGAGAGATCAGC	0.657																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1885-1887)gGa>gCa									78.0	77.0	77.0					5																	140182668		2203	4299	6502	SO:0001583	missense	56145							g.chr5:140182668G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1886G>C	5.37:g.140182668G>C	ENSP00000429808:p.Gly629Ala					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629A|PCDHA2_ENST00000520672.2_Intron	p.G629A	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1886	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1886G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	17.60	3.429487	0.62844	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56103	0.48;0.48	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.000000	0.35805	U	0.002966	D	0.82426	0.5034	H	0.97962	4.115	0.45239	D	0.998248	D;D	0.76494	0.997;0.999	D;D	0.70016	0.957;0.967	D	0.90089	0.4176	10	0.87932	D	0	.	17.1531	0.86782	0.0:0.0:1.0:0.0	.	629;629	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	A	629	ENSP00000429808:G629A;ENSP00000434086:G629A	ENSP00000429808:G629A	G	+	2	0	PCDHA3	140162852	1.000000	0.71417	0.957000	0.39632	0.578000	0.36192	9.279000	0.95777	2.117000	0.64856	0.467000	0.42956	GGA		0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		10	96	0	0	0	1	0	10	96				
KCTD8	386617	broad.mit.edu	37	4	44177257	44177257	+	Silent	SNP	C	C	T	rs141348340		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:44177257C>T	ENST00000360029.3	-	2	1255	c.972G>A	c.(970-972)caG>caA	p.Q324Q		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	324					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATACTATTTTCTGAGGTGGTC	0.333										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(970-972)caG>caA		potassium channel tetramerization domain containing 8							70.0	68.0	69.0					4																	44177257		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177257C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.972G>A	4.37:g.44177257C>T		HNSCC(17;0.042)					p.Q324Q	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1255	-			324					A2RU39	Silent	SNP	ENST00000360029.3	37	c.972G>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	3.350	-0.132723	0.06711	.	.	ENSG00000183783	ENST00000515268	.	.	.	4.65	2.88	0.33553	.	.	.	.	.	T	0.60235	0.2253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55604	-0.8115	4	.	.	.	.	10.7678	0.46303	0.1483:0.709:0.1426:0.0	.	.	.	.	K	60	.	.	R	-	2	0	KCTD8	43872014	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.583000	0.36579	0.653000	0.30826	0.585000	0.79938	AGA		0.333	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	43	0	0	0	1	0	4	43				
MGA	23269	broad.mit.edu	37	15	42005443	42005443	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:42005443G>A	ENST00000570161.1	+	8	3179	c.3179G>A	c.(3178-3180)aGt>aAt	p.S1060N	MGA_ENST00000545763.1_Missense_Mutation_p.S1060N|MGA_ENST00000566586.1_Missense_Mutation_p.S1060N|MGA_ENST00000389936.4_Missense_Mutation_p.S1060N|MGA_ENST00000219905.7_Missense_Mutation_p.S1060N			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATGTTCCAGTCTAGCTTTG	0.463																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3178-3180)aGt>aAt		MGA, MAX dimerization protein							165.0	157.0	160.0					15																	42005443		1980	4148	6128	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42005443G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3179G>A	15.37:g.42005443G>A	ENSP00000457035:p.Ser1060Asn					MGA_ENST00000570161.1_Missense_Mutation_p.S1060N|MGA_ENST00000545763.1_Missense_Mutation_p.S1060N|MGA_ENST00000389936.4_Missense_Mutation_p.S1060N|MGA_ENST00000566586.1_Missense_Mutation_p.S1060N	p.S1060N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	9	3360	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1060					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3179G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364475	0.95877	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18174	2.23;2.23;2.23	5.75	5.75	0.90469	.	0.181162	0.56097	D	0.000026	T	0.35008	0.0917	L	0.34521	1.04	0.50813	D	0.999894	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.99	T	0.04103	-1.0977	10	0.87932	D	0	.	19.9433	0.97172	0.0:0.0:1.0:0.0	.	1060;1060	F5H7K2;E7ENI0	.;.	N	1060	ENSP00000219905:S1060N;ENSP00000374586:S1060N;ENSP00000442467:S1060N	ENSP00000219905:S1060N	S	+	2	0	MGA	39792735	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.252000	0.95491	2.716000	0.92895	0.655000	0.94253	AGT		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		16	136	0	0	0	1	0	16	136				
CSMD3	114788	broad.mit.edu	37	8	113988224	113988224	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:113988224C>T	ENST00000297405.5	-	7	1428	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R395Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R355Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	395						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTTGCACTCGCTGTTCCTC	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1183-1185)cGa>cAa		CUB and Sushi multiple domains 3							217.0	189.0	198.0					8																	113988224		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988224C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1184G>A	8.37:g.113988224C>T	ENSP00000297405:p.Arg395Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R355Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R395Q	p.R395Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1428	-			395					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1184G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223892	0.58668	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.19105	2.18;2.17;2.19	6.17	6.17	0.99709	.	0.301150	0.21846	N	0.068245	T	0.13372	0.0324	N	0.22421	0.69	0.28057	N	0.933112	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.21008	-1.0258	10	0.11794	T	0.64	.	11.3746	0.49719	0.0:0.8067:0.1264:0.0669	.	395;355	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	Q	355;395;395	ENSP00000345799:R355Q;ENSP00000297405:R395Q;ENSP00000343124:R395Q	ENSP00000297405:R395Q	R	-	2	0	CSMD3	114057400	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.094000	0.30951	2.941000	0.99782	0.655000	0.94253	CGA		0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	193	0	0	0	1	0	15	193				
PTGFRN	5738	broad.mit.edu	37	1	117509829	117509829	+	Missense_Mutation	SNP	C	C	G	rs140095202		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117509829C>G	ENST00000393203.2	+	6	2083	c.1936C>G	c.(1936-1938)Cag>Gag	p.Q646E	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	646	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTACCAGACTCAGGTCTCAGA	0.537																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1936-1938)Cag>Gag		prostaglandin F2 receptor inhibitor		C	GLU/GLN	0,4406		0,0,2203	124.0	120.0	121.0		1936	5.4	1.0	1	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTGFRN	NM_020440.2	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	646/880	117509829	1,13005	2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117509829C>G	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1936C>G	1.37:g.117509829C>G	ENSP00000376899:p.Gln646Glu					PTGFRN_ENST00000496699.1_3'UTR	p.Q646E	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	6	2083	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	646			Ig-like C2-type 5.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1936C>G	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450124	0.84101	0.0	1.16E-4	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.11277	2.79	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	L	0.45581	1.43	0.58432	D	0.999997	D	0.71674	0.998	D	0.66716	0.946	T	0.02639	-1.1130	10	0.02654	T	1	-20.744	17.0688	0.86567	0.0:1.0:0.0:0.0	.	646	Q9P2B2	FPRP_HUMAN	E	646;505	ENSP00000376899:Q646E	ENSP00000376899:Q646E	Q	+	1	0	PTGFRN	117311352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.546000	0.60705	2.700000	0.92200	0.650000	0.86243	CAG		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		7	103	0	0	0	1	0	7	103				
KLHL38	340359	broad.mit.edu	37	8	124658219	124658219	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:124658219G>C	ENST00000325995.7	-	3	1529	c.1506C>G	c.(1504-1506)gtC>gtG	p.V502V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	502										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCGCACATTTGACAAATTTGT	0.522																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1504-1506)gtC>gtG		kelch-like family member 38							79.0	83.0	82.0					8																	124658219		2070	4230	6300	SO:0001819	synonymous_variant	340359							g.chr8:124658219G>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1506C>G	8.37:g.124658219G>C						CTD-2552K11.2_ENST00000524355.1_RNA	p.V502V	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			3	1529	-			502					A0PK12	Silent	SNP	ENST00000325995.7	37	c.1506C>G	CCDS43766.1																																																																																				0.522	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			9	127	0	0	0	1	0	9	127				
DOCK6	57572	broad.mit.edu	37	19	11353808	11353808	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:11353808G>A	ENST00000294618.7	-	13	1418	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	469					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGAGGTCCTCGTCACTGAGTC	0.647											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gaC>gaT		dedicator of cytokinesis 6							68.0	75.0	73.0					19																	11353808		2070	4203	6273	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11353808G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1407C>T	19.37:g.11353808G>A			OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671		p.D469D	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			13	1418	-			469					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.1407C>T	CCDS45975.1																																																																																				0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		11	68	0	0	0	1	0	11	68				
RAB4B	53916	broad.mit.edu	37	19	41292772	41292772	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41292772G>A	ENST00000594800.1	+	7	706	c.546G>A	c.(544-546)agG>agA	p.R182R	RAB4B-EGLN2_ENST00000594136.1_Silent_p.R182R|RAB4B_ENST00000357052.2_Silent_p.R182R|RAB4B-EGLN2_ENST00000601949.1_3'UTR			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	182					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCCGGAGAGGATGGGCTCTG	0.701																																						ENST00000594136.1																			0											c.(544-546)agG>agA									61.0	58.0	59.0					19																	41292772		2203	4300	6503	SO:0001819	synonymous_variant	100529264							g.chr19:41292772G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.546G>A	19.37:g.41292772G>A						RAB4B_ENST00000357052.2_Silent_p.R182R|RAB4B_ENST00000594800.1_Silent_p.R182R|RAB4B-EGLN2_ENST00000601949.1_3'UTR	p.R182R							7	651	+								P22750|Q7Z514|Q9HBR6	Silent	SNP	ENST00000594800.1	37	c.546G>A	CCDS33030.1																																																																																				0.701	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		9	82	0	0	0	1	0	9	82				
ZHX1	11244	broad.mit.edu	37	8	124267752	124267752	+	Silent	SNP	T	T	C	rs370578645		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:124267752T>C	ENST00000522655.1	-	3	975	c.435A>G	c.(433-435)gaA>gaG	p.E145E	ZHX1_ENST00000297857.2_Silent_p.E145E|ZHX1_ENST00000395571.3_Silent_p.E145E|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	145					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTATTGTTTGTTCAAAGATTG	0.348																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(433-435)gaA>gaG		zinc fingers and homeoboxes 1							104.0	99.0	101.0					8																	124267752		2203	4299	6502	SO:0001819	synonymous_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267752T>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.435A>G	8.37:g.124267752T>C						ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.E145E|ZHX1_ENST00000297857.2_Silent_p.E145E	p.E145E	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1052	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		145					Q8IWD8	Silent	SNP	ENST00000522655.1	37	c.435A>G	CCDS6342.1																																																																																				0.348	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			35	175	0	0	0	1	0	35	175				
RAD50	10111	broad.mit.edu	37	5	131931469	131931469	+	Missense_Mutation	SNP	G	G	T	rs372808845		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:131931469G>T	ENST00000265335.6	+	13	2561	c.2174G>T	c.(2173-2175)cGg>cTg	p.R725L	RAD50_ENST00000378823.3_Missense_Mutation_p.R586L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	725	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAAAAGCGGCGTGATGAA	0.428								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1756-1758)cGg>cTg	Homologous recombination	RAD50 homolog (S. cerevisiae)							73.0	71.0	72.0					5																	131931469		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131931469G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2174G>T	5.37:g.131931469G>T	ENSP00000265335:p.Arg725Leu					RAD50_ENST00000265335.6_Missense_Mutation_p.R725L	p.R586L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2575	+		all_cancers(142;0.0368)|Breast(839;0.198)	725					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1757G>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558322	0.65538	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.42131	0.98;0.98	6.07	6.07	0.98685	Zinc hook, Rad50 (1);	0.158494	0.53938	D	0.000042	T	0.31451	0.0797	L	0.27053	0.805	0.46499	D	0.99907	B	0.19073	0.033	B	0.15870	0.014	T	0.05053	-1.0909	10	0.29301	T	0.29	-0.4155	14.2203	0.65823	0.0761:0.0:0.9239:0.0	.	725	Q92878	RAD50_HUMAN	L	586;725	ENSP00000368100:R586L;ENSP00000265335:R725L	ENSP00000265335:R725L	R	+	2	0	RAD50	131959368	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.438000	0.52871	2.885000	0.99019	0.655000	0.94253	CGG		0.428	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		13	111	1	0	5.50884e-06	1	5.86889e-06	13	111				
SMG8	55181	broad.mit.edu	37	17	57288997	57288997	+	Missense_Mutation	SNP	G	G	T	rs200723687		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:57288997G>T	ENST00000543872.2	+	2	1849	c.1585G>T	c.(1585-1587)Gcc>Tcc	p.A529S	SMG8_ENST00000578922.1_Missense_Mutation_p.A529S|SMG8_ENST00000300917.5_Missense_Mutation_p.A529S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	529					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAATCAGCTTGCCCAGGCTCT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19792	0.0		0.001	False		,,,				2504	0.0					ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1585-1587)Gcc>Tcc		SMG8 nonsense mediated mRNA decay factor		G	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	83.0	75.0	78.0		1585	5.8	1.0	17		78	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SMG8	NM_018149.6	99	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	probably-damaging	529/992	57288997	2,13004	2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288997G>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1585G>T	17.37:g.57288997G>T	ENSP00000438748:p.Ala529Ser					SMG8_ENST00000578922.1_Missense_Mutation_p.A529S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.A529S|SMG8_ENST00000580498.1_Intron	p.A529S			Q8ND04	SMG8_HUMAN			2	1849	+			529					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1585G>T	CCDS11615.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.09	3.547050	0.65198	2.27E-4	1.16E-4	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.47528	0.84;0.84	5.75	5.75	0.90469	.	0.044434	0.85682	D	0.000000	T	0.50292	0.1607	L	0.54323	1.7	0.80722	D	1	P	0.47409	0.895	B	0.43623	0.425	T	0.51411	-0.8709	10	0.49607	T	0.09	-12.0489	18.9389	0.92597	0.0:0.0:1.0:0.0	.	529	Q8ND04	SMG8_HUMAN	S	529	ENSP00000300917:A529S;ENSP00000438748:A529S	ENSP00000300917:A529S	A	+	1	0	SMG8	54643779	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	8.006000	0.88564	2.705000	0.92388	0.655000	0.94253	GCC		0.453	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		14	91	1	0	2.23348e-06	1	2.39512e-06	14	91				
FCER1A	2205	broad.mit.edu	37	1	159272207	159272207	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:159272207T>C	ENST00000368115.1	+	2	152	c.53T>C	c.(52-54)tTc>tCc	p.F18S	FCER1A_ENST00000368114.1_Missense_Mutation_p.F18S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	18					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTACTGTTCTTCGGTAAGTAG	0.502																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(52-54)tTc>tCc		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						166.0	160.0	162.0					1																	159272207		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159272207T>C	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.53T>C	1.37:g.159272207T>C	ENSP00000357097:p.Phe18Ser					FCER1A_ENST00000368114.1_Missense_Mutation_p.F18S	p.F18S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			2	152	+	all_hematologic(112;0.0429)		18						Missense_Mutation	SNP	ENST00000368115.1	37	c.53T>C	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	T	9.565	1.119492	0.20877	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.07114	4.91;3.22	4.6	2.12	0.27331	.	1.593530	0.03844	N	0.271202	T	0.00936	0.0031	N	0.01576	-0.805	0.09310	N	1	P	0.38827	0.649	B	0.32211	0.142	T	0.23332	-1.0191	10	0.87932	D	0	.	4.283	0.10841	0.0:0.105:0.2052:0.6897	.	18	P12319	FCERA_HUMAN	S	18	ENSP00000357097:F18S;ENSP00000357096:F18S	ENSP00000357096:F18S	F	+	2	0	FCER1A	157538831	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.307000	0.19296	0.908000	0.36671	0.528000	0.53228	TTC		0.502	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		21	224	0	0	0	1	0	21	224				
MYH4	4622	broad.mit.edu	37	17	10364348	10364348	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:10364348G>T	ENST00000255381.2	-	12	1142	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	344	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCAGCAGTGAAACCCAGGA	0.488																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1030-1032)ttC>ttA		myosin, heavy chain 4, skeletal muscle							155.0	133.0	140.0					17																	10364348		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10364348G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1032C>A	17.37:g.10364348G>T	ENSP00000255381:p.Phe344Leu					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.F344L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			12	1142	-			344			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1032C>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529609	0.85706	.	.	ENSG00000141048	ENST00000255381	D	0.86865	-2.18	5.49	4.52	0.55395	Myosin head, motor domain (2);	0.000000	0.39341	U	0.001381	D	0.93546	0.7940	M	0.85630	2.765	0.53688	D	0.999976	D	0.62365	0.991	D	0.71870	0.975	D	0.94521	0.7727	10	0.87932	D	0	.	14.7416	0.69461	0.0701:0.0:0.9299:0.0	.	344	Q9Y623	MYH4_HUMAN	L	344	ENSP00000255381:F344L	ENSP00000255381:F344L	F	-	3	2	MYH4	10305073	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	1.572000	0.36461	1.442000	0.47568	0.650000	0.86243	TTC		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		13	80	1	0	0.00185496	1	0.00190762	13	80				
LRRK2	120892	broad.mit.edu	37	12	40745477	40745477	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:40745477A>C	ENST00000298910.7	+	44	6576	c.6518A>C	c.(6517-6519)cAc>cCc	p.H2173P		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2173					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTGTGGGCACACCGACAGA	0.398																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(6517-6519)cAc>cCc		leucine-rich repeat kinase 2							83.0	87.0	86.0					12																	40745477		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40745477A>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6518A>C	12.37:g.40745477A>C	ENSP00000298910:p.His2173Pro						p.H2173P	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			44	6576	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2173					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6518A>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.321823	0.23994	.	.	ENSG00000188906	ENST00000298910	T	0.70986	-0.53	6.06	3.62	0.41486	.	0.250056	0.52532	N	0.000066	T	0.50274	0.1606	N	0.22421	0.69	0.22305	N	0.999212	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.33624	-0.9861	10	0.33940	T	0.23	.	4.0818	0.09929	0.6712:0.1344:0.0664:0.128	.	2173;2173	Q17RV3;Q5S007	.;LRRK2_HUMAN	P	2173	ENSP00000298910:H2173P	ENSP00000298910:H2173P	H	+	2	0	LRRK2	39031744	0.561000	0.26578	0.164000	0.22755	0.779000	0.44077	1.741000	0.38238	0.473000	0.27368	0.533000	0.62120	CAC		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	50	0	0	0	1	0	4	50				
GBP5	115362	broad.mit.edu	37	1	89729504	89729504	+	Missense_Mutation	SNP	G	G	C	rs141794180		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89729504G>C	ENST00000370459.3	-	8	1404	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	GBP5_ENST00000343435.5_Missense_Mutation_p.S426C|GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	426						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCTGGCTTAGAATAAATTCC	0.423																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1276-1278)tCt>tGt		guanylate binding protein 5							178.0	180.0	179.0					1																	89729504		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729504G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1277C>G	1.37:g.89729504G>C	ENSP00000359488:p.Ser426Cys					GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.S426C	p.S426C	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1813	-			426					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1277C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	g	13.51	2.257955	0.39896	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.56444	0.46;0.46;0.46	4.94	0.709	0.18150	Guanylate-binding protein, C-terminal (3);	1.289780	0.05000	N	0.468820	T	0.49372	0.1553	M	0.72624	2.21	0.09310	N	1	D	0.69078	0.997	D	0.63113	0.911	T	0.13388	-1.0511	10	0.51188	T	0.08	0.9684	3.4109	0.07357	0.0792:0.272:0.3697:0.2791	.	426	Q96PP8	GBP5_HUMAN	C	426	ENSP00000340396:S426C;ENSP00000359488:S426C;ENSP00000403010:S426C	ENSP00000340396:S426C	S	-	2	0	GBP5	89502092	0.001000	0.12720	0.013000	0.15412	0.600000	0.36913	-0.140000	0.10342	0.063000	0.16370	-0.229000	0.12294	TCT		0.423	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		22	231	0	0	0	1	0	22	231				
PIK3R4	30849	broad.mit.edu	37	3	130409457	130409457	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:130409457G>A	ENST00000356763.3	-	14	3697	c.3140C>T	c.(3139-3141)aCg>aTg	p.T1047M	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1047					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAATGTGAGCGTCTTGACTCG	0.403																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3139-3141)aCg>aTg		phosphoinositide-3-kinase, regulatory subunit 4							111.0	105.0	107.0					3																	130409457		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130409457G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3140C>T	3.37:g.130409457G>A	ENSP00000349205:p.Thr1047Met					PIK3R4_ENST00000512677.1_5'UTR	p.T1047M	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			14	3697	-			1047					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.3140C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871461	0.91587	.	.	ENSG00000196455	ENST00000356763	T	0.01359	4.98	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155075	0.56097	D	0.000027	T	0.03220	0.0094	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	P	0.55112	0.769	T	0.62996	-0.6735	10	0.62326	D	0.03	-18.6248	18.4155	0.90568	0.0:0.0:1.0:0.0	.	1047	Q99570	PI3R4_HUMAN	M	1047	ENSP00000349205:T1047M	ENSP00000349205:T1047M	T	-	2	0	PIK3R4	131892147	1.000000	0.71417	0.940000	0.37924	0.977000	0.68977	9.577000	0.98196	2.357000	0.79964	0.462000	0.41574	ACG		0.403	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		9	67	0	0	0	1	0	9	67				
LUC7L3	51747	broad.mit.edu	37	17	48827910	48827910	+	Missense_Mutation	SNP	G	G	A	rs144920769		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:48827910G>A	ENST00000505658.1	+	10	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	LUC7L3_ENST00000240304.1_Missense_Mutation_p.R396Q|LUC7L3_ENST00000544170.1_Missense_Mutation_p.R320Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R396Q			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	396					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TCCGGTAGTCGAGAAAAGCAG	0.373																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(1186-1188)cGa>cAa		LUC7-like 3 (S. cerevisiae)		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	161.0	158.0	159.0		1187,1187	5.9	1.0	17	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUC7L3	NM_006107.3,NM_016424.4	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	396/433,396/433	48827910	1,13005	2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48827910G>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1187G>A	17.37:g.48827910G>A	ENSP00000425092:p.Arg396Gln					LUC7L3_ENST00000544170.1_Missense_Mutation_p.R320Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R396Q|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R396Q	p.R396Q			O95232	LC7L3_HUMAN			10	1376	+			396					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.1187G>A	CCDS11573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.198920|5.198920	0.94997|0.94997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000108848|ENSG00000108848	ENST00000503728|ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	.|T;T;T;T	.|0.29655	.|1.56;1.93;1.56;1.56	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.279508	.|0.35615	.|N	.|0.003089	T|T	0.23410|0.23410	0.0566|0.0566	N|N	0.19112|0.19112	0.55|0.55	0.43930|0.43930	D|D	0.996589|0.996589	.|P;D;D	.|0.59767	.|0.896;0.986;0.986	.|B;B;B	.|0.39339	.|0.194;0.297;0.297	T|T	0.01834|0.01834	-1.1264|-1.1264	5|10	.|0.39692	.|T	.|0.17	-4.3993|-4.3993	20.3697|20.3697	0.98890|0.98890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|320;396;396	.|B4DJ96;O95232;A8K3C5	.|.;LC7L3_HUMAN;.	K|Q	45|396;396;396;320	.|ENSP00000425092:R396Q;ENSP00000376919:R396Q;ENSP00000240304:R396Q;ENSP00000444253:R320Q	.|ENSP00000240304:R396Q	E|R	+|+	1|2	0|0	LUC7L3|LUC7L3	46182909|46182909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.071000|3.071000	0.50041|0.50041	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.373	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		7	110	0	0	0	1	0	7	110				
SESTD1	91404	broad.mit.edu	37	2	180036954	180036954	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:180036954C>A	ENST00000428443.3	-	5	578	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	88	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGCTGGAACAACATTCTAT	0.313																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(262-264)Gtt>Ttt		SEC14 and spectrin domains 1							78.0	81.0	80.0					2																	180036954		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180036954C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.262G>T	2.37:g.180036954C>A	ENSP00000415332:p.Val88Phe					SESTD1_ENST00000486468.1_5'UTR	p.V88F	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	578	-			88			CRAL-TRIO.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.262G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764912	0.31228	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	D;T;T	0.83673	-1.75;2.45;2.45	5.16	5.16	0.70880	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.053054	0.85682	D	0.000000	T	0.53834	0.1821	N	0.00065	-2.305	0.58432	D	0.999998	P	0.34587	0.458	B	0.40565	0.333	T	0.68250	-0.5458	9	.	.	.	-12.3424	18.6465	0.91411	0.0:1.0:0.0:0.0	.	88	Q86VW0	SESD1_HUMAN	F	88	ENSP00000415332:V88F;ENSP00000416164:V88F;ENSP00000410286:V88F	.	V	-	1	0	SESTD1	179745199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.603000	0.67619	2.403000	0.81681	0.561000	0.74099	GTT		0.313	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		15	200	1	0	2.48551e-13	1	2.77491e-13	15	200				
CYP2A13	1553	broad.mit.edu	37	19	41600977	41600977	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41600977G>C	ENST00000330436.3	+	8	1275	c.1275G>C	c.(1273-1275)aaG>aaC	p.K425N		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	425					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	AGTTTAAGAAGAGTGATGCTT	0.577																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1273-1275)aaG>aaC		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						158.0	143.0	148.0					19																	41600977		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41600977G>C	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1275G>C	19.37:g.41600977G>C	ENSP00000332679:p.Lys425Asn						p.K425N	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			8	1275	+			425					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.1275G>C	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.455996	0.63401	.	.	ENSG00000197838	ENST00000330436	T	0.69306	-0.39	4.25	3.21	0.36854	.	0.000000	0.85682	U	0.000000	T	0.75087	0.3802	L	0.61387	1.9	0.31029	N	0.717657	D	0.76494	0.999	D	0.74348	0.983	T	0.74147	-0.3759	10	0.66056	D	0.02	.	7.5176	0.27610	0.2022:0.0:0.7978:0.0	.	425	Q16696	CP2AD_HUMAN	N	425	ENSP00000332679:K425N	ENSP00000332679:K425N	K	+	3	2	CYP2A13	46292817	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	2.420000	0.44679	1.014000	0.39417	0.485000	0.47835	AAG		0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		5	187	0	0	0	1	0	5	187				
C16orf78	123970	broad.mit.edu	37	16	49430357	49430357	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:49430357G>C	ENST00000299191.3	+	4	535	c.418G>C	c.(418-420)Gac>Cac	p.D140H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	140						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGATGCAGTCGACCCAGAGTC	0.517																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(418-420)Gac>Cac		chromosome 16 open reading frame 78							88.0	85.0	86.0					16																	49430357		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49430357G>C	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.418G>C	16.37:g.49430357G>C	ENSP00000299191:p.Asp140His						p.D140H	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			4	535	+			140						Missense_Mutation	SNP	ENST00000299191.3	37	c.418G>C	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507651	0.44558	.	.	ENSG00000166152	ENST00000299191	T	0.45276	0.9	5.38	-1.97	0.07503	.	0.748868	0.11933	N	0.515527	T	0.20210	0.0486	N	0.14661	0.345	0.09310	N	1	B	0.30709	0.291	B	0.33521	0.165	T	0.23013	-1.0200	9	.	.	.	-21.8407	3.4817	0.07605	0.3234:0.0:0.3747:0.3019	.	140	Q8WTQ4	CP078_HUMAN	H	140	ENSP00000299191:D140H	.	D	+	1	0	C16orf78	47987858	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.131000	0.10482	-0.160000	0.11002	-0.123000	0.14984	GAC		0.517	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		5	72	0	0	0	1	0	5	72				
ERCC3	2071	broad.mit.edu	37	2	128030455	128030455	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:128030455T>C	ENST00000285398.2	-	11	1907	c.1813A>G	c.(1813-1815)Atc>Gtc	p.I605V	ERCC3_ENST00000493187.2_Missense_Mutation_p.I541V	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	605	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GATATGAAGATGGTGTTAATT	0.483			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1621-1623)Atc>Gtc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							178.0	158.0	165.0					2																	128030455		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128030455T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1813A>G	2.37:g.128030455T>C	ENSP00000285398:p.Ile605Val					ERCC3_ENST00000285398.2_Missense_Mutation_p.I605V	p.I541V			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	11	2084	-	Colorectal(110;0.1)		605					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1621A>G	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486029	0.84854	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.74947	-0.89;-0.89	5.61	5.61	0.85477	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	L	0.61387	1.9	0.80722	D	1	P	0.49358	0.923	P	0.57548	0.823	T	0.82321	-0.0515	10	0.46703	T	0.11	-32.2162	15.8067	0.78520	0.0:0.0:0.0:1.0	.	605	P19447	ERCC3_HUMAN	V	605;541	ENSP00000285398:I605V;ENSP00000444796:I541V	ENSP00000285398:I605V	I	-	1	0	ERCC3	127746925	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.984000	0.88150	2.131000	0.65755	0.533000	0.62120	ATC		0.483	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		4	92	0	0	0	1	0	4	92				
USP31	57478	broad.mit.edu	37	16	23113727	23113727	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:23113727C>A	ENST00000219689.7	-	6	1146	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTTCCAGGTCGTCTGTATCA	0.408																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(1147-1149)Gac>Tac		ubiquitin specific peptidase 31							95.0	88.0	90.0					16																	23113727		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23113727C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1147G>T	16.37:g.23113727C>A	ENSP00000219689:p.Asp383Tyr						p.D383Y	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	6	1146	-			383					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1147G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616259	0.87359	.	.	ENSG00000103404	ENST00000219689	T	0.09538	2.97	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.057916	0.64402	D	0.000004	T	0.28896	0.0717	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00710	-1.1599	10	0.72032	D	0.01	-15.4461	18.0889	0.89468	0.0:1.0:0.0:0.0	.	383	Q70CQ4	UBP31_HUMAN	Y	383	ENSP00000219689:D383Y	ENSP00000219689:D383Y	D	-	1	0	USP31	23021228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	2.504000	0.84457	0.655000	0.94253	GAC		0.408	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		32	122	1	0	2.46105e-21	1	2.8151e-21	32	122				
ABCD4	5826	broad.mit.edu	37	14	74762564	74762564	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:74762564C>T	ENST00000356924.4	-	6	804	c.661G>A	c.(661-663)Gat>Aat	p.D221N	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.D134N	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	221	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CACCTAAAATCTCCCTCCAGC	0.488																																						ENST00000356924.4																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(661-663)Gat>Aat		ATP-binding cassette, sub-family D (ALD), member 4							89.0	82.0	84.0					14																	74762564		2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74762564C>T	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.661G>A	14.37:g.74762564C>T	ENSP00000349396:p.Asp221Asn					ABCD4_ENST00000298816.7_Missense_Mutation_p.D134N|ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000557554.1_Intron	p.D221N	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	6	804	-			221			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.661G>A	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518076	0.96416	.	.	ENSG00000119688	ENST00000356924;ENST00000298816	D;D	0.99652	-6.3;-3.46	5.46	5.46	0.80206	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.79693	2.465	0.80722	D	1	D;D;D	0.65815	0.994;0.995;0.977	P;D;D	0.67382	0.895;0.951;0.919	D	0.98810	1.0743	10	0.44086	T	0.13	.	19.3245	0.94256	0.0:1.0:0.0:0.0	.	134;221;221	F8W7M4;A8K5L7;O14678	.;.;ABCD4_HUMAN	N	221;134	ENSP00000349396:D221N;ENSP00000298816:D134N	ENSP00000298816:D134N	D	-	1	0	ABCD4	73832317	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.978000	0.70501	2.549000	0.85964	0.655000	0.94253	GAT		0.488	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		9	90	0	0	0	1	0	9	90				
MCM7	4176	broad.mit.edu	37	7	99693551	99693551	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:99693551G>A	ENST00000303887.5	-	11	2086	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.R305C|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	481	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGAGCAGCGGGCATTGAGT	0.632																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1441-1443)Cgc>Tgc		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						99.0	86.0	90.0					7																	99693551		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693551G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1441C>T	7.37:g.99693551G>A	ENSP00000307288:p.Arg481Cys					MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.R305C	p.R481C	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			11	2086	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		481			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1441C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933230	0.92458	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12672	2.66;2.66	5.28	5.28	0.74379	ATPase, AAA+ type, core (1);	0.059515	0.64402	D	0.000001	T	0.56140	0.1965	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73836	-0.3857	10	0.87932	D	0	-15.6776	16.4558	0.84012	0.0:0.0:1.0:0.0	.	481	P33993	MCM7_HUMAN	C	481;418;374;305	ENSP00000307288:R481C;ENSP00000346171:R305C	ENSP00000307288:R481C	R	-	1	0	MCM7	99531487	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.595000	0.98260	2.738000	0.93877	0.655000	0.94253	CGC		0.632	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			10	92	0	0	0	1	0	10	92				
ILDR2	387597	broad.mit.edu	37	1	166888585	166888585	+	3'UTR	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:166888585G>C	ENST00000271417.3	-	0	1982				ILDR2_ENST00000469934.2_Silent_p.V418V|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2						cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGAAATGTTGACAACATCAG	0.458																																						ENST00000469934.2																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1252-1254)gtC>gtG		immunoglobulin-like domain containing receptor 2							83.0	73.0	76.0					1																	166888585		2203	4300	6503	SO:0001624	3_prime_UTR_variant	387597					integral to membrane		g.chr1:166888585G>C	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.*7C>G	1.37:g.166888585G>C						ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR	p.V418V			Q71H61	ILDR2_HUMAN			9	1467	-			0						Silent	SNP	ENST00000271417.3	37	c.1254C>G	CCDS1256.1																																																																																				0.458	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		4	41	0	0	0	1	0	4	41				
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:106976771C>G	ENST00000369701.3	+	19	2852	c.2625C>G	c.(2623-2625)atC>atG	p.I875M	SORCS3_ENST00000369699.4_Missense_Mutation_p.I161M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.I875I(1)	stomach(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2623-2625)atC>atG		sortilin-related VPS10 domain containing receptor 3							165.0	125.0	139.0					10																	106976771		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976771C>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2625C>G	10.37:g.106976771C>G	ENSP00000358715:p.Ile875Met					SORCS3_ENST00000369699.4_Missense_Mutation_p.I161M	p.I875M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2852	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	875			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2625C>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148424	0.21288	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.60548	0.18;0.18	5.87	-8.14	0.01069	PKD domain (4);	0.245738	0.42053	D	0.000764	T	0.26991	0.0661	N	0.17082	0.46	0.23872	N	0.996607	B	0.25719	0.132	B	0.26969	0.075	T	0.17289	-1.0374	9	.	.	.	.	5.1881	0.15195	0.1839:0.1522:0.0643:0.5996	.	875	Q9UPU3	SORC3_HUMAN	M	875;161	ENSP00000358715:I875M;ENSP00000358713:I161M	.	I	+	3	3	SORCS3	106966761	0.000000	0.05858	0.802000	0.32245	0.960000	0.62799	-7.263000	0.00040	-1.614000	0.01575	-0.137000	0.14449	ATC		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	91	0	0	0	1	0	9	91				
TNIP3	79931	broad.mit.edu	37	4	122085252	122085252	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:122085252C>G	ENST00000509841.1	-	4	338	c.260G>C	c.(259-261)aGa>aCa	p.R87T	TNIP3_ENST00000507879.1_Missense_Mutation_p.R80T|TNIP3_ENST00000454328.1_Missense_Mutation_p.R10T|TNIP3_ENST00000057513.3_Missense_Mutation_p.R10T	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GGCAATCATTCTAGATGTGCC	0.393																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(28-30)aGa>aCa		TNFAIP3 interacting protein 3							125.0	116.0	119.0					4																	122085252		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122085252C>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.260G>C	4.37:g.122085252C>G	ENSP00000426613:p.Arg87Thr					TNIP3_ENST00000057513.3_Missense_Mutation_p.R10T|TNIP3_ENST00000507879.1_Missense_Mutation_p.R80T|TNIP3_ENST00000509841.1_Missense_Mutation_p.R87T	p.R10T			Q96KP6	TNIP3_HUMAN			3	256	-			10						Missense_Mutation	SNP	ENST00000509841.1	37	c.29G>C	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913774	0.33815	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.50813	0.84;0.84;0.74;0.73	5.44	2.8	0.32819	.	0.942035	0.08813	N	0.890034	T	0.48786	0.1519	L	0.44542	1.39	0.09310	N	1	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.51229	0.663;0.663;0.663	T	0.28996	-1.0026	10	0.39692	T	0.17	-1.8178	8.2609	0.31783	0.0:0.7465:0.0:0.2534	.	80;10;10	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	T	10;10;80;87	ENSP00000057513:R10T;ENSP00000411817:R10T;ENSP00000427106:R80T;ENSP00000426613:R87T	ENSP00000057513:R10T	R	-	2	0	TNIP3	122304702	0.443000	0.25641	0.019000	0.16419	0.019000	0.09904	0.914000	0.28624	0.498000	0.27948	-0.142000	0.14014	AGA		0.393	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		9	117	0	0	0	1	0	9	117				
DPP10	57628	broad.mit.edu	37	2	116572398	116572398	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:116572398C>A	ENST00000410059.1	+	20	2210	c.1730C>A	c.(1729-1731)aCa>aAa	p.T577K	DPP10_ENST00000310323.8_Missense_Mutation_p.T570K|DPP10_ENST00000409163.1_Missense_Mutation_p.T527K|DPP10_ENST00000393147.2_Missense_Mutation_p.T581K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	577						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGCTGGTTACAGATAAGTTC	0.408																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1729-1731)aCa>aAa		dipeptidyl-peptidase 10 (non-functional)							131.0	126.0	128.0					2																	116572398		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572398C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1730C>A	2.37:g.116572398C>A	ENSP00000386565:p.Thr577Lys					DPP10_ENST00000393147.2_Missense_Mutation_p.T581K|DPP10_ENST00000409163.1_Missense_Mutation_p.T527K|DPP10_ENST00000310323.8_Missense_Mutation_p.T570K	p.T577K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			20	2210	+			577					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1730C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871872	0.33069	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.16	4.26	0.50523	.	0.251207	0.39759	N	0.001275	T	0.48995	0.1531	M	0.78637	2.42	0.46011	D	0.998814	P;B;P;B	0.36789	0.518;0.191;0.57;0.384	B;B;B;B	0.40741	0.339;0.076;0.236;0.183	T	0.51545	-0.8692	10	0.38643	T	0.18	-13.2158	13.9677	0.64218	0.1641:0.8358:0.0:0.0	.	570;581;573;577	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	K	577;527;581;570;527	ENSP00000386565:T577K;ENSP00000387038:T527K;ENSP00000376855:T581K;ENSP00000309066:T570K	ENSP00000309066:T570K	T	+	2	0	DPP10	116288868	0.999000	0.42202	1.000000	0.80357	0.392000	0.30506	1.696000	0.37773	1.373000	0.46208	-0.274000	0.10170	ACA		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		8	96	1	0	0.00448238	1	0.00456643	8	96				
PPP2R3A	5523	broad.mit.edu	37	3	135801152	135801152	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801152G>A	ENST00000264977.3	+	8	3294	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D272N|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D157N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	893					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAAATTACAGATTACTTCTC	0.353																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2677-2679)Gat>Aat		protein phosphatase 2, regulatory subunit B'', alpha							105.0	111.0	109.0					3																	135801152		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801152G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2677G>A	3.37:g.135801152G>A	ENSP00000264977:p.Asp893Asn					PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D157N|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D272N	p.D893N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3294	+			893					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2677G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028630	0.93518	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.09723	2.95;2.95;2.95	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.58510	1.815	0.80722	D	1	P;P	0.50819	0.575;0.939	B;P	0.55011	0.406;0.766	T	0.00173	-1.1957	10	0.33940	T	0.23	.	18.3583	0.90365	0.0:0.0:1.0:0.0	.	272;893	Q06190-2;Q06190	.;P2R3A_HUMAN	N	893;157;272	ENSP00000264977:D893N;ENSP00000419344:D157N;ENSP00000334748:D272N	ENSP00000264977:D893N	D	+	1	0	PPP2R3A	137283842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.593000	0.87608	0.563000	0.77884	GAT		0.353	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		29	681	0	0	0	1	0	29	681				
IGSF5	150084	broad.mit.edu	37	21	41143078	41143078	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr21:41143078C>A	ENST00000380588.4	+	4	757	c.654C>A	c.(652-654)acC>acA	p.T218T	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	218	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GCGTGGCTACCTGGAAGAGCC	0.493																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(652-654)acC>acA		immunoglobulin superfamily, member 5							72.0	70.0	71.0					21																	41143078		2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41143078C>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.654C>A	21.37:g.41143078C>A						IGSF5_ENST00000479378.1_3'UTR	p.T218T	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	757	+		Prostate(19;5.35e-06)	218			Ig-like V-type 2.			Silent	SNP	ENST00000380588.4	37	c.654C>A	CCDS33562.1																																																																																				0.493	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			19	76	1	0	4.63292e-17	1	5.22607e-17	19	76				
XAGE5	170627	broad.mit.edu	37	X	52844131	52844131	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:52844131C>A	ENST00000375501.1	+	3	194	c.194C>A	c.(193-195)gCt>gAt	p.A65D	XAGE5_ENST00000425386.1_Missense_Mutation_p.A65D|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000351072.1_Missense_Mutation_p.A65D|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	65										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AACCTGGAAGCTGATCTCCAG	0.438																																						ENST00000351072.1																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(193-195)gCt>gAt		X antigen family, member 5							60.0	50.0	54.0					X																	52844131		2203	4300	6503	SO:0001583	missense	170627							g.chrX:52844131C>A	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.194C>A	X.37:g.52844131C>A	ENSP00000364651:p.Ala65Asp					XAGE5_ENST00000375501.1_Missense_Mutation_p.A65D|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000425386.1_Missense_Mutation_p.A65D	p.A65D			Q8WWM1	GAGD5_HUMAN			4	260	+			65					Q5JS81	Missense_Mutation	SNP	ENST00000375501.1	37	c.194C>A	CCDS14346.1	.	.	.	.	.	.	.	.	.	.	c	2.879	-0.232262	0.05983	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375501	T;T;T	0.26518	1.73;1.73;1.73	0.678	-0.275	0.12906	.	.	.	.	.	T	0.33498	0.0865	M	0.84082	2.675	0.09310	N	1	B	0.30104	0.268	B	0.38378	0.272	T	0.43734	-0.9373	8	0.87932	D	0	.	.	.	.	.	65	Q8WWM1	GAGD5_HUMAN	D	65	ENSP00000342240:A65D;ENSP00000392864:A65D;ENSP00000364651:A65D	ENSP00000342240:A65D	A	+	2	0	XAGE5	52860856	0.011000	0.17503	0.002000	0.10522	0.014000	0.08584	-0.572000	0.05881	-0.261000	0.09405	-1.408000	0.01128	GCT		0.438	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		14	82	1	0	9.31168e-06	1	9.88797e-06	14	82				
LINC01317	104355287	broad.mit.edu	37	2	33952349	33952349	+	lincRNA	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:33952349C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAAGGCCAGCCCCAACAGGAA	0.617																																						ENST00000366209.2																			0																																																			104355287							g.chr2:33952349C>T																													2.37:g.33952349C>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.617	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			5	15	0	0	0	1	0	5	15				
RNMT	8731	broad.mit.edu	37	18	13731920	13731920	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:13731920C>T	ENST00000383314.2	+	3	644	c.404C>T	c.(403-405)cCt>cTt	p.P135L	RNMT_ENST00000543302.2_Missense_Mutation_p.P135L|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000262173.3_Missense_Mutation_p.P135L|RNMT_ENST00000589866.1_Missense_Mutation_p.P135L|RNMT_ENST00000592764.1_Missense_Mutation_p.P135L			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	135	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAGGATGTTCCTGAAAAGCAG	0.323																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(403-405)cCt>cTt		RNA (guanine-7-) methyltransferase							50.0	59.0	56.0					18																	13731920		2198	4277	6475	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13731920C>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.404C>T	18.37:g.13731920C>T	ENSP00000372804:p.Pro135Leu					RNMT_ENST00000262173.3_Missense_Mutation_p.P135L|RNMT_ENST00000592764.1_Missense_Mutation_p.P135L|RNMT_ENST00000543302.2_Missense_Mutation_p.P135L|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.P135L	p.P135L			O43148	MCES_HUMAN			3	644	+			135					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.404C>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	C	9.870	1.198677	0.22121	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.28	2.47	0.30058	.	0.799521	0.11110	N	0.598664	T	0.20373	0.0490	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.34977	0.478;0.002	B;B	0.34242	0.178;0.002	T	0.17868	-1.0355	9	0.08837	T	0.75	-19.105	7.0196	0.24907	0.3076:0.6115:0.0:0.0809	.	135;135	O43148-2;O43148	.;MCES_HUMAN	L	135	.	ENSP00000262173:P135L	P	+	2	0	RNMT	13721920	0.342000	0.24809	0.039000	0.18376	0.870000	0.49936	0.976000	0.29462	0.281000	0.22233	-0.181000	0.13052	CCT		0.323	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		11	101	0	0	0	1	0	11	101				
AXL	558	broad.mit.edu	37	19	41759572	41759572	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41759572C>G	ENST00000301178.4	+	17	2185	c.1995C>G	c.(1993-1995)acC>acG	p.T665T	AXL_ENST00000359092.3_Silent_p.T656T|AXL_ENST00000593513.1_Silent_p.T397T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCTGAGTACCAAGAGATTCA	0.597																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1993-1995)acC>acG		AXL receptor tyrosine kinase							110.0	89.0	96.0					19																	41759572		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41759572C>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1995C>G	19.37:g.41759572C>G						AXL_ENST00000359092.3_Silent_p.T656T|AXL_ENST00000593513.1_Silent_p.T397T	p.T665T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			17	2185	+			665			Protein kinase.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.1995C>G	CCDS12575.1																																																																																				0.597	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			4	51	0	0	0	1	0	4	51				
FN1	2335	broad.mit.edu	37	2	216288965	216288965	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:216288965A>T	ENST00000359671.1	-	8	1385	c.1120T>A	c.(1120-1122)Tgc>Agc	p.C374S	FN1_ENST00000356005.4_Missense_Mutation_p.C374S|FN1_ENST00000354785.4_Missense_Mutation_p.C374S|FN1_ENST00000323926.6_Missense_Mutation_p.C374S|FN1_ENST00000432072.2_Missense_Mutation_p.C374S|FN1_ENST00000345488.5_Missense_Mutation_p.C374S|FN1_ENST00000346544.3_Missense_Mutation_p.C374S|FN1_ENST00000426059.1_Missense_Mutation_p.C374S|FN1_ENST00000357009.2_Missense_Mutation_p.C374S|FN1_ENST00000357867.4_Missense_Mutation_p.C374S|FN1_ENST00000446046.1_Missense_Mutation_p.C374S|FN1_ENST00000443816.1_Missense_Mutation_p.C374S|FN1_ENST00000336916.4_Missense_Mutation_p.C374S|FN1_ENST00000421182.1_Missense_Mutation_p.C374S			P02751	FINC_HUMAN	fibronectin 1	374	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTGTGGTGCAGGAGTAGAAC	0.478																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1120-1122)Tgc>Agc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						174.0	142.0	153.0					2																	216288965		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288965A>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1120T>A	2.37:g.216288965A>T	ENSP00000352696:p.Cys374Ser					FN1_ENST00000426059.1_Missense_Mutation_p.C374S|FN1_ENST00000336916.4_Missense_Mutation_p.C374S|FN1_ENST00000323926.6_Missense_Mutation_p.C374S|FN1_ENST00000359671.1_Missense_Mutation_p.C374S|FN1_ENST00000446046.1_Missense_Mutation_p.C374S|FN1_ENST00000443816.1_Missense_Mutation_p.C374S|FN1_ENST00000432072.2_Missense_Mutation_p.C374S|FN1_ENST00000421182.1_Missense_Mutation_p.C374S|FN1_ENST00000357867.4_Missense_Mutation_p.C374S|FN1_ENST00000345488.5_Missense_Mutation_p.C374S|FN1_ENST00000357009.2_Missense_Mutation_p.C374S|FN1_ENST00000356005.4_Missense_Mutation_p.C374S|FN1_ENST00000346544.3_Missense_Mutation_p.C374S	p.C374S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1489	-		Renal(323;0.127)	374			Collagen-binding.|Fibronectin type-II 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1120T>A		.	.	.	.	.	.	.	.	.	.	A	27.5	4.834647	0.91036	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	H	0.95294	3.65	0.80722	D	1	D;D;D;B;D;D;D;P;D;D;D	0.89917	1.0;0.997;1.0;0.124;0.999;0.999;1.0;0.78;0.999;0.999;0.994	D;D;D;B;D;D;D;B;D;D;D	0.97110	0.999;0.989;1.0;0.026;0.925;0.955;0.999;0.217;0.925;0.925;0.992	D	0.96175	0.9126	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	374;374;374;374;374;374;374;374;374;374;374	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	374	ENSP00000394423:C374S;ENSP00000323534:C374S;ENSP00000338200:C374S;ENSP00000350534:C374S;ENSP00000346839:C374S;ENSP00000352696:C374S;ENSP00000265312:C374S;ENSP00000273049:C374S;ENSP00000349509:C374S;ENSP00000410422:C374S;ENSP00000415018:C374S;ENSP00000399538:C374S;ENSP00000348285:C374S;ENSP00000398907:C374S	ENSP00000265313:C374S	C	-	1	0	FN1	215997210	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.875000	0.92372	2.288000	0.76882	0.533000	0.62120	TGC		0.478	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		8	125	0	0	0	1	0	8	125				
HDAC6	10013	broad.mit.edu	37	X	48682632	48682632	+	Silent	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:48682632A>T	ENST00000334136.5	+	28	3685	c.3507A>T	c.(3505-3507)ggA>ggT	p.G1169G	HDAC6_ENST00000444343.2_Silent_p.G1183G|HDAC6_ENST00000376619.2_Silent_p.G1169G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1169					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAATTCTGGACACCCGCTGG	0.582																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3505-3507)ggA>ggT		histone deacetylase 6	Vorinostat(DB02546)						159.0	110.0	127.0					X																	48682632		2203	4300	6503	SO:0001819	synonymous_variant	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48682632A>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3507A>T	X.37:g.48682632A>T						HDAC6_ENST00000444343.2_Silent_p.G1183G|HDAC6_ENST00000376619.2_Silent_p.G1169G	p.G1169G			Q9UBN7	HDAC6_HUMAN			28	3685	+			1169					O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	c.3507A>T	CCDS14306.1																																																																																				0.582	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		10	81	0	0	0	1	0	10	81				
OR6C1	390321	broad.mit.edu	37	12	55714857	55714857	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:55714857C>G	ENST00000379668.2	+	1	512	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCCCAGCACTCATGTTGCTTT	0.378																																						ENST00000379668.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(472-474)ctC>ctG		olfactory receptor, family 6, subfamily C, member 1							55.0	50.0	52.0					12																	55714857		2203	4298	6501	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714857C>G	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.474C>G	12.37:g.55714857C>G							p.L158L	NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN			1	512	+			158					B2RNM0	Silent	SNP	ENST00000379668.2	37	c.474C>G	CCDS31818.1																																																																																				0.378	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		8	50	0	0	0	1	0	8	50				
ZNF277	11179	broad.mit.edu	37	7	111977804	111977804	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:111977804G>A	ENST00000361822.3	+	9	1018	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	297					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGATTGGGAAGAACACCCTGC	0.388																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(889-891)Gaa>Aaa		zinc finger protein 277							131.0	131.0	131.0					7																	111977804		2203	4300	6503	SO:0001583	missense	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111977804G>A	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.889G>A	7.37:g.111977804G>A	ENSP00000354501:p.Glu297Lys					AC004112.4_ENST00000431064.1_RNA	p.E297K	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			9	1018	+			297					Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	c.889G>A	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457831	0.84317	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.48201	0.82;0.82	5.93	5.93	0.95920	.	0.098604	0.64402	D	0.000002	T	0.38268	0.1034	L	0.27053	0.805	0.80722	D	1	P	0.38922	0.651	B	0.33521	0.165	T	0.18903	-1.0322	10	0.42905	T	0.14	-18.3433	20.3495	0.98807	0.0:0.0:1.0:0.0	.	297	Q9NRM2	ZN277_HUMAN	K	297;8	ENSP00000354501:E297K;ENSP00000415735:E8K	ENSP00000354501:E297K	E	+	1	0	ZNF277	111765040	1.000000	0.71417	0.945000	0.38365	0.980000	0.70556	7.340000	0.79292	2.814000	0.96858	0.591000	0.81541	GAA		0.388	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		7	130	0	0	0	1	0	7	130				
CAMSAP1	157922	broad.mit.edu	37	9	138742206	138742206	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:138742206T>A	ENST00000389532.4	-	6	974	c.910A>T	c.(910-912)Acc>Tcc	p.T304S	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26S|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	304	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCTTCCAAGGTGAGATAAAAA	0.353																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(910-912)Acc>Tcc		calmodulin regulated spectrin-associated protein 1							75.0	82.0	80.0					9																	138742206		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138742206T>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.910A>T	9.37:g.138742206T>A	ENSP00000374183:p.Thr304Ser					CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26S	p.T304S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	6	974	-			304			CH.		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.910A>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298971	0.60195	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95103	-3.61;-3.61;2.46	5.57	3.17	0.36434	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (2);	0.143971	0.64402	N	0.000007	D	0.92912	0.7745	L	0.35644	1.08	0.52099	D	0.999949	D;P	0.54964	0.969;0.743	P;B	0.55222	0.771;0.392	D	0.90998	0.4840	10	0.87932	D	0	-8.2914	7.4187	0.27059	0.1281:0.0693:0.0:0.8025	.	304;315	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	S	304;26;315	ENSP00000374183:T304S;ENSP00000312463:T26S;ENSP00000386420:T315S	ENSP00000312463:T26S	T	-	1	0	CAMSAP1	137882027	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.978000	0.49305	0.451000	0.26802	0.533000	0.62120	ACC		0.353	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	129	0	0	0	1	0	7	129				
IGF2BP1	10642	broad.mit.edu	37	17	47076494	47076494	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:47076494C>T	ENST00000290341.3	+	2	533	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R67C|RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	67	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAGGAAAACGCTTAGAGAT	0.478																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(199-201)Cgc>Tgc		insulin-like growth factor 2 mRNA binding protein 1							29.0	35.0	33.0					17																	47076494		2184	4279	6463	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47076494C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.199C>T	17.37:g.47076494C>T	ENSP00000290341:p.Arg67Cys					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R67C|IGF2BP1_ENST00000515586.1_3'UTR	p.R67C	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			2	533	+			67			RRM 1.		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.199C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914297	0.72983	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.08282	3.11;3.11	4.69	3.64	0.41730	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.129767	0.51477	D	0.000088	T	0.16300	0.0392	L	0.53729	1.69	0.32639	N	0.520987	D;D	0.57899	0.963;0.981	P;P	0.56788	0.465;0.806	T	0.01998	-1.1232	10	0.39692	T	0.17	-18.9537	10.4351	0.44430	0.1466:0.7109:0.1425:0.0	.	67;67	C9JT33;Q9NZI8	.;IF2B1_HUMAN	C	67	ENSP00000290341:R67C;ENSP00000389135:R67C	ENSP00000290341:R67C	R	+	1	0	IGF2BP1	44431493	0.877000	0.30153	1.000000	0.80357	0.998000	0.95712	1.413000	0.34725	2.590000	0.87494	0.655000	0.94253	CGC		0.478	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		15	106	0	0	0	1	0	15	106				
ZNF567	163081	broad.mit.edu	37	19	37211198	37211198	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:37211198G>C	ENST00000536254.2	+	6	1794	c.1572G>C	c.(1570-1572)caG>caC	p.Q524H	ZNF567_ENST00000360729.4_Missense_Mutation_p.Q493H|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q493H|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q493H|ZNF567_ENST00000585696.1_Missense_Mutation_p.Q493H|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCTACATCAGAGAATTCATA	0.403																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1477-1479)caG>caC		zinc finger protein 567							49.0	51.0	50.0					19																	37211198		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211198G>C	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1572G>C	19.37:g.37211198G>C	ENSP00000441838:p.Gln524His					ZNF567_ENST00000360729.4_Missense_Mutation_p.Q493H|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q493H|ZNF567_ENST00000536254.2_Missense_Mutation_p.Q524H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q493H	p.Q493H			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2709	+	Esophageal squamous(110;0.198)		524					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1479G>C		.	.	.	.	.	.	.	.	.	.	G	13.93	2.385356	0.42308	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.18502	2.21;2.21;2.21	4.42	2.29	0.28610	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000662	T	0.34077	0.0885	M	0.67569	2.06	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.895;0.98	T	0.03403	-1.1040	10	0.48119	T	0.1	.	9.0553	0.36401	0.1842:0.0:0.8158:0.0	.	524;493	Q8N184;F8WEL6	ZN567_HUMAN;.	H	524;468;493;523;493	ENSP00000441838:Q524H;ENSP00000353957:Q493H;ENSP00000376003:Q493H	ENSP00000353957:Q493H	Q	+	3	2	ZNF567	41903038	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	0.804000	0.27098	0.806000	0.34183	0.561000	0.74099	CAG		0.403	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		14	65	0	0	0	1	0	14	65				
CCDC27	148870	broad.mit.edu	37	1	3670730	3670730	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:3670730G>C	ENST00000294600.2	+	2	451	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	123										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCCAAAATGGAACTTCGAAG	0.607																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(367-369)Gaa>Caa		coiled-coil domain containing 27							138.0	131.0	133.0					1																	3670730		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3670730G>C		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.367G>C	1.37:g.3670730G>C	ENSP00000294600:p.Glu123Gln						p.E123Q	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	2	451	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	123					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.367G>C	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	6.711	0.499904	0.12762	.	.	ENSG00000162592	ENST00000294600	T	0.37915	1.17	3.19	-0.407	0.12385	.	0.936406	0.08743	N	0.900204	T	0.22898	0.0553	L	0.32530	0.975	0.09310	N	1	P	0.46512	0.879	B	0.39738	0.308	T	0.17930	-1.0353	10	0.87932	D	0	-30.2635	2.3539	0.04291	0.3446:0.0:0.4249:0.2305	.	123	Q2M243	CCD27_HUMAN	Q	123	ENSP00000294600:E123Q	ENSP00000294600:E123Q	E	+	1	0	CCDC27	3660590	0.035000	0.19736	0.076000	0.20297	0.096000	0.18686	0.231000	0.17872	-0.069000	0.12931	0.609000	0.83330	GAA		0.607	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		6	216	0	0	0	1	0	6	216				
TAF5	6877	broad.mit.edu	37	10	105143116	105143116	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:105143116T>A	ENST00000369839.3	+	7	1679	c.1656T>A	c.(1654-1656)agT>agA	p.S552R	TAF5_ENST00000351396.4_Missense_Mutation_p.S552R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	552					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAGCTTCAGTCCGGATAGGT	0.343																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1654-1656)agT>agA		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							71.0	71.0	71.0					10																	105143116		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105143116T>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1656T>A	10.37:g.105143116T>A	ENSP00000358854:p.Ser552Arg					TAF5_ENST00000351396.4_Missense_Mutation_p.S552R	p.S552R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	7	1679	+		Colorectal(252;0.0747)|Breast(234;0.128)	552					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1656T>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654002	0.67472	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;D	0.83673	-0.21;-1.75	5.54	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.86420	2.815	0.58432	D	0.999999	P;D	0.61080	0.944;0.989	P;P	0.61003	0.714;0.882	D	0.89646	0.3866	10	0.72032	D	0.01	-11.3088	9.1513	0.36965	0.0:0.1464:0.0:0.8536	.	552;552	Q15542-2;Q15542	.;TAF5_HUMAN	R	552	ENSP00000358854:S552R;ENSP00000311024:S552R	ENSP00000311024:S552R	S	+	3	2	TAF5	105133106	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.489000	0.35562	0.940000	0.37473	0.454000	0.30748	AGT		0.343	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			11	90	0	0	0	1	0	11	90				
MEA1	4201	broad.mit.edu	37	6	42980224	42980224	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:42980224G>A	ENST00000244711.3	-	4	696	c.542C>T	c.(541-543)tCc>tTc	p.S181F	KLHDC3_ENST00000244670.8_5'Flank|KLHDC3_ENST00000326974.4_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	181					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGCAGGGGATGCCTGCCG	0.572																																						ENST00000244711.3																			0				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(541-543)tCc>tTc		male-enhanced antigen 1							181.0	174.0	177.0					6																	42980224		2203	4300	6503	SO:0001583	missense	4201				cell differentiation|male gonad development|spermatogenesis		protein binding	g.chr6:42980224G>A		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.542C>T	6.37:g.42980224G>A	ENSP00000244711:p.Ser181Phe						p.S181F	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	696	-			181					Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	c.542C>T	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617641	0.46736	.	.	ENSG00000124733	ENST00000244711	T	0.55413	0.52	6.17	5.31	0.75309	.	0.437324	0.25211	N	0.032302	T	0.24122	0.0584	N	0.24115	0.695	0.35774	D	0.821124	B	0.02656	0.0	B	0.08055	0.003	T	0.15037	-1.0451	10	0.72032	D	0.01	-0.2917	12.3507	0.55146	0.1365:0.0:0.8635:0.0	.	181	Q16626	MEA1_HUMAN	F	181	ENSP00000244711:S181F	ENSP00000244711:S181F	S	-	2	0	MEA1	43088202	0.297000	0.24408	0.523000	0.27875	0.964000	0.63967	1.173000	0.31920	1.630000	0.50440	0.655000	0.94253	TCC		0.572	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2			10	304	0	0	0	1	0	10	304				
PRKAG1	5571	broad.mit.edu	37	12	49399267	49399267	+	Silent	SNP	A	A	G	rs371515098		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:49399267A>G	ENST00000548065.1	-	4	684	c.228T>C	c.(226-228)gaT>gaC	p.D76D	PRKAG1_ENST00000316299.5_Silent_p.D76D|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Silent_p.D44D|PRKAG1_ENST00000547306.1_Silent_p.D25D|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	76	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GCTTCTTACTATCCCATAAAG	0.438																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(226-228)gaT>gaC		protein kinase, AMP-activated, gamma 1 non-catalytic subunit		A	,,	0,4406		0,0,2203	76.0	72.0	73.0		228,132,228	-1.9	1.0	12		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PRKAG1	NM_001206709.1,NM_001206710.1,NM_002733.4	,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,	76/341,44/300,76/332	49399267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49399267A>G	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.228T>C	12.37:g.49399267A>G						PRKAG1_ENST00000552212.1_Silent_p.D44D|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Silent_p.D76D|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Silent_p.D25D|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552284.1_RNA	p.D76D			P54619	AAKG1_HUMAN			4	684	-			76			CBS 1.		B4DDT7|Q8N7V9	Silent	SNP	ENST00000548065.1	37	c.228T>C	CCDS8777.1																																																																																				0.438	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		11	82	0	0	0	1	0	11	82				
SYNE2	23224	broad.mit.edu	37	14	64682003	64682003	+	Intron	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:64682003G>A	ENST00000344113.4	+	106	19545				ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Splice_Site|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000554805.1_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000394768.2_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCTTTTTCAGATGTAGAAAT	0.423																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e107-1		spectrin repeat containing, nuclear envelope 2							135.0	124.0	128.0					14																	64682003		1882	4121	6003	SO:0001627	intron_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64682003G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19333+815G>A	14.37:g.64682003G>A						SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000458046.2_Splice_Site|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron		NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	107	19563	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37		CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056941	0.76074	.	.	ENSG00000054654	ENST00000358025;ENST00000555002;ENST00000458046	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5817	0.91174	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63751756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.619000	0.88677	0.561000	0.74099	.		0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		36	188	0	0	0	1	0	36	188				
VPS13D	55187	broad.mit.edu	37	1	12337170	12337170	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:12337170A>T	ENST00000358136.3	+	19	3655	c.3525A>T	c.(3523-3525)ttA>ttT	p.L1175F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1175F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCTGAACTTACTGCTTCTTC	0.403																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3523-3525)ttA>ttT		vacuolar protein sorting 13 homolog D (S. cerevisiae)							97.0	91.0	93.0					1																	12337170		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337170A>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3525A>T	1.37:g.12337170A>T	ENSP00000350854:p.Leu1175Phe					VPS13D_ENST00000356315.4_Missense_Mutation_p.L1175F	p.L1175F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3655	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1175						Missense_Mutation	SNP	ENST00000358136.3	37	c.3525A>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610559	0.46527	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.49432	0.78;0.78	6.17	-0.694	0.11294	.	0.159513	0.39687	N	0.001295	T	0.35566	0.0936	L	0.44542	1.39	0.80722	D	1	P;P	0.45474	0.859;0.779	P;B	0.45829	0.494;0.299	T	0.11743	-1.0575	10	0.48119	T	0.1	.	2.503	0.04638	0.3691:0.2802:0.2565:0.0942	.	1175;1175	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	1175	ENSP00000348666:L1175F;ENSP00000350854:L1175F	ENSP00000348666:L1175F	L	+	3	2	VPS13D	12259757	0.915000	0.31059	0.949000	0.38748	0.892000	0.51952	0.082000	0.14847	-0.032000	0.13758	0.533000	0.62120	TTA		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		34	130	0	0	0	1	0	34	130				
PPP2R3A	5523	broad.mit.edu	37	3	135801206	135801206	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801206G>C	ENST00000264977.3	+	8	3348	c.2731G>C	c.(2731-2733)Gat>Cat	p.D911H	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D290H|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D175H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	911					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGGAACTAGATACTGATCA	0.378																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2731-2733)Gat>Cat		protein phosphatase 2, regulatory subunit B'', alpha							127.0	129.0	128.0					3																	135801206		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801206G>C	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2731G>C	3.37:g.135801206G>C	ENSP00000264977:p.Asp911His					PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D175H|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D290H	p.D911H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3348	+			911					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2731G>C	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866247	0.91511	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	D;D;D	0.95885	-3.84;-3.84;-3.84	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99659	1.0993	10	0.87932	D	0	.	18.3583	0.90365	0.0:0.0:1.0:0.0	.	290;911	Q06190-2;Q06190	.;P2R3A_HUMAN	H	911;175;290	ENSP00000264977:D911H;ENSP00000419344:D175H;ENSP00000334748:D290H	ENSP00000264977:D911H	D	+	1	0	PPP2R3A	137283896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.593000	0.87608	0.563000	0.77884	GAT		0.378	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		48	798	0	0	0	1	0	48	798				
IGHG4	3503	broad.mit.edu	37	14	106091009	106091009	+	RNA	SNP	C	C	G	rs373323671		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:106091009C>G	ENST00000390543.2	-	0	787							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTGCCCATTGCTCTCCCACTC	0.617																																						ENST00000390543.2																			0																				152.0	225.0	201.0					14																	106091009		2013	4164	6177			3503							g.chr14:106091009C>G	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091009C>G														0	787	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.617	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		60	381	0	0	0	1	0	60	381				
PLEKHG4B	153478	broad.mit.edu	37	5	143516	143516	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:143516G>C	ENST00000283426.6	+	3	691	c.641G>C	c.(640-642)aGa>aCa	p.R214T	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	214							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGTCATGGCAGAGCAGTGGTG	0.627																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(640-642)aGa>aCa		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							59.0	63.0	62.0					5																	143516		2202	4295	6497	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:143516G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.641G>C	5.37:g.143516G>C	ENSP00000283426:p.Arg214Thr						p.R214T	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	3	691	+			214						Missense_Mutation	SNP	ENST00000283426.6	37	c.641G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.078123	0.36662	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.66995	-0.24;-0.24	2.67	2.67	0.31697	.	.	.	.	.	T	0.81148	0.4762	M	0.86268	2.805	0.28033	N	0.934054	D	0.89917	1.0	D	0.85130	0.997	T	0.71358	-0.4617	9	0.34782	T	0.22	.	11.0441	0.47849	0.0:0.0:1.0:0.0	.	214	Q96PX9	PKH4B_HUMAN	T	214;128	ENSP00000283426:R214T;ENSP00000422493:R128T	ENSP00000283426:R214T	R	+	2	0	PLEKHG4B	196516	0.991000	0.36638	0.063000	0.19743	0.036000	0.12997	3.734000	0.55037	1.182000	0.42928	0.467000	0.42956	AGA		0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		8	107	0	0	0	1	0	8	107				
ABCD4	5826	broad.mit.edu	37	14	74766887	74766887	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:74766887C>G	ENST00000356924.4	-	2	266	c.123G>C	c.(121-123)ttG>ttC	p.L41F	ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Missense_Mutation_p.L41F|ABCD4_ENST00000298816.7_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	41	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCAGGAACATCAAGGCATTTT	0.512																																						ENST00000356924.4																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(121-123)ttG>ttC		ATP-binding cassette, sub-family D (ALD), member 4							92.0	81.0	85.0					14																	74766887		2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74766887C>G	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.123G>C	14.37:g.74766887C>G	ENSP00000349396:p.Leu41Phe					ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557588.1_Missense_Mutation_p.L41F|ABCD4_ENST00000557554.1_5'UTR	p.L41F	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	2	266	-			41			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.123G>C	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848201	0.32699	.	.	ENSG00000119688	ENST00000356924;ENST00000557588	D;D	0.99698	-6.44;-6.44	5.51	3.67	0.42095	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.167110	0.38492	N	0.001670	D	0.98030	0.9351	L	0.41027	1.25	0.80722	D	1	P	0.39576	0.679	B	0.38327	0.271	D	0.98312	1.0524	10	0.09843	T	0.71	.	6.9368	0.24470	0.0:0.5976:0.2469:0.1555	.	41	O14678	ABCD4_HUMAN	F	41	ENSP00000349396:L41F;ENSP00000451993:L41F	ENSP00000349396:L41F	L	-	3	2	ABCD4	73836640	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.437000	0.21543	0.676000	0.31285	0.650000	0.86243	TTG		0.512	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		5	79	0	0	0	1	0	5	79				
MPEG1	219972	broad.mit.edu	37	11	58978300	58978300	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:58978300C>T	ENST00000361050.3	-	1	2124	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	680						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTGAACTTCCGGGTGCCGTA	0.562																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2038-2040)cGg>cAg		macrophage expressed 1							134.0	134.0	134.0					11																	58978300		2022	4174	6196	SO:0001583	missense	219972					integral to membrane		g.chr11:58978300C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2039G>A	11.37:g.58978300C>T	ENSP00000354335:p.Arg680Gln						p.R680Q	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2124	-		all_epithelial(135;0.125)	680					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.2039G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.028806	0.54790	.	.	ENSG00000197629	ENST00000361050	T	0.25579	1.79	5.69	3.8	0.43715	.	0.207551	0.38837	N	0.001542	T	0.24470	0.0593	M	0.66939	2.045	0.09310	N	1	B	0.29508	0.246	B	0.15484	0.013	T	0.22941	-1.0202	10	0.87932	D	0	-19.516	8.9197	0.35604	0.0:0.7708:0.1494:0.0798	.	680	Q2M385	MPEG1_HUMAN	Q	680	ENSP00000354335:R680Q	ENSP00000354335:R680Q	R	-	2	0	MPEG1	58734876	0.973000	0.33851	0.169000	0.22859	0.843000	0.47879	2.474000	0.45154	0.741000	0.32674	0.655000	0.94253	CGG		0.562	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		7	121	0	0	0	1	0	7	121				
MAST3	23031	broad.mit.edu	37	19	18256580	18256580	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:18256580G>C	ENST00000262811.6	+	24	2980	c.2980G>C	c.(2980-2982)Gag>Cag	p.E994Q	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	994	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGCCCAGGAGGCGGGCCT	0.687																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2980-2982)Gag>Cag		microtubule associated serine/threonine kinase 3							19.0	26.0	24.0					19																	18256580		2066	4192	6258	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18256580G>C	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2980G>C	19.37:g.18256580G>C	ENSP00000262811:p.Glu994Gln					AC007192.6_ENST00000600364.1_RNA	p.E994Q	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			24	2980	+			994			PDZ.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2980G>C	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550132	0.27652	.	.	ENSG00000099308	ENST00000262811	T	0.26810	1.71	4.21	3.15	0.36227	PDZ/DHR/GLGF (4);	0.131736	0.48767	N	0.000173	T	0.13841	0.0335	N	0.05534	-0.03	0.53005	D	0.999969	B	0.09022	0.002	B	0.16289	0.015	T	0.05257	-1.0896	10	0.37606	T	0.19	-16.2071	12.9222	0.58239	0.0:0.1647:0.8353:0.0	.	994	O60307	MAST3_HUMAN	Q	994	ENSP00000262811:E994Q	ENSP00000262811:E994Q	E	+	1	0	MAST3	18117580	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.577000	0.67444	0.727000	0.32360	0.313000	0.20887	GAG		0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	23	0	0	0	1	0	4	23				
DGKB	1607	broad.mit.edu	37	7	14188846	14188846	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:14188846C>G	ENST00000403951.2	-	26	2744	c.2325G>C	c.(2323-2325)aaG>aaC	p.K775N	DGKB_ENST00000258767.5_Missense_Mutation_p.K775N|DGKB_ENST00000402815.1_Missense_Mutation_p.K774N|DGKB_ENST00000407950.1_Missense_Mutation_p.K767N|DGKB_ENST00000399322.3_Missense_Mutation_p.K775N|DGKB_ENST00000444700.2_Missense_Mutation_p.K756N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	775					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GGGCTTGGTTCTTGTGTGTAA	0.413																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2323-2325)aaG>aaC		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						103.0	99.0	100.0					7																	14188846		1815	4074	5889	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14188846C>G	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2325G>C	7.37:g.14188846C>G	ENSP00000385780:p.Lys775Asn					DGKB_ENST00000407950.1_Missense_Mutation_p.K767N|DGKB_ENST00000258767.5_Missense_Mutation_p.K775N|DGKB_ENST00000399322.3_Missense_Mutation_p.K775N|DGKB_ENST00000402815.1_Missense_Mutation_p.K774N|DGKB_ENST00000444700.2_Missense_Mutation_p.K756N	p.K775N			Q9Y6T7	DGKB_HUMAN			26	2744	-			775					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2325G>C	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579424	0.65878	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.72479	2.2	0.51767	D	0.999931	D;D	0.89917	1.0;0.998	D;P	0.79784	0.993;0.852	T	0.66854	-0.5818	10	0.62326	D	0.03	.	19.8788	0.96888	0.0:1.0:0.0:0.0	.	756;775	C9JTC0;Q9Y6T7	.;DGKB_HUMAN	N	775;775;775;774;767;756	ENSP00000385780:K775N;ENSP00000382260:K775N;ENSP00000258767:K775N;ENSP00000384909:K774N;ENSP00000385031:K767N;ENSP00000388451:K756N	ENSP00000258767:K775N	K	-	3	2	DGKB	14155371	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.352000	0.52239	2.708000	0.92522	0.650000	0.86243	AAG		0.413	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		24	112	0	0	0	1	0	24	112				
GPR65	8477	broad.mit.edu	37	14	88478152	88478152	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:88478152C>T	ENST00000267549.3	+	2	1519	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	321					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACAAAGAAAACGCATACTTTC	0.343																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(961-963)Cgc>Tgc		G protein-coupled receptor 65							68.0	68.0	68.0					14																	88478152		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478152C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.961C>T	14.37:g.88478152C>T	ENSP00000267549:p.Arg321Cys					RP11-300J18.2_ENST00000554433.1_RNA	p.R321C	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	1519	+			321					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.961C>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	6.592	0.477675	0.12521	.	.	ENSG00000140030	ENST00000267549	T	0.62498	0.02	5.88	-7.66	0.01277	.	2.096710	0.02262	U	0.067673	T	0.34077	0.0885	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15122	-1.0448	10	0.59425	D	0.04	.	1.2289	0.01939	0.2981:0.3332:0.131:0.2377	.	321	Q8IYL9	PSYR_HUMAN	C	321	ENSP00000267549:R321C	ENSP00000267549:R321C	R	+	1	0	GPR65	87547905	0.000000	0.05858	0.000000	0.03702	0.478000	0.33099	-0.230000	0.09083	-1.365000	0.02158	-0.923000	0.02734	CGC		0.343	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			12	65	0	0	0	1	0	12	65				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818733	159818733	+	RNA	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:159818733C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TAGGAGGGAACGAAGTCACCG	0.507																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159818733C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818733C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.507	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			29	125	0	0	0	1	0	29	125				
STARD13	90627	broad.mit.edu	37	13	33859650	33859650	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:33859650G>A	ENST00000336934.5	-	1	242	c.126C>T	c.(124-126)agC>agT	p.S42S	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	42					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTAGAATCCGGCTCATCCTGT	0.493																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(124-126)agC>agT		StAR-related lipid transfer (START) domain containing 13							180.0	162.0	168.0					13																	33859650		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33859650G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.126C>T	13.37:g.33859650G>A						STARD13_ENST00000487412.1_5'UTR	p.S42S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	1	242	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	42					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.126C>T	CCDS9348.1																																																																																				0.493	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		5	238	0	0	0	1	0	5	238				
AOX1	316	broad.mit.edu	37	2	201531426	201531426	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:201531426T>A	ENST00000374700.2	+	32	3801	c.3560T>A	c.(3559-3561)aTt>aAt	p.I1187N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1187					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAACAGACATTGTCATGGAT	0.383																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3559-3561)aTt>aAt		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						100.0	94.0	96.0					2																	201531426		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201531426T>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3560T>A	2.37:g.201531426T>A	ENSP00000363832:p.Ile1187Asn					AOX1_ENST00000485106.1_3'UTR	p.I1187N	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			32	3801	+			1187					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3560T>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375802	0.82682	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.42513	0.97;0.97;0.97	5.09	5.09	0.68999	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	H	0.98507	4.25	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86925	0.2069	10	0.87932	D	0	-52.5026	15.3271	0.74172	0.0:0.0:0.0:1.0	.	1187	Q06278	ADO_HUMAN	N	1187;73;27	ENSP00000363832:I1187N;ENSP00000260930:I73N;ENSP00000413326:I27N	ENSP00000260930:I73N	I	+	2	0	AOX1	201239671	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.464000	0.80887	2.267000	0.75376	0.383000	0.25322	ATT		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		15	111	0	0	0	1	0	15	111				
OR8H2	390151	broad.mit.edu	37	11	55873274	55873274	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55873274T>C	ENST00000313503.1	+	1	756	c.756T>C	c.(754-756)taT>taC	p.Y252Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCATCTTTTATAGCACTCTGA	0.368										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(754-756)taT>taC		olfactory receptor, family 8, subfamily H, member 2							90.0	90.0	90.0					11																	55873274		2201	4295	6496	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873274T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.756T>C	11.37:g.55873274T>C		HNSCC(53;0.14)					p.Y252Y	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	756	+	Esophageal squamous(21;0.00693)		252					Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.756T>C	CCDS31518.1																																																																																				0.368	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		10	132	0	0	0	1	0	10	132				
ANKRD30A	91074	broad.mit.edu	37	10	37508303	37508303	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:37508303T>C	ENST00000602533.1	+	34	3594	c.3495T>C	c.(3493-3495)ccT>ccC	p.P1165P	ANKRD30A_ENST00000361713.1_Silent_p.P1165P|ANKRD30A_ENST00000374660.1_Silent_p.P1284P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1221					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCAAGAACCTGCTTTCCACA	0.388																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3850-3852)ccT>ccC		ankyrin repeat domain 30A							69.0	64.0	66.0					10																	37508303		1873	4108	5981	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508303T>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3495T>C	10.37:g.37508303T>C						ANKRD30A_ENST00000602533.1_Silent_p.P1165P|ANKRD30A_ENST00000361713.1_Silent_p.P1165P	p.P1284P			Q9BXX3	AN30A_HUMAN			40	3951	+			1221					Q5W025	Silent	SNP	ENST00000602533.1	37	c.3852T>C																																																																																					0.388	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		11	98	0	0	0	1	0	11	98				
COL19A1	1310	broad.mit.edu	37	6	70881889	70881889	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:70881889G>C	ENST00000322773.4	+	41	2704	c.2602G>C	c.(2602-2604)Gaa>Caa	p.E868Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.E490Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	868	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCAGGATTAGAAGGATTTCC	0.363																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2602-2604)Gaa>Caa		collagen, type XIX, alpha 1							104.0	107.0	106.0					6																	70881889		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70881889G>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2602G>C	6.37:g.70881889G>C	ENSP00000316030:p.Glu868Gln					COL19A1_ENST00000393344.1_Missense_Mutation_p.E490Q	p.E868Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			41	2704	+			868			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2602G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321790	0.60634	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93811	-3.29;-3.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	N	0.10945	0.07	0.44825	D	0.997833	D	0.89917	1.0	D	0.83275	0.996	D	0.88946	0.3383	10	0.18710	T	0.47	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	868	Q14993	COJA1_HUMAN	Q	868;490	ENSP00000316030:E868Q;ENSP00000377013:E490Q	ENSP00000316030:E868Q	E	+	1	0	COL19A1	70938610	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.753000	0.68736	2.882000	0.98803	0.655000	0.94253	GAA		0.363	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			12	84	0	0	0	1	0	12	84				
ARRDC1	92714	broad.mit.edu	37	9	140509015	140509015	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:140509015C>G	ENST00000371421.4	+	7	864	c.800C>G	c.(799-801)tCt>tGt	p.S267C	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	267						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GTCCAGGTCTCTCTGAAGGCG	0.627																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(799-801)tCt>tGt		arrestin domain containing 1							50.0	59.0	56.0					9																	140509015		2201	4297	6498	SO:0001583	missense	92714							g.chr9:140509015C>G	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.800C>G	9.37:g.140509015C>G	ENSP00000360475:p.Ser267Cys					ARRDC1_ENST00000491911.1_3'UTR	p.S267C	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	7	864	+	all_cancers(76;0.106)		267						Missense_Mutation	SNP	ENST00000371421.4	37	c.800C>G	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	9.827	1.187347	0.21870	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.18016	2.24;2.24	5.03	5.03	0.67393	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.234953	0.45126	D	0.000395	T	0.27027	0.0662	L	0.50333	1.59	0.45634	D	0.998566	P;P;B	0.49862	0.929;0.51;0.347	P;B;B	0.49953	0.627;0.22;0.201	T	0.00872	-1.1532	10	0.40728	T	0.16	-9.8986	17.4218	0.87517	0.0:1.0:0.0:0.0	.	156;267;231	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	C	267;231	ENSP00000360475:S267C;ENSP00000406833:S231C	ENSP00000360475:S267C	S	+	2	0	ARRDC1	139628836	0.998000	0.40836	1.000000	0.80357	0.615000	0.37417	3.835000	0.55805	2.347000	0.79759	0.456000	0.33151	TCT		0.627	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		4	119	0	0	0	1	0	4	119				
GRINA	2907	broad.mit.edu	37	8	145065441	145065441	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:145065441C>T	ENST00000313269.5	+	2	328	c.50C>T	c.(49-51)cCc>cTc	p.P17L	GRINA_ENST00000395068.4_Missense_Mutation_p.P17L	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	17	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TATCCTCCCCCCAACCCTGGA	0.632																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(49-51)cCc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							35.0	39.0	38.0					8																	145065441		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145065441C>T	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.50C>T	8.37:g.145065441C>T	ENSP00000314380:p.Pro17Leu					GRINA_ENST00000395068.4_Missense_Mutation_p.P17L	p.P17L	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	328	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		17			Pro-rich.		B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.50C>T	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038284	0.08148	.	.	ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000530898	T;T;T	0.22539	1.95;1.97;1.95	4.92	1.89	0.25635	.	0.386896	0.25654	N	0.029182	T	0.11196	0.0273	N	0.19112	0.55	0.29509	N	0.854364	B	0.17038	0.02	B	0.14578	0.011	T	0.29119	-1.0022	10	0.13108	T	0.6	-9.7702	9.7373	0.40395	0.1462:0.5706:0.2832:0.0	.	17	Q7Z429	GRINA_HUMAN	L	17	ENSP00000314380:P17L;ENSP00000432706:P17L;ENSP00000378507:P17L	ENSP00000314380:P17L	P	+	2	0	GRINA	145137429	0.003000	0.15002	1.000000	0.80357	0.421000	0.31385	0.559000	0.23485	0.457000	0.26962	-0.529000	0.04317	CCC		0.632	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		9	43	0	0	0	1	0	9	43				
C5orf46	389336	broad.mit.edu	37	5	147276594	147276594	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:147276594C>G	ENST00000318315.4	-	3	226	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	C5orf46_ENST00000510432.1_Intron	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	76						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						TCATCAAATTCCATAAATCCT	0.323																																						ENST00000318315.4																			0				NS(1)|lung(1)|prostate(1)	3						c.(226-228)Gaa>Caa		chromosome 5 open reading frame 46							35.0	33.0	34.0					5																	147276594		2169	4231	6400	SO:0001583	missense	389336					extracellular region		g.chr5:147276594C>G		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"""skin and saliva secreted protein 1"""						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.226G>C	5.37:g.147276594C>G	ENSP00000315370:p.Glu76Gln					C5orf46_ENST00000510432.1_Intron	p.E76Q	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN			3	226	-			76					A8K038|Q8WU04	Missense_Mutation	SNP	ENST00000318315.4	37	c.226G>C	CCDS34267.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923993	0.52653	.	.	ENSG00000178776	ENST00000318315	T	0.58506	0.33	4.18	3.31	0.37934	.	0.162146	0.29459	N	0.012081	T	0.44685	0.1305	.	.	.	0.20403	N	0.999903	P	0.48016	0.904	B	0.38803	0.282	T	0.46331	-0.9199	9	0.87932	D	0	-9.7474	8.3136	0.32086	0.0:0.8931:0.0:0.1069	.	76	Q6UWT4	CE046_HUMAN	Q	76	ENSP00000315370:E76Q	ENSP00000315370:E76Q	E	-	1	0	C5orf46	147256787	0.163000	0.22920	0.057000	0.19452	0.422000	0.31414	1.104000	0.31074	1.343000	0.45638	0.563000	0.77884	GAA		0.323	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		7	33	0	0	0	1	0	7	33				
ALOX12B	242	broad.mit.edu	37	17	7983602	7983602	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7983602C>T	ENST00000319144.4	-	6	965	c.705G>A	c.(703-705)agG>agA	p.R235R	AC129492.6_ENST00000399413.3_Missense_Mutation_p.P95S|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	235	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGTCCTTCAGCCTCTTCCACG	0.577										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399413.3																			0				endometrium(2)	2						c.(283-285)Cct>Tct									100.0	116.0	110.0					17																	7983602		2203	4300	6503	SO:0001819	synonymous_variant	242							g.chr17:7983602C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.705G>A	17.37:g.7983602C>T			OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	ALOX12B_ENST00000319144.4_Silent_p.R235R	p.P95S							2	523	+									Missense_Mutation	SNP	ENST00000319144.4	37	c.283C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902421	0.52227	.	.	ENSG00000214999	ENST00000399413	.	.	.	4.32	-0.986	0.10252	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58741	-0.7583	5	0.87932	D	0	-8.7416	5.306	0.15803	0.0:0.427:0.1729:0.4001	.	.	.	.	S	95	.	ENSP00000382345:P95S	P	+	1	0	AC129492.6	7924327	0.992000	0.36948	0.997000	0.53966	0.976000	0.68499	-0.044000	0.12023	-0.016000	0.14127	-0.477000	0.04895	CCT		0.577	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			7	242	0	0	0	1	0	7	242				
QRFPR	84109	broad.mit.edu	37	4	122251588	122251588	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:122251588A>C	ENST00000394427.2	-	5	1299	c.888T>G	c.(886-888)atT>atG	p.I296M	QRFPR_ENST00000334383.5_Nonstop_Mutation_p.*259G|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	296					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CACTGTATTCAATCATCATAT	0.418																																						ENST00000334383.5																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(775-777)Tga>Gga		pyroglutamylated RFamide peptide receptor							129.0	119.0	123.0					4																	122251588		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122251588A>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.888T>G	4.37:g.122251588A>C	ENSP00000377948:p.Ile296Met					QRFPR_ENST00000394427.2_Missense_Mutation_p.I296M	p.*259G			Q96P65	QRFPR_HUMAN			5	806	-			0	VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).					Nonstop_Mutation	SNP	ENST00000394427.2	37	c.775T>G	CCDS3719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.410|2.410	-0.335539|-0.335539	0.05278|0.05278	.|.	.|.	ENSG00000186867|ENSG00000186867	ENST00000394427|ENST00000334383	T|.	0.71698|.	-0.59|.	5.68|5.68	-9.44|-9.44	0.00603|0.00603	GPCR, rhodopsin-like superfamily (1);|.	0.618546|.	0.18744|.	N|.	0.132367|.	T|.	0.14743|.	0.0356|.	N|N	0.16098|0.16098	0.37|0.37	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.12156|.	0.007|.	T|.	0.20338|.	-1.0278|.	10|.	0.46703|.	T|.	0.11|.	.|.	4.7678|4.7678	0.13141|0.13141	0.3718:0.34:0.2199:0.0684|0.3718:0.34:0.2199:0.0684	.|.	296|.	Q96P65|.	QRFPR_HUMAN|.	M|G	296|259	ENSP00000377948:I296M|.	ENSP00000377948:I296M|.	I|X	-|-	3|1	3|0	QRFPR|QRFPR	122471038|122471038	0.084000|0.084000	0.21492|0.21492	0.008000|0.008000	0.14137|0.14137	0.881000|0.881000	0.50899|0.50899	-0.533000|-0.533000	0.06157|0.06157	-1.228000|-1.228000	0.02568|0.02568	-0.441000|-0.441000	0.05720|0.05720	ATT|TGA		0.418	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		8	28	0	0	0	1	0	8	28				
SLC26A4	5172	broad.mit.edu	37	7	107353039	107353039	+	Missense_Mutation	SNP	C	C	T	rs150597240		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:107353039C>T	ENST00000265715.3	+	20	2515	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	SLC26A4_ENST00000541474.1_Missense_Mutation_p.T325M|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T333M|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T351M	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	764					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAGAGCTGACGGAAGAAGAA	0.323									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2290-2292)aCg>aTg		solute carrier family 26 (anion exchanger), member 4		C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	132.0	131.0	132.0		2291	-7.2	0.0	7	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC26A4	NM_000441.1	81	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	764/781	107353039	4,13002	2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107353039C>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2291C>T	7.37:g.107353039C>T	ENSP00000265715:p.Thr764Met					SLC26A4_ENST00000544569.1_Missense_Mutation_p.T351M|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T325M|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T333M	p.T764M	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			20	2515	+			764					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2291C>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	8.538	0.872600	0.17322	6.81E-4	1.16E-4	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94687	-3.18;-3.41;-3.48;-3.49	5.4	-7.22	0.01485	.	1.012730	0.07923	N	0.976112	D	0.82476	0.5045	N	0.08118	0	0.09310	N	1	P;P;P	0.42123	0.771;0.661;0.661	B;B;B	0.32980	0.156;0.074;0.074	T	0.75425	-0.3322	10	0.46703	T	0.11	.	10.1309	0.42678	0.2237:0.6194:0.0:0.1569	.	325;351;764	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	M	764;325;351;333	ENSP00000265715:T764M;ENSP00000439743:T325M;ENSP00000437427:T351M;ENSP00000441209:T333M	ENSP00000265715:T764M	T	+	2	0	SLC26A4	107140275	0.000000	0.05858	0.019000	0.16419	0.401000	0.30781	-0.336000	0.07863	-0.908000	0.03857	-0.484000	0.04775	ACG		0.323	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		4	137	0	0	0	1	0	4	137				
LAMA2	3908	broad.mit.edu	37	6	129781386	129781386	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:129781386G>A	ENST00000421865.2	+	49	6958	c.6909G>A	c.(6907-6909)atG>atA	p.M2303I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2303	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGCTGCATGGGAGAAACAT	0.388																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(6907-6909)atG>atA		laminin, alpha 2							139.0	126.0	130.0					6																	129781386		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129781386G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6909G>A	6.37:g.129781386G>A	ENSP00000400365:p.Met2303Ile						p.M2303I	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	6958	+			2303			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6909G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129706	0.94473	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.33654	1.4	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.033833	0.85682	D	0.000000	T	0.37571	0.1008	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.77004	0.989;0.989	T	0.11372	-1.0590	9	.	.	.	.	20.0661	0.97704	0.0:0.0:1.0:0.0	.	2304;2303	A6NF00;P24043	.;LAMA2_HUMAN	I	2303;2302;2303;321	ENSP00000400365:M2303I	.	M	+	3	0	LAMA2	129823079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.467000	0.97671	2.730000	0.93505	0.650000	0.86243	ATG		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			12	156	0	0	0	1	0	12	156				
TRANK1	9881	broad.mit.edu	37	3	36897743	36897743	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:36897743T>A	ENST00000429976.2	-	12	3585	c.3338A>T	c.(3337-3339)gAg>gTg	p.E1113V	TRANK1_ENST00000301807.6_Missense_Mutation_p.E563V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E563V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1113	Glu-rich.						ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCTTCATACTCCTGCTCATC	0.542																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3337-3339)gAg>gTg		tetratricopeptide repeat and ankyrin repeat containing 1							31.0	34.0	33.0					3																	36897743		2043	4187	6230	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897743T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3338A>T	3.37:g.36897743T>A	ENSP00000416168:p.Glu1113Val					TRANK1_ENST00000428977.2_Missense_Mutation_p.E563V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E563V	p.E1113V			O15050	TRNK1_HUMAN			12	3585	-			1113			Glu-rich.		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3338A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	5.697	0.313102	0.10789	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35973	1.28;1.69;1.28	5.31	4.16	0.48862	.	0.305991	0.28016	N	0.016923	T	0.27313	0.0670	L	0.44542	1.39	0.22266	N	0.99925	P	0.37864	0.61	B	0.34991	0.193	T	0.10497	-1.0627	10	0.32370	T	0.25	.	9.0474	0.36356	0.0:0.0856:0.0:0.9144	.	1113	O15050	TRNK1_HUMAN	V	563;1113;563	ENSP00000416826:E563V;ENSP00000416168:E1113V;ENSP00000301807:E563V	ENSP00000301807:E563V	E	-	2	0	TRANK1	36872747	0.639000	0.27234	0.383000	0.26132	0.043000	0.13939	2.242000	0.43106	0.980000	0.38523	0.459000	0.35465	GAG		0.542	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		3	23	0	0	0	1	0	3	23				
PRKACG	5568	broad.mit.edu	37	9	71628163	71628163	+	Silent	SNP	G	G	A	rs372968774		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:71628163G>A	ENST00000377276.2	-	1	876	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGGTTTCCGAAGCGCTTGG	0.567																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(844-846)ttC>ttT		protein kinase, cAMP-dependent, catalytic, gamma		G		1,4405	2.1+/-5.4	0,1,2202	98.0	97.0	97.0		846	-2.4	0.0	9		97	0,8600		0,0,4300	no	coding-synonymous	PRKACG	NM_002732.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		282/352	71628163	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628163G>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.846C>T	9.37:g.71628163G>A							p.F282F	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	876	-			282			Protein kinase.		O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.846C>T	CCDS6625.1																																																																																				0.567	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			9	131	0	0	0	1	0	9	131				
METTL8	79828	broad.mit.edu	37	2	172187154	172187154	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:172187154C>T	ENST00000375258.4	-	7	990	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	259						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGCCATCATCACATACATCA	0.423																																						ENST00000375258.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						c.(775-777)Gat>Aat		methyltransferase like 8							121.0	104.0	110.0					2																	172187154		2203	4300	6503	SO:0001583	missense	79828						methyltransferase activity	g.chr2:172187154C>T	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.775G>A	2.37:g.172187154C>T	ENSP00000364407:p.Asp259Asn						p.D259N			B3KW44	B3KW44_HUMAN			7	990	-			259					Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37	c.775G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.702750	0.88924	.	.	ENSG00000123600	ENST00000375258;ENST00000392599	T;T	0.24908	3.67;1.83	6.17	5.3	0.74995	Methyltransferase type 11 (1);	0.151679	0.64402	D	0.000016	T	0.40119	0.1104	L	0.39326	1.205	0.54753	D	0.999989	D;B;D	0.89917	1.0;0.392;1.0	D;B;D	0.83275	0.996;0.262;0.993	T	0.11717	-1.0576	10	0.14656	T	0.56	-2.3949	15.5517	0.76158	0.0:0.9345:0.0:0.0655	.	214;259;259	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	N	259;221	ENSP00000364407:D259N;ENSP00000376377:D221N	ENSP00000364407:D259N	D	-	1	0	METTL8	171895400	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.985000	0.70556	1.635000	0.50512	0.655000	0.94253	GAT		0.423	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		5	69	0	0	0	1	0	5	69				
GRM3	2913	broad.mit.edu	37	7	86468859	86468859	+	Missense_Mutation	SNP	G	G	T	rs563221454		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86468859G>T	ENST00000361669.2	+	4	3128	c.2029G>T	c.(2029-2031)Gct>Tct	p.A677S	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A549S|GRM3_ENST00000546348.1_Missense_Mutation_p.A269S|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	677					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.A677T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAAGAATGGCGCTCAGAGGCC	0.547																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			1	Substitution - Missense(1)	p.A677T(1)	large_intestine(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2029-2031)Gct>Tct		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						84.0	81.0	82.0					7																	86468859		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468859G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2029G>T	7.37:g.86468859G>T	ENSP00000355316:p.Ala677Ser					GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269S|GRM3_ENST00000536043.1_Missense_Mutation_p.A549S	p.A677S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3128	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		677					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2029G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918923	0.73098	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87729	-2.29;-2.29;-2.29	5.69	4.81	0.61882	GPCR, family 3, C-terminal (2);	0.093168	0.64402	N	0.000001	D	0.86581	0.5967	N	0.11789	0.175	0.80722	D	1	D;D;P	0.65815	0.995;0.964;0.949	D;P;P	0.68943	0.961;0.897;0.877	D	0.89000	0.3421	10	0.87932	D	0	.	13.7075	0.62648	0.0739:0.0:0.9261:0.0	.	269;549;677	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	677;269;549	ENSP00000355316:A677S;ENSP00000444064:A269S;ENSP00000441407:A549S	ENSP00000355316:A677S	A	+	1	0	GRM3	86306795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.609000	0.98334	1.413000	0.46997	0.563000	0.77884	GCT		0.547	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			14	95	1	0	3.27435e-08	1	3.57003e-08	14	95				
LILRA3	11026	broad.mit.edu	37	19	54803281	54803281	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:54803281G>A	ENST00000251390.3	-	4	487	c.396C>T	c.(394-396)agC>agT	p.S132S	LILRA3_ENST00000391745.1_Silent_p.S149S|LILRA3_ENST00000391744.3_Silent_p.S132S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	132	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACCACAGGGCTGGGCAGAG	0.567																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(445-447)agC>agT		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							122.0	104.0	111.0					19																	54803281		2194	4175	6369	SO:0001819	synonymous_variant	11026							g.chr19:54803281G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.396C>T	19.37:g.54803281G>A						LILRA3_ENST00000391744.3_Silent_p.S132S|LILRA3_ENST00000251390.3_Silent_p.S132S	p.S149S						GBM - Glioblastoma multiforme(193;0.105)	8	763	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.447C>T	CCDS12887.1																																																																																				0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			35	189	0	0	0	1	0	35	189				
SRSF4	6429	broad.mit.edu	37	1	29486926	29486926	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:29486926G>A	ENST00000373795.4	-	2	445	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	SRSF4_ENST00000546138.1_Missense_Mutation_p.R71C|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	71	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CGTGGGCCGCGGGCATGCTCA	0.448																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(211-213)Cgc>Tgc		serine/arginine-rich splicing factor 4							160.0	138.0	145.0					1																	29486926		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29486926G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.211C>T	1.37:g.29486926G>A	ENSP00000362900:p.Arg71Cys					SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_Missense_Mutation_p.R71C	p.R71C	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			2	445	-			71			RRM 1.		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.211C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329972	0.60743	.	.	ENSG00000116350	ENST00000373795;ENST00000434636;ENST00000546138	T;T	0.75938	3.25;-0.98	5.37	4.46	0.54185	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.108387	0.64402	D	0.000014	D	0.88377	0.6420	H	0.94306	3.52	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.961	D	0.89731	0.3926	10	0.87932	D	0	.	9.8469	0.41032	0.0742:0.0:0.7876:0.1382	.	71;71	F6T1J1;Q08170	.;SRSF4_HUMAN	C	71	ENSP00000362900:R71C;ENSP00000444600:R71C	ENSP00000362900:R71C	R	-	1	0	SRSF4	29359513	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	3.345000	0.52182	1.255000	0.44051	0.655000	0.94253	CGC		0.448	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		4	110	0	0	0	1	0	4	110				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	54	0	0	0	1	0	4	54				
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7579485C>A	ENST00000269305.4	-	4	391	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E68*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAGCAGCCTCTGGCATTCTG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		32	Substitution - Nonsense(10)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)	lung(7)|breast(5)|liver(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(202-204)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							112.0	119.0	116.0					17																	7579485		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579485C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.202G>T	17.37:g.7579485C>A	ENSP00000269305:p.Glu68*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*	p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	334	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	68		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.202G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762783	0.49574	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.66	0.49	0.16861	.	1.646800	0.04867	N	0.445250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	0.0106	5.9189	0.19070	0.0:0.6483:0.0:0.3517	.	.	.	.	X	68	.	ENSP00000269305:E68X	E	-	1	0	TP53	7520210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.023000	0.13533	0.156000	0.19299	0.561000	0.74099	GAG		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	204	1	0	4.4194e-11	1	4.88382e-11	33	204				
MAGEB1	4112	broad.mit.edu	37	X	30269420	30269420	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:30269420C>A	ENST00000378981.3	+	4	1131	c.810C>A	c.(808-810)ttC>ttA	p.F270L	MAGEB1_ENST00000397550.1_Missense_Mutation_p.F270L|MAGEB1_ENST00000397548.2_Missense_Mutation_p.F270L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	270	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCTATCAATTCCTATGGGGTC	0.507																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(808-810)ttC>ttA		melanoma antigen family B, 1							107.0	94.0	99.0					X																	30269420		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269420C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.810C>A	X.37:g.30269420C>A	ENSP00000368264:p.Phe270Leu					MAGEB1_ENST00000397548.2_Missense_Mutation_p.F270L|MAGEB1_ENST00000397550.1_Missense_Mutation_p.F270L	p.F270L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	1131	+			270			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.810C>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918593	0.33908	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.05649	3.41;3.41;3.41	3.99	0.307	0.15811	.	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	M	0.87682	2.9	0.20307	N	0.999913	D	0.89917	1.0	D	0.97110	1.0	T	0.03008	-1.1083	10	0.54805	T	0.06	.	6.1548	0.20332	0.0:0.5142:0.0:0.4858	.	270	P43366	MAGB1_HUMAN	L	270	ENSP00000368264:F270L;ENSP00000380683:F270L;ENSP00000380681:F270L	ENSP00000368264:F270L	F	+	3	2	MAGEB1	30179341	0.092000	0.21681	0.340000	0.25575	0.242000	0.25591	-0.303000	0.08210	-0.081000	0.12662	0.600000	0.82982	TTC		0.507	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		11	135	1	0	6.40141e-05	1	6.73181e-05	11	135				
MAG	4099	broad.mit.edu	37	19	35801000	35801000	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:35801000C>T	ENST00000392213.3	+	8	1614	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Silent_p.R485R|MAG_ENST00000537831.2_Silent_p.R460R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	485	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1453-1455)cgC>cgT		myelin associated glycoprotein							34.0	34.0	34.0					19																	35801000		2202	4296	6498	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35801000C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1455C>T	19.37:g.35801000C>T						MAG_ENST00000537831.2_Silent_p.R460R|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Silent_p.R485R	p.R485R	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1605	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	485			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1455C>T	CCDS12455.1																																																																																				0.697	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		24	74	0	0	0	1	0	24	74				
CCDC132	55610	broad.mit.edu	37	7	92970836	92970836	+	Missense_Mutation	SNP	C	C	G	rs549768202		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:92970836C>G	ENST00000305866.5	+	23	2284	c.2156C>G	c.(2155-2157)tCt>tGt	p.S719C	CCDC132_ENST00000535481.1_Missense_Mutation_p.S439C|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.S689C|CCDC132_ENST00000541136.1_Missense_Mutation_p.S530C	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	719						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTTGACATCTGGGGATACG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18431	0.001		0.0	False		,,,				2504	0.0					ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2065-2067)tCt>tGt		coiled-coil domain containing 132							133.0	142.0	139.0					7																	92970836		1970	4160	6130	SO:0001583	missense	55610							g.chr7:92970836C>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2156C>G	7.37:g.92970836C>G	ENSP00000307666:p.Ser719Cys					CCDC132_ENST00000305866.5_Missense_Mutation_p.S719C|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.S530C|CCDC132_ENST00000535481.1_Missense_Mutation_p.S439C	p.S689C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2286	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		719					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2066C>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598817	0.46318	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.69	4.82	0.62117	.	0.215721	0.49916	D	0.000125	T	0.38612	0.1047	N	0.14661	0.345	0.80722	D	1	P;P;P	0.42620	0.454;0.785;0.679	B;B;B	0.43331	0.237;0.416;0.237	T	0.38672	-0.9650	9	0.62326	D	0.03	-15.7322	10.0965	0.42478	0.1356:0.7956:0.0:0.0688	.	439;689;719	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	C	719;689;530;439	.	ENSP00000307666:S719C	S	+	2	0	CCDC132	92808772	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.439000	0.44846	1.565000	0.49641	0.655000	0.94253	TCT		0.453	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		11	101	0	0	0	1	0	11	101				
SLAMF1	6504	broad.mit.edu	37	1	160604531	160604531	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:160604531G>T	ENST00000302035.6	-	3	921	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	SLAMF1_ENST00000538290.1_Missense_Mutation_p.S191Y|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S191Y|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S191Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	191	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGGAGGTGGGAGCTGTTGGC	0.587																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(571-573)tCc>tAc		signaling lymphocytic activation molecule family member 1							136.0	126.0	130.0					1																	160604531		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604531G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.572C>A	1.37:g.160604531G>T	ENSP00000306190:p.Ser191Tyr					SLAMF1_ENST00000355199.3_Missense_Mutation_p.S191Y|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S191Y|SLAMF1_ENST00000538290.1_Missense_Mutation_p.S191Y	p.S191Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	921	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		191			Ig-like C2-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.572C>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689241	0.68271	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.3	4.3	0.51218	Immunoglobulin-like (1);	0.495276	0.21219	N	0.078171	T	0.70561	0.3238	M	0.89534	3.04	0.45066	D	0.998085	D	0.89917	1.0	D	0.68621	0.959	T	0.75808	-0.3187	10	0.87932	D	0	-14.8881	12.5815	0.56393	0.0:0.0:1.0:0.0	.	191	Q13291	SLAF1_HUMAN	Y	191	ENSP00000306190:S191Y;ENSP00000235739:S191Y;ENSP00000438406:S191Y;ENSP00000347333:S191Y	ENSP00000235739:S191Y	S	-	2	0	SLAMF1	158871155	0.454000	0.25728	0.962000	0.40283	0.978000	0.69477	2.643000	0.46604	2.680000	0.91292	0.650000	0.86243	TCC		0.587	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			16	73	1	0	4.7546e-09	1	5.21886e-09	16	73				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	87	0	0	0	1	0	19	87				
KCNAB1	7881	broad.mit.edu	37	3	156175302	156175302	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:156175302G>A	ENST00000490337.1	+	4	482	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.E122K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E129K|KCNAB1_ENST00000302490.8_Missense_Mutation_p.E122K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E140K	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	140					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGATACTGCCGAAGTCTATGC	0.473																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(364-366)Gaa>Aaa		potassium voltage-gated channel, shaker-related subfamily, beta member 1							245.0	213.0	224.0					3																	156175302		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156175302G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.418G>A	3.37:g.156175302G>A	ENSP00000419952:p.Glu140Lys					KCNAB1_ENST00000389634.5_Missense_Mutation_p.E122K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E140K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.E140K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E129K	p.E122K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	1235	+			140					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.364G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812048	0.90707	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.48	5.48	0.80851	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.987;0.999;0.999;0.999	T	0.77566	-0.2540	10	0.87932	D	0	-11.1493	14.8543	0.70323	0.0:0.0:1.0:0.0	.	140;122;122;129;140	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	K	58;140;140;129;83;122;122	ENSP00000420755:E58K;ENSP00000419952:E140K;ENSP00000374287:E140K;ENSP00000418956:E129K;ENSP00000420221:E83K;ENSP00000305858:E122K;ENSP00000374285:E122K	ENSP00000305858:E122K	E	+	1	0	KCNAB1	157657996	1.000000	0.71417	0.946000	0.38457	0.862000	0.49288	7.919000	0.87513	2.554000	0.86153	0.655000	0.94253	GAA		0.473	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		20	236	0	0	0	1	0	20	236				
KNDC1	85442	broad.mit.edu	37	10	135020263	135020263	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:135020263G>T	ENST00000304613.3	+	18	3483	c.3462G>T	c.(3460-3462)caG>caT	p.Q1154H	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1156H|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q1089H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1154					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTCTTACAGAAGGAAAAGA	0.572																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3460-3462)caG>caT		kinase non-catalytic C-lobe domain (KIND) containing 1							87.0	97.0	94.0					10																	135020263		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020263G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3462G>T	10.37:g.135020263G>T	ENSP00000304437:p.Gln1154His					KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1156H|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q1089H	p.Q1154H			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	18	3483	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1154					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3462G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978809	0.53720	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.22336	1.96;1.96;1.96	4.81	2.94	0.34122	.	0.080255	0.51477	U	0.000096	T	0.27559	0.0677	M	0.64997	1.995	0.29110	N	0.880925	P;B	0.41784	0.762;0.192	P;B	0.47346	0.544;0.09	T	0.07139	-1.0788	10	0.40728	T	0.16	-30.7442	9.1639	0.37038	0.1822:0.0:0.8178:0.0	.	1089;1154	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	H	1154;1156;1089	ENSP00000304437:Q1154H;ENSP00000357561:Q1156H;ENSP00000357560:Q1089H	ENSP00000304437:Q1154H	Q	+	3	2	KNDC1	134870253	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	0.842000	0.27627	0.557000	0.29117	0.537000	0.68136	CAG		0.572	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		13	130	1	0	3.27435e-08	1	3.57003e-08	13	130				
TERT	7015	broad.mit.edu	37	5	1264629	1264629	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:1264629G>A	ENST00000310581.5	-	11	2790	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	911	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCAGGGCCTCGTCTTCTACAG	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2731-2733)gaC>gaT		telomerase reverse transcriptase							72.0	82.0	78.0					5																	1264629		2114	4212	6326	SO:0001819	synonymous_variant	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1264629G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2733C>T	5.37:g.1264629G>A						TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	p.D911D	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2790	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		911			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2733C>T	CCDS3861.2																																																																																				0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			10	112	0	0	0	1	0	10	112				
SEMA4D	10507	broad.mit.edu	37	9	91994243	91994243	+	Silent	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:91994243G>T	ENST00000450295.1	-	16	2741	c.1965C>A	c.(1963-1965)gcC>gcA	p.A655A	SEMA4D_ENST00000356444.2_Silent_p.A655A|SEMA4D_ENST00000438547.2_Silent_p.A655A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A655A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	655					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACAAGGTGGGGGCCACTACGG	0.562																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1963-1965)gcC>gcA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							128.0	135.0	133.0					9																	91994243		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994243G>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1965C>A	9.37:g.91994243G>T						SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A655A|SEMA4D_ENST00000438547.2_Silent_p.A655A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.A655A|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron	p.A655A			Q92854	SEM4D_HUMAN			16	2741	-			655					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1965C>A	CCDS6685.1																																																																																				0.562	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		61	228	1	0	1.24741e-17	1	1.41691e-17	61	228				
MYOZ2	51778	broad.mit.edu	37	4	120079303	120079303	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:120079303C>G	ENST00000307128.5	+	4	586	c.373C>G	c.(373-375)Cca>Gca	p.P125A		NM_016599.4	NP_057683.1			myozenin 2									p.P125S(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAACATTGCTCCAGGTAACCA	0.433																																						ENST00000307128.5																			1	Substitution - Missense(1)	p.P125S(1)	skin(1)	endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(373-375)Cca>Gca		myozenin 2							118.0	112.0	114.0					4																	120079303		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079303C>G	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.373C>G	4.37:g.120079303C>G	ENSP00000306997:p.Pro125Ala						p.P125A	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			4	586	+			125						Missense_Mutation	SNP	ENST00000307128.5	37	c.373C>G	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872154	0.91587	.	.	ENSG00000172399	ENST00000307128	T	0.74526	-0.85	5.55	5.55	0.83447	.	0.227420	0.46442	D	0.000284	T	0.81128	0.4758	L	0.59912	1.85	0.80722	D	1	D	0.54397	0.966	P	0.53689	0.732	T	0.82102	-0.0623	10	0.59425	D	0.04	-11.8046	19.4973	0.95079	0.0:1.0:0.0:0.0	.	125	Q9NPC6	MYOZ2_HUMAN	A	125	ENSP00000306997:P125A	ENSP00000306997:P125A	P	+	1	0	MYOZ2	120298751	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.801000	0.75170	2.608000	0.88229	0.655000	0.94253	CCA		0.433	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			4	102	0	0	0	1	0	4	102				
CYP2C18	1562	broad.mit.edu	37	10	96484146	96484146	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:96484146G>C	ENST00000285979.6	+	7	1204	c.1005G>C	c.(1003-1005)cgG>cgC	p.R335R	CYP2C18_ENST00000339022.5_Silent_p.R276R|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	335					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GCAGAAACCGGAGCCCCTGTA	0.483																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1003-1005)cgG>cgC		cytochrome P450, family 2, subfamily C, polypeptide 18							192.0	167.0	176.0					10																	96484146		2203	4300	6503	SO:0001819	synonymous_variant	1562							g.chr10:96484146G>C	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1005G>C	10.37:g.96484146G>C						CYP2C18_ENST00000339022.5_Silent_p.R276R|CYP2C19_ENST00000464755.1_3'UTR	p.R335R	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	7	1204	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.1005G>C	CCDS7435.1																																																																																				0.483	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		5	150	0	0	0	1	0	5	150				
SLITRK3	22865	broad.mit.edu	37	3	164908111	164908111	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:164908111G>A	ENST00000475390.1	-	2	951	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R170W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	170					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTAGGTTCCGAAATGCCCCA	0.388										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(508-510)Cgg>Tgg		SLIT and NTRK-like family, member 3							69.0	67.0	68.0					3																	164908111		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908111G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.508C>T	3.37:g.164908111G>A	ENSP00000420091:p.Arg170Trp	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R170W	p.R170W			O94933	SLIK3_HUMAN			2	951	-			170					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.508C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301181	0.40694	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53423	0.62;0.62	5.99	4.18	0.49190	.	0.000000	0.34700	N	0.003741	T	0.65154	0.2664	M	0.63843	1.955	0.41223	D	0.986524	D	0.89917	1.0	D	0.77557	0.99	T	0.68243	-0.5460	10	0.72032	D	0.01	-15.3515	14.2168	0.65797	0.0:0.0:0.6072:0.3928	.	170	O94933	SLIK3_HUMAN	W	170	ENSP00000420091:R170W;ENSP00000241274:R170W	ENSP00000241274:R170W	R	-	1	2	SLITRK3	166390805	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.551000	0.45820	0.843000	0.35070	-0.181000	0.13052	CGG		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		15	153	0	0	0	1	0	15	153				
TSPYL5	85453	broad.mit.edu	37	8	98289592	98289592	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:98289592G>C	ENST00000322128.3	-	1	584	c.481C>G	c.(481-483)Cag>Gag	p.Q161E		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	161					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCTATGACCTGAGGCCCCCTC	0.642																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(481-483)Cag>Gag		TSPY-like 5							58.0	69.0	65.0					8																	98289592		2203	4298	6501	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289592G>C	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.481C>G	8.37:g.98289592G>C	ENSP00000322802:p.Gln161Glu						p.Q161E	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	584	-	Breast(36;2.56e-06)		161					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.481C>G	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742272	0.15642	.	.	ENSG00000180543	ENST00000322128	T	0.15952	2.38	3.81	2.92	0.33932	.	0.607925	0.12557	N	0.458468	T	0.10809	0.0264	L	0.31578	0.945	0.09310	N	1	B	0.30482	0.281	B	0.24269	0.052	T	0.26815	-1.0092	10	0.15499	T	0.54	-5.0373	9.4545	0.38747	0.0:0.2162:0.7838:0.0	.	161	Q86VY4	TSYL5_HUMAN	E	161	ENSP00000322802:Q161E	ENSP00000322802:Q161E	Q	-	1	0	TSPYL5	98358768	0.074000	0.21230	0.025000	0.17156	0.099000	0.18886	1.889000	0.39718	1.159000	0.42565	0.650000	0.86243	CAG		0.642	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		18	98	0	0	0	1	0	18	98				
TBC1D25	4943	broad.mit.edu	37	X	48417605	48417605	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:48417605C>G	ENST00000376771.4	+	5	917	c.576C>G	c.(574-576)gtC>gtG	p.V192V	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	192					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGGAAGATGTCAAGCCCTTCA	0.587																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(574-576)gtC>gtG		TBC1 domain family, member 25							102.0	76.0	85.0					X																	48417605		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48417605C>G	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.576C>G	X.37:g.48417605C>G						TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000427713.1_3'UTR	p.V192V	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			5	917	+			192					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.576C>G	CCDS35242.1																																																																																				0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		7	38	0	0	0	1	0	7	38				
PHAX	51808	broad.mit.edu	37	5	125939445	125939445	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:125939445C>G	ENST00000297540.4	+	2	975	c.280C>G	c.(280-282)Cca>Gca	p.P94A	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	94	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TCCTCCCAAACCAGAGCCTTT	0.433																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(280-282)Cca>Gca		phosphorylated adaptor for RNA export							98.0	99.0	99.0					5																	125939445		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125939445C>G	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.280C>G	5.37:g.125939445C>G	ENSP00000297540:p.Pro94Ala					PHAX_ENST00000514725.1_3'UTR	p.P94A	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			2	975	+			94			Necessary for interaction with CBP80 (By similarity).		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.280C>G	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675172	0.14841	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.23552	1.9	5.74	2.86	0.33363	.	0.477910	0.24674	N	0.036533	T	0.11836	0.0288	N	0.14661	0.345	0.27071	N	0.963325	B	0.13145	0.007	B	0.06405	0.002	T	0.30534	-0.9975	10	0.10902	T	0.67	-29.7861	7.7118	0.28682	0.0:0.6788:0.1188:0.2024	.	94	Q9H814	PHAX_HUMAN	A	94	ENSP00000297540:P94A	ENSP00000297540:P94A	P	+	1	0	PHAX	125967344	0.008000	0.16893	0.980000	0.43619	0.969000	0.65631	0.574000	0.23714	0.780000	0.33566	0.655000	0.94253	CCA		0.433	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		13	131	0	0	0	1	0	13	131				
HNRNPLL	92906	broad.mit.edu	37	2	38795410	38795410	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:38795410C>T	ENST00000449105.3	-	12	1843	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	HNRNPLL_ENST00000409636.1_Missense_Mutation_p.E497K|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.E468K|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.E468K|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.E502K			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	502					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CACTCCCATTCTAATAGCCCA	0.358																																						ENST00000449105.2																			0											c.(1504-1506)Gaa>Aaa		heterogeneous nuclear ribonucleoprotein L-like							101.0	95.0	97.0					2																	38795410		2203	4300	6503	SO:0001583	missense	92906							g.chr2:38795410C>T	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1504G>A	2.37:g.38795410C>T	ENSP00000390625:p.Glu502Lys					HNRNPLL_ENST00000409636.1_Missense_Mutation_p.E497K|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.E468K|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.E468K	p.E502K	NM_138394.3	NP_612403.2					12	1843	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37	c.1504G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.613370|5.613370	0.96637|0.96637	.|.	.|.	ENSG00000143889|ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000417371|ENST00000441689	T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75613|0.75613	0.3873|0.3873	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.69479|.	0.964;0.964;0.909|.	T|T	0.73235|0.73235	-0.4047|-0.4047	10|5	0.87932|.	D|.	0|.	-8.6393|-8.6393	19.7161|19.7161	0.96121|0.96121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	497;502;502|.	C9J9G0;D6W592;Q8WVV9|.	.;.;HNRLL_HUMAN|.	K|K	502;497;468;468;54|108	ENSP00000390625:E502K;ENSP00000387088:E497K;ENSP00000368195:E468K;ENSP00000386575:E468K;ENSP00000395289:E54K|.	ENSP00000368195:E468K|.	E|R	-|-	1|2	0|0	HNRPLL|HNRPLL	38648914|38648914	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.945000|0.945000	0.59286|0.59286	7.535000|7.535000	0.82014|0.82014	2.657000|2.657000	0.90304|0.90304	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.358	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		4	163	0	0	0	1	0	4	163				
PMS2P3	5387	broad.mit.edu	37	7	75157033	75157033	+	RNA	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:75157033C>A	ENST00000418756.1	-	0	420					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						GGGGCCCGGGCCGGGCCTACG	0.721																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1															6.0	7.0	6.0					7																	75157033		857	1931	2788			5387							g.chr7:75157033C>A	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75157033C>A								NR_028059.1						0	420	-								A6NG70|Q3MJ29	RNA	SNP	ENST00000418756.1	37																																																																																						0.721	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		7	8	1	0	8.12818e-05	1	8.46578e-05	7	8				
AKAP9	10142	broad.mit.edu	37	7	91651660	91651660	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:91651660G>A	ENST00000359028.2	+	14	4207	c.3982G>A	c.(3982-3984)Gac>Aac	p.D1328N	AKAP9_ENST00000356239.3_Missense_Mutation_p.D1316N|AKAP9_ENST00000358100.2_Missense_Mutation_p.D1328N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1328					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATTTGGAAGACATTGGTAA	0.328			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(3982-3984)Gac>Aac		A kinase (PRKA) anchor protein 9							87.0	89.0	88.0					7																	91651660		2203	4299	6502	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91651660G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3982G>A	7.37:g.91651660G>A	ENSP00000351922:p.Asp1328Asn					AKAP9_ENST00000358100.2_Missense_Mutation_p.D1328N|AKAP9_ENST00000356239.3_Missense_Mutation_p.D1316N	p.D1328N			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		14	4207	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1328					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.3982G>A		.	.	.	.	.	.	.	.	.	.	G	9.893	1.204864	0.22205	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03094	4.05;4.05;4.05	4.26	1.89	0.25635	.	0.554704	0.15137	N	0.278485	T	0.04003	0.0112	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.35201	-0.9798	10	0.56958	D	0.05	.	7.3428	0.26646	0.2023:0.0:0.7977:0.0	.	1328;1316;1316;1328	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	N	1316;1328;1328;1328;1328	ENSP00000348573:D1316N;ENSP00000351922:D1328N;ENSP00000350813:D1328N	ENSP00000348573:D1316N	D	+	1	0	AKAP9	91489596	0.204000	0.23447	0.018000	0.16275	0.389000	0.30415	0.516000	0.22817	0.297000	0.22615	0.655000	0.94253	GAC		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		23	67	0	0	0	1	0	23	67				
CFHR3	10878	broad.mit.edu	37	1	196748421	196748421	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:196748421C>T	ENST00000367425.4	+	2	280	c.188C>T	c.(187-189)tCa>tTa	p.S63L	CFHR3_ENST00000471440.2_Missense_Mutation_p.S63L|CFHR3_ENST00000391985.3_Missense_Mutation_p.S63L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	63	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GAGACTCCTTCAGGAAGTTAC	0.393																																						ENST00000471440.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(187-189)tCa>tTa		complement factor H-related 3							89.0	101.0	97.0					1																	196748421		1918	4138	6056	SO:0001583	missense	10878							g.chr1:196748421C>T	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.188C>T	1.37:g.196748421C>T	ENSP00000356395:p.Ser63Leu					CFHR3_ENST00000391985.3_Missense_Mutation_p.S63L|CFHR3_ENST00000367425.4_Missense_Mutation_p.S63L	p.S63L							2	262	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.188C>T	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	14.40	2.522760	0.44866	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.72725	-0.68;-0.68;-0.68	2.86	0.662	0.17880	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.82360	0.5020	M	0.88704	2.975	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.981	T	0.67665	-0.5612	9	0.87932	D	0	.	3.5985	0.08016	0.0:0.5764:0.2649:0.1587	.	63;63;63	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	L	63	ENSP00000356395:S63L;ENSP00000436258:S63L;ENSP00000375845:S63L	ENSP00000356395:S63L	S	+	2	0	CFHR3	195015044	0.002000	0.14202	0.004000	0.12327	0.181000	0.23173	1.281000	0.33214	0.555000	0.29079	0.184000	0.17185	TCA		0.393	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		5	66	0	0	0	1	0	5	66				
HIST1H2BO	8348	broad.mit.edu	37	6	27861360	27861360	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:27861360C>G	ENST00000303806.4	+	1	158	c.120C>G	c.(118-120)atC>atG	p.I40M	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	40					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I40M(1)									GTTACTCTATCTACGTGTACA	0.542																																						ENST00000303806.4																			1	Substitution - Missense(1)	p.I40M(1)	haematopoietic_and_lymphoid_tissue(1)								c.(118-120)atC>atG		histone cluster 1, H2bo							152.0	139.0	143.0					6																	27861360		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861360C>G	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.120C>G	6.37:g.27861360C>G	ENSP00000303408:p.Ile40Met						p.I40M	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	158	+			40					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.120C>G	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	6.731	0.503628	0.12822	.	.	ENSG00000196331	ENST00000303806	T	0.23754	1.89	3.55	-3.7	0.04437	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.05640	0.0148	N	0.17248	0.465	0.19775	N	0.99996	B	0.13145	0.007	B	0.12156	0.007	T	0.30909	-0.9962	9	0.31617	T	0.26	.	15.747	0.77953	0.0:0.1785:0.7447:0.0768	.	40	P23527	H2B1O_HUMAN	M	40	ENSP00000303408:I40M	ENSP00000303408:I40M	I	+	3	3	HIST1H2BO	27969339	0.061000	0.20836	0.054000	0.19295	0.303000	0.27691	-0.912000	0.04046	-0.884000	0.03976	-0.264000	0.10439	ATC		0.542	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		6	207	0	0	0	1	0	6	207				
GOLGA4	2803	broad.mit.edu	37	3	37366600	37366600	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:37366600G>A	ENST00000361924.2	+	14	3597	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1097K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1075	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1075K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGGTAGCAGAACTGAAACA	0.363																																						ENST00000361924.2																			1	Substitution - Missense(1)	p.E1075K(1)	central_nervous_system(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3223-3225)Gaa>Aaa		golgin A4							68.0	64.0	65.0					3																	37366600		2201	4299	6500	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366600G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3223G>A	3.37:g.37366600G>A	ENSP00000354486:p.Glu1075Lys					GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1097K|GOLGA4_ENST00000444882.1_Intron	p.E1075K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	3597	+			1075			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3223G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874454	0.72180	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.30448	1.53;1.53;1.55	5.38	4.49	0.54785	.	0.207333	0.24113	N	0.041433	T	0.49167	0.1541	M	0.70275	2.135	0.47341	D	0.999394	D;D;D;P	0.58620	0.983;0.983;0.983;0.78	P;P;P;B	0.56865	0.808;0.651;0.755;0.265	T	0.48410	-0.9038	10	0.34782	T	0.22	.	16.2912	0.82752	0.0:0.1324:0.8676:0.0	.	1075;1075;1097;1075	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1075;1097;946	ENSP00000354486:E1075K;ENSP00000349305:E1097K;ENSP00000405842:E946K	ENSP00000349305:E1097K	E	+	1	0	GOLGA4	37341604	1.000000	0.71417	0.214000	0.23707	0.912000	0.54170	7.506000	0.81665	1.263000	0.44181	0.650000	0.86243	GAA		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		5	41	0	0	0	1	0	5	41				
OR5H14	403273	broad.mit.edu	37	3	97868948	97868948	+	Missense_Mutation	SNP	C	C	A	rs533392804		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97868948C>A	ENST00000437310.1	+	1	779	c.719C>A	c.(718-720)aCc>aAc	p.T240N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	240						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCTTCTCCACCTGTGGAGCT	0.413																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(718-720)aCc>aAc		olfactory receptor, family 5, subfamily H, member 14							55.0	54.0	54.0					3																	97868948		2203	4299	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868948C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.719C>A	3.37:g.97868948C>A	ENSP00000401706:p.Thr240Asn						p.T240N	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	779	+			240					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.719C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825250	0.32237	.	.	ENSG00000236032	ENST00000437310	T	0.40476	1.03	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000190	T	0.73289	0.3568	H	0.97758	4.07	0.25552	N	0.987072	D	0.89917	1.0	D	0.97110	1.0	T	0.67185	-0.5734	10	0.87932	D	0	.	10.6214	0.45483	0.0:1.0:0.0:0.0	.	240	A6NHG9	O5H14_HUMAN	N	240	ENSP00000401706:T240N	ENSP00000401706:T240N	T	+	2	0	OR5H14	99351638	1.000000	0.71417	0.992000	0.48379	0.223000	0.24884	4.985000	0.63845	1.380000	0.46344	0.195000	0.17529	ACC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			30	80	1	0	1.88708e-17	1	2.13607e-17	30	80				
PLCH1	23007	broad.mit.edu	37	3	155199085	155199085	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:155199085C>G	ENST00000340059.7	-	23	4753	c.4754G>C	c.(4753-4755)aGa>aCa	p.R1585T	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.R1547T|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1547T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1547T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1585					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTGCGCACTCTGCTCTGACT	0.498																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4639-4641)aGa>aCa		phospholipase C, eta 1							120.0	117.0	118.0					3																	155199085		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199085C>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4754G>C	3.37:g.155199085C>G	ENSP00000345988:p.Arg1585Thr					PLCH1_ENST00000340059.7_Missense_Mutation_p.R1585T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1547T|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1547T|PLCH1_ENST00000494598.1_Intron	p.R1547T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4997	-			1585					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4640G>C	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196164	0.78902	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.63744	-0.06;-0.03;-0.06;-0.06	5.26	5.26	0.73747	.	0.169755	0.48767	D	0.000175	T	0.79969	0.4538	M	0.75615	2.305	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.82388	-0.0482	10	0.87932	D	0	.	18.4775	0.90798	0.0:1.0:0.0:0.0	.	1547;1585	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	1547;1585;1547;1547	ENSP00000417502:R1547T;ENSP00000345988:R1585T;ENSP00000335469:R1547T;ENSP00000412977:R1547T	ENSP00000335469:R1547T	R	-	2	0	PLCH1	156681779	1.000000	0.71417	0.982000	0.44146	0.825000	0.46686	7.105000	0.77031	2.433000	0.82419	0.655000	0.94253	AGA		0.498	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		15	165	0	0	0	1	0	15	165				
GBP7	388646	broad.mit.edu	37	1	89618015	89618015	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89618015C>T	ENST00000294671.2	-	5	699	c.561G>A	c.(559-561)ctG>ctA	p.L187L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	187	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CATCTAACTTCAGCTCCAGGG	0.468																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(559-561)ctG>ctA		guanylate binding protein 7							142.0	141.0	141.0					1																	89618015		2203	4300	6503	SO:0001819	synonymous_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89618015C>T	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.561G>A	1.37:g.89618015C>T							p.L187L	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	5	699	-		Lung NSC(277;0.0908)	187						Silent	SNP	ENST00000294671.2	37	c.561G>A	CCDS720.1																																																																																				0.468	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		5	122	0	0	0	1	0	5	122				
OR4C11	219429	broad.mit.edu	37	11	55371596	55371596	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55371596G>C	ENST00000302231.4	-	1	278	c.254C>G	c.(253-255)tCt>tGt	p.S85C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTCTTTTCAGAGAGAGCATC	0.388																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(253-255)tCt>tGt		olfactory receptor, family 4, subfamily C, member 11							83.0	77.0	79.0					11																	55371596		2176	4012	6188	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371596G>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.254C>G	11.37:g.55371596G>C	ENSP00000306651:p.Ser85Cys						p.S85C	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	278	-			85					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.254C>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	0.775	-0.764322	0.02996	.	.	ENSG00000172188	ENST00000302231	T	0.01359	4.98	4.34	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.290468	0.24681	U	0.036480	T	0.02342	0.0072	M	0.79258	2.445	0.09310	N	1	B	0.20052	0.041	B	0.17979	0.02	T	0.36672	-0.9738	10	0.35671	T	0.21	.	6.6474	0.22943	0.3047:0.0:0.6953:0.0	.	85	Q6IEV9	OR4CB_HUMAN	C	85	ENSP00000306651:S85C	ENSP00000306651:S85C	S	-	2	0	OR4C11	55128172	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-1.182000	0.03082	0.560000	0.29169	0.478000	0.44815	TCT		0.388	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		5	157	0	0	0	1	0	5	157				
TMEM206	55248	broad.mit.edu	37	1	212560269	212560269	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:212560269C>G	ENST00000261455.4	-	3	444	c.307G>C	c.(307-309)Gtg>Ctg	p.V103L	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.V164L	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	103						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGTAAGACACAGACATGACA	0.552																																						ENST00000261455.4																			0				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17						c.(307-309)Gtg>Ctg		transmembrane protein 206							191.0	185.0	187.0					1																	212560269		2203	4300	6503	SO:0001583	missense	55248					integral to membrane		g.chr1:212560269C>G	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.307G>C	1.37:g.212560269C>G	ENSP00000261455:p.Val103Leu					TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.V164L	p.V103L	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	3	444	-			103					B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	c.307G>C	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206098	0.95033	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.971;0.996	P;D	0.76071	0.467;0.987	T	0.72276	-0.4341	9	0.87932	D	0	-18.744	18.5885	0.91200	0.0:1.0:0.0:0.0	.	164;103	B7Z4D6;Q9H813	.;TM206_HUMAN	L	103;164	.	ENSP00000261455:V103L	V	-	1	0	TMEM206	210626892	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.461000	0.80834	2.445000	0.82738	0.650000	0.86243	GTG		0.552	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		6	244	0	0	0	1	0	6	244				
TNFAIP3	7128	broad.mit.edu	37	6	138202346	138202346	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:138202346G>A	ENST00000237289.4	+	9	2329	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	755	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCTGCCCCCGAAGACCCCCC	0.622			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(2263-2265)Gaa>Aaa		tumor necrosis factor, alpha-induced protein 3							45.0	54.0	51.0					6																	138202346		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138202346G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2263G>A	6.37:g.138202346G>A	ENSP00000237289:p.Glu755Lys						p.E755K	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	9	2329	+	Breast(32;0.135)|Colorectal(23;0.24)		755			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.2263G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429400	0.25726	.	.	ENSG00000118503	ENST00000237289	T	0.21543	2.0	5.66	5.66	0.87406	.	0.317980	0.37304	N	0.002150	T	0.09642	0.0237	L	0.41710	1.295	0.39797	D	0.972519	B	0.23937	0.094	B	0.12837	0.008	T	0.05146	-1.0903	10	0.31617	T	0.26	-12.2136	15.0836	0.72133	0.0:0.1408:0.8592:0.0	.	755	P21580	TNAP3_HUMAN	K	755	ENSP00000237289:E755K	ENSP00000237289:E755K	E	+	1	0	TNFAIP3	138244039	1.000000	0.71417	0.791000	0.31998	0.324000	0.28378	4.566000	0.60843	2.668000	0.90789	0.557000	0.71058	GAA		0.622	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			29	158	0	0	0	1	0	29	158				
OR5M11	219487	broad.mit.edu	37	11	56309881	56309881	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:56309881T>C	ENST00000528616.2	-	1	876	c.853A>G	c.(853-855)Aat>Gat	p.N285D		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATCAATGGATTAAGTACCGGA	0.393																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(853-855)Aat>Gat		olfactory receptor, family 5, subfamily M, member 11							82.0	76.0	78.0					11																	56309881		1886	4122	6008	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309881T>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.853A>G	11.37:g.56309881T>C	ENSP00000432417:p.Asn285Asp						p.N285D	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	876	-			285					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.853A>G	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.681014	0.68042	.	.	ENSG00000255223	ENST00000528616	T	0.56444	0.46	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81226	0.4778	H	0.99498	4.595	0.40040	D	0.975636	D	0.58620	0.983	P	0.58172	0.834	D	0.88992	0.3415	9	0.87932	D	0	.	12.5834	0.56403	0.0:0.0:0.0:1.0	.	285	Q96RB7	OR5MB_HUMAN	D	285	ENSP00000432417:N285D	ENSP00000432417:N285D	N	-	1	0	OR5M11	56066457	1.000000	0.71417	0.963000	0.40424	0.503000	0.33858	7.469000	0.80959	2.076000	0.62316	0.514000	0.50259	AAT		0.393	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		10	53	0	0	0	1	0	10	53				
MTHFD2	10797	broad.mit.edu	37	2	74441282	74441282	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:74441282G>A	ENST00000394053.2	+	8	1046	c.966G>A	c.(964-966)aaG>aaA	p.K322K	MTHFD2_ENST00000264090.4_Silent_p.K220K|SLC4A5_ENST00000483195.1_5'Flank|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409601.1_Silent_p.K239K|MTHFD2_ENST00000394050.3_Silent_p.K158K|MTHFD2_ENST00000409804.1_Silent_p.K194K	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	322					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TGCTAATGAAGAATACCATTA	0.458																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(964-966)aaG>aaA		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						101.0	108.0	106.0					2																	74441282		2047	4223	6270	SO:0001819	synonymous_variant	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74441282G>A	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.966G>A	2.37:g.74441282G>A						MTHFD2_ENST00000264090.4_Silent_p.K220K|MTHFD2_ENST00000409804.1_Silent_p.K194K|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Silent_p.K158K|MTHFD2_ENST00000409601.1_Silent_p.K239K	p.K322K	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			8	1046	+			322					Q53G90|Q53GV5|Q53S36|Q7Z650	Silent	SNP	ENST00000394053.2	37	c.966G>A	CCDS1935.2																																																																																				0.458	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			4	142	0	0	0	1	0	4	142				
CAPN1	823	broad.mit.edu	37	11	64973960	64973960	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:64973960G>C	ENST00000527323.1	+	12	1620	c.1380G>C	c.(1378-1380)ttG>ttC	p.L460F	CAPN1_ENST00000524773.1_Missense_Mutation_p.L460F|CAPN1_ENST00000533820.1_Missense_Mutation_p.L460F|CAPN1_ENST00000533129.1_Missense_Mutation_p.L460F|CAPN1_ENST00000279247.6_Missense_Mutation_p.L460F			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	460	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGTACACTTGAAGCGTGACT	0.682																																						ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1378-1380)ttG>ttC		calpain 1, (mu/I) large subunit							59.0	66.0	64.0					11																	64973960		2063	4187	6250	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64973960G>C	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1380G>C	11.37:g.64973960G>C	ENSP00000431984:p.Leu460Phe					CAPN1_ENST00000279247.6_Missense_Mutation_p.L460F|CAPN1_ENST00000533129.1_Missense_Mutation_p.L460F|CAPN1_ENST00000524773.1_Missense_Mutation_p.L460F|CAPN1_ENST00000533820.1_Missense_Mutation_p.L460F	p.L460F			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	12	1620	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	460			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1380G>C	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707144	0.48412	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.26	4.32	0.51571	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.075695	0.56097	D	0.000040	D	0.94922	0.8358	M	0.88512	2.96	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.94207	0.7455	10	0.72032	D	0.01	.	7.1629	0.25675	0.0912:0.1752:0.7336:0.0	.	460	P07384	CAN1_HUMAN	F	460;460;460;460;406;460	ENSP00000435272:L460F;ENSP00000431686:L460F;ENSP00000434176:L460F;ENSP00000279247:L460F;ENSP00000431984:L460F	ENSP00000259755:L406F	L	+	3	2	CAPN1	64730536	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	2.289000	0.43523	1.156000	0.42514	0.462000	0.41574	TTG		0.682	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			8	106	0	0	0	1	0	8	106				
OR6M1	390261	broad.mit.edu	37	11	123676741	123676741	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:123676741C>G	ENST00000309154.2	-	1	354	c.317G>C	c.(316-318)gGg>gCg	p.G106A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCACCGTCCCCAGAAAGAA	0.493																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(316-318)gGg>gCg		olfactory receptor, family 6, subfamily M, member 1							60.0	60.0	60.0					11																	123676741		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676741C>G	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.317G>C	11.37:g.123676741C>G	ENSP00000311038:p.Gly106Ala						p.G106A	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	354	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	106					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.317G>C	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517280	0.44763	.	.	ENSG00000196099	ENST00000309154	T	0.01323	5.01	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33916	U	0.004437	T	0.04363	0.0120	L	0.39467	1.215	0.21386	N	0.999707	D	0.89917	1.0	D	0.97110	1.0	T	0.25398	-1.0133	10	0.52906	T	0.07	.	10.762	0.46270	0.0:1.0:0.0:0.0	.	106	Q8NGM8	OR6M1_HUMAN	A	106	ENSP00000311038:G106A	ENSP00000311038:G106A	G	-	2	0	OR6M1	123181951	0.000000	0.05858	0.990000	0.47175	0.948000	0.59901	-0.183000	0.09712	1.862000	0.54008	0.655000	0.94253	GGG		0.493	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		6	44	0	0	0	1	0	6	44				
TMC1	117531	broad.mit.edu	37	9	75435766	75435766	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:75435766C>T	ENST00000297784.5	+	20	2312	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.S591F|TMC1_ENST00000340019.3_Missense_Mutation_p.S591F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	591					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGATGGGCTCCTTCTTTGCT	0.463																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1771-1773)tCc>tTc		transmembrane channel-like 1							90.0	83.0	86.0					9																	75435766		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75435766C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1772C>T	9.37:g.75435766C>T	ENSP00000297784:p.Ser591Phe					TMC1_ENST00000396237.3_Missense_Mutation_p.S591F|TMC1_ENST00000340019.3_Missense_Mutation_p.S591F|TMC1_ENST00000486417.1_3'UTR	p.S591F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			20	2312	+			591					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1772C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835086	0.91117	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.63417	-0.04;-0.04;-0.04	5.72	5.72	0.89469	.	0.066278	0.64402	D	0.000010	T	0.71542	0.3352	L	0.44542	1.39	0.54753	D	0.999986	D;D;D	0.71674	0.995;0.995;0.998	D;D;D	0.73708	0.974;0.974;0.981	T	0.61783	-0.6992	10	0.09843	T	0.71	-21.0263	19.8356	0.96657	0.0:1.0:0.0:0.0	.	558;558;591	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	F	591;591;558;558;585;591	ENSP00000297784:S591F;ENSP00000341433:S591F;ENSP00000379538:S591F	ENSP00000297784:S591F	S	+	2	0	TMC1	74625586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	TCC		0.463	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			4	96	0	0	0	1	0	4	96				
KCNJ5	3762	broad.mit.edu	37	11	128781855	128781855	+	Silent	SNP	C	C	T	rs149327599		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:128781855C>T	ENST00000338350.4	+	3	1039	c.687C>T	c.(685-687)atC>atT	p.I229I	KCNJ5_ENST00000533599.1_Silent_p.I229I|KCNJ5_ENST00000529694.1_Silent_p.I229I			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	229					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.I229I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	ACTCCCACATCGTGGAGGCCT	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			1	Substitution - coding silent(1)	p.I229I(1)	urinary_tract(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(685-687)atC>atT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)	C		0,4402		0,0,2201	84.0	87.0	86.0		687	-0.7	1.0	11	dbSNP_134	86	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	KCNJ5	NM_000890.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		229/420	128781855	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781855C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.687C>T	11.37:g.128781855C>T						KCNJ5_ENST00000338350.4_Silent_p.I229I|KCNJ5_ENST00000533599.1_Silent_p.I229I	p.I229I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1063	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	229					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.687C>T	CCDS8479.1																																																																																				0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		9	68	0	0	0	1	0	9	68				
RNF6	6049	broad.mit.edu	37	13	26793680	26793680	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:26793680C>G	ENST00000381588.4	-	3	859	c.107G>C	c.(106-108)aGa>aCa	p.R36T	RNF6_ENST00000381570.3_Missense_Mutation_p.R36T|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R36T	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	36					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GGCCTCTTCTCTGTGGAGACG	0.418																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(106-108)aGa>aCa		ring finger protein (C3H2C3 type) 6							170.0	162.0	165.0					13																	26793680		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26793680C>G	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.107G>C	13.37:g.26793680C>G	ENSP00000371000:p.Arg36Thr					RNF6_ENST00000381570.3_Missense_Mutation_p.R36T|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R36T|RNF6_ENST00000399762.2_5'UTR	p.R36T	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	3	859	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	36					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.107G>C	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752611	0.89753	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.09911	2.93;2.93;2.93	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.09618	-1.0666	10	0.87932	D	0	-17.1411	16.8229	0.85923	0.0:1.0:0.0:0.0	.	36;36	Q9Y252;Q9BZP5	RNF6_HUMAN;.	T	36	ENSP00000342121:R36T;ENSP00000371000:R36T;ENSP00000370982:R36T	ENSP00000342121:R36T	R	-	2	0	RNF6	25691680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.260000	0.78391	2.640000	0.89533	0.655000	0.94253	AGA		0.418	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		21	132	0	0	0	1	0	21	132				
LOC100130331	100130331	broad.mit.edu	37	1	238090406	238090406	+	RNA	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:238090406G>C	ENST00000450451.1	+	0	1912					NR_027247.2																						CTTCTACAATGAGCTGTGCGT	0.567																																						ENST00000450451.1																			0																																																			100130331							g.chr1:238090406G>C																													1.37:g.238090406G>C								NR_027247.2						0	1912	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.567	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			9	65	0	0	0	1	0	9	65				
PDZRN4	29951	broad.mit.edu	37	12	41966190	41966190	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:41966190G>T	ENST00000402685.2	+	10	1617	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	PDZRN4_ENST00000298919.7_Missense_Mutation_p.G277C|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G279C	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	537							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGAAGAAGGCACAACAGA	0.368																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(829-831)Ggc>Tgc		PDZ domain containing ring finger 4							75.0	67.0	70.0					12																	41966190		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966190G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1609G>T	12.37:g.41966190G>T	ENSP00000384197:p.Gly537Cys					PDZRN4_ENST00000539469.2_Missense_Mutation_p.G279C|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G537C	p.G277C			Q6ZMN7	PZRN4_HUMAN			10	1217	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	537			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.829G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167453	0.57476	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73897	-0.79;3.7;3.7	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	M	0.72118	2.19	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.998;0.998	P;D;D	0.70016	0.894;0.951;0.967	D	0.86747	0.1958	10	0.72032	D	0.01	-35.9284	19.3018	0.94146	0.0:0.0:1.0:0.0	.	537;277;279	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	C	537;279;277	ENSP00000384197:G537C;ENSP00000439990:G279C;ENSP00000298919:G277C	ENSP00000298919:G277C	G	+	1	0	PDZRN4	40252457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.552000	0.73914	2.731000	0.93534	0.650000	0.86243	GGC		0.368	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		10	51	1	0	3.07112e-06	1	3.28257e-06	10	51				
GPR37	2861	broad.mit.edu	37	7	124404637	124404637	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:124404637C>T	ENST00000303921.2	-	1	1044	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	132					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCAAAGTTTCAGAAGGCTCC	0.662																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(394-396)Gaa>Aaa		G protein-coupled receptor 37 (endothelin receptor type B-like)							64.0	75.0	72.0					7																	124404637		2202	4299	6501	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404637C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.394G>A	7.37:g.124404637C>T	ENSP00000306449:p.Glu132Lys						p.E132K	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	1044	-			132					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.394G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	2.673	-0.277149	0.05679	.	.	ENSG00000170775	ENST00000303921	T	0.08720	3.06	5.25	2.38	0.29361	.	0.866720	0.10339	N	0.686590	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.47018	-0.9149	10	0.09338	T	0.73	-1.8906	4.1083	0.10047	0.1863:0.6251:0.0:0.1886	.	132	O15354	GPR37_HUMAN	K	132	ENSP00000306449:E132K	ENSP00000306449:E132K	E	-	1	0	GPR37	124191873	0.000000	0.05858	0.001000	0.08648	0.383000	0.30230	-0.067000	0.11579	0.844000	0.35094	0.655000	0.94253	GAA		0.662	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		18	136	0	0	0	1	0	18	136				
OR1A1	8383	broad.mit.edu	37	17	3119566	3119566	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:3119566A>G	ENST00000304094.1	+	1	652	c.652A>G	c.(652-654)Att>Gtt	p.I218V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTCTCCTATATTCGAGTCTT	0.473																																						ENST00000304094.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(652-654)Att>Gtt		olfactory receptor, family 1, subfamily A, member 1							267.0	236.0	246.0					17																	3119566		2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119566A>G	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.652A>G	17.37:g.3119566A>G	ENSP00000305207:p.Ile218Val						p.I218V	NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN			1	652	+			218					A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.652A>G	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.855839	0.00065	.	.	ENSG00000172146	ENST00000304094	T	0.00023	8.99	4.96	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	0.738777	0.12097	N	0.499803	T	0.00073	0.0002	N	0.20445	0.575	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36187	-0.9758	10	0.06757	T	0.87	.	14.0529	0.64749	0.6581:0.0:0.3419:0.0	.	218	Q9P1Q5	OR1A1_HUMAN	V	218	ENSP00000305207:I218V	ENSP00000305207:I218V	I	+	1	0	OR1A1	3066316	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.128000	0.00592	-1.317000	0.02292	-1.443000	0.01068	ATT		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		35	225	0	0	0	1	0	35	225				
CREBBP	1387	broad.mit.edu	37	16	3789616	3789616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:3789616G>A	ENST00000262367.5	-	25	5052	c.4243C>T	c.(4243-4245)Caa>Taa	p.Q1415*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1377*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1415	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCGTATTCTTGGACGTGCATT	0.493			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4243-4245)Caa>Taa		CREB binding protein							86.0	79.0	81.0					16																	3789616		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789616G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4243C>T	16.37:g.3789616G>A	ENSP00000262367:p.Gln1415*					CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1377*	p.Q1415*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	5052	-		Ovarian(90;0.0266)	1415			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.4243C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082657	0.36758	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.0764	19.4402	0.94817	0.0:0.0:1.0:0.0	.	.	.	.	X	1415;1445;1377;4	.	ENSP00000262367:Q1415X	Q	-	1	0	CREBBP	3729617	1.000000	0.71417	0.304000	0.25085	0.429000	0.31625	9.731000	0.98807	2.665000	0.90641	0.561000	0.74099	CAA		0.493	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	65	0	0	0	1	0	6	65				
STS	412	broad.mit.edu	37	X	7268167	7268167	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:7268167G>C	ENST00000217961.4	+	10	1837	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	539					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GACACACCCAGACCCTGCCAG	0.542									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1615-1617)caG>caC		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						62.0	58.0	59.0					X																	7268167		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268167G>C	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1617G>C	X.37:g.7268167G>C	ENSP00000217961:p.Gln539His						p.Q539H	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			10	1837	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	539					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1617G>C	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131723	0.06753	.	.	ENSG00000101846	ENST00000217961	D	0.89939	-2.59	4.22	1.38	0.22167	Alkaline-phosphatase-like, core domain (1);	1.050650	0.07479	N	0.903535	T	0.81740	0.4886	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.67317	-0.5701	10	0.52906	T	0.07	.	4.5417	0.12061	0.2866:0.1703:0.5431:0.0	.	539	P08842	STS_HUMAN	H	539	ENSP00000217961:Q539H	ENSP00000217961:Q539H	Q	+	3	2	STS	7278167	0.034000	0.19679	0.002000	0.10522	0.010000	0.07245	0.135000	0.15952	0.151000	0.19162	0.600000	0.82982	CAG		0.542	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		5	93	0	0	0	1	0	5	93				
ZFHX3	463	broad.mit.edu	37	16	72993579	72993579	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:72993579C>T	ENST00000268489.5	-	2	1138	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	156					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCCCACAGGCGCCCCCGCCC	0.677																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(466-468)Gcc>Acc		zinc finger homeobox 3							28.0	34.0	32.0					16																	72993579		2198	4299	6497	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993579C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.466G>A	16.37:g.72993579C>T	ENSP00000268489:p.Ala156Thr					ZFHX3_ENST00000397992.5_Intron	p.A156T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1138	-		Ovarian(137;0.13)	156					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.466G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	9.907	1.208374	0.22205	.	.	ENSG00000140836	ENST00000268489	T	0.73152	-0.72	4.81	2.68	0.31781	.	0.610218	0.14328	N	0.326540	T	0.53417	0.1795	L	0.27053	0.805	0.35891	D	0.829683	D	0.64830	0.994	B	0.42593	0.392	T	0.54931	-0.8219	10	0.16420	T	0.52	.	9.1759	0.37112	0.0:0.7695:0.1466:0.0838	.	156	Q15911	ZFHX3_HUMAN	T	156	ENSP00000268489:A156T	ENSP00000268489:A156T	A	-	1	0	ZFHX3	71551080	0.001000	0.12720	0.850000	0.33497	0.732000	0.41865	0.204000	0.17335	1.151000	0.42436	0.462000	0.41574	GCC		0.677	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	53	0	0	0	1	0	8	53				
ERCC1	2067	broad.mit.edu	37	19	45920135	45920135	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:45920135G>C	ENST00000300853.3	-	6	1137	c.546C>G	c.(544-546)ctC>ctG	p.L182L	ERCC1_ENST00000340192.7_Silent_p.L182L|ERCC1_ENST00000591636.1_Silent_p.L182L|ERCC1_ENST00000423698.2_Silent_p.L110L|ERCC1_ENST00000013807.5_Silent_p.L182L|ERCC1_ENST00000589165.1_Silent_p.L182L|ERCC1_ENST00000588738.1_5'Flank	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	182					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGCTCCTTGAGGGCCTGCT	0.527								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(544-546)ctC>ctG	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)							68.0	59.0	62.0					19																	45920135		2203	4300	6503	SO:0001819	synonymous_variant	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45920135G>C		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.546C>G	19.37:g.45920135G>C						ERCC1_ENST00000340192.7_Silent_p.L182L|ERCC1_ENST00000423698.2_Silent_p.L110L|ERCC1_ENST00000589165.1_Silent_p.L182L|ERCC1_ENST00000591636.1_Silent_p.L182L|ERCC1_ENST00000013807.5_Silent_p.L182L	p.L182L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	6	1137	-		Ovarian(192;0.051)|all_neural(266;0.112)	182					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	c.546C>G	CCDS12662.1																																																																																				0.527	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		6	20	0	0	0	1	0	6	20				
SNTG1	54212	broad.mit.edu	37	8	51449368	51449368	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:51449368G>A	ENST00000522124.1	+	11	1341	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	SNTG1_ENST00000518864.1_Splice_Site_p.R227Q|SNTG1_ENST00000276467.5_Splice_Site_p.R227Q|SNTG1_ENST00000517473.1_Splice_Site_p.R227Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATTTGAGTCGGTGAGTCCGT	0.438																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.e11+1		syntrophin, gamma 1							176.0	162.0	167.0					8																	51449368		2203	4300	6503	SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51449368G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.680+1G>A	8.37:g.51449368G>A						SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			11	1341	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	227					Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	c.680_splice	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286240	0.59867	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	4.91	4.04	0.47022	Pleckstrin homology domain (1);	0.046236	0.85682	D	0.000000	T	0.70937	0.3281	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.921	T	0.73820	-0.3862	10	0.66056	D	0.02	.	11.8545	0.52429	0.086:0.0:0.914:0.0	.	227;227	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Q	227	ENSP00000429276:R227Q;ENSP00000429842:R227Q;ENSP00000431123:R227Q;ENSP00000276467:R227Q	ENSP00000276467:R227Q	R	+	2	0	SNTG1	51611921	1.000000	0.71417	0.991000	0.47740	0.103000	0.19146	8.032000	0.88838	1.076000	0.40961	-0.339000	0.08088	CGG		0.438	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Missense_Mutation	10	209	0	0	0	1	0	10	209				
TIGD2	166815	broad.mit.edu	37	4	90034627	90034627	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:90034627C>G	ENST00000317005.2	+	1	660	c.502C>G	c.(502-504)Cta>Gta	p.L168V	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	168	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		aaaagagaatctacaaccaga	0.373																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(502-504)Cta>Gta		tigger transposable element derived 2							48.0	52.0	50.0					4																	90034627		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034627C>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.502C>G	4.37:g.90034627C>G	ENSP00000317170:p.Leu168Val						p.L168V	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	660	+		Hepatocellular(203;0.114)	168			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.502C>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.334918	0.41297	.	.	ENSG00000180346	ENST00000317005	T	0.25912	1.77	4.02	2.22	0.28083	.	0.000000	0.33110	U	0.005271	T	0.42944	0.1225	M	0.75264	2.295	0.24165	N	0.995641	D	0.60160	0.987	D	0.64321	0.924	T	0.12477	-1.0546	10	0.49607	T	0.09	-2.5339	8.2869	0.31935	0.0:0.7911:0.0:0.2089	.	168	Q4W5G0	TIGD2_HUMAN	V	168	ENSP00000317170:L168V	ENSP00000317170:L168V	L	+	1	2	TIGD2	90253650	0.998000	0.40836	0.998000	0.56505	0.986000	0.74619	1.556000	0.36288	0.920000	0.36970	0.546000	0.68486	CTA		0.373	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		5	89	0	0	0	1	0	5	89				
PPP2R3A	5523	broad.mit.edu	37	3	135801125	135801125	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801125G>A	ENST00000264977.3	+	8	3267	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E263K|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E148K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	884					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTTTTGGAAGAAGAGGAAGA	0.333																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2650-2652)Gaa>Aaa		protein phosphatase 2, regulatory subunit B'', alpha							78.0	84.0	82.0					3																	135801125		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801125G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2650G>A	3.37:g.135801125G>A	ENSP00000264977:p.Glu884Lys					PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E148K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E263K	p.E884K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3267	+			884					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2650G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350212	0.82132	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.48522	0.81;0.81;0.81	5.69	5.69	0.88448	.	0.106309	0.64402	D	0.000006	T	0.57902	0.2085	M	0.79011	2.435	0.80722	D	1	B;B	0.28208	0.169;0.203	B;B	0.35240	0.198;0.133	T	0.59156	-0.7507	10	0.59425	D	0.04	.	18.7989	0.92008	0.0:0.0:1.0:0.0	.	263;884	Q06190-2;Q06190	.;P2R3A_HUMAN	K	884;148;263	ENSP00000264977:E884K;ENSP00000419344:E148K;ENSP00000334748:E263K	ENSP00000264977:E884K	E	+	1	0	PPP2R3A	137283815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.698000	0.92095	0.563000	0.77884	GAA		0.333	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		23	614	0	0	0	1	0	23	614				
GAD2	2572	broad.mit.edu	37	10	26513478	26513478	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:26513478G>A	ENST00000376261.3	+	6	1125	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	GAD2_ENST00000376248.1_Missense_Mutation_p.E94K|GAD2_ENST00000259271.3_Missense_Mutation_p.E208K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	208					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTCACCTATGAAATTGCTCC	0.373																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(622-624)Gaa>Aaa		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						129.0	127.0	128.0					10																	26513478		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26513478G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.622G>A	10.37:g.26513478G>A	ENSP00000365437:p.Glu208Lys					GAD2_ENST00000376248.1_Missense_Mutation_p.E94K|GAD2_ENST00000259271.3_Missense_Mutation_p.E208K	p.E208K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			6	1125	+			208					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.622G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850702	0.91277	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000376248	T;T;T	0.40756	1.02;1.02;1.02	5.21	5.21	0.72293	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.101971	0.64402	D	0.000003	T	0.70055	0.3180	M	0.89534	3.04	0.80722	D	1	D	0.56287	0.975	P	0.61722	0.893	T	0.77686	-0.2495	10	0.87932	D	0	-25.7788	18.7878	0.91961	0.0:0.0:1.0:0.0	.	208	Q05329	DCE2_HUMAN	K	208;208;94	ENSP00000365437:E208K;ENSP00000259271:E208K;ENSP00000365424:E94K	ENSP00000259271:E208K	E	+	1	0	GAD2	26553484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.446000	0.82766	0.655000	0.94253	GAA		0.373	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	66	0	0	0	1	0	5	66				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			101927755							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	15	0	0	0	1	0	3	15				
MEPE	56955	broad.mit.edu	37	4	88766519	88766519	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:88766519G>A	ENST00000424957.3	+	4	572	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MEPE_ENST00000560249.1_Missense_Mutation_p.E54K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E198K|MEPE_ENST00000497649.2_Missense_Mutation_p.E143K|MEPE_ENST00000361056.3_Missense_Mutation_p.E167K|MEPE_ENST00000540395.1_Missense_Mutation_p.E54K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	167					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTGGGGGAAGAAAACAAAGA	0.408																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(427-429)Gaa>Aaa		matrix extracellular phosphoglycoprotein							64.0	66.0	65.0					4																	88766519		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766519G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.499G>A	4.37:g.88766519G>A	ENSP00000416984:p.Glu167Lys					MEPE_ENST00000395102.4_Missense_Mutation_p.E198K|MEPE_ENST00000424957.3_Missense_Mutation_p.E167K|MEPE_ENST00000361056.3_Missense_Mutation_p.E167K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E54K|MEPE_ENST00000560249.1_Missense_Mutation_p.E54K	p.E143K			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	805	+		Hepatocellular(203;0.114)	167					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.427G>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980960	0.34942	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.52983	4.34;0.65;0.64;0.67;4.34	4.84	2.09	0.27110	.	1.106060	0.06861	N	0.799162	T	0.43897	0.1268	M	0.62266	1.93	0.09310	N	1	P	0.35468	0.503	B	0.36244	0.22	T	0.31052	-0.9957	10	0.31617	T	0.26	-3.2313	4.8794	0.13672	0.1924:0.1753:0.6323:0.0	.	167	Q9NQ76	MEPE_HUMAN	K	167;167;198;143;54;167	ENSP00000416984:E167K;ENSP00000378534:E198K;ENSP00000422747:E143K;ENSP00000443491:E54K;ENSP00000354341:E167K	ENSP00000354341:E167K	E	+	1	0	MEPE	88985543	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.077000	0.11394	0.226000	0.20979	0.655000	0.94253	GAA		0.408	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			15	97	0	0	0	1	0	15	97				
GUCA1C	9626	broad.mit.edu	37	3	108635040	108635040	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:108635040G>T	ENST00000261047.3	-	3	508	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	GUCA1C_ENST00000471108.1_Missense_Mutation_p.Q126K|GUCA1C_ENST00000393963.3_Missense_Mutation_p.Q126K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	126					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AGAGTTTGCTGGCCATTGAGG	0.408																																					NSCLC(157;1360 1999 30631 40189 44208)	ENST00000261047.3																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						c.(376-378)Cag>Aag		guanylate cyclase activator 1C							139.0	137.0	137.0					3																	108635040		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108635040G>T	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.376C>A	3.37:g.108635040G>T	ENSP00000261047:p.Gln126Lys					GUCA1C_ENST00000393963.3_Missense_Mutation_p.Q126K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.Q126K	p.Q126K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN			3	508	-			126					O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.376C>A	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948296	0.18356	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.64803	-0.12;-0.12;-0.12	4.33	1.45	0.22620	EF-hand-like domain (1);	0.425163	0.25584	N	0.029679	T	0.37892	0.1020	N	0.12182	0.205	0.09310	N	1	P;P	0.39157	0.662;0.524	B;B	0.37508	0.252;0.041	T	0.22312	-1.0220	10	0.27785	T	0.31	.	8.1162	0.30944	0.284:0.0:0.716:0.0	.	126;126	C9JNI2;O95843	.;GUC1C_HUMAN	K	126	ENSP00000377535:Q126K;ENSP00000261047:Q126K;ENSP00000417761:Q126K	ENSP00000261047:Q126K	Q	-	1	0	GUCA1C	110117730	0.174000	0.23070	0.097000	0.21041	0.595000	0.36748	0.476000	0.22180	0.052000	0.16007	0.655000	0.94253	CAG		0.408	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		16	177	1	0	0.000422831	1	0.000437597	16	177				
VPS13A	23230	broad.mit.edu	37	9	79954477	79954477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:79954477C>T	ENST00000360280.3	+	48	6684	c.6424C>T	c.(6424-6426)Cag>Tag	p.Q2142*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q2103*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q2142*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q2142*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2142					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACATTCAGCCCAGATTTGTAC	0.308																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(6424-6426)Cag>Tag		vacuolar protein sorting 13 homolog A (S. cerevisiae)							28.0	25.0	26.0					9																	79954477		2201	4298	6499	SO:0001587	stop_gained	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79954477C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6424C>T	9.37:g.79954477C>T	ENSP00000353422:p.Gln2142*					VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q2103*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q2142*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q2142*	p.Q2142*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			48	6684	+			2142					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	37	c.6424C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	48	14.034146	0.99776	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.89	4.99	0.66335	.	0.130407	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	14.7812	0.69769	0.0:0.9309:0.0:0.0691	.	.	.	.	X	2142;2103;2142;2142	.	ENSP00000349985:Q2142X	Q	+	1	0	VPS13A	79144297	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	6.522000	0.73783	1.494000	0.48533	0.585000	0.79938	CAG		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	9	0	0	0	1	0	3	9				
PEAR1	375033	broad.mit.edu	37	1	156873781	156873781	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:156873781C>T	ENST00000338302.3	+	3	288	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PEAR1_ENST00000292357.7_Silent_p.L21L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	21					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGAACTCTCAACCCCAGTG	0.622																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(61-63)ctC>ctT		platelet endothelial aggregation receptor 1							105.0	94.0	98.0					1																	156873781		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156873781C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.63C>T	1.37:g.156873781C>T						PEAR1_ENST00000292357.7_Silent_p.L21L	p.L21L			Q5VY43	PEAR1_HUMAN			3	288	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		21					Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.63C>T	CCDS30892.1																																																																																				0.622	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		5	108	0	0	0	1	0	5	108				
DDHD1	80821	broad.mit.edu	37	14	53525264	53525264	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:53525264A>T	ENST00000323669.5	-	9	1922	c.1923T>A	c.(1921-1923)agT>agA	p.S641R	DDHD1_ENST00000357758.3_Missense_Mutation_p.S641R|DDHD1_ENST00000395606.1_Missense_Mutation_p.S648R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	641	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TATGGTCTTGACTTCCAGTAT	0.393																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1921-1923)agT>agA		DDHD domain containing 1							90.0	96.0	94.0					14																	53525264		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53525264A>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1923T>A	14.37:g.53525264A>T	ENSP00000327104:p.Ser641Arg					DDHD1_ENST00000395606.1_Missense_Mutation_p.S648R|DDHD1_ENST00000323669.5_Missense_Mutation_p.S641R	p.S641R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			9	2106	-	Breast(41;0.037)		641			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1923T>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652571	0.67472	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	6.14	3.83	0.44106	DDHD (2);	0.251162	0.52532	D	0.000080	T	0.51075	0.1653	L	0.49778	1.585	0.48452	D	0.999653	P;P;P;P	0.47034	0.473;0.865;0.889;0.672	B;B;P;B	0.50270	0.381;0.425;0.636;0.231	T	0.47222	-0.9134	9	0.37606	T	0.19	-6.7274	6.1458	0.20285	0.7555:0.0:0.2445:0.0	.	37;648;641;641	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	R	641;648;641;512	.	ENSP00000327104:S641R	S	-	3	2	DDHD1	52595014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.809000	0.38922	1.140000	0.42260	0.519000	0.50382	AGT		0.393	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			29	133	0	0	0	1	0	29	133				
TLE4	7091	broad.mit.edu	37	9	82335048	82335048	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:82335048T>C	ENST00000376552.2	+	16	2696	c.1678T>C	c.(1678-1680)Tgg>Cgg	p.W560R	TLE4_ENST00000376534.4_Missense_Mutation_p.W197R|TLE4_ENST00000376537.4_Missense_Mutation_p.W592R|TLE4_ENST00000376520.4_Missense_Mutation_p.W592R|TLE4_ENST00000376544.3_Missense_Mutation_p.W491R|TLE4_ENST00000265284.6_Missense_Mutation_p.W535R	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	560					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTGTCCATTTGGGACCTGGC	0.567																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1774-1776)Tgg>Cgg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							65.0	64.0	64.0					9																	82335048		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82335048T>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1678T>C	9.37:g.82335048T>C	ENSP00000365735:p.Trp560Arg					TLE4_ENST00000376544.3_Missense_Mutation_p.W491R|TLE4_ENST00000376552.2_Missense_Mutation_p.W560R|TLE4_ENST00000265284.6_Missense_Mutation_p.W535R|TLE4_ENST00000376537.4_Missense_Mutation_p.W592R|TLE4_ENST00000376534.4_Missense_Mutation_p.W197R	p.W592R			O60756	BCE1_HUMAN			17	2602	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1774T>C	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600752	0.87055	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	H	0.98446	4.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;1.0	T	0.77816	-0.2447	10	0.87932	D	0	-10.2596	15.9839	0.80133	0.0:0.0:0.0:1.0	.	535;491;592;560	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	R	560;491;592;592;197;535	ENSP00000365735:W560R;ENSP00000365727:W491R;ENSP00000365703:W592R;ENSP00000365720:W592R;ENSP00000365717:W197R;ENSP00000265284:W535R	ENSP00000265284:W535R	W	+	1	0	TLE4	81524868	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.038000	0.88943	2.171000	0.68590	0.482000	0.46254	TGG		0.567	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		32	55	0	0	0	1	0	32	55				
SPAG6	9576	broad.mit.edu	37	10	22653828	22653828	+	Silent	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:22653828A>T	ENST00000376624.3	+	3	310	c.168A>T	c.(166-168)acA>acT	p.T56T	SPAG6_ENST00000376603.2_Silent_p.T132T|SPAG6_ENST00000313311.6_Silent_p.T56T|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.T31T|SPAG6_ENST00000376601.1_Silent_p.T56T	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	56					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGGTCCCAACAATTCAACAGA	0.393																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(394-396)acA>acT		sperm associated antigen 6							97.0	92.0	93.0					10																	22653828		2203	4300	6503	SO:0001819	synonymous_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22653828A>T	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.168A>T	10.37:g.22653828A>T						SPAG6_ENST00000376601.1_Silent_p.T56T|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Silent_p.T56T|SPAG6_ENST00000313311.6_Silent_p.T56T|SPAG6_ENST00000538630.1_Silent_p.T31T	p.T132T			O75602	SPAG6_HUMAN			3	538	+			56					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	c.396A>T	CCDS7139.1																																																																																				0.393	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			12	92	0	0	0	1	0	12	92				
NAALADL2	254827	broad.mit.edu	37	3	175473145	175473145	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:175473145G>T	ENST00000454872.1	+	13	2256	c.2128G>T	c.(2128-2130)Gac>Tac	p.D710Y		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	710						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATGCTGAATGACATTCTCCA	0.468																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2128-2130)Gac>Tac		N-acetylated alpha-linked acidic dipeptidase-like 2							60.0	59.0	59.0					3																	175473145		1916	4130	6046	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175473145G>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2128G>T	3.37:g.175473145G>T	ENSP00000404705:p.Asp710Tyr						p.D710Y	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	13	2256	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	710					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.2128G>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557434	0.86231	.	.	ENSG00000177694	ENST00000454872	T	0.37235	1.21	5.71	5.71	0.89125	Transferrin receptor-like, dimerisation domain (2);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	L	0.34521	1.04	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.53294	-0.8459	10	0.72032	D	0.01	-18.2085	19.8494	0.96733	0.0:0.0:1.0:0.0	.	710	Q58DX5	NADL2_HUMAN	Y	710	ENSP00000404705:D710Y	ENSP00000404705:D710Y	D	+	1	0	NAALADL2	176955839	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.130000	0.94437	2.694000	0.91930	0.591000	0.81541	GAC		0.468	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		4	43	1	0	0.150653	1	0.150653	4	43				
CDH23	64072	broad.mit.edu	37	10	73569667	73569667	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:73569667C>A	ENST00000224721.6	+	60	8833	c.8828C>A	c.(8827-8829)gCa>gAa	p.A2943E	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A698E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2938	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGAGACCTGGCAGGCCACAAC	0.612																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8827-8829)gCa>gAa		cadherin-related 23							110.0	114.0	113.0					10																	73569667		2107	4222	6329	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73569667C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8828C>A	10.37:g.73569667C>A	ENSP00000224721:p.Ala2943Glu					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A698E	p.A2943E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			60	8833	+			2938			Cadherin 27.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8828C>A		.	.	.	.	.	.	.	.	.	.	C	17.89	3.498539	0.64298	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60424	0.19	5.61	4.7	0.59300	Cadherin (2);Cadherin-like (1);	0.063066	0.64402	D	0.000006	T	0.57710	0.2072	M	0.80616	2.505	0.80722	D	1	P;B	0.35656	0.514;0.232	B;B	0.33196	0.159;0.084	T	0.65302	-0.6201	10	0.72032	D	0.01	.	11.1695	0.48563	0.0:0.861:0.0:0.139	.	2938;2938	E9PEX1;Q9H251	.;CAD23_HUMAN	E	2943;2938;2941;698	ENSP00000381768:A698E	ENSP00000224721:A2943E	A	+	2	0	CDH23	73239673	1.000000	0.71417	0.975000	0.42487	0.966000	0.64601	4.945000	0.63568	2.650000	0.89964	0.549000	0.68633	GCA		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		26	139	1	0	2.12542e-12	1	2.3648e-12	26	139				
CSMD3	114788	broad.mit.edu	37	8	114326972	114326972	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:114326972C>G	ENST00000297405.5	-	2	473	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.E77Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.E77Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.E37Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	77	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGGGCTTTCTATAGTGCCA	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(229-231)Gaa>Caa		CUB and Sushi multiple domains 3							130.0	131.0	131.0					8																	114326972		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326972C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.229G>C	8.37:g.114326972C>G	ENSP00000297405:p.Glu77Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.E37Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.E77Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.E77Q	p.E77Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			2	473	-			77			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.229G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273211	0.59649	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.87	5.87	0.94306	CUB (5);	0.000000	0.64402	D	0.000007	T	0.28333	0.0700	N	0.20881	0.62	0.43959	D	0.996632	D;D;D;D;B	0.89917	0.996;0.999;1.0;0.997;0.023	D;D;D;D;B	0.87578	0.991;0.996;0.998;0.995;0.034	T	0.03384	-1.1042	10	0.13470	T	0.59	.	19.1982	0.93698	0.0:1.0:0.0:0.0	.	77;77;77;77;37	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	Q	37;77;77;77	ENSP00000345799:E37Q;ENSP00000297405:E77Q;ENSP00000412263:E77Q;ENSP00000343124:E77Q	ENSP00000297405:E77Q	E	-	1	0	CSMD3	114396148	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.082000	0.71318	2.777000	0.95525	0.557000	0.71058	GAA		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		42	362	0	0	0	1	0	42	362				
TGM3	7053	broad.mit.edu	37	20	2315829	2315829	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:2315829C>G	ENST00000381458.5	+	11	1773	c.1710C>G	c.(1708-1710)atC>atG	p.I570M		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	570					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACAACATGATCCGGATCACAG	0.557																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1708-1710)atC>atG		transglutaminase 3	L-Glutamine(DB00130)						173.0	136.0	149.0					20																	2315829		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2315829C>G	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1710C>G	20.37:g.2315829C>G	ENSP00000370867:p.Ile570Met						p.I570M	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			11	1773	+			570					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1710C>G	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499951	0.64298	.	.	ENSG00000125780	ENST00000381458	T	0.70986	-0.53	5.13	5.13	0.70059	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.051952	0.85682	D	0.000000	T	0.80065	0.4555	M	0.71581	2.175	0.49299	D	0.999772	D	0.57899	0.981	D	0.63033	0.91	T	0.80259	-0.1457	10	0.46703	T	0.11	-2.3773	11.2104	0.48795	0.1833:0.8166:0.0:0.0	.	570	Q08188	TGM3_HUMAN	M	570	ENSP00000370867:I570M	ENSP00000370867:I570M	I	+	3	3	TGM3	2263829	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.229000	0.32600	2.363000	0.80096	0.561000	0.74099	ATC		0.557	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		18	149	0	0	0	1	0	18	149				
KCNK16	83795	broad.mit.edu	37	6	39284137	39284137	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:39284137G>T	ENST00000373229.5	-	5	756	c.743C>A	c.(742-744)gCg>gAg	p.A248E	KCNK16_ENST00000373227.4_Intron|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000437525.2_Missense_Mutation_p.A248E|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	248					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A248V(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GAGGATCAGCGCCAGCCACGC	0.642																																						ENST00000373229.5																			1	Substitution - Missense(1)	p.A248V(1)	large_intestine(1)	large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(742-744)gCg>gAg		potassium channel, subfamily K, member 16							29.0	31.0	31.0					6																	39284137		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284137G>T	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.743C>A	6.37:g.39284137G>T	ENSP00000362326:p.Ala248Glu					KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.A248E|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron	p.A248E	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN			5	756	-			248					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.743C>A	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076751	0.55753	.	.	ENSG00000095981	ENST00000373229;ENST00000437525	T;T	0.35236	1.32;1.32	5.11	4.23	0.50019	Ion transport 2 (1);	0.954854	0.08598	N	0.921933	T	0.63117	0.2484	H	0.95365	3.66	0.38973	D	0.958795	D;D	0.61080	0.989;0.989	P;P	0.61592	0.891;0.891	T	0.69015	-0.5257	10	0.87932	D	0	.	14.8222	0.70082	0.0:0.0:0.8546:0.1454	.	248;248	B5TJL9;Q96T55	.;KCNKG_HUMAN	E	248	ENSP00000362326:A248E;ENSP00000415375:A248E	ENSP00000362326:A248E	A	-	2	0	KCNK16	39392115	0.981000	0.34729	0.858000	0.33744	0.994000	0.84299	5.454000	0.66651	1.255000	0.44051	0.462000	0.41574	GCG		0.642	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		4	14	1	0	1.024e-07	1	1.11275e-07	4	14				
APOB	338	broad.mit.edu	37	2	21234141	21234141	+	Missense_Mutation	SNP	G	G	A	rs200583769		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:21234141G>A	ENST00000233242.1	-	26	5726	c.5599C>T	c.(5599-5601)Cgg>Tgg	p.R1867W		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1867				R -> G (in Ref. 4; AAB04636). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTTGAGCCGATGGCTAAAC	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5599-5601)Cgg>Tgg		apolipoprotein B	Atorvastatin(DB01076)	G	TRP/ARG	0,4406		0,0,2203	140.0	132.0	135.0		5599	3.6	1.0	2		135	3,8597	3.0+/-9.4	0,3,4297	yes	missense	APOB	NM_000384.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1867/4564	21234141	3,13003	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234141G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5599C>T	2.37:g.21234141G>A	ENSP00000233242:p.Arg1867Trp						p.R1867W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5726	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1867	R -> G (in Ref. 4; AAB04636).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5599C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157086	0.57259	0.0	3.49E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00873	5.59	5.58	3.61	0.41365	.	0.124184	0.34484	N	0.003927	T	0.03178	0.0093	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	T	0.52351	-0.8587	10	0.87932	D	0	.	12.2985	0.54860	0.0:0.0:0.4443:0.5557	.	1867	P04114	APOB_HUMAN	W	1867	ENSP00000233242:R1867W	ENSP00000233242:R1867W	R	-	1	2	APOB	21087646	0.966000	0.33281	1.000000	0.80357	0.996000	0.88848	2.461000	0.45040	1.286000	0.44565	0.650000	0.86243	CGG		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	133	0	0	0	1	0	7	133				
ZNF254	9534	broad.mit.edu	37	19	24309791	24309791	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:24309791C>T	ENST00000357002.4	+	4	1104	c.989C>T	c.(988-990)gCa>gTa	p.A330V	ZNF254_ENST00000342944.6_Missense_Mutation_p.A245V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	330					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGTGGCAAAGCATTTATATGG	0.403																																						ENST00000357002.4																			0											c.(988-990)gCa>gTa		zinc finger protein 254							53.0	53.0	53.0					19																	24309791		2202	4300	6502	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309791C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.989C>T	19.37:g.24309791C>T	ENSP00000349494:p.Ala330Val					ZNF254_ENST00000342944.6_Missense_Mutation_p.A245V	p.A330V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1104	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	330					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.989C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589335	0.28357	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.37411	5.41;1.2	1.11	-0.517	0.11947	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24275	0.0588	N	0.11364	0.135	0.09310	N	1	D	0.55172	0.97	P	0.52758	0.708	T	0.09618	-1.0666	9	0.49607	T	0.09	.	2.7381	0.05246	0.0:0.4574:0.3007:0.2419	.	330	O75437	ZN254_HUMAN	V	245;330	ENSP00000445527:A245V;ENSP00000349494:A330V	ENSP00000445527:A245V	A	+	2	0	ZNF254	24101631	0.001000	0.12720	0.001000	0.08648	0.550000	0.35303	0.335000	0.19806	-0.295000	0.08960	0.305000	0.20034	GCA		0.403	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		11	73	0	0	0	1	0	11	73				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657309	72657309	+	RNA	SNP	C	C	T	rs571461240		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:72657309C>T	ENST00000425256.1	-	0	2602									GTF2I repeat domain containing 2 pseudogene 1																		catcgcgttgcgatgtggagt	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18422	0.001		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			401375							g.chr7:72657309C>T	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657309C>T								NR_002164.1						0	2602	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	279	0	0	0	1	0	5	279				
PDE4D	5144	broad.mit.edu	37	5	58652657	58652657	+	Intron	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:58652657C>G	ENST00000340635.6	-	2	631				PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000405755.2_Missense_Mutation_p.D6H|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCCAGAGGATCCCAAACAAAA	0.532																																						ENST00000405755.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(16-18)Gat>Cat		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						48.0	45.0	46.0					5																	58652657		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58652657C>G		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.456-140863G>C	5.37:g.58652657C>G						PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron	p.D6H	NM_001197219.1	NP_001184148.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	144	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.16G>C	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325982	0.60743	.	.	ENSG00000113448	ENST00000405755	T	0.65916	-0.18	5.41	5.41	0.78517	.	2.430320	0.01767	N	0.030957	D	0.83514	0.5271	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67393	-0.5682	9	0.87932	D	0	.	17.5577	0.87897	0.0:1.0:0.0:0.0	.	6	Q08499-9	.	H	6	ENSP00000384806:D6H	ENSP00000384806:D6H	D	-	1	0	PDE4D	58688414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.807000	0.62576	2.826000	0.97356	0.655000	0.94253	GAT		0.532	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			5	32	0	0	0	1	0	5	32				
VRK3	51231	broad.mit.edu	37	19	50512578	50512578	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:50512578G>A	ENST00000599538.1	-	4	868	c.204C>T	c.(202-204)acC>acT	p.T68T	VRK3_ENST00000601341.1_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000316763.3_Silent_p.T68T|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000594948.1_Silent_p.T68T|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000593919.1_Silent_p.T68T|VRK3_ENST00000594092.1_Silent_p.T68T			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	68					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GAGAGGTGACGGTGCTGGACC	0.463																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(202-204)acC>acT		vaccinia related kinase 3							186.0	175.0	178.0					19																	50512578		2203	4300	6503	SO:0001819	synonymous_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50512578G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.204C>T	19.37:g.50512578G>A						VRK3_ENST00000377011.2_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594948.1_Silent_p.T68T|VRK3_ENST00000593919.1_Silent_p.T68T|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Silent_p.T68T|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000594092.1_Silent_p.T68T	p.T68T			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	4	868	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	68					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	ENST00000599538.1	37	c.204C>T	CCDS12791.1																																																																																				0.463	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		5	231	0	0	0	1	0	5	231				
CCS	9973	broad.mit.edu	37	11	66366595	66366595	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:66366595G>C	ENST00000533244.1	+	3	562	c.121G>C	c.(121-123)Gat>Cat	p.D41H	CCS_ENST00000310190.4_Missense_Mutation_p.D22H	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	41	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGGTGTCCAGGATGTGGAGGT	0.597																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(121-123)Gat>Cat		copper chaperone for superoxide dismutase							89.0	80.0	83.0					11																	66366595		2200	4295	6495	SO:0001583	missense	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366595G>C	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.121G>C	11.37:g.66366595G>C	ENSP00000436318:p.Asp41His					CCS_ENST00000310190.4_Missense_Mutation_p.D22H	p.D41H	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			3	562	+			41			HMA.		Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	c.121G>C	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	G	6.922	0.539698	0.13250	.	.	ENSG00000173992	ENST00000533244;ENST00000310190	D;D	0.86627	-2.15;-2.15	4.87	2.34	0.29019	Heavy metal-associated domain, HMA (3);	0.561377	0.20393	N	0.093203	T	0.77458	0.4133	L	0.35288	1.05	0.21220	N	0.99975	B	0.10296	0.003	B	0.18561	0.022	T	0.64892	-0.6300	10	0.46703	T	0.11	.	4.6268	0.12482	0.5387:0.0:0.4613:0.0	.	41	O14618	CCS_HUMAN	H	41;22	ENSP00000436318:D41H;ENSP00000307870:D22H	ENSP00000307870:D22H	D	+	1	0	CCS	66123171	0.647000	0.27304	0.240000	0.24138	0.251000	0.25915	0.411000	0.21115	0.298000	0.22638	0.561000	0.74099	GAT		0.597	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		6	74	0	0	0	1	0	6	74				
IFNA21	3452	broad.mit.edu	37	9	21166339	21166339	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:21166339G>A	ENST00000380225.1	-	1	320	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	91					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTTTGTGCTGAAGAGATTGA	0.488																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(271-273)ttC>ttT		interferon, alpha 21							112.0	113.0	113.0					9																	21166339		2203	4300	6503	SO:0001819	synonymous_variant	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166339G>A		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.273C>T	9.37:g.21166339G>A							p.F91F	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	320	-			91					Q14608|Q5VWD1|Q7M4Q4	Silent	SNP	ENST00000380225.1	37	c.273C>T	CCDS6497.1																																																																																				0.488	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		23	183	0	0	0	1	0	23	183				
DSEL	92126	broad.mit.edu	37	18	65179834	65179834	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:65179834A>C	ENST00000310045.7	-	2	3515	c.2042T>G	c.(2041-2043)aTg>aGg	p.M681R	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	671					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGGGTTCCATCTGAAAAGT	0.388																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2041-2043)aTg>aGg		dermatan sulfate epimerase-like							76.0	79.0	78.0					18																	65179834		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179834A>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2042T>G	18.37:g.65179834A>C	ENSP00000310565:p.Met681Arg					CTD-2541J13.2_ENST00000583493.1_RNA	p.M681R	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	3515	-		Esophageal squamous(42;0.129)	671					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2042T>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938627	0.34189	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19938	2.11	5.64	5.64	0.86602	.	0.048309	0.85682	U	0.000000	T	0.23766	0.0575	M	0.68317	2.08	0.46356	D	0.999004	P	0.45283	0.855	B	0.39068	0.289	T	0.04840	-1.0923	10	0.87932	D	0	.	10.7045	0.45948	0.9248:0.0:0.0752:0.0	.	671	Q8IZU8	DSEL_HUMAN	R	681;671	ENSP00000310565:M681R	ENSP00000310565:M681R	M	-	2	0	DSEL	63330814	1.000000	0.71417	0.985000	0.45067	0.817000	0.46193	7.420000	0.80191	2.155000	0.67459	0.379000	0.24179	ATG		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		28	62	0	0	0	1	0	28	62				
COL4A3	1285	broad.mit.edu	37	2	228120747	228120747	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:228120747A>T	ENST00000396578.3	+	16	1056	c.894A>T	c.(892-894)aaA>aaT	p.K298N	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	298	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTAGGGAAAACCCGGAAAAG	0.383																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(892-894)aaA>aaT		collagen, type IV, alpha 3 (Goodpasture antigen)							128.0	126.0	126.0					2																	228120747		1845	4084	5929	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228120747A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.894A>T	2.37:g.228120747A>T	ENSP00000379823:p.Lys298Asn					AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA	p.K298N	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	16	1056	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	298			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.894A>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.594093	0.46214	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93547	-3.24	5.8	2.17	0.27698	.	0.096709	0.45126	D	0.000385	D	0.93393	0.7893	L	0.46670	1.46	0.42859	D	0.994104	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	D;D;D;D	0.72338	0.922;0.951;0.968;0.977	D	0.89471	0.3743	10	0.31617	T	0.26	.	6.9595	0.24590	0.7203:0.0:0.2797:0.0	.	298;298;298;298	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	N	298	ENSP00000379823:K298N	ENSP00000323334:K298N	K	+	3	2	COL4A3	227828991	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	0.867000	0.27968	0.136000	0.18733	0.528000	0.53228	AAA		0.383	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		7	54	0	0	0	1	0	7	54				
SMARCC2	6601	broad.mit.edu	37	12	56571873	56571873	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:56571873G>C	ENST00000267064.4	-	15	1401	c.1315C>G	c.(1315-1317)Cat>Gat	p.H439D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.H439D|SMARCC2_ENST00000394023.3_Missense_Mutation_p.H439D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H439D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	439	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCAATGGCATGAACACTGCAA	0.488																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1315-1317)Cat>Gat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							87.0	83.0	84.0					12																	56571873		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56571873G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1315C>G	12.37:g.56571873G>C	ENSP00000267064:p.His439Asp					SMARCC2_ENST00000550164.1_Missense_Mutation_p.H439D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H439D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H439D	p.H439D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		15	1420	-			439			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1315C>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803769	0.90623	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.59083	0.29;0.3;0.33	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.122819	0.52532	D	0.000063	T	0.79924	0.4530	M	0.90019	3.08	0.80722	D	1	D;D;D;D;D	0.62365	0.991;0.96;0.968;0.991;0.96	D;D;D;D;D	0.76071	0.987;0.923;0.954;0.987;0.923	D	0.84565	0.0652	10	0.72032	D	0.01	-11.1823	16.2624	0.82553	0.0:0.0:1.0:0.0	.	328;439;444;439;439	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	439	ENSP00000449396:H439D;ENSP00000302919:H439D;ENSP00000267064:H439D	ENSP00000267064:H439D	H	-	1	0	SMARCC2	54858140	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.305000	0.96197	2.582000	0.87167	0.655000	0.94253	CAT		0.488	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			6	48	0	0	0	1	0	6	48				
KMT2C	58508	broad.mit.edu	37	7	151927091	151927091	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:151927091T>G	ENST00000262189.6	-	18	3111	c.2893A>C	c.(2893-2895)Agt>Cgt	p.S965R	KMT2C_ENST00000355193.2_Missense_Mutation_p.S965R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	965					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGCCAAAACTGCCACAAACT	0.348																																						ENST00000355193.2																			0											c.(2893-2895)Agt>Cgt		lysine (K)-specific methyltransferase 2C							62.0	51.0	55.0					7																	151927091		2200	4278	6478	SO:0001583	missense	58508							g.chr7:151927091T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2893A>C	7.37:g.151927091T>G	ENSP00000262189:p.Ser965Arg					KMT2C_ENST00000262189.6_Missense_Mutation_p.S965R	p.S965R							18	3111	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2893A>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.55|17.55	3.418184|3.418184	0.62622|0.62622	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.86956	.|-2.19;-2.19	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.48286	.|U	.|0.000188	D|D	0.92737|0.92737	0.7691|0.7691	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.996;0.998	D|D	0.93676|0.93676	0.6994|0.6994	5|10	.|0.87932	.|D	.|0	.|.	14.4054|14.4054	0.67079|0.67079	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|965;26	.|Q8NEZ4;Q8NEZ4-2	.|MLL3_HUMAN;.	P|R	120|965	.|ENSP00000262189:S965R;ENSP00000347325:S965R	.|ENSP00000262189:S965R	Q|S	-|-	2|1	0|0	MLL3|MLL3	151558024|151558024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.991000|7.991000	0.88244|0.88244	1.866000|1.866000	0.54105|0.54105	0.377000|0.377000	0.23210|0.23210	CAG|AGT		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			17	533	0	0	0	1	0	17	533				
PRDM9	56979	broad.mit.edu	37	5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Missense(1)	p.R758H(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2272-2274)cGc>cAc		PR domain containing 9							61.0	86.0	78.0					5																	23527470		2108	4293	6401	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527470G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2273G>A	5.37:g.23527470G>A	ENSP00000296682:p.Arg758His	HNSCC(3;0.000094)					p.R758H	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2455	+			758					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2273G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872598	0.17322	.	.	ENSG00000164256	ENST00000296682	T	0.36520	1.25	2.65	-0.287	0.12858	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	L	0.38953	1.18	0.09310	N	1	P	0.39116	0.66	B	0.32022	0.139	T	0.08027	-1.0742	9	0.59425	D	0.04	.	13.6102	0.62074	0.0:0.7866:0.2133:0.0	.	758	Q9NQV7	PRDM9_HUMAN	H	758	ENSP00000296682:R758H	ENSP00000296682:R758H	R	+	2	0	PRDM9	23563227	0.000000	0.05858	0.027000	0.17364	0.011000	0.07611	-0.776000	0.04674	-0.153000	0.11137	0.484000	0.47621	CGC		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		19	100	0	0	0	1	0	19	100				
PRPF4B	8899	broad.mit.edu	37	6	4044245	4044245	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:4044245G>C	ENST00000337659.6	+	6	1949	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E603Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	617					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AATGACAGTTGAACAGAATAA	0.403																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1849-1851)Gaa>Caa		pre-mRNA processing factor 4B							76.0	74.0	75.0					6																	4044245		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4044245G>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1849G>C	6.37:g.4044245G>C	ENSP00000337194:p.Glu617Gln					PRPF4B_ENST00000538861.1_Missense_Mutation_p.E603Q	p.E617Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			6	1949	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	617					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1849G>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349295	0.61183	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69806	-0.43;-0.43	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.25494	0.0620	N	0.00707	-1.245	0.58432	D	0.999997	B	0.17852	0.024	B	0.15870	0.014	T	0.29427	-1.0012	10	0.59425	D	0.04	.	19.0493	0.93036	0.0:0.0:1.0:0.0	.	617	Q13523	PRP4B_HUMAN	Q	617;603	ENSP00000337194:E617Q;ENSP00000439331:E603Q	ENSP00000337194:E617Q	E	+	1	0	PRPF4B	3989244	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.257000	0.72480	2.568000	0.86640	0.650000	0.86243	GAA		0.403	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			13	71	0	0	0	1	0	13	71				
CSMD3	114788	broad.mit.edu	37	8	113266510	113266510	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:113266510C>A	ENST00000297405.5	-	63	10326	c.10082G>T	c.(10081-10083)gGa>gTa	p.G3361V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3192V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3291V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3321V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3361	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCTGAGATCCATGCCGAGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10081-10083)gGa>gTa		CUB and Sushi multiple domains 3							203.0	201.0	202.0					8																	113266510		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113266510C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10082G>T	8.37:g.113266510C>A	ENSP00000297405:p.Gly3361Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G3321V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3192V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3291V	p.G3361V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			63	10326	-			3361			Sushi 27.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10082G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106772	0.56291	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.96	4.08	0.47627	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.86602	0.5972	H	0.96489	3.83	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.917	D;D;P	0.97110	1.0;0.984;0.62	D	0.90272	0.4308	10	0.72032	D	0.01	.	13.3742	0.60728	0.0:0.9248:0.0:0.0752	.	3192;3361;3321	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3321;3361;2631;3192;3291	ENSP00000345799:G3321V;ENSP00000297405:G3361V;ENSP00000341558:G2631V;ENSP00000412263:G3192V;ENSP00000343124:G3291V	ENSP00000297405:G3361V	G	-	2	0	CSMD3	113335686	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	7.188000	0.77739	1.325000	0.45301	-0.136000	0.14681	GGA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	246	1	0	8.12818e-05	1	8.46578e-05	5	246				
GBP5	115362	broad.mit.edu	37	1	89729475	89729475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89729475G>A	ENST00000370459.3	-	8	1433	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	GBP5_ENST00000343435.5_Nonsense_Mutation_p.Q436*|GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	436						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCTGTTTTCTGAATGAAGAGA	0.433																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1306-1308)Cag>Tag		guanylate binding protein 5							168.0	166.0	166.0					1																	89729475		2203	4300	6503	SO:0001587	stop_gained	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729475G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1306C>T	1.37:g.89729475G>A	ENSP00000359488:p.Gln436*					GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q436*	p.Q436*	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1842	-			436					B2RCE1|Q86TM5	Nonsense_Mutation	SNP	ENST00000370459.3	37	c.1306C>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	57	28.069494	0.99972	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	.	.	.	4.94	3.95	0.45737	.	0.507423	0.20702	N	0.087245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-11.6969	8.0506	0.30575	0.0:0.1703:0.6532:0.1765	.	.	.	.	X	436	.	ENSP00000340396:Q436X	Q	-	1	0	GBP5	89502063	0.005000	0.15991	0.994000	0.49952	0.706000	0.40770	0.325000	0.19628	2.762000	0.94881	0.551000	0.68910	CAG		0.433	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		28	208	0	0	0	1	0	28	208				
LRP2	4036	broad.mit.edu	37	2	170068605	170068605	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:170068605G>C	ENST00000263816.3	-	37	6438	c.6153C>G	c.(6151-6153)ctC>ctG	p.L2051L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2051	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TATCAGGATTGAGTTTAAATC	0.448																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6151-6153)ctC>ctG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						136.0	145.0	142.0					2																	170068605		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170068605G>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6153C>G	2.37:g.170068605G>C							p.L2051L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6438	-			2051			EGF-like 8.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.6153C>G	CCDS2232.1																																																																																				0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		15	160	0	0	0	1	0	15	160				
YPEL1	29799	broad.mit.edu	37	22	22057760	22057760	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:22057760C>T	ENST00000339468.3	-	4	552	c.169G>A	c.(169-171)Gtg>Atg	p.V57M		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	57						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCGCAGCCCACGTTCACCCTG	0.687																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(169-171)Gtg>Atg		yippee-like 1 (Drosophila)							76.0	66.0	69.0					22																	22057760		2203	4300	6503	SO:0001583	missense	29799					nucleus		g.chr22:22057760C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.169G>A	22.37:g.22057760C>T	ENSP00000342832:p.Val57Met						p.V57M	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN			4	552	-	Colorectal(54;0.105)		57					Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.169G>A	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348249	0.82132	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.07	1.97	0.26223	.	0.137650	0.47093	D	0.000251	T	0.77870	0.4195	H	0.94658	3.565	0.80722	D	1	D	0.60575	0.988	P	0.55615	0.78	T	0.80672	-0.1278	9	0.72032	D	0.01	.	9.1345	0.36866	0.147:0.7745:0.0:0.0785	.	57	O60688	YPEL1_HUMAN	M	57	.	ENSP00000342832:V57M	V	-	1	0	YPEL1	20387760	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	7.650000	0.83521	0.680000	0.31366	0.558000	0.71614	GTG		0.687	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		4	90	0	0	0	1	0	4	90				
PPP2R3A	5523	broad.mit.edu	37	3	135801131	135801131	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801131G>A	ENST00000264977.3	+	8	3273	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E265K|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E150K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	886					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAAGAGGAAGATATAAA	0.338																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2656-2658)Gaa>Aaa		protein phosphatase 2, regulatory subunit B'', alpha							88.0	94.0	92.0					3																	135801131		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801131G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2656G>A	3.37:g.135801131G>A	ENSP00000264977:p.Glu886Lys					PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E150K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E265K	p.E886K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3273	+			886					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2656G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608469	0.96626	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.51325	0.71;0.71;0.71	5.49	5.49	0.81192	.	0.105128	0.64402	D	0.000008	T	0.71082	0.3298	M	0.92268	3.29	0.80722	D	1	P;P	0.47191	0.534;0.891	B;P	0.52424	0.373;0.698	T	0.78168	-0.2309	10	0.59425	D	0.04	.	18.3583	0.90365	0.0:0.0:1.0:0.0	.	265;886	Q06190-2;Q06190	.;P2R3A_HUMAN	K	886;150;265	ENSP00000264977:E886K;ENSP00000419344:E150K;ENSP00000334748:E265K	ENSP00000264977:E886K	E	+	1	0	PPP2R3A	137283821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.593000	0.87608	0.563000	0.77884	GAA		0.338	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		24	627	0	0	0	1	0	24	627				
NT5E	4907	broad.mit.edu	37	6	86201737	86201737	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:86201737G>C	ENST00000257770.3	+	8	1452	c.1403G>C	c.(1402-1404)aGa>aCa	p.R468T	NT5E_ENST00000369651.3_Missense_Mutation_p.R418T	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	468					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CCTGGAGACAGAGTAGTCAAA	0.423																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1402-1404)aGa>aCa		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						168.0	168.0	168.0					6																	86201737		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86201737G>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1403G>C	6.37:g.86201737G>C	ENSP00000257770:p.Arg468Thr					NT5E_ENST00000369651.3_Missense_Mutation_p.R418T	p.R468T	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	1452	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	468					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1403G>C	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763051|3.763051	0.69763|0.69763	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334|ENST00000257770;ENST00000369651	.|T;T	.|0.64618	.|-0.11;-0.11	5.87|5.87	5.87|5.87	0.94306|0.94306	.|5&apos (3);-Nucleotidase, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84032|0.84032	0.5383|0.5383	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.85997|0.85997	0.1492|0.1492	5|10	.|0.62326	.|D	.|0.03	-31.7797|-31.7797	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|418;468	.|B3KQI8;P21589	.|.;5NTD_HUMAN	Q|T	183|468;418	.|ENSP00000257770:R468T;ENSP00000358665:R418T	.|ENSP00000257770:R468T	E|R	+|+	1|2	0|0	NT5E|NT5E	86258456|86258456	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.179000|0.179000	0.23085|0.23085	9.223000|9.223000	0.95203|0.95203	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.423	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			27	243	0	0	0	1	0	27	243				
RSPH3	83861	broad.mit.edu	37	6	159403538	159403538	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:159403538C>G	ENST00000252655.1	-	5	1290	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D	RSPH3_ENST00000449822.1_Missense_Mutation_p.E129D|RSPH3_ENST00000367069.2_Missense_Mutation_p.E225D|RSPH3_ENST00000297262.3_Missense_Mutation_p.E271D	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	367										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGTGTCGCCTCTCTTGCTCTT	0.398																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(673-675)gaG>gaC		radial spoke 3 homolog (Chlamydomonas)							66.0	59.0	61.0					6																	159403538		2203	4300	6503	SO:0001583	missense	83861							g.chr6:159403538C>G	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1101G>C	6.37:g.159403538C>G	ENSP00000252655:p.Glu367Asp					RSPH3_ENST00000449822.1_Missense_Mutation_p.E129D|RSPH3_ENST00000297262.3_Missense_Mutation_p.E271D|RSPH3_ENST00000252655.1_Missense_Mutation_p.E367D	p.E225D			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	5	1311	-		Breast(66;0.00519)|Ovarian(120;0.123)	367					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.675G>C	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290133	0.59976	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.98	4.07	0.47477	.	0.093806	0.64402	D	0.000001	T	0.20901	0.0503	M	0.62088	1.915	0.46241	D	0.998948	P;P	0.46859	0.885;0.837	P;P	0.48598	0.481;0.583	T	0.00934	-1.1509	10	0.40728	T	0.16	-18.4357	15.1494	0.72684	0.0:0.7638:0.2362:0.0	.	271;367	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	D	225;129;367;271	ENSP00000356036:E225D;ENSP00000393195:E129D;ENSP00000252655:E367D;ENSP00000297262:E271D	ENSP00000252655:E367D	E	-	3	2	RSPH3	159323526	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.768000	0.38511	2.591000	0.87537	0.655000	0.94253	GAG		0.398	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		4	116	0	0	0	1	0	4	116				
KCNMB3	27094	broad.mit.edu	37	3	178968832	178968832	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:178968832C>T	ENST00000314235.5	-	1	571	c.60G>A	c.(58-60)acG>acA	p.T20T	KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000497599.1_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	20					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	ACCTGTGTCTCGTGAGCAGGA	0.418																																						ENST00000314235.5																			0				NS(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(58-60)acG>acA		potassium large conductance calcium-activated channel, subfamily M beta member 3							144.0	140.0	141.0					3																	178968832		2203	4300	6503	SO:0001819	synonymous_variant	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178968832C>T	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.60G>A	3.37:g.178968832C>T						KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000349697.2_Intron	p.T20T	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	571	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		20					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000314235.5	37	c.60G>A	CCDS3226.1																																																																																				0.418	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			13	179	0	0	0	1	0	13	179				
ZNF736	728927	broad.mit.edu	37	7	63808903	63808903	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:63808903G>A	ENST00000423484.2	+	4	784	c.662G>A	c.(661-663)aGa>aAa	p.R221K	ZNF736_ENST00000355095.4_Missense_Mutation_p.R221K			B4DX44	ZN736_HUMAN	zinc finger protein 736	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						GAACATAAGAGAGTTCATACT	0.358																																						ENST00000355095.4																			0				breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						c.(661-663)aGa>aAa		zinc finger protein 736							19.0	19.0	19.0					7																	63808903		692	1591	2283	SO:0001583	missense	728927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63808903G>A		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.662G>A	7.37:g.63808903G>A	ENSP00000400852:p.Arg221Lys					ZNF736_ENST00000423484.1_Missense_Mutation_p.R221K	p.R221K	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN			5	984	+			221						Missense_Mutation	SNP	ENST00000423484.2	37	c.662G>A	CCDS55114.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712052	0.30322	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.18338	2.22;2.22	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	L	0.27944	0.81	0.20403	N	0.999901	B	0.30889	0.299	B	0.27715	0.082	T	0.29397	-1.0013	9	0.31617	T	0.26	.	7.7295	0.28779	0.0:0.0:1.0:0.0	.	221	B4DX44	ZN736_HUMAN	K	221	ENSP00000347210:R221K;ENSP00000400852:R221K	ENSP00000347210:R221K	R	+	2	0	ZNF736	63446338	0.049000	0.20398	0.043000	0.18650	0.867000	0.49689	2.434000	0.44802	0.555000	0.29079	0.305000	0.20034	AGA		0.358	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		3	11	0	0	0	1	0	3	11				
TRIM48	79097	broad.mit.edu	37	11	55032682	55032682	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55032682G>T	ENST00000417545.2	+	2	437	c.351G>T	c.(349-351)aaG>aaT	p.K117N		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	101						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACAAAGAAGATGTTCTGTG	0.532																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(349-351)aaG>aaT		tripartite motif containing 48							82.0	75.0	77.0					11																	55032682		2187	4260	6447	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032682G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.351G>T	11.37:g.55032682G>T	ENSP00000402414:p.Lys117Asn						p.K117N	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	437	+			101					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.351G>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	11.35	1.611527	0.28712	.	.	ENSG00000150244	ENST00000417545	T	0.44482	0.92	0.432	0.432	0.16529	Zinc finger, B-box (3);	.	.	.	.	T	0.40719	0.1128	L	0.53729	1.69	0.22354	N	0.999174	P	0.36110	0.537	P	0.45406	0.479	T	0.39482	-0.9612	9	0.48119	T	0.1	.	2.9332	0.05805	0.3861:0.0:0.6139:0.0	.	101	Q8IWZ4	TRI48_HUMAN	N	117	ENSP00000402414:K117N	ENSP00000402414:K117N	K	+	3	2	TRIM48	54789258	1.000000	0.71417	0.819000	0.32651	0.710000	0.40934	2.124000	0.42006	0.502000	0.28037	0.121000	0.15741	AAG		0.532	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	92	1	0	0.00621372	1	0.00629091	9	92				
RTTN	25914	broad.mit.edu	37	18	67727260	67727260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:67727260G>T	ENST00000255674.6	-	36	5052	c.4766C>A	c.(4765-4767)tCa>tAa	p.S1589*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1589					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGGCCGTGGTGATGTACTTTC	0.378																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4765-4767)tCa>tAa		rotatin							123.0	128.0	127.0					18																	67727260		1969	4139	6108	SO:0001587	stop_gained	25914						binding	g.chr18:67727260G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4766C>A	18.37:g.67727260G>T	ENSP00000255674:p.Ser1589*					RTTN_ENST00000454359.1_3'UTR	p.S1589*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			36	5052	-		Esophageal squamous(42;0.129)	1589					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.4766C>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	43	10.191261	0.99355	.	.	ENSG00000176225	ENST00000255674	.	.	.	5.92	5.05	0.67936	.	0.943557	0.08886	N	0.879370	.	.	.	.	.	.	0.37062	D	0.898099	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3701	0.55250	0.0785:0.0:0.9215:0.0	.	.	.	.	X	1589	.	ENSP00000255674:S1589X	S	-	2	0	RTTN	65878240	0.303000	0.24463	0.004000	0.12327	0.031000	0.12232	2.167000	0.42415	1.530000	0.49136	-0.145000	0.13849	TCA		0.378	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		4	46	1	0	1.23904e-05	1	1.30721e-05	4	46				
CACNA2D1	781	broad.mit.edu	37	7	81589082	81589082	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:81589082C>G	ENST00000356253.5	-	37	3321	c.3066G>C	c.(3064-3066)ggG>ggC	p.G1022G	CACNA2D1_ENST00000356860.3_Silent_p.G1010G|CACNA2D1_ENST00000535308.1_Silent_p.G222G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1022					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGGACATGTCCCTTTGCTCT	0.373																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3028-3030)ggG>ggC		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						100.0	88.0	92.0					7																	81589082		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81589082C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3066G>C	7.37:g.81589082C>G						CACNA2D1_ENST00000535308.1_Silent_p.G222G|CACNA2D1_ENST00000356253.5_Silent_p.G1022G	p.G1010G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			37	3368	-			1022					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.3030G>C																																																																																					0.373	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				15	59	0	0	0	1	0	15	59				
DSCAM	1826	broad.mit.edu	37	21	41496213	41496213	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr21:41496213G>C	ENST00000400454.1	-	20	4082	c.3605C>G	c.(3604-3606)gCc>gGc	p.A1202G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1202	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCATGGAGGCTGAGGCCGC	0.587																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3604-3606)gCc>gGc		Down syndrome cell adhesion molecule							87.0	99.0	95.0					21																	41496213		2028	4178	6206	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496213G>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3605C>G	21.37:g.41496213G>C	ENSP00000383303:p.Ala1202Gly						p.A1202G	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			20	4082	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1202			Fibronectin type-III 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3605C>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288302	0.40494	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57752	0.38;0.38	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.186051	0.50627	D	0.000106	T	0.40297	0.1111	N	0.17723	0.515	0.34835	D	0.740099	B	0.06786	0.001	B	0.10450	0.005	T	0.41574	-0.9501	10	0.20519	T	0.43	.	18.7183	0.91684	0.0:0.0:1.0:0.0	.	1202	O60469	DSCAM_HUMAN	G	1202;954	ENSP00000383303:A1202G;ENSP00000385342:A954G	ENSP00000383303:A1202G	A	-	2	0	DSCAM	40418083	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	2.468000	0.45102	2.392000	0.81423	0.563000	0.77884	GCC		0.587	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		20	136	0	0	0	1	0	20	136				
CLEC16A	23274	broad.mit.edu	37	16	11071202	11071202	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:11071202G>A	ENST00000409790.1	+	8	1079	c.849G>A	c.(847-849)ctG>ctA	p.L283L	CLEC16A_ENST00000409552.3_Silent_p.L281L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGACCACCTGCTCAACAGGC	0.557																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(847-849)ctG>ctA		C-type lectin domain family 16, member A							119.0	117.0	117.0					16																	11071202		2065	4219	6284	SO:0001819	synonymous_variant	23274							g.chr16:11071202G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.849G>A	16.37:g.11071202G>A						CLEC16A_ENST00000409552.3_Silent_p.L281L	p.L283L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			8	1079	+			283						Silent	SNP	ENST00000409790.1	37	c.849G>A	CCDS45409.1																																																																																				0.557	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		4	57	0	0	0	1	0	4	57				
EFCAB13	124989	broad.mit.edu	37	17	45451889	45451889	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:45451889C>G	ENST00000331493.2	+	12	1340	c.929C>G	c.(928-930)tCa>tGa	p.S310*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.S214*	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	310						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AGAAAGTTATCAAGTGTAGCA	0.284																																						ENST00000331493.2																			0											c.(928-930)tCa>tGa		EF-hand calcium binding domain 13							32.0	36.0	35.0					17																	45451889		2189	4257	6446	SO:0001587	stop_gained	124989							g.chr17:45451889C>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.929C>G	17.37:g.45451889C>G	ENSP00000332111:p.Ser310*					EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.S214*	p.S310*	NM_152347.4	NP_689560.3					12	1340	+								G3V128|Q49AG9	Nonsense_Mutation	SNP	ENST00000331493.2	37	c.929C>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050809	0.75960	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	.	.	.	4.02	0.902	0.19290	.	1.698390	0.03555	N	0.226164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.7199	5.8797	0.18848	0.0:0.6543:0.0:0.3457	.	.	.	.	X	310;214;262	.	ENSP00000332111:S310X	S	+	2	0	C17orf57	42806888	0.001000	0.12720	0.007000	0.13788	0.104000	0.19210	0.502000	0.22594	0.122000	0.18314	-0.237000	0.12165	TCA		0.284	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		12	125	0	0	0	1	0	12	125				
NDC80	10403	broad.mit.edu	37	18	2587842	2587842	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:2587842A>G	ENST00000261597.4	+	8	865	c.683A>G	c.(682-684)tAc>tGc	p.Y228C		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	228	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTTTTGGACTACACCATAAAA	0.358																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(682-684)tAc>tGc		NDC80 kinetochore complex component							125.0	119.0	121.0					18																	2587842		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2587842A>G	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.683A>G	18.37:g.2587842A>G	ENSP00000261597:p.Tyr228Cys						p.Y228C	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			8	865	+			228			Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.683A>G	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389205	0.61956	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.68331	-0.32	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82382	-0.0485	10	0.66056	D	0.02	-7.9471	15.9892	0.80188	1.0:0.0:0.0:0.0	.	228	O14777	NDC80_HUMAN	C	228	ENSP00000261597:Y228C	ENSP00000261597:Y228C	Y	+	2	0	NDC80	2577842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.070000	0.76763	2.180000	0.69256	0.533000	0.62120	TAC		0.358	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		37	141	0	0	0	1	0	37	141				
TCHH	7062	broad.mit.edu	37	1	152083709	152083709	+	Missense_Mutation	SNP	C	C	T	rs199860960	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:152083709C>T	ENST00000368804.1	-	2	1983	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	662	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCCTCGCGCTTCAGC	0.667													c|||	3	0.000599042	0.0	0.0	5008	,	,		17550	0.0		0.003	False		,,,				2504	0.0					ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1984-1986)Gag>Aag		trichohyalin			LYS/GLU	0,3984		0,0,1992	50.0	59.0	56.0		1984	2.0	0.0	1		56	1,8325		0,1,4162	no	missense	TCHH	NM_007113.2	56	0,1,6154	TT,TC,CC		0.012,0.0,0.0081	benign	662/1944	152083709	1,12309	1992	4163	6155	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083709C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1984G>A	1.37:g.152083709C>T	ENSP00000357794:p.Glu662Lys						p.E662K	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1983	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		662			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1984G>A	CCDS41396.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	c	10.28	1.307708	0.23821	0.0	1.2E-4	ENSG00000159450	ENST00000368804	T	0.05447	3.44	3.88	1.96	0.26148	.	.	.	.	.	T	0.00845	0.0028	N	0.24115	0.695	0.09310	N	1	B	0.34399	0.452	B	0.20184	0.028	T	0.46400	-0.9194	9	0.09843	T	0.71	.	5.8464	0.18669	0.0:0.6433:0.0:0.3567	.	662	Q07283	TRHY_HUMAN	K	662	ENSP00000357794:E662K	ENSP00000357794:E662K	E	-	1	0	TCHH	150350333	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-1.729000	0.01856	0.162000	0.19483	0.451000	0.29950	GAG		0.667	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	146	0	0	0	1	0	7	146				
TNFRSF13B	23495	broad.mit.edu	37	17	16843026	16843026	+	Silent	SNP	C	C	T	rs199603343	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:16843026C>T	ENST00000261652.2	-	5	729	c.717G>A	c.(715-717)gcG>gcA	p.A239A	TNFRSF13B_ENST00000583789.1_Silent_p.A193A|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Silent_p.A193A|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	239					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.A239A(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCTGCGTGGGCGCCCTGCACT	0.672									IgA Deficiency, Selective				.|||	2	0.000399361	0.0008	0.0	5008	,	,		16038	0.0		0.0	False		,,,				2504	0.001					ENST00000437538.2																			1	Substitution - coding silent(1)	p.A239A(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(577-579)gcG>gcA		tumor necrosis factor receptor superfamily, member 13B							32.0	31.0	32.0					17																	16843026		2203	4300	6503	SO:0001819	synonymous_variant	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843026C>T	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.717G>A	17.37:g.16843026C>T						TNFRSF13B_ENST00000261652.2_Silent_p.A239A|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Silent_p.A193A	p.A193A			O14836	TR13B_HUMAN			4	587	-			239					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	ENST00000261652.2	37	c.579G>A	CCDS11181.1																																																																																				0.672	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			6	26	0	0	0	1	0	6	26				
NHS	4810	broad.mit.edu	37	X	17746841	17746841	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:17746841T>G	ENST00000380060.3	+	7	4570	c.4232T>G	c.(4231-4233)tTc>tGc	p.F1411C	NHS_ENST00000398097.3_Missense_Mutation_p.F1255C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1432					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGGGTGTGTTCGTGTCTCCA	0.413																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4231-4233)tTc>tGc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							96.0	86.0	90.0					X																	17746841		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746841T>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4232T>G	X.37:g.17746841T>G	ENSP00000369400:p.Phe1411Cys					NHS_ENST00000398097.3_Missense_Mutation_p.F1255C	p.F1411C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			7	4570	+	Hepatocellular(33;0.183)		1411					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4232T>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449482	0.84101	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52526	0.66;0.67	6.06	6.06	0.98353	.	0.048610	0.85682	D	0.000000	T	0.66665	0.2812	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.939;0.939;0.939;0.994	T	0.65796	-0.6081	10	0.38643	T	0.18	-11.7737	15.4998	0.75687	0.0:0.0:0.0:1.0	.	1432;1253;1255;1411	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	1411;1255;1253	ENSP00000369400:F1411C;ENSP00000381170:F1255C	ENSP00000369397:F1253C	F	+	2	0	NHS	17656762	1.000000	0.71417	0.782000	0.31804	0.962000	0.63368	7.600000	0.82769	2.044000	0.60594	0.486000	0.48141	TTC		0.413	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		18	135	0	0	0	1	0	18	135				
XRN2	22803	broad.mit.edu	37	20	21367541	21367541	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:21367541G>A	ENST00000377191.3	+	29	2779	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	XRN2_ENST00000430571.2_Missense_Mutation_p.R819Q|XRN2_ENST00000539513.1_Missense_Mutation_p.R841Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCATGGAACCGGATGCTGCAA	0.527																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2683-2685)cGg>cAg		5'-3' exoribonuclease 2							118.0	115.0	116.0					20																	21367541		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21367541G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2684G>A	20.37:g.21367541G>A	ENSP00000366396:p.Arg895Gln					XRN2_ENST00000539513.1_Missense_Mutation_p.R841Q|XRN2_ENST00000430571.2_Missense_Mutation_p.R819Q	p.R895Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			29	2779	+			895					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2684G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540120	0.65085	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.30182	1.55;1.55;1.54	6.17	6.17	0.99709	.	0.125415	0.51477	D	0.000091	T	0.36826	0.0981	L	0.27053	0.805	0.42169	D	0.991631	D	0.64830	0.994	P	0.61201	0.885	T	0.02789	-1.1110	10	0.21540	T	0.41	-15.5136	13.2493	0.60041	0.0721:0.0:0.9279:0.0	.	895	Q9H0D6	XRN2_HUMAN	Q	895;819;841	ENSP00000366396:R895Q;ENSP00000413548:R819Q;ENSP00000441113:R841Q	ENSP00000366396:R895Q	R	+	2	0	XRN2	21315541	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.022000	0.57203	2.941000	0.99782	0.655000	0.94253	CGG		0.527	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		29	121	0	0	0	1	0	29	121				
KCNH1	3756	broad.mit.edu	37	1	210857444	210857444	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:210857444C>G	ENST00000271751.4	-	11	2176	c.2149G>C	c.(2149-2151)Gag>Cag	p.E717Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.E690Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	717	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CGTTCTTCCTCTTCACGTTTC	0.562																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2068-2070)Gag>Cag		potassium voltage-gated channel, subfamily H (eag-related), member 1							70.0	65.0	67.0					1																	210857444		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857444C>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2149G>C	1.37:g.210857444C>G	ENSP00000271751:p.Glu717Gln					KCNH1_ENST00000271751.4_Missense_Mutation_p.E717Q	p.E690Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2237	-			717			Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2068G>C	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882619	0.51908	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	T;T	0.19105	2.17;2.17	4.49	4.49	0.54785	.	0.101211	0.64402	D	0.000003	T	0.20495	0.0493	L	0.42686	1.345	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.15484	0.013;0.013	T	0.03898	-1.0994	10	0.23891	T	0.37	.	17.1946	0.86890	0.0:1.0:0.0:0.0	.	690;717	Q14CL3;O95259	.;KCNH1_HUMAN	Q	717;690	ENSP00000271751:E717Q;ENSP00000355974:E690Q	ENSP00000271751:E717Q	E	-	1	0	KCNH1	208924067	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.503000	0.81632	2.050000	0.60909	0.462000	0.41574	GAG		0.562	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		4	98	0	0	0	1	0	4	98				
EPHA6	285220	broad.mit.edu	37	3	97167436	97167436	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97167436T>A	ENST00000389672.5	+	7	1794	c.1756T>A	c.(1756-1758)Tcc>Acc	p.S586T	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	492						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACCTACTCTTCCACAAGGTC	0.443																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1756-1758)Tcc>Acc		EPH receptor A6							113.0	110.0	111.0					3																	97167436		1892	4128	6020	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167436T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1756T>A	3.37:g.97167436T>A	ENSP00000374323:p.Ser586Thr					EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR	p.S586T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			7	1794	+			491					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1756T>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658579	0.29515	.	.	ENSG00000080224	ENST00000389672	T	0.56275	0.47	5.46	5.46	0.80206	.	.	.	.	.	T	0.36936	0.0985	N	0.16098	0.37	0.80722	D	1	.	.	.	.	.	.	T	0.23404	-1.0189	7	0.02654	T	1	.	15.5277	0.75925	0.0:0.0:0.0:1.0	.	.	.	.	T	586	ENSP00000374323:S586T	ENSP00000374323:S586T	S	+	1	0	EPHA6	98650126	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.874000	0.69652	2.065000	0.61736	0.533000	0.62120	TCC		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		9	111	0	0	0	1	0	9	111				
OR4C15	81309	broad.mit.edu	37	11	55322163	55322163	+	Silent	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55322163A>T	ENST00000314644.2	+	1	381	c.381A>T	c.(379-381)tcA>tcT	p.S127S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGTGCTTCTCATCTGTCATCA	0.458										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(379-381)tcA>tcT		olfactory receptor, family 4, subfamily C, member 15							189.0	156.0	167.0					11																	55322163		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322163A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.381A>T	11.37:g.55322163A>T		HNSCC(20;0.049)					p.S127S	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	381	+			73					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.381A>T	CCDS31501.1																																																																																				0.458	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		45	199	0	0	0	1	0	45	199				
EMC2	9694	broad.mit.edu	37	8	109482328	109482328	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:109482328G>A	ENST00000220853.3	+	7	522	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	163						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGAACTTGCAGAACTTTACAT	0.353																																						ENST00000220853.3																			0											c.(487-489)Gaa>Aaa		ER membrane protein complex subunit 2							59.0	55.0	57.0					8																	109482328		2203	4300	6503	SO:0001583	missense	9694							g.chr8:109482328G>A	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.487G>A	8.37:g.109482328G>A	ENSP00000220853:p.Glu163Lys					EMC2_ENST00000520294.1_3'UTR	p.E163K	NM_014673.3	NP_055488.1					7	522	+								Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.487G>A	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629747	0.87660	.	.	ENSG00000104412	ENST00000220853	T	0.77750	-1.12	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	L	0.51422	1.61	0.80722	D	1	P	0.52170	0.951	P	0.55011	0.766	T	0.77776	-0.2461	10	0.25751	T	0.34	-16.8813	20.0919	0.97823	0.0:0.0:1.0:0.0	.	163	Q15006	TTC35_HUMAN	K	163	ENSP00000220853:E163K	ENSP00000220853:E163K	E	+	1	0	TTC35	109551504	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.251000	0.95483	2.810000	0.96702	0.650000	0.86243	GAA		0.353	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		7	79	0	0	0	1	0	7	79				
MACF1	23499	broad.mit.edu	37	1	39854292	39854292	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:39854292G>A	ENST00000372915.3	+	57	15880	c.15793G>A	c.(15793-15795)Gaa>Aaa	p.E5265K	MACF1_ENST00000539005.1_Missense_Mutation_p.E3177K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3198K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3198K|MACF1_ENST00000564288.1_Missense_Mutation_p.E5260K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3700K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3198K|MACF1_ENST00000567887.1_Missense_Mutation_p.E5297K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5265					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGGGGACCGAAGTGGAAAT	0.428																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15778-15780)Gaa>Aaa		microtubule-actin crosslinking factor 1							95.0	102.0	100.0					1																	39854292		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39854292G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15793G>A	1.37:g.39854292G>A	ENSP00000362006:p.Glu5265Lys					MACF1_ENST00000567887.1_Missense_Mutation_p.E5297K|MACF1_ENST00000372915.3_Missense_Mutation_p.E5265K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3700K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3198K|MACF1_ENST00000539005.1_Missense_Mutation_p.E3177K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3198K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3198K	p.E5260K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16555	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5265					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15778G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.637331|4.637331	0.87760|0.87760	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.75649|0.75649	0.3878|0.3878	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.995;0.993;0.998|.	T|T	0.73216|0.73216	-0.4053|-0.4053	10|5	0.87932|.	D|.	0|.	.|.	19.7625|19.7625	0.96325|0.96325	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5265;3198;3142|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	K|Q	3198;5265;3198;3198;3177;3700|2310	ENSP00000439537:E3198K;ENSP00000362006:E5265K;ENSP00000354573:E3198K;ENSP00000313438:E3198K;ENSP00000444364:E3177K;ENSP00000289893:E3700K|.	ENSP00000289893:E3700K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39626879|39626879	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.933000|0.933000	0.57130|0.57130	9.864000|9.864000	0.99589|0.99589	2.663000|2.663000	0.90544|0.90544	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	146	0	0	0	1	0	11	146				
SERINC5	256987	broad.mit.edu	37	5	79441913	79441913	+	Splice_Site	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:79441913T>C	ENST00000507668.2	-	11	1388	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	SERINC5_ENST00000512721.1_Splice_Site_p.N413S|CTC-458I2.2_ENST00000511484.1_RNA|SERINC5_ENST00000512972.2_Splice_Site_p.K413R|SERINC5_ENST00000509193.1_Splice_Site_p.K411R	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	413					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCCACTCACTTGAACCAGTT	0.428																																						ENST00000507668.2																			0				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8						c.e11+1		serine incorporator 5							110.0	106.0	107.0					5																	79441913		1966	4156	6122	SO:0001630	splice_region_variant	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79441913T>C	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.1238+1A>G	5.37:g.79441913T>C						SERINC5_ENST00000512972.2_Splice_Site_p.K413_splice|SERINC5_ENST00000512721.1_Splice_Site_p.N413_splice|SERINC5_ENST00000509193.1_Splice_Site_p.K411_splice	p.N413_splice	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	11	1388	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	413					B4DMH7|Q495A4|Q495A6	Splice_Site	SNP	ENST00000507668.2	37	c.1238_splice	CCDS54873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.641|8.641	0.896066|0.896066	0.17686|0.17686	.|.	.|.	ENSG00000164300|ENSG00000164300	ENST00000509193;ENST00000512972|ENST00000507668;ENST00000329637;ENST00000512721	T;T|T;T	0.14144|0.12255	3.52;2.53|2.7;2.7	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|.	.|.	.|.	.|.	T|T	0.06600|0.06600	0.0169|0.0169	N|N	0.02751|0.02751	-0.505|-0.505	0.34433|0.34433	D|D	0.698753|0.698753	B;B|P;B	0.17038|0.36027	0.004;0.02|0.533;0.112	B;B|B;B	0.12156|0.35182	0.007;0.007|0.197;0.13	T|T	0.42292|0.42292	-0.9460|-0.9460	8|8	.|.	.|.	.|.	.|.	14.6547|14.6547	0.68825|0.68825	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	413;411|413;413	Q86VE9-2;D6RHG7|B4DMH7;Q86VE9	.;.|.;SERC5_HUMAN	R|S	411;413|413;412;413	ENSP00000426134:K411R;ENSP00000421665:K413R|ENSP00000426237:N413S;ENSP00000420863:N413S	.|.	K|N	-|-	2|2	0|0	SERINC5|SERINC5	79477669|79477669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.766000|4.766000	0.62279|0.62279	2.102000|2.102000	0.63906|0.63906	0.529000|0.529000	0.55759|0.55759	AAA|AAC		0.428	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276	Missense_Mutation	6	78	0	0	0	1	0	6	78				
ZNF468	90333	broad.mit.edu	37	19	53344884	53344884	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53344884G>A	ENST00000595646.1	-	4	783	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ZNF468_ENST00000396409.4_Silent_p.F168F|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.F168F|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAAGGATTTGAAGCTCTGTA	0.313																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(661-663)ttC>ttT		zinc finger protein 468							75.0	72.0	73.0					19																	53344884		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344884G>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.663C>T	19.37:g.53344884G>A						ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.F168F|ZNF468_ENST00000396409.4_Silent_p.F168F|ZNF468_ENST00000243639.4_3'UTR	p.F221F			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	783	-			221					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.663C>T	CCDS33094.1																																																																																				0.313	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		26	99	0	0	0	1	0	26	99				
NUSAP1	51203	broad.mit.edu	37	15	41641367	41641367	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:41641367G>A	ENST00000559596.1	+	3	321	c.234G>A	c.(232-234)gaG>gaA	p.E78E	NUSAP1_ENST00000560177.1_Silent_p.E78E|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.E78E|NUSAP1_ENST00000414849.2_Silent_p.E78E|NUSAP1_ENST00000560747.1_Silent_p.E78E|NUSAP1_ENST00000260359.6_Silent_p.E78E|NUSAP1_ENST00000450592.2_Silent_p.E55E			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	78					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AAGAAGCTGAGAGACAGCCAC	0.438																																						ENST00000260359.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13						c.(232-234)gaG>gaA		nucleolar and spindle associated protein 1							84.0	88.0	87.0					15																	41641367		2034	4204	6238	SO:0001819	synonymous_variant	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41641367G>A	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.234G>A	15.37:g.41641367G>A						NUSAP1_ENST00000560747.1_Silent_p.E78E|NUSAP1_ENST00000450318.1_Silent_p.E78E|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Silent_p.E78E|NUSAP1_ENST00000450592.2_Silent_p.E55E|NUSAP1_ENST00000559596.1_Silent_p.E78E|NUSAP1_ENST00000560177.1_Silent_p.E78E	p.E78E	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	3	498	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	78					B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	ENST00000559596.1	37	c.234G>A	CCDS45234.1																																																																																				0.438	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		6	34	0	0	0	1	0	6	34				
PRSS35	167681	broad.mit.edu	37	6	84234053	84234053	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:84234053C>T	ENST00000369700.3	+	2	1070	c.893C>T	c.(892-894)aCg>aTg	p.T298M	PRSS35_ENST00000536636.1_Missense_Mutation_p.T298M	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	298	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATCAGCCCAACGATCAAGAAA	0.483																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(892-894)aCg>aTg		protease, serine, 35							99.0	96.0	97.0					6																	84234053		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234053C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.893C>T	6.37:g.84234053C>T	ENSP00000358714:p.Thr298Met					PRSS35_ENST00000369700.3_Missense_Mutation_p.T298M	p.T298M	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1238	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	298			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.893C>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844630	0.32606	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.44881	0.91;0.91	5.91	4.06	0.47325	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.377447	0.30464	N	0.009564	T	0.24547	0.0595	M	0.68593	2.085	0.31479	N	0.667422	D	0.54772	0.968	B	0.40565	0.333	T	0.13229	-1.0517	10	0.72032	D	0.01	-19.7295	10.6953	0.45894	0.2678:0.6031:0.1291:0.0	.	298	Q8N3Z0	PRS35_HUMAN	M	298	ENSP00000440870:T298M;ENSP00000358714:T298M	ENSP00000358714:T298M	T	+	2	0	PRSS35	84290772	0.447000	0.25673	0.028000	0.17463	0.481000	0.33189	4.473000	0.60196	0.777000	0.33496	0.462000	0.41574	ACG		0.483	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		35	65	0	0	0	1	0	35	65				
CEACAM7	1087	broad.mit.edu	37	19	42190886	42190886	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:42190886G>C	ENST00000006724.3	-	2	532	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	CEACAM7_ENST00000401731.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000602225.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.Q111E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	111	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTGACGTTCTGGATCAGCAGG	0.413																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(331-333)Cag>Gag		carcinoembryonic antigen-related cell adhesion molecule 7							203.0	204.0	204.0					19																	42190886		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190886G>C	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.331C>G	19.37:g.42190886G>C	ENSP00000006724:p.Gln111Glu					CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000602225.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.Q111E	p.Q111E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	532	-			111			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.331C>G	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978985	0.18812	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.67345	-0.26;-0.26;-0.26	1.68	1.68	0.24146	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79575	0.4469	M	0.87900	2.915	0.09310	N	1	P;P	0.51057	0.941;0.922	P;D	0.63283	0.751;0.913	T	0.65561	-0.6138	9	0.66056	D	0.02	.	6.8117	0.23809	0.0:0.0:1.0:0.0	.	111;111	Q14002-2;Q14002	.;CEAM7_HUMAN	E	111;90;111;111	ENSP00000006724:Q111E;ENSP00000385932:Q111E;ENSP00000343286:Q111E	ENSP00000006724:Q111E	Q	-	1	0	CEACAM7	46882726	0.229000	0.23729	0.019000	0.16419	0.015000	0.08874	3.107000	0.50329	1.235000	0.43724	0.313000	0.20887	CAG		0.413	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		5	303	0	0	0	1	0	5	303				
ARFGEF2	10564	broad.mit.edu	37	20	47602086	47602086	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:47602086G>A	ENST00000371917.4	+	16	2212	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	738	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTACCTGGAGAAGCCCAAAA	0.478																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2212-2214)Gaa>Aaa		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							102.0	89.0	93.0					20																	47602086		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47602086G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2212G>A	20.37:g.47602086G>A	ENSP00000360985:p.Glu738Lys						p.E738K	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		16	2212	+			738			SEC7.		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2212G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	37	6.043808	0.97231	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.73363	-0.74	6.03	6.03	0.97812	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95717	0.8763	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	738	Q9Y6D5	BIG2_HUMAN	K	738	ENSP00000360985:E738K	ENSP00000360985:E738K	E	+	1	0	ARFGEF2	47035493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAA		0.478	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		7	83	0	0	0	1	0	7	83				
CHRNA9	55584	broad.mit.edu	37	4	40351154	40351154	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:40351154C>T	ENST00000310169.2	+	4	760	c.621C>T	c.(619-621)ggC>ggT	p.G207G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	207					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGGTCCATGGCATGCCCGCTG	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(619-621)ggC>ggT		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						234.0	206.0	215.0					4																	40351154		2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351154C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.621C>T	4.37:g.40351154C>T							p.G207G	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	760	+			207					Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.621C>T	CCDS3459.1																																																																																				0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			32	271	0	0	0	1	0	32	271				
CLPB	81570	broad.mit.edu	37	11	72012910	72012910	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:72012910G>C	ENST00000294053.3	-	12	1529	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	CLPB_ENST00000538039.1_Silent_p.L422L|CLPB_ENST00000437826.2_Silent_p.L407L|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000538021.1_Silent_p.L60L|CLPB_ENST00000543042.1_Silent_p.L251L|CLPB_ENST00000340729.5_Silent_p.L393L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	452					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTTCATCAAAGAGCACCACAG	0.562																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1354-1356)ctC>ctG		ClpB caseinolytic peptidase B homolog (E. coli)							191.0	162.0	172.0					11																	72012910		2200	4293	6493	SO:0001819	synonymous_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72012910G>C	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1356C>G	11.37:g.72012910G>C						CLPB_ENST00000340729.5_Silent_p.L393L|CLPB_ENST00000543042.1_Silent_p.L251L|CLPB_ENST00000538039.1_Silent_p.L422L|CLPB_ENST00000538021.1_Silent_p.L60L|CLPB_ENST00000437826.2_Silent_p.L407L	p.L452L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			12	1529	-			452					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	c.1356C>G	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908814	0.17833	.	.	ENSG00000162129	ENST00000544382	.	.	.	5.63	3.75	0.43078	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51764	-0.8664	4	.	.	.	-16.6941	5.7592	0.18190	0.2246:0.1448:0.6306:0.0	.	.	.	.	C	230	.	.	S	-	2	0	CLPB	71690558	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.238000	0.58688	1.390000	0.46547	-0.136000	0.14681	TCT		0.562	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		5	143	0	0	0	1	0	5	143				
RNF6	6049	broad.mit.edu	37	13	26788500	26788500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:26788500G>A	ENST00000381588.4	-	5	2271	c.1519C>T	c.(1519-1521)Caa>Taa	p.Q507*	RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q151*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q507*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	507					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCATTTCTTTGAAGTTCTGAC	0.463																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1519-1521)Caa>Taa		ring finger protein (C3H2C3 type) 6							75.0	71.0	72.0					13																	26788500		2203	4300	6503	SO:0001587	stop_gained	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788500G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1519C>T	13.37:g.26788500G>A	ENSP00000371000:p.Gln507*					RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q151*	p.Q507*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2271	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	507					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	ENST00000381588.4	37	c.1519C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487558	0.96323	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	.	.	.	4.86	4.01	0.46588	.	0.358095	0.27397	N	0.019544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-6.8742	15.0146	0.71573	0.0:0.1597:0.8403:0.0	.	.	.	.	X	507;507;507;151	.	ENSP00000342121:Q507X	Q	-	1	0	RNF6	25686500	.	.	0.637000	0.29366	0.864000	0.49448	.	.	1.396000	0.46663	0.557000	0.71058	CAA		0.463	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		5	92	0	0	0	1	0	5	92				
CABIN1	23523	broad.mit.edu	37	22	24567822	24567822	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:24567822C>T	ENST00000398319.2	+	34	6284	c.5899C>T	c.(5899-5901)Cgc>Tgc	p.R1967C	CABIN1_ENST00000337989.7_Missense_Mutation_p.R392C|CABIN1_ENST00000405822.2_Missense_Mutation_p.R1888C|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1967C|CABIN1_ENST00000485008.1_3'UTR	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1967					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R1967C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACCAAGCCTCGCCCTGCACT	0.627																																						ENST00000398319.2																			1	Substitution - Missense(1)	p.R1967C(1)	skin(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5899-5901)Cgc>Tgc		calcineurin binding protein 1							114.0	103.0	107.0					22																	24567822		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24567822C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5899C>T	22.37:g.24567822C>T	ENSP00000381364:p.Arg1967Cys					CABIN1_ENST00000405822.2_Missense_Mutation_p.R1888C|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.R392C|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1967C	p.R1967C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			34	6284	+			1967					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.5899C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385685	0.61956	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.53	3.41	0.39046	.	0.639293	0.16429	N	0.214802	T	0.11665	0.0284	N	0.08118	0	0.39503	D	0.968226	D;D	0.60160	0.987;0.974	B;B	0.43783	0.431;0.249	T	0.04811	-1.0925	10	0.62326	D	0.03	.	9.3091	0.37893	0.3265:0.6734:0.0:0.0	.	1888;1967	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	C	1967;1888;1967;392;391	ENSP00000263119:R1967C;ENSP00000384694:R1888C;ENSP00000381364:R1967C;ENSP00000336991:R392C	ENSP00000263119:R1967C	R	+	1	0	CABIN1	22897822	0.104000	0.21937	1.000000	0.80357	0.748000	0.42578	0.954000	0.29175	2.466000	0.83321	0.650000	0.86243	CGC		0.627	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		10	79	0	0	0	1	0	10	79				
CEP89	84902	broad.mit.edu	37	19	33444555	33444555	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:33444555C>A	ENST00000305768.5	-	4	546	c.458G>T	c.(457-459)aGt>aTt	p.S153I	CEP89_ENST00000590597.2_Missense_Mutation_p.S153I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	153					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAGGTCATCACTGTGGCCTCC	0.488																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(457-459)aGt>aTt		centrosomal protein 89kDa							408.0	434.0	425.0					19																	33444555		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33444555C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.458G>T	19.37:g.33444555C>A	ENSP00000306105:p.Ser153Ile					CEP89_ENST00000590597.1_Missense_Mutation_p.S153I	p.S153I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	546	-			153					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.458G>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304486	0.23736	.	.	ENSG00000121289	ENST00000305768	T	0.32515	1.45	5.12	-0.0885	0.13673	.	3.796690	0.00695	N	0.000748	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	D;B;B	0.54601	0.967;0.062;0.432	P;B;B	0.49085	0.6;0.045;0.205	T	0.17471	-1.0368	10	0.37606	T	0.19	7.6155	6.3435	0.21337	0.0:0.4481:0.0:0.5519	.	124;153;153	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	I	153	ENSP00000306105:S153I	ENSP00000306105:S153I	S	-	2	0	CEP89	38136395	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.099000	0.15210	0.223000	0.20920	0.591000	0.81541	AGT		0.488	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		9	591	1	0	1.2644e-06	1	1.36038e-06	9	591				
APC	324	broad.mit.edu	37	5	112103071	112103071	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:112103071G>A	ENST00000457016.1	+	4	786	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	APC_ENST00000508376.2_Missense_Mutation_p.E136K|APC_ENST00000257430.4_Missense_Mutation_p.E136K			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E136K(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATTTAGAAGAACTTGAGAA	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Substitution - Missense(1)	p.E136K(1)	large_intestine(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(406-408)Gaa>Aaa		adenomatous polyposis coli							78.0	78.0	78.0					5																	112103071		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112103071G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.406G>A	5.37:g.112103071G>A	ENSP00000413133:p.Glu136Lys	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.E136K|APC_ENST00000257430.4_Missense_Mutation_p.E136K	p.E136K			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	4	786	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	136			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.406G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142195	0.94560	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	L	0.42245	1.32	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.978	D	0.93357	0.6723	9	.	.	.	-21.5101	19.2099	0.93749	0.0:0.0:1.0:0.0	.	138;136	Q4LE70;P25054	.;APC_HUMAN	K	136;146;136;136;136	ENSP00000413133:E136K;ENSP00000423224:E146K;ENSP00000257430:E136K;ENSP00000427089:E136K;ENSP00000423828:E136K	.	E	+	1	0	APC	112130970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.547000	0.85894	0.585000	0.79938	GAA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		10	70	0	0	0	1	0	10	70				
KRIT1	889	broad.mit.edu	37	7	91852190	91852190	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:91852190G>C	ENST00000340022.2	-	13	2375	c.1357C>G	c.(1357-1359)Ctc>Gtc	p.L453V	KRIT1_ENST00000412043.2_Missense_Mutation_p.L453V|KRIT1_ENST00000394507.1_Missense_Mutation_p.L453V|KRIT1_ENST00000394505.2_Missense_Mutation_p.L453V|KRIT1_ENST00000394503.2_Missense_Mutation_p.L405V	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	453	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTTGAGAGAGACGCATTCCT	0.333																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(1357-1359)Ctc>Gtc		KRIT1, ankyrin repeat containing							112.0	98.0	103.0					7																	91852190		2203	4299	6502	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91852190G>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1357C>G	7.37:g.91852190G>C	ENSP00000344668:p.Leu453Val					KRIT1_ENST00000394503.2_Missense_Mutation_p.L405V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L453V|KRIT1_ENST00000340022.2_Missense_Mutation_p.L453V|KRIT1_ENST00000394505.2_Missense_Mutation_p.L453V	p.L453V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		14	2140	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		453			FERM.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1357C>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817594	0.70912	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.76709	0.56;0.56;0.56;0.56;-1.04	5.26	5.26	0.73747	Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000001	D	0.84982	0.5593	L	0.61218	1.895	0.80722	D	1	D;D;D	0.60575	0.982;0.988;0.982	D;P;D	0.67548	0.952;0.6;0.952	D	0.84785	0.0775	10	0.45353	T	0.12	3.4168	14.1869	0.65612	0.0744:0.0:0.9256:0.0	.	453;405;453	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	V	453;453;453;453;405;453	ENSP00000378015:L453V;ENSP00000344668:L453V;ENSP00000410909:L453V;ENSP00000378013:L453V;ENSP00000378011:L405V	ENSP00000344668:L453V	L	-	1	0	KRIT1	91690126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.799000	0.62517	2.448000	0.82819	0.460000	0.39030	CTC		0.333	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			9	79	0	0	0	1	0	9	79				
PCDH11X	27328	broad.mit.edu	37	X	91134144	91134144	+	Missense_Mutation	SNP	G	G	C	rs369448138		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:91134144G>C	ENST00000373094.1	+	2	3750	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D969H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	969					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						ACTGCCTCTCGATAACACCTT	0.512																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				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						c.(2905-2907)Gat>Cat		protocadherin 11 X-linked							263.0	209.0	227.0					X																	91134144		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134144G>C	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.2905G>C	X.37:g.91134144G>C	ENSP00000362186:p.Asp969His					PCDH11X_ENST00000373088.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D969H	p.D969H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3750	+			969					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2905G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972216	0.34754	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.35	5.35	0.76521	Protocadherin (1);	0.104496	0.64402	D	0.000006	T	0.60869	0.2302	M	0.70275	2.135	0.47698	D	0.99949	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.64521	-0.6388	10	0.66056	D	0.02	.	16.9575	0.86263	0.0:0.0:1.0:0.0	.	969;969;969;969;969;969;969;969	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	969	ENSP00000378746:D969H;ENSP00000362186:D969H;ENSP00000362189:D969H;ENSP00000355040:D969H;ENSP00000362180:D969H;ENSP00000423762:D969H;ENSP00000355105:D969H;ENSP00000384758:D969H;ENSP00000298274:D969H	ENSP00000298274:D969H	D	+	1	0	PCDH11X	91020800	1.000000	0.71417	0.976000	0.42696	0.161000	0.22273	9.114000	0.94329	2.211000	0.71520	0.600000	0.82982	GAT		0.512	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		18	250	0	0	0	1	0	18	250				
ZNF765	91661	broad.mit.edu	37	19	53912379	53912379	+	Nonstop_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53912379A>T	ENST00000396408.3	+	4	1688	c.1571A>T	c.(1570-1572)tAa>tTa	p.*524L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CTACACGTGTAATGAGTGTGG	0.378																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1570-1572)tAa>tTa		zinc finger protein 765							28.0	30.0	29.0					19																	53912379		2174	4289	6463	SO:0001578	stop_lost	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912379A>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1571A>T	19.37:g.53912379A>T	ENSP00000379689:p.*524Leuext*1					ZNF765_ENST00000594030.1_Intron	p.*524L	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1688	+			0					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Nonstop_Mutation	SNP	ENST00000396408.3	37	c.1571A>T	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	0.642	-0.813085	0.02798	.	.	ENSG00000196417	ENST00000396408	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5786	0.12248	0.7153:0.0:0.0:0.2847	.	.	.	.	L	524	.	.	X	+	2	2	ZNF765	58604191	0.000000	0.05858	0.020000	0.16555	0.022000	0.10575	-3.306000	0.00518	0.545000	0.28902	0.247000	0.18012	TAA		0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		5	51	0	0	0	1	0	5	51				
ARID4B	51742	broad.mit.edu	37	1	235377235	235377235	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:235377235C>G	ENST00000264183.3	-	17	2187	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.E564Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	564	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCAAACTCCTCTTCCTCATTG	0.403																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1690-1692)Gag>Cag		AT rich interactive domain 4B (RBP1-like)							265.0	257.0	260.0					1																	235377235		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377235C>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1690G>C	1.37:g.235377235C>G	ENSP00000264183:p.Glu564Gln					ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.E564Q	p.E564Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2187	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	564			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1690G>C	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584468	0.65992	.	.	ENSG00000054267	ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	T;T	0.44881	0.91;0.91	5.62	4.69	0.59074	Chromo domain-like (1);Chromo domain/shadow (1);	0.070929	0.53938	N	0.000054	T	0.28300	0.0699	N	0.14661	0.345	0.48632	D	0.999683	P;B	0.46784	0.884;0.379	B;B	0.38327	0.271;0.122	T	0.17198	-1.0377	10	0.66056	D	0.02	-11.052	16.4844	0.84180	0.0:0.8687:0.1313:0.0	.	245;564	Q4LE39-4;Q4LE39	.;ARI4B_HUMAN	Q	564	ENSP00000355562:E564Q;ENSP00000264183:E564Q	ENSP00000264183:E564Q	E	-	1	0	ARID4B	233443858	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.006000	0.70724	1.353000	0.45828	0.644000	0.83932	GAG		0.403	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		5	231	0	0	0	1	0	5	231				
FAM83D	81610	broad.mit.edu	37	20	37580732	37580732	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:37580732C>G	ENST00000217429.4	+	4	1458	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	443	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q473*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACCACTACTCAGACTGACAT	0.468																																						ENST00000217429.4																			1	Substitution - Nonsense(1)	p.Q473*(1)	kidney(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1417-1419)Cag>Gag		family with sequence similarity 83, member D							117.0	115.0	116.0					20																	37580732		2101	4215	6316	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580732C>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1417C>G	20.37:g.37580732C>G	ENSP00000217429:p.Gln473Glu						p.Q473E	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1458	+		Myeloproliferative disorder(115;0.00878)	443			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1417C>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152814	0.57259	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.21361	2.01	5.49	5.49	0.81192	.	1.575260	0.03233	N	0.179266	T	0.56277	0.1974	M	0.74881	2.28	0.44201	D	0.997021	D	0.64830	0.994	D	0.70716	0.97	T	0.31081	-0.9956	10	0.87932	D	0	.	19.3536	0.94401	0.0:1.0:0.0:0.0	.	443	Q9H4H8	FA83D_HUMAN	E	473;427	ENSP00000217429:Q473E	ENSP00000217429:Q473E	Q	+	1	0	FAM83D	37014146	0.998000	0.40836	1.000000	0.80357	0.340000	0.28889	4.021000	0.57196	2.733000	0.93635	0.655000	0.94253	CAG		0.468	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			7	123	0	0	0	1	0	7	123				
ADAMTS12	81792	broad.mit.edu	37	5	33576576	33576576	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:33576576A>T	ENST00000504830.1	-	19	3890	c.3555T>A	c.(3553-3555)aaT>aaA	p.N1185K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N1100K|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1185	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGAGCGTCATTTCCAGGTA	0.488										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3553-3555)aaT>aaA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							206.0	186.0	193.0					5																	33576576		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576576A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3555T>A	5.37:g.33576576A>T	ENSP00000422554:p.Asn1185Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N1100K	p.N1185K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3890	-			1185			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3555T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.281833	0.00251	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57752	0.38;0.39	5.28	-0.136	0.13473	.	0.887861	0.09939	N	0.736206	T	0.30978	0.0782	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.26326	-1.0106	10	0.06365	T	0.9	.	6.5013	0.22170	0.4824:0.3859:0.1317:0.0	.	1100;1185	P58397-3;P58397	.;ATS12_HUMAN	K	1185;1100	ENSP00000422554:N1185K;ENSP00000344847:N1100K	ENSP00000344847:N1100K	N	-	3	2	ADAMTS12	33612333	0.000000	0.05858	0.007000	0.13788	0.020000	0.10135	-0.137000	0.10389	0.082000	0.17018	-0.313000	0.08912	AAT		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		39	143	0	0	0	1	0	39	143				
WBSCR17	64409	broad.mit.edu	37	7	71130575	71130575	+	Silent	SNP	G	G	A	rs575395276		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:71130575G>A	ENST00000333538.5	+	7	1894	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	420					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P420P(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAACCTGCCGCTGGAGGTAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.001					ENST00000333538.5																			2	Substitution - coding silent(2)	p.P420P(2)	large_intestine(1)|endometrium(1)	NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1258-1260)ccG>ccA		Williams-Beuren syndrome chromosome region 17							72.0	59.0	64.0					7																	71130575		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130575G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1260G>A	7.37:g.71130575G>A						WBSCR17_ENST00000498380.2_3'UTR	p.P420P	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			7	1894	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	420					Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1260G>A	CCDS5540.1																																																																																				0.478	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		10	51	0	0	0	1	0	10	51				
CLPX	10845	broad.mit.edu	37	15	65456381	65456381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:65456381G>C	ENST00000300107.3	-	5	847	c.659C>G	c.(658-660)tCa>tGa	p.S220*		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	220					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TGGTGTTAATGATGTCTGCTT	0.333																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(658-660)tCa>tGa		caseinolytic mitochondrial matrix peptidase chaperone subunit							153.0	154.0	154.0					15																	65456381		2202	4299	6501	SO:0001587	stop_gained	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65456381G>C	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.659C>G	15.37:g.65456381G>C	ENSP00000300107:p.Ser220*						p.S220*	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			5	847	-			220					A1L428|A8K8F1|B9EGI8|Q9H4D9	Nonsense_Mutation	SNP	ENST00000300107.3	37	c.659C>G	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	38	6.883280	0.97908	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	.	.	.	6.06	6.06	0.98353	.	0.055884	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000300107:S220X	S	-	2	0	CLPX	63243434	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.058000	0.89460	2.880000	0.98712	0.650000	0.86243	TCA		0.333	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		20	173	0	0	0	1	0	20	173				
SLC7A6	9057	broad.mit.edu	37	16	68328673	68328673	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:68328673G>A	ENST00000566454.1	+	9	1357	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.R363H	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CACATTGAGCGTTTTACACCT	0.507																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(1087-1089)cGt>cAt		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							242.0	215.0	224.0					16																	68328673		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68328673G>A	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1088G>A	16.37:g.68328673G>A	ENSP00000455064:p.Arg363His					SLC7A6_ENST00000219343.6_Missense_Mutation_p.R363H	p.R363H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	9	1357	+		Ovarian(137;0.0563)	363						Missense_Mutation	SNP	ENST00000566454.1	37	c.1088G>A	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886902	0.91814	.	.	ENSG00000103064	ENST00000219343	D	0.89415	-2.51	5.2	5.2	0.72013	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.69463	2.115	0.80722	D	1	P	0.47677	0.899	B	0.40444	0.329	D	0.88727	0.3234	10	0.46703	T	0.11	.	16.5821	0.84717	0.0:0.0:1.0:0.0	.	363	Q92536	YLAT2_HUMAN	H	363	ENSP00000219343:R363H	ENSP00000219343:R363H	R	+	2	0	SLC7A6	66886174	1.000000	0.71417	0.993000	0.49108	0.867000	0.49689	9.526000	0.98042	2.600000	0.87896	0.561000	0.74099	CGT		0.507	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		15	169	0	0	0	1	0	15	169				
DNAH5	1767	broad.mit.edu	37	5	13751222	13751222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:13751222G>A	ENST00000265104.4	-	65	11280	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3726	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11176-11178)Cag>Tag		dynein, axonemal, heavy chain 5							152.0	140.0	144.0					5																	13751222		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13751222G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11176C>T	5.37:g.13751222G>A	ENSP00000265104:p.Gln3726*						p.Q3726*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			65	11280	-	Lung NSC(4;0.00476)		3726			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.11176C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	53	21.053339	0.99936	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	.	.	.	X	3726	.	ENSP00000265104:Q3726X	Q	-	1	0	DNAH5	13804222	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	9.288000	0.96055	2.712000	0.92718	0.650000	0.86243	CAG		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	102	0	0	0	1	0	10	102				
DMXL2	23312	broad.mit.edu	37	15	51828991	51828991	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:51828991G>A	ENST00000251076.5	-	12	1973	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	DMXL2_ENST00000449909.3_Silent_p.I562I|DMXL2_ENST00000543779.2_Silent_p.I562I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	562						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATACATCATGATATTTTTAC	0.418																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(1684-1686)atC>atT		Dmx-like 2							97.0	87.0	90.0					15																	51828991		2195	4293	6488	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51828991G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1686C>T	15.37:g.51828991G>A						DMXL2_ENST00000449909.3_Silent_p.I562I|DMXL2_ENST00000543779.2_Silent_p.I562I	p.I562I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	12	1973	-			562					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.1686C>T	CCDS10141.1																																																																																				0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		14	71	0	0	0	1	0	14	71				
DSEL	92126	broad.mit.edu	37	18	65181440	65181440	+	Missense_Mutation	SNP	G	G	T	rs374886894		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:65181440G>T	ENST00000310045.7	-	2	1909	c.436C>A	c.(436-438)Cca>Aca	p.P146T	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	136					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTGTCTTCTGGGCATAACAAA	0.423																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(436-438)Cca>Aca		dermatan sulfate epimerase-like		G	THR/PRO	1,4405	2.1+/-5.4	0,1,2202	94.0	88.0	90.0		436	4.6	0.3	18		90	0,8600		0,0,4300	no	missense	DSEL	NM_032160.2	38	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	146/1223	65181440	1,13005	2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181440G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.436C>A	18.37:g.65181440G>T	ENSP00000310565:p.Pro146Thr						p.P146T	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	1909	-		Esophageal squamous(42;0.129)	136					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.436C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285373	0.80803	2.27E-4	0.0	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22743	1.94	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	T	0.48429	0.1499	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.53158	-0.8478	10	0.62326	D	0.03	-10.3328	17.825	0.88662	0.0:0.0:1.0:0.0	.	136	Q8IZU8	DSEL_HUMAN	T	146;136	ENSP00000310565:P146T	ENSP00000310565:P146T	P	-	1	0	DSEL	63332420	1.000000	0.71417	0.297000	0.24988	0.996000	0.88848	9.568000	0.98166	2.287000	0.76781	0.561000	0.74099	CCA		0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		20	74	1	0	6.33239e-15	1	7.11848e-15	20	74				
ZSCAN4	201516	broad.mit.edu	37	19	58189695	58189695	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:58189695A>G	ENST00000318203.5	+	5	1421	c.724A>G	c.(724-726)Aac>Gac	p.N242D		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	242					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACCCATACAACTCAAAAAG	0.448																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(724-726)Aac>Gac		zinc finger and SCAN domain containing 4							79.0	73.0	75.0					19																	58189695		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189695A>G	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.724A>G	19.37:g.58189695A>G	ENSP00000321963:p.Asn242Asp						p.N242D	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1421	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	242					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.724A>G	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	A	2.614	-0.290202	0.05568	.	.	ENSG00000180532	ENST00000318203	T	0.06687	3.27	3.58	1.37	0.22104	.	1.586570	0.03401	N	0.203331	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B	0.33694	0.421	B	0.30646	0.118	T	0.34976	-0.9807	10	0.12766	T	0.61	0.0178	4.1459	0.10215	0.5759:0.2161:0.0:0.2079	.	242	Q8NAM6	ZSCA4_HUMAN	D	242	ENSP00000321963:N242D	ENSP00000321963:N242D	N	+	1	0	ZSCAN4	62881507	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.436000	0.21526	0.209000	0.20645	0.533000	0.62120	AAC		0.448	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		16	73	0	0	0	1	0	16	73				
HSP90AA1	3320	broad.mit.edu	37	14	102552130	102552130	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:102552130G>A	ENST00000216281.8	-	3	699	c.494C>T	c.(493-495)tCa>tTa	p.S165L	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.S287L|HSP90AA1_ENST00000441629.2_Intron	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	165					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCCCCCTGCTGAGGACTCCCA	0.502																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(859-861)tCa>tTa		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						79.0	80.0	80.0					14																	102552130		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552130G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.494C>T	14.37:g.102552130G>A	ENSP00000216281:p.Ser165Leu					HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S165L	p.S287L	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			4	1141	-			165					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.860C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502785	0.64298	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.19669	2.13;2.13	3.99	3.99	0.46301	ATPase-like, ATP-binding domain (4);	0.074781	0.56097	U	0.000037	T	0.41236	0.1150	H	0.96748	3.875	0.80722	D	1	P;B	0.45348	0.856;0.256	B;B	0.38616	0.277;0.109	T	0.68379	-0.5424	10	0.87932	D	0	.	16.4396	0.83895	0.0:0.0:1.0:0.0	.	287;165	P07900-2;P07900	.;HS90A_HUMAN	L	165;287	ENSP00000216281:S165L;ENSP00000335153:S287L	ENSP00000216281:S165L	S	-	2	0	HSP90AA1	101621883	1.000000	0.71417	0.267000	0.24556	0.517000	0.34286	9.545000	0.98095	1.950000	0.56595	0.650000	0.86243	TCA		0.502	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		14	92	0	0	0	1	0	14	92				
SYCP2	10388	broad.mit.edu	37	20	58467456	58467456	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:58467456A>G	ENST00000357552.3	-	24	2178	c.1953T>C	c.(1951-1953)acT>acC	p.T651T	SYCP2_ENST00000371001.2_Silent_p.T651T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	651					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTTGTTTAGTAAGTTTTT	0.229																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1951-1953)acT>acC		synaptonemal complex protein 2							33.0	33.0	33.0					20																	58467456		2195	4281	6476	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467456A>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1953T>C	20.37:g.58467456A>G						SYCP2_ENST00000371001.2_Silent_p.T651T	p.T651T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2178	-	all_lung(29;0.00344)		651					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.1953T>C	CCDS13482.1																																																																																				0.229	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	45	0	0	0	1	0	10	45				
CDH10	1008	broad.mit.edu	37	5	24593382	24593382	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:24593382T>A	ENST00000264463.4	-	2	725	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCCTACGTACTGATAATCAGA	0.348										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(217-219)cAg>cTg		cadherin 10, type 2 (T2-cadherin)							118.0	119.0	118.0					5																	24593382		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593382T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.218A>T	5.37:g.24593382T>A	ENSP00000264463:p.Gln73Leu	HNSCC(23;0.051)				RP11-116O11.1_ENST00000510391.1_RNA	p.Q73L	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	725	-			73			Cadherin 1.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.218A>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	9.616	1.132568	0.21041	.	.	ENSG00000040731	ENST00000264463	T	0.00540	6.7	4.37	4.37	0.52481	Cadherin (1);Cadherin-like (1);	0.131930	0.51477	D	0.000088	T	0.00384	0.0012	N	0.20807	0.61	0.47441	D	0.999423	B	0.27656	0.184	B	0.29077	0.098	T	0.55302	-0.8162	10	0.02654	T	1	.	13.0811	0.59114	0.0:0.0:0.0:1.0	.	73	Q9Y6N8	CAD10_HUMAN	L	73	ENSP00000264463:Q73L	ENSP00000264463:Q73L	Q	-	2	0	CDH10	24629139	1.000000	0.71417	0.985000	0.45067	0.772000	0.43724	5.381000	0.66208	1.742000	0.51746	0.477000	0.44152	CAG		0.348	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		16	127	0	0	0	1	0	16	127				
AKAP8L	26993	broad.mit.edu	37	19	15514430	15514430	+	Missense_Mutation	SNP	C	C	T	rs541815464		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:15514430C>T	ENST00000397410.5	-	4	348	c.218G>A	c.(217-219)aGc>aAc	p.S73N	AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	73						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTGTCAGAGCTAGGCATTTC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21403	0.0		0.0	False		,,,				2504	0.0					ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(217-219)aGc>aAc		A kinase (PRKA) anchor protein 8-like							95.0	97.0	97.0					19																	15514430		2091	4217	6308	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514430C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.218G>A	19.37:g.15514430C>T	ENSP00000380557:p.Ser73Asn					AKAP8L_ENST00000595465.1_Intron|AKAP8L_ENST00000595136.1_Intron	p.S73N	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			4	282	-			73					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.218G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464985	0.26335	.	.	ENSG00000011243	ENST00000397410	T	0.44881	0.91	5.33	1.48	0.22813	.	0.714902	0.14692	N	0.304126	T	0.22936	0.0554	N	0.19112	0.55	0.31818	N	0.626373	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28004	-1.0057	10	0.13853	T	0.58	-12.2633	7.8622	0.29516	0.0:0.6432:0.0:0.3568	.	73;73	B3KMD4;Q9ULX6	.;AKP8L_HUMAN	N	73	ENSP00000380557:S73N	ENSP00000380557:S73N	S	-	2	0	AKAP8L	15375430	0.767000	0.28508	0.999000	0.59377	0.998000	0.95712	-0.137000	0.10389	0.610000	0.30035	0.561000	0.74099	AGC		0.512	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		9	57	0	0	0	1	0	9	57				
DMXL2	23312	broad.mit.edu	37	15	51806687	51806687	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:51806687C>T	ENST00000251076.5	-	15	2883	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	DMXL2_ENST00000449909.3_Missense_Mutation_p.E866K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E866K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	866						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCATATCTTCCTTATGTGGT	0.303																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(2596-2598)Gaa>Aaa		Dmx-like 2							173.0	166.0	168.0					15																	51806687		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51806687C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2596G>A	15.37:g.51806687C>T	ENSP00000251076:p.Glu866Lys					DMXL2_ENST00000449909.3_Missense_Mutation_p.E866K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E866K	p.E866K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	15	2883	-			866					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.2596G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336221	0.24253	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.29397	1.57;1.57;1.57	4.97	3.05	0.35203	.	0.148616	0.64402	D	0.000014	T	0.20941	0.0504	L	0.33485	1.01	0.23050	N	0.998376	B;B;B	0.23650	0.0;0.089;0.0	B;B;B	0.24848	0.006;0.056;0.001	T	0.18618	-1.0331	10	0.10636	T	0.68	.	12.0633	0.53574	0.0:0.8514:0.0:0.1486	.	866;866;866	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	K	866	ENSP00000251076:E866K;ENSP00000441858:E866K;ENSP00000400855:E866K	ENSP00000251076:E866K	E	-	1	0	DMXL2	49593979	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	5.159000	0.64923	1.238000	0.43771	0.591000	0.81541	GAA		0.303	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		12	79	0	0	0	1	0	12	79				
KSR2	283455	broad.mit.edu	37	12	117962953	117962953	+	Silent	SNP	C	C	T	rs377379360		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:117962953C>T	ENST00000339824.5	-	14	2650	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	KSR2_ENST00000425217.1_Silent_p.S612S|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.S338S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	641					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTCCGGGCCGAGAGGAGGG	0.582																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1834-1836)tcG>tcA		kinase suppressor of ras 2		C		0,4248		0,0,2124	63.0	68.0	66.0		1836	-3.8	1.0	12		66	1,8499		0,1,4249	no	coding-synonymous	KSR2	NM_173598.4		0,1,6373	TT,TC,CC		0.0118,0.0,0.0078		612/922	117962953	1,12747	2124	4250	6374	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962953C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1923G>A	12.37:g.117962953C>T						KSR2_ENST00000302438.5_Silent_p.S338S|KSR2_ENST00000339824.5_Silent_p.S641S|KSR2_ENST00000545002.1_5'UTR	p.S612S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			14	1890	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		641					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1836G>A																																																																																					0.582	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		10	49	0	0	0	1	0	10	49				
ADAM22	53616	broad.mit.edu	37	7	87746076	87746076	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:87746076A>C	ENST00000265727.7	+	7	633	c.554A>C	c.(553-555)cAt>cCt	p.H185P	ADAM22_ENST00000398204.4_Missense_Mutation_p.H185P|ADAM22_ENST00000315984.7_Missense_Mutation_p.H185P|ADAM22_ENST00000398209.3_Missense_Mutation_p.H185P|ADAM22_ENST00000398201.4_Missense_Mutation_p.H185P|ADAM22_ENST00000439864.1_Missense_Mutation_p.H185P			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	185					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCATTTTCATTCAGTTTAC	0.363																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(553-555)cAt>cCt		ADAM metallopeptidase domain 22							208.0	195.0	199.0					7																	87746076		1880	4113	5993	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87746076A>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.554A>C	7.37:g.87746076A>C	ENSP00000265727:p.His185Pro					ADAM22_ENST00000439864.1_Missense_Mutation_p.H185P|ADAM22_ENST00000398201.4_Missense_Mutation_p.H185P|ADAM22_ENST00000265727.7_Missense_Mutation_p.H185P|ADAM22_ENST00000398209.3_Missense_Mutation_p.H185P|ADAM22_ENST00000315984.7_Missense_Mutation_p.H185P	p.H185P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	877	+	Esophageal squamous(14;0.00202)		185					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.554A>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918112	0.73098	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.93	5.93	0.95920	Peptidase M12B, propeptide (1);	0.100752	0.64402	D	0.000002	T	0.44052	0.1275	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999;0.999	D;D;D;D;D;D	0.81914	0.986;0.976;0.986;0.964;0.995;0.985	T	0.51442	-0.8705	10	0.87932	D	0	.	13.903	0.63817	1.0:0.0:0.0:0.0	.	237;185;185;185;185;185	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	P	185;185;185;185;185;185;152	ENSP00000381262:H185P;ENSP00000391334:H185P;ENSP00000381260:H185P;ENSP00000265727:H185P;ENSP00000315900:H185P;ENSP00000381267:H185P;ENSP00000381261:H152P	ENSP00000265727:H185P	H	+	2	0	ADAM22	87584012	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.293000	0.65680	2.271000	0.75665	0.533000	0.62120	CAT		0.363	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		9	55	0	0	0	1	0	9	55				
XIRP2	129446	broad.mit.edu	37	2	168104863	168104864	+	Frame_Shift_Ins	INS	-	-	A	rs537427618|rs553644411		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:168104863_168104864insA	ENST00000409195.1	+	9	7050_7051	c.6961_6962insA	c.(6961-6963)gaafs	p.E2321fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.E2099fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.E2321fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2146					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTTCCTGAAAAAAATGGG	0.465																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6961-6963)aaafs		xin actin-binding repeat containing 2			,,,,	9,3627		0,9,1809					,,,,	5.1	1.0			119	15,7863		0,15,3924	no	frameshift,intron,frameshift,intron,intron	XIRP2	NM_152381.5,NM_001199145.1,NM_001199144.1,NM_001199143.1,NM_001079810.3	,,,,	0,24,5733	A1A1,A1R,RR		0.1904,0.2475,0.2084	,,,,	,,,,		24,11490				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104863_168104864insA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6968dupA	2.37:g.168104870_168104870dupA	ENSP00000386840:p.Glu2321fs					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K2099fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K2321fs|XIRP2_ENST00000409756.2_Intron	p.K2321fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7050_7051	+			2146					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.6961_6962insA	CCDS42769.1																																																																																				0.465	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	152						17	152	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102503435	102503436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:102503435_102503436insT	ENST00000421544.1	+	15	3032_3033	c.2542_2543insT	c.(2542-2544)aaafs	p.K848fs	GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K799fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	848					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAAATCCAAAAAAAACGCTCAA	0.342																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2542-2544)aaafs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503435_102503436insT		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	Exception_encountered	6.37:g.102503435_102503436insT	ENSP00000397026:p.Lys848fs					GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K799fs	p.K848fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3032_3033	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	848					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	ENST00000421544.1	37	c.2542_2543insT	CCDS5048.1																																																																																				0.342	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			19	168						19	168	---	---	---	---
RP11-340I6.7	0	broad.mit.edu	37	7	63351248	63351250	+	lincRNA	DEL	GAG	GAG	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:63351248_63351250delGAG	ENST00000587736.1	-	0	688																											GAGATGGGGAGAGGAGGAGGAGG	0.581																																						ENST00000587736.1																			0																																																			0							g.chr7:63351248_63351250delGAG																													7.37:g.63351257_63351259delGAG														0	688	-									RNA	DEL	ENST00000587736.1	37																																																																																						0.581	RP11-340I6.7-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447757.1			2	4						2	4	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:117797539delG	ENST00000350763.4	-	22	6142	c.5731delC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5731-5733)ggfs		tenascin C							81.0	83.0	82.0					9																	117797539		2203	4300	6503	SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797539delG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5731delC	9.37:g.117797539delG	ENSP00000265131:p.Arg1911fs					TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs	p.R1911fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			22	6142	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Del	DEL	ENST00000350763.4	37	c.5731delC	CCDS6811.1																																																																																				0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	205						7	205	---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67811329	67811329	+	Frame_Shift_Del	DEL	C	C	-	rs373533170		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:67811329delC	ENST00000265686.3	+	8	870	c.762delC	c.(760-762)ctcfs	p.L254fs	TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.L38fs	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	254					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGGCCCGCCTCGGGGCCCTGC	0.692																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(760-762)ctfs		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							5.0	7.0	7.0					11																	67811329		2048	4045	6093	SO:0001589	frameshift_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67811329delC	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.762delC	11.37:g.67811329delC	ENSP00000265686:p.Leu254fs					TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.L38fs	p.L254fs	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			8	870	+			254					O75877|Q8WVC5	Frame_Shift_Del	DEL	ENST00000265686.3	37	c.762delC	CCDS8177.1																																																																																				0.692	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		2	4						2	4	---	---	---	---
BORA	79866	broad.mit.edu	37	13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcafs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGGCTAGTGCAAAAAAATACA	0.383																																						ENST00000390667.5																			0											c.(772-774)gcfs		bora, aurora kinase A activator							103.0	98.0	100.0					13																	73320117		1807	4062	5869	SO:0001589	frameshift_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320117delA	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.774delA	13.37:g.73320117delA	ENSP00000375082:p.Ala258fs					BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	p.A258fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			9	871	+			258			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Del	DEL	ENST00000390667.5	37	c.774delA	CCDS9446.1																																																																																				0.383	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		8	1162						8	1162	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_Splice_Site|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000003607.4_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		6	12						6	12	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41018683	41018683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41018683delA	ENST00000352632.3	+	14	2073	c.1987delA	c.(1987-1989)aagfs	p.K663fs	SPTBN4_ENST00000338932.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000598249.1_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000595535.1_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000344104.3_Frame_Shift_Del_p.K663fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	663					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGCGCGACAAGGAGCGTCT	0.771																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1987-1989)agfs		spectrin, beta, non-erythrocytic 4							2.0	3.0	2.0					19																	41018683		1599	3225	4824	SO:0001589	frameshift_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41018683delA	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1987delA	19.37:g.41018683delA	ENSP00000263373:p.Lys663fs					SPTBN4_ENST00000344104.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000598249.1_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000338932.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000595535.1_Frame_Shift_Del_p.K663fs	p.K663fs			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	2073	+			663					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Frame_Shift_Del	DEL	ENST00000352632.3	37	c.1987delA	CCDS12559.1																																																																																				0.771	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			2	4						2	4	---	---	---	---
